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_21900 | A mutation in POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial DNA depletion syndrome | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGA 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ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAATGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGA 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Task1_train_21901 | This alteration in POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Progressive sclerosing poliodystrophy | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGA 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ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAATGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGA 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Task1_train_21902 | A variant on Chromosome 15 in gene POLGARF, POLG (POLG alternative reading frame| DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGAT 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TCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACACTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAACACAGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGAT 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Task1_train_21903 | Assess the clinical impact of this variant on gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Progressive sclerosing poliodystrophy | ATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCC 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ATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTAGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCC 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Task1_train_21904 | This variant affects the gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Progressive sclerosing poliodystrophy | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21905 | Chromosome 15 houses a mutation in gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Progressive sclerosing poliodystrophy | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21906 | Gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21907 | Located on Chromosome 15, this mutation impacts POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21908 | Located on Chromosome 15, this mutation impacts POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21909 | This alteration occurs within gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTACGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTC 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Task1_train_21910 | This variant lies on Chromosome 15 and affects the gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGCGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTCCGCATCCGTCTTGTGTTGCTCCAGGTGCTTCAACAGCTCTCAGCGCTCGGTGGTTGGTGAACTGTGGTAAAGTGCACGCAGAATAAGGTCTACGTGATTAAGCACCGCCTGGGGGTTGGGGTCTGGAGGCCCAGCTGCACAGATGAAAGGGAGGCTCAGAGACGTTTGGG 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TAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAAAAACAAATCTTTCTTGTCACTGGTTTCCTAATTTTCTTTCAGCCACCAAAGCCTACTTTATCTTTTCAAATGATGGCCGATATTCCCCTTTACTTTGACCATCAAGTTACATATTCTAAGTAGTGTGATTCTCATTGTAACTGGAACTCAATCAATGCAGAATCATCTAGTTTTGCTCTTTTCAGCCATTAATGCCTACCTTATCTATTTAGCCATGTTTTCACCATTTTCAACTGCATATTTAACATTTCGCAGCTTTCTTTACAAAGATGTAGCTTCCAATAGGAATAAAGAAACTGCCAACTTTTTTGCTGGCCATGCCTGAAAGCATTAAGGTTGTAAATAGTATTTTAATCCTGGAATGAAGAATAAAAAAAGGGGAGAAACAGTACTGCCATCATTGTTTGAAAAAGAAACTTGGGTAGCACTTAGAAAGTTATTTAAAAAGAAAAGAGAGATTGGATATACTTGTTTGGGACCAAAATGCCTGCTTGGAAGGCTGGGGGAAGGAAGCAATGTTTCTCAACTAGGGGTGGTCAACCAGATGCCACCTCAAGGGGGCGTCTGGAAACGTTGCCGGCGGGGGCAGGGGGGCGGGGGGGTGTTGGTCTGGCGTTTATGGGAAAGGCTGGGGATGCTAAATGTCCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCGCTCCCTACGTGAGCACCCAGCCCGTAACAGGACCTCAGAAAATGTTCACTGAAACAAACTATTAAGCTGGGCCCCCATGCCTGCTTATGTCCCCAACCCTGCCCCTACTTACCAGGCCGAGGGGGATATGGCCACCGCCAATGTGGGGCAAGTTCCCTCTGCCAAGCAGACCTCCACGTCGAACACCAGGGCCCGCTCCTCGGGGATGGCCACGGGTACGGCCTCCCCCTCGGGGCCGTACCGGGTCCAGCCCTCCGCCCAGGCCCAAGCCGGGGGCTTCGGGGGCAGCTGGGCCTGCAACAGCAAGTTGGCCGCCTCCAGGTAGGGCAGGCTCTGCTTCTGGGCCAGGAGGCGGAAGTGCTGGTCCAGGTTGTCCCCGTAGAGGGGCGGCAGGCGCAGCTCCACGTCGGGCAAGGGCACGGCTGGCTGCCCCCAGAGCCCGTGCTTCTGCAGGTGCTCGACGCTGCGGCGCACCGCGGCCTCGCCAGGCATCTCCCCTCCTTGCCCGAAGATTTGCTCGTGCAGCCCTCTCGAGAGCATCTGGATGTCCAATGGGTTGTGCCGCAGCTGCCCGCCCTCCGAGGATAGCACTTGCGGCTGCTGAGGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCGCCGCCGCTGCCCGTCGCTGGGGTCGGACGCGGGGACGGAGCTGGAGACCCAGCGCCCCGGAGCTGGAACCGGCCCTGGCCCGACGGTGGCGCCGGCCACCTTCCTCCAGAGCAGGGGGCTCATGGTTGGTGCAGGGACCCCCACGCTGGGAGTCAGAACACCTGGCTTTGGGCTCCAGCTTGGCTTCTTTTACTGGCTGGAAGACGTGGAGAGAGACACGTCCTGTCTCTGCTCTCCTGTCAGTGAAATGGGTTTGACCATGCCTGCCTTCCACCCCAAATCCTAAAGGAGACAGATGATATAAAGCGTTATTTTACCATATATGTAATAGGTGTATCCATAATCATCATTCCTTGAGCATTTACTGCGTCCCCAACACTGTGCCAGGCGCTTCAGTTGCATTTTCCGTTAAGCCTCAAAACTTGGGAAACGTCAATACCCCTCCTGGGGGAACCGGGGTCCACGCAACTTCGTCAGTGAACCCACGTGGGGAAGCCGAGGGCAGCGAGTAAGAGAGCAGTATCTGGAGTAGGGCGACGCGGTTTTGAACCCCGCTTCTGGCTCTCTCGAGCTGTGTGACCTTGGGCAAAGCTCCTTAGGCCCTGATATCCTATTCTGTAAAATGGGATTACGGATTCTGCCTGTCACACCGGGCTGCTGTCTGGGGGACACAGGGCGCCTATGTCGTGCGGCCCTGCTCTTGGCAAGCGCTCGGCAAATGGTGGCTGCCATTACCGCGACCGGCGCGGGCCTAGCGTCGAGAGGTGCCAGCGCCCGGATTCGAACCCGCAGGGTGGGCCGCCGTCCCCCGGGACCCACACCCACACCCGGACCACGGCCCACCCGGCCGAGAGCGTCCTGCAGGAGGAGTCGGCGGCCACCCCCGTGCGCCCCGCCGCCCGCCTGCGCCCGGCAGAGGCGCCGCGGTGCGCCCTGGGACTAGCCGCCGCCCTGCTCCGGGCCTCGCTCCCTGACTGGAGAGGGAGGGGCCGCGCCGTCGCTCAGCGACCCGGCCTCCCCGCCGCCGACCCCGCCGGAAACCTCGGTCCTCACGGTGCTTCCCGGTCTGCTGCTCCCCCGACCCCAGGCCCACGGCACGGCGTCCCCCTTCGCGCGGCCTACGCAGCCTCGGGGTAGCGTGTGGCCTCCACCCGGCCGGTCCGCTTCGCTGGCAGCCGCAACTTCCCGTCTGCACCCAGCTAGGTCCCGCGGCTACCCGAGAGGCAAGCGGGAGACTCCCAGCGCGACCAATAGGAGGGCCGCCAATGGAGCGGTCCGCCCGCGGGGGGAGAAGGGGGACTTCTGGGTGGGCTCTCCCTGCGGAACGCGCGAACCAAAGGCCAACCTCCCCTTCTCAAGGAGCAGGTGGATTGGTCCCGAGCTAGCTGGTGGGCGGAGGTGACGTTTTTATAAGTTGCTCAAGAGACGGTAACAACCGACGGGCCGCGTGGCCTAATGGATAAGGCGTCTGACTTCGGATCAGAAGATTGCAGGTTCGAGTCCTGCCGCGGTCGAAGGGAGGTTATGATTAACTTTTAGTTTATTCCTCCCTCAGGAACGAAGTATTGGGACAATGTGAACGTAGTCGCCGCCGATTCCCACCGCACTTCAAAGATGTGGGAACGCCAAGATCCGCGGAAGTAACCACGCCCAGCAAGTCCCTGCGAGATTGCCCGCCTACGTGTCTCAGCGGAGGCACATTTCTAAAATGTACCAGGTCTCTCGCACCCCGACGCAGGTGGAGGAAAGTGGAGAGGGAGGGGCATCCTGTACAGAAATCTCAATTTATACTCAATTGATGGTTGGCAAGAGTTGGGGCTCGCAGCCAAAGCGAGGCTCCCTCCCTCGCCCATCCGGTGCTGCCTCCTCGTCCAGAGCAATTCTGAGGGGTAAAAATGTTGCCTTCCGTTGAACCTGAATTTGCCCGCAGATGCTAGCCTCCGGCCCACAGCGCGGCTGGAGCTTGTCCCCTTCCCCAGCTGTTTCCAGTCTCCGCATCCGTCTTGTGTTGCTCCAGGTGCTTCAACAGCTCTCAGCGCTCGGTGGTTGGTGAACTGTGGTAAAGTGCACGCAGAATAAGGTCTACGTGATTAAGCACCGCCTGGGGGTTGGGGTCTGGAGGCCCAGCTGCACAGATGAAAGGGAGGCTCAGAGACGTTTGGG 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Task1_train_21911 | Gene KIF7 (kinesin family member 7), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple epiphyseal dysplasia, Al-Gazali type | GGCTCGGAGTCTCCCTCCAAGGCAGGGTCTGCCCCGAGGGCTTACAGGGGGTTTTTCCGGACATCAATCATCCCCGGGCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGACAGCCAGAGAAGCTCGGGTGCCAGGTGGAGCTCATCTTCATTTCCAGGAGCCTGTCTGCCCTCCGAGCACAGGCTCCTCTTCTCCCCACCTGTCATGGAGAGTAACGTGTCCTCATCAGAAACAGGTGGCAACACCTTCCCGAAGCCCTAGCTCCCCAGTGCCCCAGCACAATAAGCAACCTGTGAATTGAGCCAATAAAGGCTCGAGGGAGAGTGGTCTCTAAGCTTTCCCCAAAGAAAGGGAACAGGTCTGACTTCAGAGCGCGACGAGGAGTTACCCCTGCTGTGGCCTACAGCGTTCACACCGCCGAGCTTCTGTTTCAGTTCCTGGTTTATCCACATGTAACGGCCCAGTTCCTTCTCCAGAGCTTGAATCCGGGCCTCATACTGCCTCCTGCTGTCTGCTAACCCTTCACCGAGGTGGTCTAGAGTGGAAAGGTCGAGGAGAGGGTGGTGAGGGCTGCAGGCGGGGCAGGCGGCCAGGGCTGTGGGGGTGGGGGCTGTGGGCTGGGTGGGGGCCGGGGTTGTGAGCGGTGGGCCGGGCCACCAGGGCTGTAGGTGCAGGGGCTGTGAGTGGCAGGGGCGGTGGGGGGAGGGAGGGGGGTGCAGGGCGGGGAAGATGGGGGTGGGGGGGATGGAGGGGGCCGGGGTTGTGAGCCATGGGCCGGGCTGCTCACCTCGACTCTGCTGCAGGAGCAGCTGCATGTTCTGCTCGTGCTCCTTCTGCTGCAGGGTCAGCTGGCGGTCCATCTCCAGGCGCTGCCGCTCCAGGGCCACCTCCAGCCAGTACACCAGCCTCTGCTGCTCCTCCAGCTGCATCTCCAGTTCCGAGAAGGCAATCTGCTGCTGGTGCTGCTCCTCTCGGAGCGTCACCACCTGTCCCAAGACCCAGCCAGGCTCAGCCCTCATCATGACCCCTCTTCATCCAGCTAATCCTCAATCACAGACACAGTATTGGCACACTTGCCACCACGGCACTAAGAAATCACCAGGGTCTTCCCTGCTGAGCCAAGACTCAGCCTCAGACACCTCAGCAGTGCTCTAGTTATCTTCCAACGATCAGAGCTGGCTCTCACCTTATCTGCTATCTCTGCCACAAACCCTTTCCTAGCCACACACTATGGAGCTGGGCAGAGCGTCAAGTTGTGGGATTTCATCTAGACCAACCTCAGCACTATGGACATCTGGGACCAGATAATTCTTGGTTGTGGGGGCCTGTCCTGTGTGTTATAGGATGTTTAGTAACATCCCTGGCCTCCACCCCCACCACTGTGACAACCAAAAGTATCTCCAGCCATGGCCAAATGTCACAAAAGGGCAAAAACTTCCCCTACTGAGAGCTACTATTGTGGCCATGGACCACCCTGAGGTTAGCCAATCAGAGCAGAAGTGGGGGGCGGGTAGGAAACTGGGTCTTAGTTTCACAAGTAAAATAGGCTTTAAGGTCAGGCGGCCCTGCAGATGAGTTGGTCCTGATTCTGTCCCCCAGTCTGGGAGGAAACGGGATATCCGCTGGAGCAGCTGCCATGAGACACCTCCCCACACGTGCCGCTGAGGAGGAGCTGGGGGGCCATGGGCTGCTGGCCCACCTTGTCAAAATACTTGCAGAGGAGGGCTCTGGTCTCTGAGGATGAGAGGTAGCTGAGCTTGGCCATGAGGTTCATCTCGCACTGGGACAGCAACGAGGCTGAGGCCCGAAGCACCCGCTGGCGGCATGTGATGGCCTCATTCTTATACTCAATGGCAGCATCCAGGGCCTCGATGGCCTCATCCAACTGGAACAGCGTCCGCTCCTCCTGCAGAGACGGGCACGCGTGGAGGAACAGCACCCACTGCCTGAATGCTGAAGTCCTGGGCAGACATGCAACAGCCAACACGTAGCCACAACTGGGCCTTAAGGGTCCCCTCGTCCCAAGGGCCAAGTCAGCCCATCGAGAGAGGTGCCCCCTGCTCACTGTCACAGCCCCAACCCCAGGGTGAGCTGGGGGCACTGCTCAGAGGTGGCCTGCTCAACTGCAAGCCTCTGTGAATGATCTACATTCAGGAAGTTCAGAGCACCCTAACCAAACAAAAGGCATGGTTGGGACAGCCACGGAGGCACCACGGTGTCTGCTGGGTAAGCTTCTACAGATGGGGATACGTTCTAAGAAATGCATCATTAGGCGTTTTCGACGTCGTGCAAACATCAGAATATACTCACACAAACCTAGATGGTATAGCCCACCACACACCTAGGCTACAAGCCTGGACAGCATGTGACTGTACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGCACAGCCTGGCCCCTGTGTCCCAGCCAATGAGGCCAAAGCAGGGGCAGAAGGGCCAGGCCAGCCCTCCCCAGCCCCCACCTCCACCTAACAGTGAAAACTTGGGTCTGCCGACAGCAAGGCCCAGCACCCGCAGAGGGCTGGAGCAAGGGCTGAGGAGAGCAGACAGACAGGCATACAATGGCACCAAGGGGCTGAGCCATGGGGCCGCAGGGTACCTCGGGGGACAGCAGACTCCCCTGCCTCAGCTTGCCGTCGATCTCCAGGCGCTGCTTGAGCAGCGAGTCCTTCTCCTGGCGCAGGCTGTCGATCTCCCCGCGGATCTGCTGCTGGCTCTGGGCGCTGCCCTGCCGCAGCTGCCCGCTCTTCTCGGACAGCTCCTTCTCCAGGTGCTCCAGCCGGCTGGACACTCGCACGATGTCCTCGTTGAGGGCCTGGGGGCAGAATCACCAGGGATTAGAGAAGGAACAGGCACTGTCCTCACAGGGGGGACAGAAAGGGCCGGATGTTAAGGAGGACTTGCGTCCTTCCCTCAAGAAACCAACACTCCAAATGTTCTGCTCAGCAGGGAGACCAGACTTAGTTCACAGAGACTCCAGGAGGCGGGGCTAAAGGGACCAGAGCATTTGCAGAGGGGCACTCAGAGATGGCGAGAGGAGGATAAGGACCAGAGGGACGTGGCCCTCCTGGCAAGAACAGGCAATGGGTAGGGGTGGGAGGAATGATCTGTCACTGAGATGACCGGACTGGACAGTGATAGGAATTGGCCAAGCCCTAAAGGCCTTTCTGGGAGCCAGATGCGGGAGGAAGTGAGGGCTCTCCTGGCGGAGGGAAGTTACGGATCATTCCAGTAGGACCCTGGATCCTCCTGGACATCAGAGTGATGCGTGCTGGCAGGAGCAAGGCTCCTGGCCTCTGCGGGCCTAGGACACTGGGCGTGTGGCCCAAGCCCCTGTACTGGAACAGGCCCTGCATCAATGACGGCCATCCCCCTCCAGCCATCATGGTAACATTATGATCCCATCTGACAGAAGACAACGCTGTGGCTCAGAAGCTGACCTTCCTATTCTAGATGGAGTAATGATGCCAGGCGGAGAAGTCTCTTTCTATTTGGCTATACCACCTTCCTATACCTGCGCCTCCTCATTCTTCCTGCACAGGCCCTGAGGAGGGGGTTAATGAGTGAAATGAATTGGA 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GGCTCGGAGTCTCCCTCCAAGGCAGGGTCTGCCCCGAGGGCTTACAGGGGGTTTTTCCGGACATCAATCATCCCCGGGCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGACAGCCAGAGAAGCTCGGGTGCCAGGTGGAGCTCATCTTCATTTCCAGGAGCCTGTCTGCCCTCCGAGCACAGGCTCCTCTTCTCCCCACCTGTCATGGAGAGTAACGTGTCCTCATCAGAAACAGGTGGCAACACCTTCCCGAAGCCCTAGCTCCCCAGTGCCCCAGCACAATAAGCAACCTGTGAATTGAGCCAATAAAGGCTCGAGGGAGAGTGGTCTCTAAGCTTTCCCCAAAGAAAGGGAACAGGTCTGACTTCAGAGCGCGACGAGGAGTTACCCCTGCTGTGGCCTACAGCGTTCACACCGCCGAGCTTCTGTTTCAGTTCCTGGTTTATCCACATGTAACGGCCCAGTTCCTTCTCCAGAGCTTGAATCCGGGCCTCATACTGCCTCCTGCTGTCTGCTAACCCTTCACCGAGGTGGTCTAGAGTGGAAAGGTCGAGGAGAGGGTGGTGAGGGCTGCAGGCGGGGCAGGCGGCCAGGGCTGTGGGGGTGGGGGCTGTGGGCTGGGTGGGGGCCGGGGTTGTGAGCGGTGGGCCGGGCCACCAGGGCTGTAGGTGCAGGGGCTGTGAGTGGCAGGGGCGGTGGGGGGAGGGAGGGGGGTGCAGGGCGGGGAAGATGGGGGTGGGGGGGATGGAGGGGGCCGGGGTTGTGAGCCATGGGCCGGGCTGCTCACCTCGACTCTGCTGCAGGAGCAGCTGCATGTTCTGCTCGTGCTCCTTCTGCTGCAGGGTCAGCTGGCGGTCCATCTCCAGGCGCTGCCGCTCCAGGGCCACCTCCAGCCAGTACACCAGCCTCTGCTGCTCCTCCAGCTGCATCTCCAGTTCCGAGAAGGCAATCTGCTGCTGGTGCTGCTCCTCTCGGAGCGTCACCACCTGTCCCAAGACCCAGCCAGGCTCAGCCCTCATCATGACCCCTCTTCATCCAGCTAATCCTCAATCACAGACACAGTATTGGCACACTTGCCACCACGGCACTAAGAAATCACCAGGGTCTTCCCTGCTGAGCCAAGACTCAGCCTCAGACACCTCAGCAGTGCTCTAGTTATCTTCCAACGATCAGAGCTGGCTCTCACCTTATCTGCTATCTCTGCCACAAACCCTTTCCTAGCCACACACTATGGAGCTGGGCAGAGCGTCAAGTTGTGGGATTTCATCTAGACCAACCTCAGCACTATGGACATCTGGGACCAGATAATTCTTGGTTGTGGGGGCCTGTCCTGTGTGTTATAGGATGTTTAGTAACATCCCTGGCCTCCACCCCCACCACTGTGACAACCAAAAGTATCTCCAGCCATGGCCAAATGTCACAAAAGGGCAAAAACTTCCCCTACTGAGAGCTACTATTGTGGCCATGGACCACCCTGAGGTTAGCCAATCAGAGCAGAAGTGGGGGGCGGGTAGGAAACTGGGTCTTAGTTTCACAAGTAAAATAGGCTTTAAGGTCAGGCGGCCCTGCAGATGAGTTGGTCCTGATTCTGTCCCCCAGTCTGGGAGGAAACGGGATATCCGCTGGAGCAGCTGCCATGAGACACCTCCCCACACGTGCCGCTGAGGAGGAGCTGGGGGGCCATGGGCTGCTGGCCCACCTTGTCAAAATACTTGCAGAGGAGGGCTCTGGTCTCTGAGGATGAGAGGTAGCTGAGCTTGGCCATGAGGTTCATCTCGCACTGGGACAGCAACGAGGCTGAGGCCCGAAGCACCCGCTGGCGGCATGTGATGGCCTCACTCTTATACTCAATGGCAGCATCCAGGGCCTCGATGGCCTCATCCAACTGGAACAGCGTCCGCTCCTCCTGCAGAGACGGGCACGCGTGGAGGAACAGCACCCACTGCCTGAATGCTGAAGTCCTGGGCAGACATGCAACAGCCAACACGTAGCCACAACTGGGCCTTAAGGGTCCCCTCGTCCCAAGGGCCAAGTCAGCCCATCGAGAGAGGTGCCCCCTGCTCACTGTCACAGCCCCAACCCCAGGGTGAGCTGGGGGCACTGCTCAGAGGTGGCCTGCTCAACTGCAAGCCTCTGTGAATGATCTACATTCAGGAAGTTCAGAGCACCCTAACCAAACAAAAGGCATGGTTGGGACAGCCACGGAGGCACCACGGTGTCTGCTGGGTAAGCTTCTACAGATGGGGATACGTTCTAAGAAATGCATCATTAGGCGTTTTCGACGTCGTGCAAACATCAGAATATACTCACACAAACCTAGATGGTATAGCCCACCACACACCTAGGCTACAAGCCTGGACAGCATGTGACTGTACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGCACAGCCTGGCCCCTGTGTCCCAGCCAATGAGGCCAAAGCAGGGGCAGAAGGGCCAGGCCAGCCCTCCCCAGCCCCCACCTCCACCTAACAGTGAAAACTTGGGTCTGCCGACAGCAAGGCCCAGCACCCGCAGAGGGCTGGAGCAAGGGCTGAGGAGAGCAGACAGACAGGCATACAATGGCACCAAGGGGCTGAGCCATGGGGCCGCAGGGTACCTCGGGGGACAGCAGACTCCCCTGCCTCAGCTTGCCGTCGATCTCCAGGCGCTGCTTGAGCAGCGAGTCCTTCTCCTGGCGCAGGCTGTCGATCTCCCCGCGGATCTGCTGCTGGCTCTGGGCGCTGCCCTGCCGCAGCTGCCCGCTCTTCTCGGACAGCTCCTTCTCCAGGTGCTCCAGCCGGCTGGACACTCGCACGATGTCCTCGTTGAGGGCCTGGGGGCAGAATCACCAGGGATTAGAGAAGGAACAGGCACTGTCCTCACAGGGGGGACAGAAAGGGCCGGATGTTAAGGAGGACTTGCGTCCTTCCCTCAAGAAACCAACACTCCAAATGTTCTGCTCAGCAGGGAGACCAGACTTAGTTCACAGAGACTCCAGGAGGCGGGGCTAAAGGGACCAGAGCATTTGCAGAGGGGCACTCAGAGATGGCGAGAGGAGGATAAGGACCAGAGGGACGTGGCCCTCCTGGCAAGAACAGGCAATGGGTAGGGGTGGGAGGAATGATCTGTCACTGAGATGACCGGACTGGACAGTGATAGGAATTGGCCAAGCCCTAAAGGCCTTTCTGGGAGCCAGATGCGGGAGGAAGTGAGGGCTCTCCTGGCGGAGGGAAGTTACGGATCATTCCAGTAGGACCCTGGATCCTCCTGGACATCAGAGTGATGCGTGCTGGCAGGAGCAAGGCTCCTGGCCTCTGCGGGCCTAGGACACTGGGCGTGTGGCCCAAGCCCCTGTACTGGAACAGGCCCTGCATCAATGACGGCCATCCCCCTCCAGCCATCATGGTAACATTATGATCCCATCTGACAGAAGACAACGCTGTGGCTCAGAAGCTGACCTTCCTATTCTAGATGGAGTAATGATGCCAGGCGGAGAAGTCTCTTTCTATTTGGCTATACCACCTTCCTATACCTGCGCCTCCTCATTCTTCCTGCACAGGCCCTGAGGAGGGGGTTAATGAGTGAAATGAATTGGA 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Task1_train_21912 | The gene LOC130057891, MESP2 (ATAC-STARR-seq lymphoblastoid silent region 6806| mesoderm posterior bHLH transcription factor 2) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spondylocostal dysostosis 2, autosomal recessive | TTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTTATTTATTTACTTATTTATTTATTTTTGAGACGGAGTCTCGCACTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCGGCTGGTTTTTGTATTTTTAGTAGAGACAGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTTATGACCTCAGGTGATCCATCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCTGGCCAGTACCTTCTTTATAAAACGATCATGGCAAACCTTCAGCTCACTTGCCAGGGCCTAAGTGCTTTACAGGGATCGCTGTACTTAGTCCAGGAACCATCCTAGGCATAGGTATTTTGTATCACTATTGGTACCGATGAGGGAATCTGAGGCTCAGAGGAGCTAAATAACTTAACCAAGGTCACAGCCAATAAAGAGGCCGGCTTGGGGACCCATTTTCGCCGGTTTTCATCACCTAGGGTACCCAACTCCTCTTCCCCAACCTAATCTATTCCATTTCTCAAGAGTAGATACAGACCATGGGCAGTGAGATGCCTTTCTTGGTGTGTCACTCAACAAATCAGAAACTGTGGATTTTGGGGACCCCAGAAGGGCCCACCTGCACTTCTTCCTCAGCCACCATGGGCAGGGCCCTCCGGGCTTGTCTTGATGCCTTATTTAATACAACAGTAGGCACAGCGTCCTGGGCACAGACCTCCGGGAGGTTAGTGATGAGAGAGGCACCCACTCCTCACGGGGTCCCTGAGGCACCCACAGACCATGGCACTACCCGCCTCTGTTGGGCTCCCGGGCACTCACCGTGAGCAGTGGACGGGGCAGGGGCGTGGGTGGGAGCGTGGTGAGAAGCTTAGCAGCTCCATCCAGATGCGAATTGTCCCTCCCATACTTCCCGGGCTGCAGGGGCCTCCATTTAGAGCCCCCAAGGAGTCAGAATCCACACCTCCGCAAATGGGCCCGCTTTCCCAGGGGCCCCCTGCCCAGACTTTCCCTGGGCTCTGTGGGTTTTGACACCTCTCTGCAACCTGGCGGGGGGCCACCTCGCACCTTTGGTCAACATAAAAGCTCAGGCCTGGAGGTGGCCAACCCAGCCTCCCAGAGCCTGCAGCCCGGCCATGGCCCAGTCGCCTCCTCCGCAGAGCCTCCTCGGCCACGACCACTGGATCTTCGCCCAGGGCTGGGGCTGGGCCGGCCACTGGGACTCCACGTCCCCGGCCTCCTCCTCCGATTCGTCGGGTTCGTGCCCCTGCGACGGCGCCCGCGGACTCCCGCAGCCACAGCCTCCGAGCTGCAGCTCCCGAGCCGCAGAGGCAGCCGCGACGACGCCCAGACGAGCGCGCACCGGACCAGCGGGCGGACAGCGGCAGAGCGCCAGCGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGTTGCGCCGCTTTCTGCCTCCCTCCTTGGCGCCGGCCGGCCAGAGCCTGACCAAGATCGAGACGCTGCGCCTGGCCATCCGCTACATCGGCCACCTATCGGCCGTGCTGGGTCTCAGCGAGGAGAGTCTGCAGTGCCGGCGCAGGCAGCGCGGGGACGCGGGGTCCCCTTGGGGCTGCCCGCTGTGCCCCGACCGTGGCCCCGCAGAGGCGCAGACGCAGGCGGAGGGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAAGGGCAGGGGCAAGGACAGGGGCAAGGACAGGGGCAAGGGCAGGGGCGCAGGCCGGGCCTGGTCTCCGCCGTCCTCGCCGAGGCGTCCTGGGGATCCCCGTCCGCCTGCCCCGGAGCCCAAGCCGCACCCGAGCGCCTGGGGAGGGGGGTCCACGACACGGATCCCTGGGCAACACCCCCTTACTGCCCCAAGATACAGTCGCCCCCGTATTCGTCCCAAGGGACAACCTCCGACGCGTCTCTTTGGACGCCACCCCAAGGCTGTCCCTGGACGCAGTCGTCCCCAGAGCCCCGGAACCCACCAGTGCCCTGGACGGCGGCCCCAGCAACTTTGGAGCTGGCCGCAGTGTACCAGGTATGTGTGGAGGCCCTTGCTGTGTTCCCCAGCCTCCAGTCTGCAGAGAATCTCGTACTTTTTCGATCCCAGCTTATCTACTCCAGGATTATCTAACGGAGGGGAGAATGGAAGGAACCCCCGGCTCCGTGGGAGAAGAGATGGGACCCTGGGAAGTTAAGGCCATCTCCACAGTCACCACAAGCAGTCTTCACAGCCATGGGAAAGAGGGGGAGCCCGCCGACTTTCTCAGAGGGTGGAAAGTAGCAGGGTGGGCGTGCTGGCTTCAAGTGCTATTAAGACTGCAGTGGGGGAAGGAAGTCCCAGGGTAAGGGCAGCATTTCCTGAGTAGATGGGCCTAGAGCTGGTGATTTCAAGTTTTCTTCAAGATTCGTTCATTCATGAGGCTCATGAATGACTCATCGTCCATAAAAAATCATATTAACCAAAATTTGTTGAACACTTTCTATGTGCCCATCATCATTCTTGGCACCTTACATGTATTATTCAGCCCCAGTAATGACCCTAGGAAGTAGGTATTATCAGCATCTCTATTTTACAGGTGAGAAAACTGAGACTAAAAGAAGCTACCTGAGTTCTCATTACTAGTGAGTAGCAGAACTGGGATTTAAGCCTTAGCAGAGTGTCTCCCGAGCCAGTCCTCTTAACCACTTGGCTTTGCTGCATTCATGGCACCAGGGCTGTCCGGATGCTGCCAGCCATACCATGGCAACCAGCCAGATTCAAGATCTCTGGATATCAGGGAGTAGCCCACTAACCAGGCTGCTCTCATCTCTCTTGCAGGGTCTCTCTGTGTCTCCAGAGCCCTGTCTGTCGCTGGGAGCTCCATCTCTCCTGCCCCACCCATCATGCCAGAGACTGCAGCCTCAGACCCCCGGGAGGTGCTGGAGCCACAGTGCAGAGGTGGTGCCCAACTCAGAGGACCAGGGACCGGGCGCCGCCTTCCAGCTCAGTGAAGCAAGCCCTCCCCAGAGCTCAGGCCTGCGGTTCAGTGGCTGCCCTGAACTTTGGCAAGAAGATCTGGAGGGGGCCCGCCTGGGCATCTTCTACTAAATGGCCTCGGCTTCCCTCTTTCCATCCAGGAATCAGTCCTGTAGCTTGGGTGCCTCCTTATTTGTTAATTAGTGGCTTTTCATGTTCTCCTTTAGCCAAGGCTCCCTTTTTCCAAGTGATGTCTTTCAGGGAAGCAGTGTTTGAAATAGATAGCGGGTACCTTCCCTGGATGGAGTCAGGGCGGGGGCACTGTCCTCCACTGCTAGACACCCCCAGAATGCCTGGCGCTCTGCAGAGCACAGTCTGAGCTGCTCTAAGAAGGGGTCTCCTTTACCCTAAAGGCAGCTGGGCAGGGACAGGTGGGAGAATGGGTGTAGGAGGCAGGCCCCAGGCTCTGCTTCTTGGTGACAGTTGGCCAGAGCCCTGTATGCTTTGATTTTTTTGTACTTAAAAAGAAAAAACACACACACACAACAAAAATTTGGTTTGGCCTTGTTTTTTGT | TTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTTATTTATTTACTTATTTATTTATTTTTGAGACGGAGTCTCGCACTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCGGCTGGTTTTTGTATTTTTAGTAGAGACAGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTTATGACCTCAGGTGATCCATCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCATGCCTGGCCAGTACCTTCTTTATAAAACGATCATGGCAAACCTTCAGCTCACTTGCCAGGGCCTAAGTGCTTTACAGGGATCGCTGTACTTAGTCCAGGAACCATCCTAGGCATAGGTATTTTGTATCACTATTGGTACCGATGAGGGAATCTGAGGCTCAGAGGAGCTAAATAACTTAACCAAGGTCACAGCCAATAAAGAGGCCGGCTTGGGGACCCATTTTCGCCGGTTTTCATCACCTAGGGTACCCAACTCCTCTTCCCCAACCTAATCTATTCCATTTCTCAAGAGTAGATACAGACCATGGGCAGTGAGATGCCTTTCTTGGTGTGTCACTCAACAAATCAGAAACTGTGGATTTTGGGGACCCCAGAAGGGCCCACCTGCACTTCTTCCTCAGCCACCATGGGCAGGGCCCTCCGGGCTTGTCTTGATGCCTTATTTAATACAACAGTAGGCACAGCGTCCTGGGCACAGACCTCCGGGAGGTTAGTGATGAGAGAGGCACCCACTCCTCACGGGGTCCCTGAGGCACCCACAGACCATGGCACTACCCGCCTCTGTTGGGCTCCCGGGCACTCACCGTGAGCAGTGGACGGGGCAGGGGCGTGGGTGGGAGCGTGGTGAGAAGCTTAGCAGCTCCATCCAGATGCGAATTGTCCCTCCCATACTTCCCGGGCTGCAGGGGCCTCCATTTAGAGCCCCCAAGGAGTCAGAATCCACACCTCCGCAAATGGGCCCGCTTTCCCAGGGGCCCCCTGCCCAGACTTTCCCTGGGCTCTGTGGGTTTTGACACCTCTCTGCAACCTGGCGGGGGGCCACCTCGCACCTTTGGTCAACATAAAAGCTCAGGCCTGGAGGTGGCCAACCCAGCCTCCCAGAGCCTGCAGCCCGGCCATGGCCCAGTCGCCTCCTCCGCAGAGCCTCCTCGGCCACGACCACTGGATCTTCGCCCAGGGCTGGGGCTGGGCCGGCCACTGGGACTCCACGTCCCCGGCCTCCTCCTCCGATTCGTCGGGTTCGTGCCCCTGCGACGGCGCCCGCGGACTCCCGCAGCCACAGCCTCCGAGCTGCAGCTCCCGAGCCGCAGAGGCAGCCGCGACGACGCCCAGACGAGCGCGCACCGGACCAGCGGGCGGACAGCGGCAGAGCGCCAGCGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGTTGCGCCGCTTTCTGCCTCCCTCCTTGGCGCCGGCCGGCCAGAGCCTGACCAAGATCGAGACGGTGCGCCTGGCCATCCGCTACATCGGCCACCTATCGGCCGTGCTGGGTCTCAGCGAGGAGAGTCTGCAGTGCCGGCGCAGGCAGCGCGGGGACGCGGGGTCCCCTTGGGGCTGCCCGCTGTGCCCCGACCGTGGCCCCGCAGAGGCGCAGACGCAGGCGGAGGGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAAGGGCAGGGGCAAGGACAGGGGCAAGGACAGGGGCAAGGGCAGGGGCGCAGGCCGGGCCTGGTCTCCGCCGTCCTCGCCGAGGCGTCCTGGGGATCCCCGTCCGCCTGCCCCGGAGCCCAAGCCGCACCCGAGCGCCTGGGGAGGGGGGTCCACGACACGGATCCCTGGGCAACACCCCCTTACTGCCCCAAGATACAGTCGCCCCCGTATTCGTCCCAAGGGACAACCTCCGACGCGTCTCTTTGGACGCCACCCCAAGGCTGTCCCTGGACGCAGTCGTCCCCAGAGCCCCGGAACCCACCAGTGCCCTGGACGGCGGCCCCAGCAACTTTGGAGCTGGCCGCAGTGTACCAGGTATGTGTGGAGGCCCTTGCTGTGTTCCCCAGCCTCCAGTCTGCAGAGAATCTCGTACTTTTTCGATCCCAGCTTATCTACTCCAGGATTATCTAACGGAGGGGAGAATGGAAGGAACCCCCGGCTCCGTGGGAGAAGAGATGGGACCCTGGGAAGTTAAGGCCATCTCCACAGTCACCACAAGCAGTCTTCACAGCCATGGGAAAGAGGGGGAGCCCGCCGACTTTCTCAGAGGGTGGAAAGTAGCAGGGTGGGCGTGCTGGCTTCAAGTGCTATTAAGACTGCAGTGGGGGAAGGAAGTCCCAGGGTAAGGGCAGCATTTCCTGAGTAGATGGGCCTAGAGCTGGTGATTTCAAGTTTTCTTCAAGATTCGTTCATTCATGAGGCTCATGAATGACTCATCGTCCATAAAAAATCATATTAACCAAAATTTGTTGAACACTTTCTATGTGCCCATCATCATTCTTGGCACCTTACATGTATTATTCAGCCCCAGTAATGACCCTAGGAAGTAGGTATTATCAGCATCTCTATTTTACAGGTGAGAAAACTGAGACTAAAAGAAGCTACCTGAGTTCTCATTACTAGTGAGTAGCAGAACTGGGATTTAAGCCTTAGCAGAGTGTCTCCCGAGCCAGTCCTCTTAACCACTTGGCTTTGCTGCATTCATGGCACCAGGGCTGTCCGGATGCTGCCAGCCATACCATGGCAACCAGCCAGATTCAAGATCTCTGGATATCAGGGAGTAGCCCACTAACCAGGCTGCTCTCATCTCTCTTGCAGGGTCTCTCTGTGTCTCCAGAGCCCTGTCTGTCGCTGGGAGCTCCATCTCTCCTGCCCCACCCATCATGCCAGAGACTGCAGCCTCAGACCCCCGGGAGGTGCTGGAGCCACAGTGCAGAGGTGGTGCCCAACTCAGAGGACCAGGGACCGGGCGCCGCCTTCCAGCTCAGTGAAGCAAGCCCTCCCCAGAGCTCAGGCCTGCGGTTCAGTGGCTGCCCTGAACTTTGGCAAGAAGATCTGGAGGGGGCCCGCCTGGGCATCTTCTACTAAATGGCCTCGGCTTCCCTCTTTCCATCCAGGAATCAGTCCTGTAGCTTGGGTGCCTCCTTATTTGTTAATTAGTGGCTTTTCATGTTCTCCTTTAGCCAAGGCTCCCTTTTTCCAAGTGATGTCTTTCAGGGAAGCAGTGTTTGAAATAGATAGCGGGTACCTTCCCTGGATGGAGTCAGGGCGGGGGCACTGTCCTCCACTGCTAGACACCCCCAGAATGCCTGGCGCTCTGCAGAGCACAGTCTGAGCTGCTCTAAGAAGGGGTCTCCTTTACCCTAAAGGCAGCTGGGCAGGGACAGGTGGGAGAATGGGTGTAGGAGGCAGGCCCCAGGCTCTGCTTCTTGGTGACAGTTGGCCAGAGCCCTGTATGCTTTGATTTTTTTGTACTTAAAAAGAAAAAACACACACACACAACAAAAATTTGGTTTGGCCTTGTTTTTTGT 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Task1_train_21913 | A variant was discovered on Chromosome 15, affecting IDH2 (isocitrate dehydrogenase (NADP(+)) 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; D-2-hydroxyglutaric aciduria 2 | TTTTACTGCAATCTGATTTGTCTTTTAGGACACCCTAGGGCTTGGGGGTTTGCAGGCTTCCCCAACATTCTCTTCCATCCATTAGGTTCACTATGCAAAATGCATTCGCTGTAGTTTAAAGAACCTCCAGTCCCGCTTGATCCCATTTTCCTACTGGAACCAAAGAGTCATGAGGCTCCATCATGGACTGGAGCAACCTTAGGGCTGTCAACCTAGCCCTGGAATTCCTGTGCCCTCCTTTCTCTCTAAGAGCAGCCTCAGTCATACACCAGTCCAAACCTAATTTGTGATCCTCTCTCACTCAGATGCCAGGGAGCTCCTGCCCCCTGCTGTCCACAGAGGACCCTGCAATGAGTCCTGCTCCACTAGAGTTTTCTACCAAAAGGGTCTGAAAATCCCTCCAGCCAGAGAAGACCAACAGTCCACCCCCACAGGGAGCAGCGTCCTCCCAGCGTACCCTGGGCCAGGATGTCTGACTGCACATCTCCGTCATAGTTCTTGCAGGCCCACACAAAGCCACCCGAAGACTTGAGGACCTGAGCCACCATGTCATCAATGAGCCGGTGCTCATACCAGATCTTATTCTTGTCGAAGTCGGTCTTATAGTGCCTGGGAGTAAAAAGGTCTGTTATGGGGAGAGGGCAGAAGGCTGACAGGTTGGGGATCCCTCCCTGAGCCTCGGAGCTGAGCCAAATGCACTCTAATAGCGACCTTCCCAGGGTAGGATGGGAACAGCATGGGGGGAAGGGAAGAAAGGCCACAGAGTACATGGATGAGGCTTTACTTGTCAAAGATCTCCTGGAAGATGTCCTTGAAACGCCCATCGTAGGCTTTCAGTATGGTGTTCTTGGTGCTCATGTACAGCGGCCATTTCTTCTGGATGGCATACTGGAAGCAGCTGTGCGCAAAACCTGAGATGGACTGCAGGGGGAGAGACAGGGCCCTGGCGTGGTGCCCTAGCCTGGCGATTGCCGGCAACCTCCCACCTCCCAGGGCAAGGCCCAGCTCTCCAGGAACGGTACCCCGCCGCCCACGCGACTGTTTAACACCAGCCTCCGTGCAGTGCACACGATGTTTCTGCTGGCCCAGCCTCTCCCTCTCAACTTTGCTTTGTAAAACACCGCCTTTTTTTTTTTTTTGGAAAACACCGCCTTTTTTTTTTTTTTTTTGGAAACAACTTTTTTTTGGAAAGCACCGCCTTAGACTACATGTGGCTGGGGCAGGGCTAATTCCCAGGCCTAGCGCTGGGGTTGACAGTGTGTCCCTGGCTTATCCAATCAGAAGCCTTTCTCCCCAGGGCCTCTGTGATTGGCTCAGAGGTGGTCATGTGACTCAGCCTGGCATTGGAGCTGGAACTGGGGATAAAGAGGCATTCTCTTCTGATAGGGTAGCCAAGCAGGCAGGAGTACGCCTGGAGCTGCTCGTGGCCATTTCTTTTCTTTTCTTTTCTTTTCTTTTTGTTTCAAGAGATGGGGTCTCACTGTTGCCCAGGCTGGTCTCAAACTTCTGGTCTCAAGCAATCCTGCCTTGGCCTCCCAAAATGCCGGGATTACAAGTGTCAGCCACCATGCCCAGCCCTGGTGGCCATTTCTGCCTCTTTGTGGCCTAAGAATGAGGCCATTACAGAAGAAAGGAAAGCCACGAGACAGAGATGAAGAGACAAGCTGGGAGAGGAGGGGCCCAGGATGCCCAAGCCAGCCTCACCTCGTCGGTGTTGTACATGCCCATGCCCACGCCGCCTGCGGGGAAGTTGTACACTTCCCACTCCTTGACACCACTGCCATCTTTTGGGGTGAAGACCATTTTGAAAGTGCCGGCCCGGTCTGCCACAAAGTCTGTGGCCTTGTACTGCAGAGACAAGAGGATGGCTAGGCGAGGAGCTCCAGTCGGGGGGTGCCCAGGTCAGTGGATCCCCTCTCCACCCTGGCCTACCTGGTCGCCATGGGCGTGCCTGCCAATGGTGATGGGCTTGGTCCAGCCAGGGACTAGGCGTGGGATGTTTTTGCAGATGATGGGCTCCCGGAAGACAGTCCCCCCCAGGATGTTCCGGATAGTTCCATTGGGACTTTTCCACATCTTCTTCAGCTTGAACTCTGTGAGGACAGAGATAATAGTGGTCCCACTGCAGCCGCCATCTTTCAACCAGAATTTGAACCCCAAGCAACAACACAGCCAGACGGGGGTCCTAAAATTCTTCATGAGGAAGGCAGTAGAGTCTAGAGTGCAAATGTGTGGGCTCTGGAGTCTGCCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCCTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAATTACAGGCATGTGACACCACACCAAGCTAATTTTGTATTTTTAGGAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGACCTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCAAGTCTGCCAGTTTTAATGGTGAGGCTTACAAAAGTGGCTCAACCAAAGCTGTAAAAAAAAATTACTGGAAAAATAACCAGCCTAAGTGTTGTCGTGAGGACGAAATGAGCTCGTGTGTAAAGGGCCTAGAACGGTGCCCGGTCCATGCTAAGTGCTCTGTTGGCCATTATGATTCCCACATCACACATGGAGGGAGTACAGTCCGGGGGAAGGACTTGTCTGACGAAGCCTGACAACACACTGCCCACTCCACATGCTCCGGTCCTGGCCCCAACGCCACCCCAGTTCCTAAGGCTGTGACCCTCTCCTGCCTTGTCCATAAATGGGGATACACAACTCCCAAGGTTCAGGTGAAATGAAGAGCTCAACACTCAAATGATCCCAGTGCTGTGGGTCAGGCATGACCTGCAGGACAGGGGCAGGCCTGGGGAATTTGCAGATGTATCTCGAGTACTTTCCGCCAGCTCCCTCCAACTGTGGAAAGTAGGAAGAGAGAGCTCAGAAAACTCCTCAACCATCCTTTCTCGAATTATCCAAACCTGGCCCCTCTGCACACACACTGCTGTGACTTCATGGAACCCTCGAGAGCGGCCCCAACAGCCAAGGACCAGAAGCCAGTCTAGGCCTGGTGGGGGCACCTCTCAGTGACCCTGCATGACCATGGGGACAGAGGCAGACCTGCAAGGCCAAGCCAGTGGCAGGAGGGCAACAGCAATGTTCCCCAGAGGCTGCTGAGGCTCTGAAGGACACAGGCCTTACACACAGCACTCCTCTGCACAATCTCTCTGCATACCTGCCTGCAAGACTGTCCACGCCAGAATGGACTACTGCCCAAAGAAGCCATCCTTACTGTGACCACATCAGCATTACCTTCCTCCTCCTCCTCCTCCTCAGCCCTGTCACCGATGACACCTACCACTGTCAGAGCCAGAGTGAAGCAGAAACACCACTGGCCTGGGAGATGGAAGACATGGATTCTGTTCTCAGCTCTGCTGTGCCCTAACCGTGGAACCTGAGGCCAGCCCCTTACCCACGCCTGCCCCAGCCTCATCAAAGGTGACCTCTGAGGCCCCACTGTCCACCAGGCACACACAGGGAGACTGGCCTCAGGTGCAGTTGGCCTCAGGAAAGCCCCAGCTCTGGAGCCTCCCAACCTCCCAGTCCCGAGATGAGTGACATGGCCAACTGCCCCACCCCAAGTCTGGAGAGGCCGGTGGGAGAAGCCTGTGACCCTCCCTGGCCCGCCCACCTCCACACCCTCGCACCTTCCACACGGGCCTCATCAGGGGTGATGGTGGCACACTTGACAGCCACACTGTACTTCTGGGTGGCCAGTGCAGAGTCAATGGTGACCTGGTCATCAGTCTGGTCACGGTTTGGGAGCCCGAGGTCAAAATACTTTAGCTGGATGTCCACGTGGGGCAGGATGAGCTGGGGACAGAGGGCCAGAGCAAGGCGTCACCCCAGTGACTCAGGGACATGACAACAAAGGGCAGGATAAGAAGTCTGCAGGCCATGGCAGGGGACAGTCAGTCAA 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TTTTACTGCAATCTGATTTGTCTTTTAGGACACCCTAGGGCTTGGGGGTTTGCAGGCTTCCCCAACATTCTCTTCCATCCATTAGGTTCACTATGCAAAATGCATTCGCTGTAGTTTAAAGAACCTCCAGTCCCGCTTGATCCCATTTTCCTACTGGAACCAAAGAGTCATGAGGCTCCATCATGGACTGGAGCAACCTTAGGGCTGTCAACCTAGCCCTGGAATTCCTGTGCCCTCCTTTCTCTCTAAGAGCAGCCTCAGTCATACACCAGTCCAAACCTAATTTGTGATCCTCTCTCACTCAGATGCCAGGGAGCTCCTGCCCCCTGCTGTCCACAGAGGACCCTGCAATGAGTCCTGCTCCACTAGAGTTTTCTACCAAAAGGGTCTGAAAATCCCTCCAGCCAGAGAAGACCAACAGTCCACCCCCACAGGGAGCAGCGTCCTCCCAGCGTACCCTGGGCCAGGATGTCTGACTGCACATCTCCGTCATAGTTCTTGCAGGCCCACACAAAGCCACCCGAAGACTTGAGGACCTGAGCCACCATGTCATCAATGAGCCGGTGCTCATACCAGATCTTATTCTTGTCGAAGTCGGTCTTATAGTGCCTGGGAGTAAAAAGGTCTGTTATGGGGAGAGGGCAGAAGGCTGACAGGTTGGGGATCCCTCCCTGAGCCTCGGAGCTGAGCCAAATGCACTCTAATAGCGACCTTCCCAGGGTAGGATGGGAACAGCATGGGGGGAAGGGAAGAAAGGCCACAGAGTACATGGATGAGGCTTTACTTGTCAAAGATCTCCTGGAAGATGTCCTTGAAACGCCCATCGTAGGCTTTCAGTATGGTGTTCTTGGTGCTCATGTACAGCGGCCATTTCTTCTGGATGGCATACTGGAAGCAGCTGTGCGCAAAACCTGAGATGGACTGCAGGGGGAGAGACAGGGCCCTGGCGTGGTGCCCTAGCCTGGCGATTGCCGGCAACCTCCCACCTCCCAGGGCAAGGCCCAGCTCTCCAGGAACGGTACCCCGCCGCCCACGCGACTGTTTAACACCAGCCTCCGTGCAGTGCACACGATGTTTCTGCTGGCCCAGCCTCTCCCTCTCAACTTTGCTTTGTAAAACACCGCCTTTTTTTTTTTTTTGGAAAACACCGCCTTTTTTTTTTTTTTTTTGGAAACAACTTTTTTTTGGAAAGCACCGCCTTAGACTACATGTGGCTGGGGCAGGGCTAATTCCCAGGCCTAGCGCTGGGGTTGACAGTGTGTCCCTGGCTTATCCAATCAGAAGCCTTTCTCCCCAGGGCCTCTGTGATTGGCTCAGAGGTGGTCATGTGACTCAGCCTGGCATTGGAGCTGGAACTGGGGATAAAGAGGCATTCTCTTCTGATAGGGTAGCCAAGCAGGCAGGAGTACGCCTGGAGCTGCTCGTGGCCATTTCTTTTCTTTTCTTTTCTTTTCTTTTTGTTTCAAGAGATGGGGTCTCACTGTTGCCCAGGCTGGTCTCAAACTTCTGGTCTCAAGCAATCCTGCCTTGGCCTCCCAAAATGCCGGGATTACAAGTGTCAGCCACCATGCCCAGCCCTGGTGGCCATTTCTGCCTCTTTGTGGCCTAAGAATGAGGCCATTACAGAAGAAAGGAAAGCCACGAGACAGAGATGAAGAGACAAGCTGGGAGAGGAGGGGCCCAGGATGCCCAAGCCAGCCTCACCTCGTCGGTGTTGTACATGCCCATGCCCACGCCGCCTGCGGGGAAGTTGTACACTTCCCACTCCTTGACACCACTGCCATCTTTTGGGGTGAAGACCATTTTGAAAGTGCCGGCCCGGTCTGCCACAAAGTCTGTGGCCTTGTACTGCAGAGACAAGAGGATGGCTAGGCGAGGAGCTCCAGTCGGGGGGTGCCCAGGTCAGTGGATCCCCTCTCCACCCTGGCCTACCTGGTCGCCATGGGCGTGCCTGCCAATGGTGATGGGCTTGGTCCAGCCAGGGACTAGGCGTGGGATGTTTTTGCAGATGATGGGCTCCCGGAAGACAGTCCCCCCCAGGATGTTCCCGATAGTTCCATTGGGACTTTTCCACATCTTCTTCAGCTTGAACTCTGTGAGGACAGAGATAATAGTGGTCCCACTGCAGCCGCCATCTTTCAACCAGAATTTGAACCCCAAGCAACAACACAGCCAGACGGGGGTCCTAAAATTCTTCATGAGGAAGGCAGTAGAGTCTAGAGTGCAAATGTGTGGGCTCTGGAGTCTGCCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCCTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAATTACAGGCATGTGACACCACACCAAGCTAATTTTGTATTTTTAGGAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGACCTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCAAGTCTGCCAGTTTTAATGGTGAGGCTTACAAAAGTGGCTCAACCAAAGCTGTAAAAAAAAATTACTGGAAAAATAACCAGCCTAAGTGTTGTCGTGAGGACGAAATGAGCTCGTGTGTAAAGGGCCTAGAACGGTGCCCGGTCCATGCTAAGTGCTCTGTTGGCCATTATGATTCCCACATCACACATGGAGGGAGTACAGTCCGGGGGAAGGACTTGTCTGACGAAGCCTGACAACACACTGCCCACTCCACATGCTCCGGTCCTGGCCCCAACGCCACCCCAGTTCCTAAGGCTGTGACCCTCTCCTGCCTTGTCCATAAATGGGGATACACAACTCCCAAGGTTCAGGTGAAATGAAGAGCTCAACACTCAAATGATCCCAGTGCTGTGGGTCAGGCATGACCTGCAGGACAGGGGCAGGCCTGGGGAATTTGCAGATGTATCTCGAGTACTTTCCGCCAGCTCCCTCCAACTGTGGAAAGTAGGAAGAGAGAGCTCAGAAAACTCCTCAACCATCCTTTCTCGAATTATCCAAACCTGGCCCCTCTGCACACACACTGCTGTGACTTCATGGAACCCTCGAGAGCGGCCCCAACAGCCAAGGACCAGAAGCCAGTCTAGGCCTGGTGGGGGCACCTCTCAGTGACCCTGCATGACCATGGGGACAGAGGCAGACCTGCAAGGCCAAGCCAGTGGCAGGAGGGCAACAGCAATGTTCCCCAGAGGCTGCTGAGGCTCTGAAGGACACAGGCCTTACACACAGCACTCCTCTGCACAATCTCTCTGCATACCTGCCTGCAAGACTGTCCACGCCAGAATGGACTACTGCCCAAAGAAGCCATCCTTACTGTGACCACATCAGCATTACCTTCCTCCTCCTCCTCCTCCTCAGCCCTGTCACCGATGACACCTACCACTGTCAGAGCCAGAGTGAAGCAGAAACACCACTGGCCTGGGAGATGGAAGACATGGATTCTGTTCTCAGCTCTGCTGTGCCCTAACCGTGGAACCTGAGGCCAGCCCCTTACCCACGCCTGCCCCAGCCTCATCAAAGGTGACCTCTGAGGCCCCACTGTCCACCAGGCACACACAGGGAGACTGGCCTCAGGTGCAGTTGGCCTCAGGAAAGCCCCAGCTCTGGAGCCTCCCAACCTCCCAGTCCCGAGATGAGTGACATGGCCAACTGCCCCACCCCAAGTCTGGAGAGGCCGGTGGGAGAAGCCTGTGACCCTCCCTGGCCCGCCCACCTCCACACCCTCGCACCTTCCACACGGGCCTCATCAGGGGTGATGGTGGCACACTTGACAGCCACACTGTACTTCTGGGTGGCCAGTGCAGAGTCAATGGTGACCTGGTCATCAGTCTGGTCACGGTTTGGGAGCCCGAGGTCAAAATACTTTAGCTGGATGTCCACGTGGGGCAGGATGAGCTGGGGACAGAGGGCCAGAGCAAGGCGTCACCCCAGTGACTCAGGGACATGACAACAAAGGGCAGGATAAGAAGTCTGCAGGCCATGGCAGGGGACAGTCAGTCAA 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Task1_train_21914 | Chromosome 15 houses a mutation in gene BLM (BLM RecQ like helicase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bloom syndrome | AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGTAGTATAACAATGGTAATTATTATAGATAAGTGTTTATTTAGCCCTTCCTATGTGCCATTCTAAATGCCTTACATGTATCATCAACTAATTTCATCTTCACAATAACCCTCAGAGATAAAACCTTTGCTTTCCTCATTTTACAGAGGAGGAAAATGAAATGCAGAACTAGTAAATGGTAGAGCCCTGACAGAACCCAAGTTCGTCTGATTCCAAAGTCCATGTTCCTTGCACTATACCAAAGTGATTCTCAGTGAAGAAAATTAAATATTTACACTTGGTTTGCCCATTTGTGTTTTTTTTAAAATCTATATTAAAGCTAGGCCCAAACATGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAAAAAAAAAAAAAATTTAGGCCCAAACAATTTAATAGATATTTAAGTCCTGATAGCAGCAACTATTTGGGGGAAAAATACTCATAAACTGGAAGAAAAAAATAATATTTTTTAAAAATTATTTTCTTTTTTTTTTTTTTGAGACGGAGTTGCGCTTTTGTCACCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTACAACCTCCACCTCCTGGGTTCAAGCGATTCTCAGCCTCAGCCTCCCGACTAGCAGGGATTACAGGCTCGCACCACCACACCCAGCTAATTTTTGTATTCTTAGCAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGTACCTGGTGTTAAAATTCTTAAGTAACAACAGTTGCTTACTGATGGAAAGTATGCCACTGCTGTTCTCACACATTGGAATCAAATCCGACACTGCCACCCTCATTTCCTGTTTCACATTGATTTTCTTGAGATACTTCTTTTTATCATAGCAACTGCGAAAAACCCAGCTTTGCAAAGATGAGATATTGCTAATAGGAATGTAGCACAATCTAATGTTAATACCATTAACTACCTCAAGCTAATAATTTGGGTGATGTTCAACAGATGTTAGGCATTGCTGTGTTTCCCTTCATGTAAAATATTCTGTCTCTGTGAGTTCACCACAGCACCCCCGGGCTTGTTGGCACACAATTTTGGAACCACTGGTGTAACTACTTTGACCTCAGATACTCAGAGAAGTGCATGGCCACTGCCGTAATCTCAGGCTCTGCTTCCTCAGGATGTTCAGTTCGGTGGATGCTCGACTGATAAATACAGCAAATATAAGTCAAACCATCATCATTGGGGATAATGAAGATTTGAAAAAAAAAAACCTAACATTTATTCCTATAGTACTAAAATCTTGAGGATGAACATTAATACTCAGTTAATTATAATATAGAATGCCATGTTGACAATGCTGTTAACAGTAATTTTCTTATTTAATATTTAAAGTTATATGAATCTATTCTAAATATTTCTATGATATGCTCTATTTTTCCCCTATAAGTATGTCTTACTATAGTCTTCATCTCTTTTAGTGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCATGGTACATTACTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTTAATCCTGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGTAAAAAAAGAAGTTTTAAAATTCTTTATAATTAAATTTTTTTTCTCTTACTTTAAAAATGTAGATACAAATTAGATTGCAAAAGGTGGTCTCCGACAGATTAACAGGGGAAAGACAGCTTCCTTCCAGTAGTAATTTGGAATGGAAACATTTAAAAAGTAATTTCATGCGGTATCTTTTCTTTATAATTAGAACCCTGTTAAAAAATATAATGGACATCAGCATATCCAGAATATTGAGTTTATATATGTGCACTGATGATTACAGAATATTTTAGAAATATTAATATGCAAACATCCAAAAAGATCCAACATGGGCAGGTAGAATATTTTAAATTTAATATATTAATGTTATTAATATAATACATTATATTAAAAATTTAATTGATTAAATTAAATATATTAAAATTGACGTATTAATATTTAATATTTTAAATATTTAATTAATATACTAAAAATCTCATTCTCAAAAGAGTAATAACTAGTGTACCGTATGTTTGAATTCAAATCAATTACATTACTCTTTTTTTTTAACTATAAAGAATAACAGTAACTGCTTGTGGATAAATTCACTATTATCTGTCCTAAAATACCCTTGGAAGGTTGTTAAATTCAGTCATTAGGTACTTATTTTACCTATCTTGGTAATTCTACATTTTAATGTCTACTGTAACCTACTGCTTACTGAGCATTTTCACGTTTGGTGTATTATTTACCTATCTGGGAGTATTAGACTTATATGTGCAAGATGCTGGAGAGCCACAAGTGACCATGGTATGGACCAATTCATAGACTGGAGTGGAGACCGACATACATGTGTTCATAGAAGTTTAACACTCTGGCTTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACCTGAGGTCAAGAGTTCAAGACCAGCTTGACCAACATGGTGAAACCTTGTCTCTACTAAAAAAATACAAAATTGGTCGGCTGTGGTGGCCCATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCAAAAAAAAAAAAGTTTAGTACTCTCAGTAAGTATAGTTAAAAAATACAGAGCACAGGGCAGAACAGAGGGTAGTCTCTCTCAGTGTGGAACTGGCAAATTCATGCCATCTCCTCCCACCCCACCCCATCCCTTAAACATTGCTATCAGTTCCCTCATTCAACAGATATTTGTTGGGCTGTGTAACAGGCACTGTTGTAGGAATTTGGGATACATCACTAAACAAAATGAAAATCCCTGCCCTTGTGGAGCTTACACTCTAGCAGAGGGAGGCCAGTTACAAACAATATACACAATAAATATACATGAAAGGATAAGAGCTGTGGTGAATGGCACAGCAGAGTAAAAAGACAGGAGGAATGGGTAGAGTGCAGGATGCAGTATTAGACGGGGTGGTCCTTGGAAGTCTAACTGAGAAGATGGGAGCTGAGGAAAATCTTGAAGAAGGGAGTTAGCTGGCAGCTCCCTGGATGTGAGCTTTCCTGCAAGAAGCTTTGGCTAGAGCAAAGGCCCTAAGGTGGGGGTGTGCCTGGTGTGTTCGAGAGATGGCAAGGGAGCCCATGTGGCTGAGCAGGATTAAGAGCCAGTGAGGGGAAGAGGTGATGGAGAGCCAGAGCAGTCAGTTGAGGGCTAGAGTCCCAGAGTAACTGGAGGCCTGAGTAACTGGAAGGATGGAGTTATCCTTGGCTAAGATGCAGAAGGCTGGTTGGCAGAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAA 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AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGTAGTATAACAATGGTAATTATTATAGATAAGTGTTTATTTAGCCCTTCCTATGTGCCATTCTAAATGCCTTACATGTATCATCAACTAATTTCATCTTCACAATAACCCTCAGAGATAAAACCTTTGCTTTCCTCATTTTACAGAGGAGGAAAATGAAATGCAGAACTAGTAAATGGTAGAGCCCTGACAGAACCCAAGTTCGTCTGATTCCAAAGTCCATGTTCCTTGCACTATACCAAAGTGATTCTCAGTGAAGAAAATTAAATATTTACACTTGGTTTGCCCATTTGTGTTTTTTTTAAAATCTATATTAAAGCTAGGCCCAAACATGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAAAAAAAAAAAAAATTTAGGCCCAAACAATTTAATAGATATTTAAGTCCTGATAGCAGCAACTATTTGGGGGAAAAATACTCATAAACTGGAAGAAAAAAATAATATTTTTTAAAAATTATTTTCTTTTTTTTTTTTTTGAGACGGAGTTGCGCTTTTGTCACCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTACAACCTCCACCTCCTGGGTTCAAGCGATTCTCAGCCTCAGCCTCCCGACTAGCAGGGATTACAGGCTCGCACCACCACACCCAGCTAATTTTTGTATTCTTAGCAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGTACCTGGTGTTAAAATTCTTAAGTAACAACAGTTGCTTACTGATGGAAAGTATGCCACTGCTGTTCTCACACATTGGAATCAAATCCGACACTGCCACCCTCATTTCCTGTTTCACATTGATTTTCTTGAGATACTTCTTTTTATCATAGCAACTGCGAAAAACCCAGCTTTGCAAAGATGAGATATTGCTAATAGGAATGTAGCACAATCTAATGTTAATACCATTAACTACCTCAAGCTAATAATTTGGGTGATGTTCAACAGATGTTAGGCATTGCTGTGTTTCCCTTCATGTAAAATATTCTGTCTCTGTGAGTTCACCACAGCACCCCCGGGCTTGTTGGCACACAATTTTGGAACCACTGGTGTAACTACTTTGACCTCAGATACTCAGAGAAGTGCATGGCCACTGCCGTAATCTCAGGCTCTGCTTCCTCAGGATGTTCAGTTCGGTGGATGCTCGACTGATAAATACAGCAAATATAAGTCAAACCATCATCATTGGGGATAATGAAGATTTGAAAAAAAAAAACCTAACATTTATTCCTATAGTACTAAAATCTTGAGGATGAACATTAATACTCAGTTAATTATAATATAGAATGCCATGTTGACAATGCTGTTAACAGTAATTTTCTTATTTAATATTTAAAGTTATATGAATCTATTCTAAATATTTCTATGATATGCTCTATTTTTCCCCTATAAGTATGTCTTACTATAGTCTTCATCTCTTTTAGTGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCATGGTACATTACTGTGAAAATATAACGGAATTCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTTAATCCTGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGTAAAAAAAGAAGTTTTAAAATTCTTTATAATTAAATTTTTTTTCTCTTACTTTAAAAATGTAGATACAAATTAGATTGCAAAAGGTGGTCTCCGACAGATTAACAGGGGAAAGACAGCTTCCTTCCAGTAGTAATTTGGAATGGAAACATTTAAAAAGTAATTTCATGCGGTATCTTTTCTTTATAATTAGAACCCTGTTAAAAAATATAATGGACATCAGCATATCCAGAATATTGAGTTTATATATGTGCACTGATGATTACAGAATATTTTAGAAATATTAATATGCAAACATCCAAAAAGATCCAACATGGGCAGGTAGAATATTTTAAATTTAATATATTAATGTTATTAATATAATACATTATATTAAAAATTTAATTGATTAAATTAAATATATTAAAATTGACGTATTAATATTTAATATTTTAAATATTTAATTAATATACTAAAAATCTCATTCTCAAAAGAGTAATAACTAGTGTACCGTATGTTTGAATTCAAATCAATTACATTACTCTTTTTTTTTAACTATAAAGAATAACAGTAACTGCTTGTGGATAAATTCACTATTATCTGTCCTAAAATACCCTTGGAAGGTTGTTAAATTCAGTCATTAGGTACTTATTTTACCTATCTTGGTAATTCTACATTTTAATGTCTACTGTAACCTACTGCTTACTGAGCATTTTCACGTTTGGTGTATTATTTACCTATCTGGGAGTATTAGACTTATATGTGCAAGATGCTGGAGAGCCACAAGTGACCATGGTATGGACCAATTCATAGACTGGAGTGGAGACCGACATACATGTGTTCATAGAAGTTTAACACTCTGGCTTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACCTGAGGTCAAGAGTTCAAGACCAGCTTGACCAACATGGTGAAACCTTGTCTCTACTAAAAAAATACAAAATTGGTCGGCTGTGGTGGCCCATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCAAAAAAAAAAAAGTTTAGTACTCTCAGTAAGTATAGTTAAAAAATACAGAGCACAGGGCAGAACAGAGGGTAGTCTCTCTCAGTGTGGAACTGGCAAATTCATGCCATCTCCTCCCACCCCACCCCATCCCTTAAACATTGCTATCAGTTCCCTCATTCAACAGATATTTGTTGGGCTGTGTAACAGGCACTGTTGTAGGAATTTGGGATACATCACTAAACAAAATGAAAATCCCTGCCCTTGTGGAGCTTACACTCTAGCAGAGGGAGGCCAGTTACAAACAATATACACAATAAATATACATGAAAGGATAAGAGCTGTGGTGAATGGCACAGCAGAGTAAAAAGACAGGAGGAATGGGTAGAGTGCAGGATGCAGTATTAGACGGGGTGGTCCTTGGAAGTCTAACTGAGAAGATGGGAGCTGAGGAAAATCTTGAAGAAGGGAGTTAGCTGGCAGCTCCCTGGATGTGAGCTTTCCTGCAAGAAGCTTTGGCTAGAGCAAAGGCCCTAAGGTGGGGGTGTGCCTGGTGTGTTCGAGAGATGGCAAGGGAGCCCATGTGGCTGAGCAGGATTAAGAGCCAGTGAGGGGAAGAGGTGATGGAGAGCCAGAGCAGTCAGTTGAGGGCTAGAGTCCCAGAGTAACTGGAGGCCTGAGTAACTGGAAGGATGGAGTTATCCTTGGCTAAGATGCAGAAGGCTGGTTGGCAGAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAA 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Task1_train_21915 | Here is a variant affecting UNC45A (unc-45 myosin chaperone A) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteootohepatoenteric syndrome | TGGAGTGAGCTGTGGAAAGGCCCCTCCTGCTTGTCTCTAGCACCCCCACCTCTCTCTTCAGCTCTGGTCCACCACCCTCACTTGTGCCAGACCACCCGGGATGTCCATGGCCGTCACTACCCTGGTTTCTTTTGCCCTCGTCTGTCTGATTCTCCAGAGGAAGCCTACTGCTGCCACCTGCAGGCTGCAGGGGGCTCCTGCTGCACCCGGGCTGAATTTGAGGCCCTGTACCAAGTCAATCTGTCCGCTCTTCCGCCCCCGCCCATCCTCAGGTGAGATCTCCAACCCCAGAGCCACTGGAACATCGACAGGGTGTTCCAGTATCTGGGGCTCTGTTCCTAAATTATGGGGTGGTAGGCTTGTAACTTACAGACTAGTGAAGGGACAGACCGCAACAGAAAATCATGTAGATCATGATTACAATTACAAAGGAGAAGTTCAGGGGGCTGTGCAAGCTGGTAATGGGGAGCCATCCTGAATCTGCCCATGGGTGGCTCTAGGATGAGCTCCTAAATTCGTATGCAAATGTGTGTATGTAAGACGACACTTATTTGGGGAGGGAGTCCTGAGCTTTCTCCGGACTCCCAGGGATTCTGTACCCCCCACAGAGCGCAGCAGCGAGAGCGCGGTCGGGGCCGGGATCCAGATACTTTTTCTCTCCCGCAGGGGCCCAGGCCCGCTCCTAGTGCTGGGCCTCTACAACCTACTGGTTGTGACCCTGATGACCGTAGACCTCGTGCACTTCTGCTGCGGTCGGGGCCGGAGTCTGGGCTGGAGCCACCGCAGGCCTCCCTCTGGGTCCTCCGCCGCGAGCTCCCTGCAGGTCTCTGCGGGGACAGCTTAGGTGCGCCCGGAGCTTGCCTGCACCTGCGATCCAGAGCCAAGCGCCCCGCCCCTGCCCGGGCGCGCTCCCTCCTTAGCCCTGCCCCTCTCTGACCCCACCTCCGACGCAAGAGTGGGGCGGGGCAGCTGCCGGTGGCGTCCCGAACCCAGACTCGCCCCGCCCCAGAGACTGCGCCTGCGCGGGCACGAGACAACCTCTCCGCGATGACTGTGAGTGGTCCAGGGACCCCCGAGCCCCGGCCGGCCACCCCCGGGGTGCGTACCCAACCCCCGCGCCATCACCCCTTCGCACCCGCCCTGACCATCCCTGGCCTCCTTCTCCCCATCCATGAGGCTCGCCCCGATCCCTCCTCTCCTCTCCCCTTAGCTCCCGGGCTCTGCCCCGAACCCCCTCCGACGTTTCCGCCCCCTTTCTCTCTACAGGCCAGCTCAGTGGAGCAGCTGCGGAAGGAGGGCAATGAGCTGTTCAAATGTGGAGACTACGGGGGCGCCCTGGCGGCCTACACTCAGGCCCTGGGTCTGGACGCGACGCCCCAGGACCAGGCCGTTCTGCACCGGAACCGGGCCGCCTGCCACCTCAAGCTGGTGAGGGAGCCTGGCGCTCTTCCCCTCGCCCGCCCGGGCCCCGGTTCGCCCATCTAAGCTGATGCTTGGGCCCCAGCTGGACATTCACGCTCCCAGGCCATCCCCGCTTGCCAGATGTTTTTTGCACCTCAGGGTGGTGGGGGATCGGGTGACCTTGGAGAGCGAGAGTACCCCTGCTGCCTGGTTAGTGCCCCGAGAGGGAGATGACCATTCCTTCAGGCTCCTGTCTTTCTCTTACAGGAAGATTACGACAAAGCAGAAACAGAGGCATCCAAAGGTAGGGGAATGGTGGGCCCTGGTGTGGAGCTGTAGGGCTTCTGTGGTGGGCAAGGACTCTGGGACCGCTGCACCGTCACATTCTCCTCCTTTGGCCCCAGAGACACATCTGCCTTCTTTCTTTCCCACTGCCTCGGGCCTTTCCTTTTCTGCAGCTACCCTCACCTTTTCTGAGGCTGAAGCACCGAGCCCCACATTCGTCCCCCCCACCTTCTTCTGGCCTTTCCTCGAGATCTTTCCCTACTGCTCTTGCCTGGAGACAGTGGCCTCATGGGTGCTGACAGCGCTCCTGTTTGTGCTCAGCCATTGAAAAGGATGGTGGGGATGTCAAAGCACTCTACCGGCGGAGCCAAGCCCTAGAGAAGCTGGGCCGCCTGGACCAGGCTGTCCTTGACCTGCAGAGATGTGTGAGCTTGGAGCCCAAGAACAAAGTTTTCCAGGAGGCCTTGCGGAACATCGGGGGCCAGATTCAGGAGAAGGTATGTGAGTGACCCAGAGAGGTGGAAGCATTGACTGGTGGTGAAGGGGTCTGGGCCAGGGGTGTAGACACAGTTCTCCAGACGAGATCCCGGTGGCAAGTGAACCTTGCCTGTGGCCAGGGAAAAGCAAATTAAGATGACAGCACATTACTGTTGATTTGGAGGTCTGTCTGGCAGATATTTAAAAGTTTGTACACTTTTCGAGAAGGAGAGAGGCAGACACATCAGTGGTGAGGCTGGGGGCCAAGGGCTCTCTGATGACTGCTGGAGGGGTATAAATTGGTACAGCTCTTTTCGAGAGTACTTTAGCATATCTATTCAATTTCAAATGAGCGTATCTTGTGATCCCATATGTTTACTTCTTGCTGTTTCTCTCAGAGAAACCTTGTCCACGTGCACAAGTAGACATGTGTATGTTTATTTCAGCCTTTTTTGTAGTAAGAAAAACTTGGAACTTGCCTGAATGCCCAGCCATAGAGGAATGGCTGAATAAATGGGTAATGTCCTTACTACAGACTCTTATATAGTTACTGAGAATAGGTAGATACACACATATTGAAATGGGAAGCTCTGGGACACTTGTTGAATGAACAAAGCAAAATAGGCAGGGCATGGTGGTTCATGCCTGTAATCCCAGTGCTTTTGGAGGCCAAGATGGGATGATCACTGGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTGTTGCTACCAAAACCTAAAAAGTTAGCTGGGTGTGGTGGCACACCCTTGTAGTCCCAGCTACCTGTGAGGCTGAGGCAGGAGAGTCCTTTGAGCCCTGGATTTTGCAGTTACAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGGCCCTGTCTCTTTCAAAAAAGAAAAGAAGAAGAAAAATATACAATAACACATATAGTATAATATCATTTATGTTAATGATCCCCTACATAGCAAAACAATGCTATATTTTTTCTGTGGGTACACTTGGGTATGTAAATACAAAGGAAAATAATTGTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCACACTGGAGTGCAGTGGTGCGAACTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGTCCCCCAGGTAGCTGGGACTACAGGGGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGCGGTTTCACTGTGTTGGCCAGGATGGTCTGGAGCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGCACCCAGCCGAAAATATTTTATTTTTTAAATTTATTTTTATTTTTATTTATTTATGTATTTTGAGACGGGGTCTCACTCTGTCACCCATGCTGGAGTACAACCTCTTCCTCCCGGGCTCAAGCAGTCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACAAATGCATGTCACCACGCTCGCCTAATTTTTATATTTTTTGTAGAGACAGGGTTTTACTGTGTTGCCCAGGTGGCTGGTCTTGAACTCCTAGGCTCAAGGGATCTACTCACCTCAGCCTCCCAACTGGCTGGGATAACAGGCGTGAGCCATGGCACTGGGCCAAATATGCATTTTTGTTTCTTTATTTTTTCAGGAAAATATTTTAAAAGATATACATCAAAATGATAACACGGTGACCCCTGGGGAAAGGAATGGGATTGAGAGGGCTTTCCAAAGGAGACTGCATCACCTGTTCATATTTTTTTAATAAAGAGAAATTGTGTAAAATACGTATATTTTTAAATTAGGAGAAAAGAATCTAAAGACCATTATGAGCTACAACCAAGCTCAAATTCGCCAGATAATTTGACGTTAAAATGCTGACACAGTGGAAGCAGA 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TGGAGTGAGCTGTGGAAAGGCCCCTCCTGCTTGTCTCTAGCACCCCCACCTCTCTCTTCAGCTCTGGTCCACCACCCTCACTTGTGCCAGACCACCCGGGATGTCCATGGCCGTCACTACCCTGGTTTCTTTTGCCCTCGTCTGTCTGATTCTCCAGAGGAAGCCTACTGCTGCCACCTGCAGGCTGCAGGGGGCTCCTGCTGCACCCGGGCTGAATTTGAGGCCCTGTACCAAGTCAATCTGTCCGCTCTTCCGCCCCCGCCCATCCTCAGGTGAGATCTCCAACCCCAGAGCCACTGGAACATCGACAGGGTGTTCCAGTATCTGGGGCTCTGTTCCTAAATTATGGGGTGGTAGGCTTGTAACTTACAGACTAGTGAAGGGACAGACCGCAACAGAAAATCATGTAGATCATGATTACAATTACAAAGGAGAAGTTCAGGGGGCTGTGCAAGCTGGTAATGGGGAGCCATCCTGAATCTGCCCATGGGTGGCTCTAGGATGAGCTCCTAAATTCGTATGCAAATGTGTGTATGTAAGACGACACTTATTTGGGGAGGGAGTCCTGAGCTTTCTCCGGACTCCCAGGGATTCTGTACCCCCCACAGAGCGCAGCAGCGAGAGCGCGGTCGGGGCCGGGATCCAGATACTTTTTCTCTCCCGCAGGGGCCCAGGCCCGCTCCTAGTGCTGGGCCTCTACAACCTACTGGTTGTGACCCTGATGACCGTAGACCTCGTGCACTTCTGCTGCGGTCGGGGCCGGAGTCTGGGCTGGAGCCACCGCAGGCCTCCCTCTGGGTCCTCCGCCGCGAGCTCCCTGCAGGTCTCTGCGGGGACAGCTTAGGTGCGCCCGGAGCTTGCCTGCACCTGCGATCCAGAGCCAAGCGCCCCGCCCCTGCCCGGGCGCGCTCCCTCCTTAGCCCTGCCCCTCTCTGACCCCACCTCCGACGCAAGAGTGGGGCGGGGCAGCTGCCGGTGGCGTCCCGAACCCAGACTCGCCCCGCCCCAGAGACTGCGCCTGCGCGGGCACGAGACAACCTCTCCGCGATGACTGTGAGTGGTCCAGGGACCCCCGAGCCCCGGCCGGCCACCCCCGGGGTGCGTACCCAACCCCCGCGCCATCACCCCTTCGCACCCGCCCTGACCATCCCTGGCCTCCTTCTCCCCATCCATGAGGCTCGCCCCGATCCCTCCTCTCCTCTCCCCTTAGCTCCCGGGCTCTGCCCCGAACCCCCTCCGACGTTTCCGCCCCCTTTCTCTCTACAGGCCAGCTCAGTGGAGCAGCTGCGGAAGGAGGGCAATGAGCTGTTCAAATGTGGAGACTACGGGGGCGCCCTGGCGGCCTACACTCAGGCCCTGGGTCTGGACGCGACGCCCCAGGACCAGGCCGTTCTGCACCGGAACCGGGCCGCCTGCCACCTCAAGCTGGTGAGGGAGCCTGGCGCTCTTCCCCTCGCCCGCCCGGGCCCCGGTTCGCCCATCTAAGCTGATGCTTGGGCCCCAGCTGGACATTCACGCTCCCAGGCCATCCCCGCTTGCCAGATGTTTTTTGCACCTCAGGGTGGTGGGGGATCGGGTGACCTTGGAGAGCGAGAGTACCCCTGCTGCCTGGTTAGTGCCCCGAGAGGGAGATGACCATTCCTTCAGGCTCCTGTCTTTCTCTTACAGGAAGATTACGACAAAGCAGAAACAGAGGCATCCAAAGGTAGGGGAATGGTGGGCCCTGGTGTGGAGCTGTAGGGCTTCTGTGGTGGGCAAGGACTCTGGGACCGCTGCACCGTCACATTCTCCTCCTTTGGCCCCAGAGACACATCTGCCTTCTTTCTTTCCCACTGCCTCGGGCCTTTCCTTTTCTGCAGCTACCCTCACCTTTTCTGAGGCTGAAGCACCGAGCCCCACATTCGTCCCCCCCACCTTCTTCTGGCCTTTCCTCGAGATCTTTCCCTACTGCTCTTGCCTGGAGACAGTGGCCTCATGGGTGCTGACAGCGCTCCTGTTTGTGCTCAGCCATTGAAAAGGATGGTGGGGATGTCAAAGCACTCTACCGGTGGAGCCAAGCCCTAGAGAAGCTGGGCCGCCTGGACCAGGCTGTCCTTGACCTGCAGAGATGTGTGAGCTTGGAGCCCAAGAACAAAGTTTTCCAGGAGGCCTTGCGGAACATCGGGGGCCAGATTCAGGAGAAGGTATGTGAGTGACCCAGAGAGGTGGAAGCATTGACTGGTGGTGAAGGGGTCTGGGCCAGGGGTGTAGACACAGTTCTCCAGACGAGATCCCGGTGGCAAGTGAACCTTGCCTGTGGCCAGGGAAAAGCAAATTAAGATGACAGCACATTACTGTTGATTTGGAGGTCTGTCTGGCAGATATTTAAAAGTTTGTACACTTTTCGAGAAGGAGAGAGGCAGACACATCAGTGGTGAGGCTGGGGGCCAAGGGCTCTCTGATGACTGCTGGAGGGGTATAAATTGGTACAGCTCTTTTCGAGAGTACTTTAGCATATCTATTCAATTTCAAATGAGCGTATCTTGTGATCCCATATGTTTACTTCTTGCTGTTTCTCTCAGAGAAACCTTGTCCACGTGCACAAGTAGACATGTGTATGTTTATTTCAGCCTTTTTTGTAGTAAGAAAAACTTGGAACTTGCCTGAATGCCCAGCCATAGAGGAATGGCTGAATAAATGGGTAATGTCCTTACTACAGACTCTTATATAGTTACTGAGAATAGGTAGATACACACATATTGAAATGGGAAGCTCTGGGACACTTGTTGAATGAACAAAGCAAAATAGGCAGGGCATGGTGGTTCATGCCTGTAATCCCAGTGCTTTTGGAGGCCAAGATGGGATGATCACTGGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTGTTGCTACCAAAACCTAAAAAGTTAGCTGGGTGTGGTGGCACACCCTTGTAGTCCCAGCTACCTGTGAGGCTGAGGCAGGAGAGTCCTTTGAGCCCTGGATTTTGCAGTTACAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGGCCCTGTCTCTTTCAAAAAAGAAAAGAAGAAGAAAAATATACAATAACACATATAGTATAATATCATTTATGTTAATGATCCCCTACATAGCAAAACAATGCTATATTTTTTCTGTGGGTACACTTGGGTATGTAAATACAAAGGAAAATAATTGTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCACACTGGAGTGCAGTGGTGCGAACTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGTCCCCCAGGTAGCTGGGACTACAGGGGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGCGGTTTCACTGTGTTGGCCAGGATGGTCTGGAGCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGCACCCAGCCGAAAATATTTTATTTTTTAAATTTATTTTTATTTTTATTTATTTATGTATTTTGAGACGGGGTCTCACTCTGTCACCCATGCTGGAGTACAACCTCTTCCTCCCGGGCTCAAGCAGTCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACAAATGCATGTCACCACGCTCGCCTAATTTTTATATTTTTTGTAGAGACAGGGTTTTACTGTGTTGCCCAGGTGGCTGGTCTTGAACTCCTAGGCTCAAGGGATCTACTCACCTCAGCCTCCCAACTGGCTGGGATAACAGGCGTGAGCCATGGCACTGGGCCAAATATGCATTTTTGTTTCTTTATTTTTTCAGGAAAATATTTTAAAAGATATACATCAAAATGATAACACGGTGACCCCTGGGGAAAGGAATGGGATTGAGAGGGCTTTCCAAAGGAGACTGCATCACCTGTTCATATTTTTTTAATAAAGAGAAATTGTGTAAAATACGTATATTTTTAAATTAGGAGAAAAGAATCTAAAGACCATTATGAGCTACAACCAAGCTCAAATTCGCCAGATAATTTGACGTTAAAATGCTGACACAGTGGAAGCAGA 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Task1_train_21916 | A mutation in UNC45A (unc-45 myosin chaperone A), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteootohepatoenteric syndrome | GAGAAGTTGAAGGGTCAAACTGGGCTGGGCTGCTGTGGAGCCCACTGATGTCTTCTTGTTGTTGCCAGATCCTGCCCGGGAGCTGAAGGTCCTCATCAGTAACCTCTTAGATCTGCTGACAGAGGTGGGGGTCTCTGGCCAAGGCCGAGACAATGCCCTGACCCTCCTGATTAAAGCGGTGCCCCGGAAGTCTCTCAAGGACCCCAACAACAGCCTCACCCTCTGGGTCATCGACCAAGGTAGGTGATATAGTTCACAAAAACTTGCTTCAGCAGCTGAAGTTTGTTTATTCTTAGGAGTAATAAGAAAAGTTGTGAGTGGGGCCAGGCATGGTGGATGACACACTTTGAGAGGCAGGGGGTCACTTGAAGCCGGGAGTTTGAGATCAGCCTGGGCAACATAGCGAGACCCTGTCTCTATGAAAAATTAAAAAAAATTAGCTGGGCATGGTGGTGTGCATCGGCAGTCCTAGCTACTCCAGAGGCTGAGGTGGGAGAATTACTTAACCCTGGGAAGTCAAGTCTTCAGTGAGCTGTGATTGTACCACTGCACTACAGACTGGGCAACAGAGGGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGTTGTGATTATCTCCAGCCACGTGTCTGCACTGAAGTGCGTCCTGTGGCCCAGGAGGATGCTGGAGCTGAGAAGATCTTCCAGAGCAATGGGATTCAGCTCTTACAACACCTTCTAGACACAAGAGCTACCCTTAGGGGGCTCAAAGTTAGACTCTTCTATCATATGCGTGTGCACATACATGCACATTGAGCGGGCCTGCAAGCAGGTTAGCAGAGAGGCTGGATTAGCTTTCTGTATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAGCCTCCGTTTCCCGGGTTCAAGCAAATCTCCTGCTTTAGCCTCCCGAGTAGCTGGGATTATAGGCACGCATCAGTATGCCCGGCTAATTCTTGTAGTTGTAGTAGAGATAGAATCTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAACAATGCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACCGTCATGAGCCATTGTGCCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGAGTGAGCATGTATTACTTCTATACTCAGAGGAAAAAATAACGGTAGATATATCAATTCATCTCTCTTTTCCCCTAAAAGATAAATAAGAGCTGGGCGTGGTGCCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACAAGATCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAGATACAAAAAATTAGCCAGGCATGCTGGCATGCACCTGTAATCCCAGCTATTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCTCTCCAGCCTGGGCAACAGGGCGACTCTGTCTTAAAAAAAAAAAAGATAAATAAGAAAAGCTTTGCAAAGGCCTTGCATGAGCAGGGCCTTTCACAATGGTCCTATGAGGTGTGGATATCGTGTTCACAGTGGTCCCACGAGGTGTGGGTATCGTGTTCACAGTGGTCCCACGAGGTGTGTCTATTGTGTTCACAGTGGTCCTACGAGGTGTGGGTATCGTGTTCACAATGGTCCTATGAGGTGTGGATATTCTTTTCCCCTTAGTTTTACAGATGAGGAACCTCAAAAGCTCCAGAGCGTTTGGCCCCAGGGGCAGGGCTGGCATGCAGGCCTCACTTCTGAGGTCCTTCCCGATCCTACAGCCGCCTCCCTTAGGTAGCAGATCAGCTAAGCAGATTCTCCGGGCTGCCCTGGACACAGTTGTCAGAACTCTGTAGCCTTCTTGTCTTGCTTTTCTCCACATCTCCTAGGAAGCCTGTTTCTTTTACTTGTAGGGGTTGGAACTAGTGTTCTACTGTCTAAGCGGGGTGTCTTTACAGGTCTGAAAAAGATTTTGGAAGTGGGGGGCTCTCTACAGGACCCTCCTGGGGAGCTCGCAGTGACCGCAAACAGCCGCATGAGCGCCTCTATTCTCCTCAGCAAGCTCTTTGATGACCTCAAGTGTGATGCGGAGAGGGAGAATTTCCACAGACTTTGTGAAAACTACATCAAGTAAGGAAGTCTGTTTCACCTCCCGTTGCCAGGGATTCTAGCGAAAAAGTTCTGACTCCTTGAGGAGGGGCAGAAATGAAAGGTTTCCAGCAGAAACAGTAATCTTGGGGAGGACTAGTTGGAGGCTGAACAAAGGGAAAGTGGCCCCAAGGCCCACTTCCTGCTCCAAAGTGGCCTCCGCAGGGAGGTTCTTTCTCAAGTCAATGTTCCAATAATGCAACAAACGCCATCAAGCACGTACTGGGTTTACCAAACACTTCCTACGCTTCTGTTCCCACACAGATGAAACATGACAGTCCTTTTTTTTTTTTTCTTGAGACAGAGTTTCACTCTTGTTGCTCAGGCTGGAGTGCAATGGCATGATCTCAGGTCACCACAACCTTCGCCTCTAGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATCACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTATGATCTTGGCTCATTGCAACCTCCACCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATAATAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACACCTGAGGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGGACCGCGTCCAGGCGACAGTCCTTGTTCTTAAAGGAGATTATAGGCCAGGTGTGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGTGGAGGCAGGTGGGTGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTTGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAATTAAAGGAGCTTACAGCTGTTGGGGAGAAAACTGATGATAAATTATGAAATAAGCCGAATCATTTCAGAGCTTAAGTCCAGGAAGGGACATCACTGGTGGTATGGGAGTAACCTGTATTAGATACTATGTCAGGGAAGGCTTGAGTGAAAGTCGATAAAGAAAATCAGCCATTATTGTCCAGGTGGAAACGTCCTAGTCCTCCCATTGGCAGCTTTCCTGCTGTTTCTGCCCAAGTAGTGCAGGTGCCTGGCCAGTGGAGGGGAAGGGAGGGAAGAAGAGTCCCTTTATGTTGGCCTTGGTGTGACGGCTGTCACCCTGTGCCCCTCAGGAGCTGGTTTGAGGGCCAAGGGCTGGCCGGGAAGCTACGGGCCATCCAGACGGTGTCCTGCCTCCTGCAGGGCCCATGTGACGCTGGCAACCGGGCCTTGGAGCTGAGCGGTGTCATGGAGAGTGTGATTGCTCTGTGTGCCTCTGAGCAGGAGGAGGAGCAGCTGGTGGCCGTGGAGGCTCTGATCCATGCAGCCGGCAAGGCTAAGCGGGCCTCATTCATCACTGCCAATGGTGTCTCGCTGCTGAAGGACCTATATAAGTGCAGCGAGAAGGACAGCATCCGCATCCGGGCGCTAGTGGTGAGACGGTGGGCCTGGGGTGGGT 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GAGAAGTTGAAGGGTCAAACTGGGCTGGGCTGCTGTGGAGCCCACTGATGTCTTCTTGTTGTTGCCAGATCCTGCCCGGGAGCTGAAGGTCCTCATCAGTAACCTCTTAGATCTGCTGACAGAGGTGGGGGTCTCTGGCCAAGGCCGAGACAATGCCCTGACCCTCCTGATTAAAGCGGTGCCCCGGAAGTCTCTCAAGGACCCCAACAACAGCCTCACCCTCTGGGTCATCGACCAAGGTAGGTGATATAGTTCACAAAAACTTGCTTCAGCAGCTGAAGTTTGTTTATTCTTAGGAGTAATAAGAAAAGTTGTGAGTGGGGCCAGGCATGGTGGATGACACACTTTGAGAGGCAGGGGGTCACTTGAAGCCGGGAGTTTGAGATCAGCCTGGGCAACATAGCGAGACCCTGTCTCTATGAAAAATTAAAAAAAATTAGCTGGGCATGGTGGTGTGCATCGGCAGTCCTAGCTACTCCAGAGGCTGAGGTGGGAGAATTACTTAACCCTGGGAAGTCAAGTCTTCAGTGAGCTGTGATTGTACCACTGCACTACAGACTGGGCAACAGAGGGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGTTGTGATTATCTCCAGCCACGTGTCTGCACTGAAGTGCGTCCTGTGGCCCAGGAGGATGCTGGAGCTGAGAAGATCTTCCAGAGCAATGGGATTCAGCTCTTACAACACCTTCTAGACACAAGAGCTACCCTTAGGGGGCTCAAAGTTAGACTCTTCTATCATATGCGTGTGCACATACATGCACATTGAGCGGGCCTGCAAGCAGGTTAGCAGAGAGGCTGGATTAGCTTTCTGTATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAGCCTCCGTTTCCCGGGTTCAAGCAAATCTCCTGCTTTAGCCTCCCGAGTAGCTGGGATTATAGGCACGCATCAGTATGCCCGGCTAATTCTTGTAGTTGTAGTAGAGATAGAATCTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAACAATGCACCCACCTTGGTCTCCCAAAGTGTTGGGATTACCGTCATGAGCCATTGTGCCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGAGTGAGCATGTATTACTTCTATACTCAGAGGAAAAAATAACGGTAGATATATCAATTCATCTCTCTTTTCCCCTAAAAGATAAATAAGAGCTGGGCGTGGTGCCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACAAGATCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAGATACAAAAAATTAGCCAGGCATGCTGGCATGCACCTGTAATCCCAGCTATTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCTCTCCAGCCTGGGCAACAGGGCGACTCTGTCTTAAAAAAAAAAAAGATAAATAAGAAAAGCTTTGCAAAGGCCTTGCATGAGCAGGGCCTTTCACAATGGTCCTATGAGGTGTGGATATCGTGTTCACAGTGGTCCCACGAGGTGTGGGTATCGTGTTCACAGTGGTCCCACGAGGTGTGTCTATTGTGTTCACAGTGGTCCTACGAGGTGTGGGTATCGTGTTCACAATGGTCCTATGAGGTGTGGATATTCTTTTCCCCTTAGTTTTACAGATGAGGAACCTCAAAAGCTCCAGAGCGTTTGGCCCCAGGGGCAGGGCTGGCATGCAGGCCTCACTTCTGAGGTCCTTCCCGATCCTACAGCCGCCTCCCTTAGGTAGCAGATCAGCTAAGCAGATTCTCCGGGCTGCCCTGGACACAGTTGTCAGAACTCTGTAGCCTTCTTGTCTTGCTTTTCTCCACATCTCCTAGGAAGCCTGTTTCTTTTACTTGTAGGGGTTGGAACTAGTGTTCTACTGTCTAAGCGGGGTGTCTTTACAGTTCTGAAAAAGATTTTGGAAGTGGGGGGCTCTCTACAGGACCCTCCTGGGGAGCTCGCAGTGACCGCAAACAGCCGCATGAGCGCCTCTATTCTCCTCAGCAAGCTCTTTGATGACCTCAAGTGTGATGCGGAGAGGGAGAATTTCCACAGACTTTGTGAAAACTACATCAAGTAAGGAAGTCTGTTTCACCTCCCGTTGCCAGGGATTCTAGCGAAAAAGTTCTGACTCCTTGAGGAGGGGCAGAAATGAAAGGTTTCCAGCAGAAACAGTAATCTTGGGGAGGACTAGTTGGAGGCTGAACAAAGGGAAAGTGGCCCCAAGGCCCACTTCCTGCTCCAAAGTGGCCTCCGCAGGGAGGTTCTTTCTCAAGTCAATGTTCCAATAATGCAACAAACGCCATCAAGCACGTACTGGGTTTACCAAACACTTCCTACGCTTCTGTTCCCACACAGATGAAACATGACAGTCCTTTTTTTTTTTTTCTTGAGACAGAGTTTCACTCTTGTTGCTCAGGCTGGAGTGCAATGGCATGATCTCAGGTCACCACAACCTTCGCCTCTAGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATCACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTATGATCTTGGCTCATTGCAACCTCCACCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATAATAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACACCTGAGGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGGACCGCGTCCAGGCGACAGTCCTTGTTCTTAAAGGAGATTATAGGCCAGGTGTGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGTGGAGGCAGGTGGGTGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTTGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAATTAAAGGAGCTTACAGCTGTTGGGGAGAAAACTGATGATAAATTATGAAATAAGCCGAATCATTTCAGAGCTTAAGTCCAGGAAGGGACATCACTGGTGGTATGGGAGTAACCTGTATTAGATACTATGTCAGGGAAGGCTTGAGTGAAAGTCGATAAAGAAAATCAGCCATTATTGTCCAGGTGGAAACGTCCTAGTCCTCCCATTGGCAGCTTTCCTGCTGTTTCTGCCCAAGTAGTGCAGGTGCCTGGCCAGTGGAGGGGAAGGGAGGGAAGAAGAGTCCCTTTATGTTGGCCTTGGTGTGACGGCTGTCACCCTGTGCCCCTCAGGAGCTGGTTTGAGGGCCAAGGGCTGGCCGGGAAGCTACGGGCCATCCAGACGGTGTCCTGCCTCCTGCAGGGCCCATGTGACGCTGGCAACCGGGCCTTGGAGCTGAGCGGTGTCATGGAGAGTGTGATTGCTCTGTGTGCCTCTGAGCAGGAGGAGGAGCAGCTGGTGGCCGTGGAGGCTCTGATCCATGCAGCCGGCAAGGCTAAGCGGGCCTCATTCATCACTGCCAATGGTGTCTCGCTGCTGAAGGACCTATATAAGTGCAGCGAGAAGGACAGCATCCGCATCCGGGCGCTAGTGGTGAGACGGTGGGCCTGGGGTGGGT 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Task1_train_21917 | A genetic alteration is present in RCCD1-AS1, UNC45A, RCCD1-AS1, UNC45A (RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A| RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteootohepatoenteric syndrome | CTGGCAATTTGGGAGGATGAGGCAGGAGGATCACTGGAGCCCAGAAGTTCAGGCCAGCCTGAGCAGTGTAGCAATACCTCGTCCCTATTTAAAAAAGAAATTAAAGAGAATATCAGGAAGAATAGCTAATGCATGCTGGGCTTAATACCTGGGTGATGGGATGATCTGTGCGGTAAACCACAACGGCACATGGTTACCTGTGTAACAAACCTGCACGTCCTGCACATGTACCCCTGAACTTAACAGTTGGAAAAAAAATTTGCAAGGTGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGGGGGGTCAAGGCTACAGCAGTGAGCTGTGATCATGCCACTTTACTCCAGCCTAGGTGACAGAGTGAGATCCTGCCTCAAAAAAACACAGAAACAAAAACCCTCAAATGTTAGGTGTTAGCCTCACCATCACGACCACCCTGGTCTTCTACATCCTAATTTTGAGCATTTCCCACAATCCTATGCTATTTCCTAGGCCTGGTTAGAAGGCTAAGAAGCACTGTAGTTCATACCTGGTGCAAGAGGGTCCTTGGACATTGCCAAGGGAAATCCTCAGCCCAGGACTTGATTGCATGAGGGTGTGGGTGCAGGGGTGGAGCAGATGTAGAAACTCTGATGATGCTGCCGGTGTTAGTCTGTTCTTGCATTGCTGTAAAGGAATACCTGAGACTGGGTAATTTATAAAGAAAAGAGATTTAATTGCTTCCTGGCTCTACAGGCTGTGTAAGCATGGCATTGGCATTTGCTCAGCTTCTGGGGAGGCCTCAGAGAGCTTTTACTCATAGTAGAAGGCAAAGCAGGAGCAGGCACATCACATGGTGAAAGTAGGAGCAAGAGACAGTCGGGGGAGGTGCCACACACTTTTTTTTTTTTTGAAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAATCGCTTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGCGCGCACCAGCATACCCAGCTAATTTTTTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTCATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCGTGAGCCTCCACGCCCGGCCGAGATGCCACGCACTTTTAAATAACCAGATCTCACGAGAACTTACTATCACGAGGATAGCACCAAGCCATGAGGGACCCATCCCATGACCCAGTCACCTCCCACCAGGCCCTACCTCCAACATTGGGGATTATAGTTCAACATGAGGGTTAGAAGGGAAAACATCCAAACCGTATCCCTGCTGCTTCCTCCTGTGGCCCTGCAGGCAGAAGATCCTGAAGGAGAAGGCTGTGCCCATGATAGAAGGCTACATGTTTGAGGAGCATGAGATGATCCGCCGGGCAGCCACGGAGTGCATGTGTAACTTGGCCATGAGCAAGGAGGTGAGGGTTGGTCTGGGTGCTCATGACAGGCGGGGATGCAGAGGTACCTGTGCCCTGGCTGGGCTTTACACCCAACTGACTTGGTCCACTCCTCACATCTGGCCACAGGTGCAGGACCTCTTCGAAGCCCAGGGCAATGACCGACTGAAGCTGCTGGTGCTGTACAGTGGAGAGGATGATGAGCTGCTACAGCGGGCAGCTGCCGGGGGCTTGGCCATGCTTACCTCCATGCGGCCCACGCTCTGCAGCCGCATTCCCCAAGTGGTCAGTGCCTCTTCTCAGTGGGGGAGGAGGGACGGACCAGGAACTCCCAGCAGCAGCTGAAGGGGGCAGTCCTAGGGTGTGTGGGTGTGTCCCTTGCCAAGGTTGAGCCTGTTGCCCAGGGGTCATATCTACCCTGTTTTTCTCACAGACCACACACTGGCTGGAGATCCTGCAGGCCCTGCTTCTGAGCTCCAACCAGGAGCTGCAGCACCGGGGTGCTGTGGTGGTGCTGAACATGGTGGAGGCCTCGAGGGAGATTGCCAGCACCCTGATGGAGAGTGAGATGATGGAGATCTTGTCAGTGCTAGCTAAGGGTGACCACAGCCCTGTCACAAGGGCTGCTGCAGCCTGCCTGGACAAAGCAGTGGAATATGGGCTTATCCAACCCAACCAAGATGGAGAGTGAGGGGGTTGTCCCTGGGCCCAAGGCTCATGCACACGCTACCTATTGTGGCACGGAGAGTAAGGACGGAAGCAGCTTTGGCTGGTGGTGGCTGGCATGCCCAATACTCTTGCCCATCCTCGCTTGCTGCCCTAGGATGTCCTCTGTTCTGAGTCAGCGGCCACGTTCAGTCACACAGCCCTGCTTGGCCAGCACTGCCTGCAGCCTCACTCAGAGGGGCCCTTTTTCTGTACTACTGTAGTCAGCTGGGAATGGGGAAGGTGCATCCCAACACAGCCTGTGGATCCTGGGGCATCTGGAAGGGCGCACACATCAGCAGCCTCACCAGCTGTGAGCCTGCTATCAGGCCTGCCCCTCCAATAAAAGTGTGTAGAACTCCACTGTGTGCCCTGTCCTTGGGCAGGGAGGGCTGCTGTGAGTGGGAGTCTCTGAGTGGGTGAGTGTGGGTGAGTATGGGTGTGAGCTGGGCGTGGGTGAGTGTGCAACGGAGCTTCACAGTGGCAGACCCACCTCCATGGAAGGAATCCAATGGATTCCCCAACCAGGGCCCACTGAGTTGCTTCTTAATCCTACTGGAGGGACAAAGGGTAAGCCTAGGAAGCTAATCAATAAGAAACTCACCAGGTGCGGTGCCTCAAGCTTGTAATCCCAGCGCTTTGGGAGGCTGAGGCAGGTGGATCACTTGAAGTCAGGGGTTCGAGACCAGCCTGGGCAACAAGCAAAACTCTTTCTCTATAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCAGAGTGTGGCGGCATGCACCTGTAATCCCAGCTACTCGGTAGGCGAAGGTTGCAGTGAGCCCAGAGCGCAGCCTCCCAAAGTGTCGCCTGGGCGACACAGCGAGACCCTATCTCAAAAAATATTAAACTATCCCAAGAAATAAGTCGTTTAGGGTAGAGACTCCCATATGCTGGGCCTTCAGTACGTTTGTCTTTATATTGGGAGTCCTCTGTGGCCTCCGCTGAGGGCGCTGGGGCGGGGGTTGGGGTTGGTGGCCAGCTGAGCCTGGTTGAAGGGCGGCTTGGGCCCCGCCCACCACCCCAGCACGTTCGAGGAGGGCTAAGCCCAGCGTGAGGCTCGTTGGCTCGACAGAGGCACGTGACGGGTCCTGAGCCAATCCGTGGAAGGTAAAAGCTGCTTCCTGTTGGGGCATGAGTCCGGCGCGTGTCGGGTTTTGAGCTGCCGCGGTCCCGGGACTGAGGTGGGTGGCGGGGTCCGCCCGTCTTGGGCGTCACTCCTCGCCAAACCTTTAGCTCAAGTCTTAATGAATGTCCTCTCTGTGGTTCTAATCCGAGCTCCAGCCCCACGGGTTCCTGCAGGGGCGGGACCACCTGGCCCAACCTCTGCCTTGGTCCAACGCCCCCGGTTTCCTCCAGGGCCTTGGTCCAACGCCCCTCGGAGGTTTCAGCCCATTTCACAGACCGGGCCGCAGGGCCCCGGCGTAGGCCTCGGGACCGGAGAGGCCCTCAAGGGGAGTTGAACAGGGCTGCGGCCGCCGCGCCCCGGGCGGCGACGTCACCGCCCTTGCTGGTGATTGGCCGCCTCGCGCCGCGCGCCCTTCAAACCTTTTCTCCCCGTGGCTGTCGGCGCCCGCTGGGCGGGAGGCCTTTCCGGAGGCGGCCGCTCTGCGCCTCGGCGTTTCCTCCAAGGCTGCCCACCAGAAGGACCTGCCCGAGAGGGTAGAGGGCATAGGGTCAAGATCAAGGTCAGAGGCCCCCTTGGGTTGGGAGAGGACACGGAAGGGGTTAGGAGCCCAGGAACTGGGGTCTCAGGAGAGACCCAGGATCTGACTTAAGAGGCCTGAAAATGCCCATGCAATTCTGCTTCAGCCCGGGTGCAGCGGCTCACGCCTGTAATCC 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CTGGCAATTTGGGAGGATGAGGCAGGAGGATCACTGGAGCCCAGAAGTTCAGGCCAGCCTGAGCAGTGTAGCAATACCTCGTCCCTATTTAAAAAAGAAATTAAAGAGAATATCAGGAAGAATAGCTAATGCATGCTGGGCTTAATACCTGGGTGATGGGATGATCTGTGCGGTAAACCACAACGGCACATGGTTACCTGTGTAACAAACCTGCACGTCCTGCACATGTACCCCTGAACTTAACAGTTGGAAAAAAAATTTGCAAGGTGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGGGGGGTCAAGGCTACAGCAGTGAGCTGTGATCATGCCACTTTACTCCAGCCTAGGTGACAGAGTGAGATCCTGCCTCAAAAAAACACAGAAACAAAAACCCTCAAATGTTAGGTGTTAGCCTCACCATCACGACCACCCTGGTCTTCTACATCCTAATTTTGAGCATTTCCCACAATCCTATGCTATTTCCTAGGCCTGGTTAGAAGGCTAAGAAGCACTGTAGTTCATACCTGGTGCAAGAGGGTCCTTGGACATTGCCAAGGGAAATCCTCAGCCCAGGACTTGATTGCATGAGGGTGTGGGTGCAGGGGTGGAGCAGATGTAGAAACTCTGATGATGCTGCCGGTGTTAGTCTGTTCTTGCATTGCTGTAAAGGAATACCTGAGACTGGGTAATTTATAAAGAAAAGAGATTTAATTGCTTCCTGGCTCTACAGGCTGTGTAAGCATGGCATTGGCATTTGCTCAGCTTCTGGGGAGGCCTCAGAGAGCTTTTACTCATAGTAGAAGGCAAAGCAGGAGCAGGCACATCACATGGTGAAAGTAGGAGCAAGAGACAGTCGGGGGAGGTGCCACACACTTTTTTTTTTTTTGAAATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAATCGCTTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGCGCGCACCAGCATACCCAGCTAATTTTTTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTCATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCGTGAGCCTCCACGCCCGGCCGAGATGCCACGCACTTTTAAATAACCAGATCTCACGAGAACTTACTATCACGAGGATAGCACCAAGCCATGAGGGACCCATCCCATGACCCAGTCACCTCCCACCAGGCCCTACCTCCAACATTGGGGATTATAGTTCAACATGAGGGTTAGAAGGGAAAACATCCAAACCGTATCCCTGCTGCTTCCTCCTGTGGCCCTGCAGGCAGAAGATCCTGAAGGAGAAGGCTGTGCCCATGATAGAAGGCTACATGTTTGAGGAGCATGAGATGATCCGCCGGGCAGCCACGGAGTGCATGTGTAACTTGGCCATGAGCAAGGAGGTGAGGGTTGGTCTGGGTGCTCATGACAGGCGGGGATGCAGAGGTACCTGTGCCCTGGCTGGGCTTTACACCCAACTGACTTGGTCCACTCCTCACATCTGGCCACAGGTGCAGGACCTCTTCGAAGCCCAGGGCAATGACCGACTGAAGCTGCTGGTGCTGTACAGTGGAGAGGATGATGAGCTGCTACAGCGGGCAGCTGCCGGGGGCTTGGCCATGCTTACCTCCATGCGGCCCACGCTCTGCAGCCGCATTCCCCAAGTGGTCAGTGCCTCTTCTCAGTGGGGGAGGAGGGACGGACCAGGAACTCCCAGCAGCAGCTGAAGGGGGCAGTCCTAGGGTGTGTGGGTGTGTCCCTTGCCAAGGTTGAGCCTGTTGCCCAGGGGTCATATCTACCCTGTTTTTCTCACAGACCACACACTGGCTGGAGATCCTGCAGGCCCTGCTTCTGAGCTCCAACCAGGAGCTGCAGCACCGGGGTGCTGTGGTGGTGCTGAACATGGTGGAGGCCTTGAGGGAGATTGCCAGCACCCTGATGGAGAGTGAGATGATGGAGATCTTGTCAGTGCTAGCTAAGGGTGACCACAGCCCTGTCACAAGGGCTGCTGCAGCCTGCCTGGACAAAGCAGTGGAATATGGGCTTATCCAACCCAACCAAGATGGAGAGTGAGGGGGTTGTCCCTGGGCCCAAGGCTCATGCACACGCTACCTATTGTGGCACGGAGAGTAAGGACGGAAGCAGCTTTGGCTGGTGGTGGCTGGCATGCCCAATACTCTTGCCCATCCTCGCTTGCTGCCCTAGGATGTCCTCTGTTCTGAGTCAGCGGCCACGTTCAGTCACACAGCCCTGCTTGGCCAGCACTGCCTGCAGCCTCACTCAGAGGGGCCCTTTTTCTGTACTACTGTAGTCAGCTGGGAATGGGGAAGGTGCATCCCAACACAGCCTGTGGATCCTGGGGCATCTGGAAGGGCGCACACATCAGCAGCCTCACCAGCTGTGAGCCTGCTATCAGGCCTGCCCCTCCAATAAAAGTGTGTAGAACTCCACTGTGTGCCCTGTCCTTGGGCAGGGAGGGCTGCTGTGAGTGGGAGTCTCTGAGTGGGTGAGTGTGGGTGAGTATGGGTGTGAGCTGGGCGTGGGTGAGTGTGCAACGGAGCTTCACAGTGGCAGACCCACCTCCATGGAAGGAATCCAATGGATTCCCCAACCAGGGCCCACTGAGTTGCTTCTTAATCCTACTGGAGGGACAAAGGGTAAGCCTAGGAAGCTAATCAATAAGAAACTCACCAGGTGCGGTGCCTCAAGCTTGTAATCCCAGCGCTTTGGGAGGCTGAGGCAGGTGGATCACTTGAAGTCAGGGGTTCGAGACCAGCCTGGGCAACAAGCAAAACTCTTTCTCTATAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCAGAGTGTGGCGGCATGCACCTGTAATCCCAGCTACTCGGTAGGCGAAGGTTGCAGTGAGCCCAGAGCGCAGCCTCCCAAAGTGTCGCCTGGGCGACACAGCGAGACCCTATCTCAAAAAATATTAAACTATCCCAAGAAATAAGTCGTTTAGGGTAGAGACTCCCATATGCTGGGCCTTCAGTACGTTTGTCTTTATATTGGGAGTCCTCTGTGGCCTCCGCTGAGGGCGCTGGGGCGGGGGTTGGGGTTGGTGGCCAGCTGAGCCTGGTTGAAGGGCGGCTTGGGCCCCGCCCACCACCCCAGCACGTTCGAGGAGGGCTAAGCCCAGCGTGAGGCTCGTTGGCTCGACAGAGGCACGTGACGGGTCCTGAGCCAATCCGTGGAAGGTAAAAGCTGCTTCCTGTTGGGGCATGAGTCCGGCGCGTGTCGGGTTTTGAGCTGCCGCGGTCCCGGGACTGAGGTGGGTGGCGGGGTCCGCCCGTCTTGGGCGTCACTCCTCGCCAAACCTTTAGCTCAAGTCTTAATGAATGTCCTCTCTGTGGTTCTAATCCGAGCTCCAGCCCCACGGGTTCCTGCAGGGGCGGGACCACCTGGCCCAACCTCTGCCTTGGTCCAACGCCCCCGGTTTCCTCCAGGGCCTTGGTCCAACGCCCCTCGGAGGTTTCAGCCCATTTCACAGACCGGGCCGCAGGGCCCCGGCGTAGGCCTCGGGACCGGAGAGGCCCTCAAGGGGAGTTGAACAGGGCTGCGGCCGCCGCGCCCCGGGCGGCGACGTCACCGCCCTTGCTGGTGATTGGCCGCCTCGCGCCGCGCGCCCTTCAAACCTTTTCTCCCCGTGGCTGTCGGCGCCCGCTGGGCGGGAGGCCTTTCCGGAGGCGGCCGCTCTGCGCCTCGGCGTTTCCTCCAAGGCTGCCCACCAGAAGGACCTGCCCGAGAGGGTAGAGGGCATAGGGTCAAGATCAAGGTCAGAGGCCCCCTTGGGTTGGGAGAGGACACGGAAGGGGTTAGGAGCCCAGGAACTGGGGTCTCAGGAGAGACCCAGGATCTGACTTAAGAGGCCTGAAAATGCCCATGCAATTCTGCTTCAGCCCGGGTGCAGCGGCTCACGCCTGTAATCC 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Task1_train_21918 | A change on Chromosome 15 affects gene VPS33B (VPS33B late endosome and lysosome associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Arthrogryposis, renal dysfunction, and cholestasis 1 | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTACTGCAGCCTCGACCTCCTGGGCTCAAAGGATCCTCCCACCTCAGCCTCCCCAGTAGCTAGGAATACAGGTGTGTGCCACCACCCTCGGCTAATTTTTTTATTTTTTGTAGAGACGGGGTCTTCCCATGTTATCCAGGCTGGTCTCAAACTCCGGGGTTCAAGCGTTCCTCTTGCCTCGGCCTCCAAAAGTGCAGTGATTACAGGCATGAGCCACAGCACCTGGCCTATATTTCATCATTTTTAAAAGGTAAAGAGAGAGAGAAAGGCTACTAGCATCAGTAATGAGGAGGGTGCTGGCACATTTATAGGAGCACTGTTTGCTGATGCCTGAAATGGCTCTAATGGCACACAATCTTTCATTCTGCAATAAGAAACAAACGCTTAAAATTGAAGTGCCTCCTTAAATTAAAACAACAAAGTCATTTTCTCAAAAATGTAATGAATCACAACATTTTAGAACTGGAAACGTGCTTGCTGGTCACCTCAGCCATCTCCCTCATTTTATGGTAGAGGAAACTCAGGTACAGAGTGGTAGAGTGATTTTTACAGGGAAGAACCAGACCAGGCCTGGAGCCACTACAAAGTCCAGGCCAAGAAGCACAGGAAGCCCCTGTAGCAAGCTCCAATGGGCTTTCACTAATAAAGATGGAAGTGCGTGTCCAGAACGACCAACGTATTACATCTGAGAGCAGAGGCTTTATTTACAATGACATTCAAACAGGATTTAGCAAAGGATGCCTCTTCCTGCTCGCATCTTAGCAGCATGGGTTGTACTTCATAAACAGAAAAGAGAAATATCCTGGGAGCAGGAAGTGAACTCTTTTCTCAGATAATGTTCTCTAAATCCCAACACGTTCCATGCTCCCGGCTCTTAGCAGGTAGTTGGTGGACACTTGGTTATAGCAGCTGGGTGCCAGATGCCTGCATCTCACTGAGGAATGTGTTCAGGGAAGATGTCAACACTGGCCGGGAAAAACATCAGGCTTTCACCTCACTCATGGCCTCCATAAGGCGAGCGCTGTTTGTGACTGCTGTCGTCAGGAAAATGAACCTGTAGCCTAAGGAGTCAAATGCAGCAGCAGAAGAGACAGCACAGATCTTAGGCCCCAACGGCAACCCATAGAGCCTCTCCAGTTCCACAGTCCCCACGGGATCACAGCACCAGTTTATAGACAGAGACGTGAGTGCCATGCTCTTGGGCACCACTGCTTTCTATGACTGGTATAACTGGGCTCCCTGCTGTGGCAGCCCAGAGTTAAGGCTATGGCAAGTTGTATTCTGAGGCCAGGAGAAAAATATTCCTGTGCAGGACACTTTGCGTGTTTTTTTTTTTTCTCTTGAGATGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTAGCATTACAGGCACCGGCCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGGCTCTAACTCCTGACCTCAGGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGAGATTACAGGTATGAACCACCGTGCCCAGCTGACACTTTGTTACCCAGATACAATGCAGGCCAATTCTCACCTTTCTGCTCTCTCTTACCTTTCTCTCTGCCCAGGAACCGGAGGGCTGAGATCTCAGAGAATGTACAACCACCCAAGAACACCACCAAGATGAGGCGCAGGGACTCACTGGAAGCCTTGTCTTCCTTAGTCATATCTGTGAGGATCAGACCAGATTCAGCCCTTCCCTGACATGCTAGTCCTGAGTGGTGCATCCAGCCCACCTCTCACTGCCAGCCTACCCCACTGTTAATGCCACATACCTGTGAATGCAAAGTCACTGCAGTTGAGCAGCCGTACCACCTCATCAAGGCCCTGCCAGCTTCGCCGCTCTAGCACCTGGGAAGGTGTAAGCACTGTTTTTAAGGCTACAGACAGTATCAGGCTTAGGAAAGGAAGGGCACAGCAGCCAGACTGTCACATTTCTTGCTCATTACTCAAGTAGCAAAAAGTTGAGACAGGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAACACTTTAGGAGTTTGAGGCGGGGGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATATAGTTGGCCCTGTCTATATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACATGCCTGTAGTCCCAGCTACTTCGGAAGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAATAAAAAAAAAAAAACATTGAGACACGCCAGGGACCAAGAGAAAGCAGAGAGAATGAAATATGAATGGGAGCAAGAATTACATGCTCTCACCTGCTCAATGATTCGGCAGCTCAGGGGCACATAAGCACCACCGAAGACGTAAGCCATGTCTCGGGGCACTTTCAGATCATACTCGCCGTCCACACGTGGGATCTGTAAGACAAAGGGACTTCATTAGGCAAGTGACAGCTCAGCTCCCTAACCCTTTAAAGGGTCAGATAAAGTGGCATGGCCCAAGGAACAATTCTTATTTCAACTAAAGGGAGAACCAGCAATAGCCCTGAAAAGAGAATCCATAACGGAAGATGGCAGTTTTTGTTCAGTAACTGCCAGTTCTCTGGAATGAGTTCCCATGCGCCATTATTGAATAATGTAAAGGGGCTGGAGGGATGGCTTCTCCTTTCCCTACCCTTAAGTGACACAGGATATGGTTGTCACTGAAGCAGCACTTAGAATATTCTCTGGCATTGGCAGGTGCTTGTTACATGTTGATTAAATGAATGAATCTACCATGCTATAAGACTACCAAACAAAAGAATCTTTATACACATGAAATGACAAAAAGGTTTTTGTGGATTCAAAGTACTCCACAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAATTCAGCTTTTTGCTGATGGCACGAAAATTGCTCCTCTTGGCCAGAGAACTGAAGGCATCAGTAATCTTTCCTGGGGAAGAAATCTGTGTCAGGTTTCACCTAAGGTCTATGGATTCATGACACTGCCACAGATAACACCATTCAGGACACGACAGCACCAATCACATCCAAAAACTCTCGGAAGCTGTTCAACTATAATTCCCTGGAACTAATCAAGATATACTCCCCACCCTTCTCCCCACCCACAGTCTTCCCCCTCCTACGGGGTACCAGCTCTCTACTAAATGCAATCCACAGGGTAACCCGAGTTTATTGGTATGTGCTTTGGGAGTTAAACCGACCTAACTTACTAACTAAGGGACCTTGGACAAATCACTTAA 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TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTACTGCAGCCTCGACCTCCTGGGCTCAAAGGATCCTCCCACCTCAGCCTCCCCAGTAGCTAGGAATACAGGTGTGTGCCACCACCCTCGGCTAATTTTTTTATTTTTTGTAGAGACGGGGTCTTCCCATGTTATCCAGGCTGGTCTCAAACTCCGGGGTTCAAGCGTTCCTCTTGCCTCGGCCTCCAAAAGTGCAGTGATTACAGGCATGAGCCACAGCACCTGGCCTATATTTCATCATTTTTAAAAGGTAAAGAGAGAGAGAAAGGCTACTAGCATCAGTAATGAGGAGGGTGCTGGCACATTTATAGGAGCACTGTTTGCTGATGCCTGAAATGGCTCTAATGGCACACAATCTTTCATTCTGCAATAAGAAACAAACGCTTAAAATTGAAGTGCCTCCTTAAATTAAAACAACAAAGTCATTTTCTCAAAAATGTAATGAATCACAACATTTTAGAACTGGAAACGTGCTTGCTGGTCACCTCAGCCATCTCCCTCATTTTATGGTAGAGGAAACTCAGGTACAGAGTGGTAGAGTGATTTTTACAGGGAAGAACCAGACCAGGCCTGGAGCCACTACAAAGTCCAGGCCAAGAAGCACAGGAAGCCCCTGTAGCAAGCTCCAATGGGCTTTCACTAATAAAGATGGAAGTGCGTGTCCAGAACGACCAACGTATTACATCTGAGAGCAGAGGCTTTATTTACAATGACATTCAAACAGGATTTAGCAAAGGATGCCTCTTCCTGCTCGCATCTTAGCAGCATGGGTTGTACTTCATAAACAGAAAAGAGAAATATCCTGGGAGCAGGAAGTGAACTCTTTTCTCAGATAATGTTCTCTAAATCCCAACACGTTCCATGCTCCCGGCTCTTAGCAGGTAGTTGGTGGACACTTGGTTATAGCAGCTGGGTGCCAGATGCCTGCATCTCACTGAGGAATGTGTTCAGGGAAGATGTCAACACTGGCCGGGAAAAACATCAGGCTTTCACCTCACTCATGGCCTCCATAAGGCGAGCGCTGTTTGTGACTGCTGTCGTCAGGAAAATGAACCTGTAGCCTAAGGAGTCAAATGCAGCAGCAGAAGAGACAGCACAGATCTTAGGCCCCAACGGCAACCCATAGAGCCTCTCCAGTTCCACAGTCCCCACGGGATCACAGCACCAGTTTATAGACAGAGACGTGAGTGCCATGCTCTTGGGCACCACTGCTTTCTATGACTGGTATAACTGGGCTCCCTGCTGTGGCAGCCCAGAGTTAAGGCTATGGCAAGTTGTATTCTGAGGCCAGGAGAAAAATATTCCTGTGCAGGACACTTTGCGTGTTTTTTTTTTTTCTCTTGAGATGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTAGCATTACAGGCACCGGCCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGGCTCTAACTCCTGACCTCAGGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGAGATTACAGGTATGAACCACCGTGCCCAGCTGACACTTTGTTACCCAGATACAATGCAGGCCAATTCTCACCTTTCTGCTCTCTCTTACCTTTCTCTCTGCCCAGGAACCGGAGGGCTGAGATCTCAGAGAATGTACGACCACCCAAGAACACCACCAAGATGAGGCGCAGGGACTCACTGGAAGCCTTGTCTTCCTTAGTCATATCTGTGAGGATCAGACCAGATTCAGCCCTTCCCTGACATGCTAGTCCTGAGTGGTGCATCCAGCCCACCTCTCACTGCCAGCCTACCCCACTGTTAATGCCACATACCTGTGAATGCAAAGTCACTGCAGTTGAGCAGCCGTACCACCTCATCAAGGCCCTGCCAGCTTCGCCGCTCTAGCACCTGGGAAGGTGTAAGCACTGTTTTTAAGGCTACAGACAGTATCAGGCTTAGGAAAGGAAGGGCACAGCAGCCAGACTGTCACATTTCTTGCTCATTACTCAAGTAGCAAAAAGTTGAGACAGGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAACACTTTAGGAGTTTGAGGCGGGGGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATATAGTTGGCCCTGTCTATATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACATGCCTGTAGTCCCAGCTACTTCGGAAGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAATAAAAAAAAAAAAACATTGAGACACGCCAGGGACCAAGAGAAAGCAGAGAGAATGAAATATGAATGGGAGCAAGAATTACATGCTCTCACCTGCTCAATGATTCGGCAGCTCAGGGGCACATAAGCACCACCGAAGACGTAAGCCATGTCTCGGGGCACTTTCAGATCATACTCGCCGTCCACACGTGGGATCTGTAAGACAAAGGGACTTCATTAGGCAAGTGACAGCTCAGCTCCCTAACCCTTTAAAGGGTCAGATAAAGTGGCATGGCCCAAGGAACAATTCTTATTTCAACTAAAGGGAGAACCAGCAATAGCCCTGAAAAGAGAATCCATAACGGAAGATGGCAGTTTTTGTTCAGTAACTGCCAGTTCTCTGGAATGAGTTCCCATGCGCCATTATTGAATAATGTAAAGGGGCTGGAGGGATGGCTTCTCCTTTCCCTACCCTTAAGTGACACAGGATATGGTTGTCACTGAAGCAGCACTTAGAATATTCTCTGGCATTGGCAGGTGCTTGTTACATGTTGATTAAATGAATGAATCTACCATGCTATAAGACTACCAAACAAAAGAATCTTTATACACATGAAATGACAAAAAGGTTTTTGTGGATTCAAAGTACTCCACAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAATTCAGCTTTTTGCTGATGGCACGAAAATTGCTCCTCTTGGCCAGAGAACTGAAGGCATCAGTAATCTTTCCTGGGGAAGAAATCTGTGTCAGGTTTCACCTAAGGTCTATGGATTCATGACACTGCCACAGATAACACCATTCAGGACACGACAGCACCAATCACATCCAAAAACTCTCGGAAGCTGTTCAACTATAATTCCCTGGAACTAATCAAGATATACTCCCCACCCTTCTCCCCACCCACAGTCTTCCCCCTCCTACGGGGTACCAGCTCTCTACTAAATGCAATCCACAGGGTAACCCGAGTTTATTGGTATGTGCTTTGGGAGTTAAACCGACCTAACTTACTAACTAAGGGACCTTGGACAAATCACTTAA 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Task1_train_21919 | A genomic change on Chromosome 15 affects VPS33B (VPS33B late endosome and lysosome associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cholestasis, progressive familial intrahepatic, 12 | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTACTGCAGCCTCGACCTCCTGGGCTCAAAGGATCCTCCCACCTCAGCCTCCCCAGTAGCTAGGAATACAGGTGTGTGCCACCACCCTCGGCTAATTTTTTTATTTTTTGTAGAGACGGGGTCTTCCCATGTTATCCAGGCTGGTCTCAAACTCCGGGGTTCAAGCGTTCCTCTTGCCTCGGCCTCCAAAAGTGCAGTGATTACAGGCATGAGCCACAGCACCTGGCCTATATTTCATCATTTTTAAAAGGTAAAGAGAGAGAGAAAGGCTACTAGCATCAGTAATGAGGAGGGTGCTGGCACATTTATAGGAGCACTGTTTGCTGATGCCTGAAATGGCTCTAATGGCACACAATCTTTCATTCTGCAATAAGAAACAAACGCTTAAAATTGAAGTGCCTCCTTAAATTAAAACAACAAAGTCATTTTCTCAAAAATGTAATGAATCACAACATTTTAGAACTGGAAACGTGCTTGCTGGTCACCTCAGCCATCTCCCTCATTTTATGGTAGAGGAAACTCAGGTACAGAGTGGTAGAGTGATTTTTACAGGGAAGAACCAGACCAGGCCTGGAGCCACTACAAAGTCCAGGCCAAGAAGCACAGGAAGCCCCTGTAGCAAGCTCCAATGGGCTTTCACTAATAAAGATGGAAGTGCGTGTCCAGAACGACCAACGTATTACATCTGAGAGCAGAGGCTTTATTTACAATGACATTCAAACAGGATTTAGCAAAGGATGCCTCTTCCTGCTCGCATCTTAGCAGCATGGGTTGTACTTCATAAACAGAAAAGAGAAATATCCTGGGAGCAGGAAGTGAACTCTTTTCTCAGATAATGTTCTCTAAATCCCAACACGTTCCATGCTCCCGGCTCTTAGCAGGTAGTTGGTGGACACTTGGTTATAGCAGCTGGGTGCCAGATGCCTGCATCTCACTGAGGAATGTGTTCAGGGAAGATGTCAACACTGGCCGGGAAAAACATCAGGCTTTCACCTCACTCATGGCCTCCATAAGGCGAGCGCTGTTTGTGACTGCTGTCGTCAGGAAAATGAACCTGTAGCCTAAGGAGTCAAATGCAGCAGCAGAAGAGACAGCACAGATCTTAGGCCCCAACGGCAACCCATAGAGCCTCTCCAGTTCCACAGTCCCCACGGGATCACAGCACCAGTTTATAGACAGAGACGTGAGTGCCATGCTCTTGGGCACCACTGCTTTCTATGACTGGTATAACTGGGCTCCCTGCTGTGGCAGCCCAGAGTTAAGGCTATGGCAAGTTGTATTCTGAGGCCAGGAGAAAAATATTCCTGTGCAGGACACTTTGCGTGTTTTTTTTTTTTCTCTTGAGATGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTAGCATTACAGGCACCGGCCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGGCTCTAACTCCTGACCTCAGGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGAGATTACAGGTATGAACCACCGTGCCCAGCTGACACTTTGTTACCCAGATACAATGCAGGCCAATTCTCACCTTTCTGCTCTCTCTTACCTTTCTCTCTGCCCAGGAACCGGAGGGCTGAGATCTCAGAGAATGTACAACCACCCAAGAACACCACCAAGATGAGGCGCAGGGACTCACTGGAAGCCTTGTCTTCCTTAGTCATATCTGTGAGGATCAGACCAGATTCAGCCCTTCCCTGACATGCTAGTCCTGAGTGGTGCATCCAGCCCACCTCTCACTGCCAGCCTACCCCACTGTTAATGCCACATACCTGTGAATGCAAAGTCACTGCAGTTGAGCAGCCGTACCACCTCATCAAGGCCCTGCCAGCTTCGCCGCTCTAGCACCTGGGAAGGTGTAAGCACTGTTTTTAAGGCTACAGACAGTATCAGGCTTAGGAAAGGAAGGGCACAGCAGCCAGACTGTCACATTTCTTGCTCATTACTCAAGTAGCAAAAAGTTGAGACAGGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAACACTTTAGGAGTTTGAGGCGGGGGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATATAGTTGGCCCTGTCTATATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACATGCCTGTAGTCCCAGCTACTTCGGAAGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAATAAAAAAAAAAAAACATTGAGACACGCCAGGGACCAAGAGAAAGCAGAGAGAATGAAATATGAATGGGAGCAAGAATTACATGCTCTCACCTGCTCAATGATTCGGCAGCTCAGGGGCACATAAGCACCACCGAAGACGTAAGCCATGTCTCGGGGCACTTTCAGATCATACTCGCCGTCCACACGTGGGATCTGTAAGACAAAGGGACTTCATTAGGCAAGTGACAGCTCAGCTCCCTAACCCTTTAAAGGGTCAGATAAAGTGGCATGGCCCAAGGAACAATTCTTATTTCAACTAAAGGGAGAACCAGCAATAGCCCTGAAAAGAGAATCCATAACGGAAGATGGCAGTTTTTGTTCAGTAACTGCCAGTTCTCTGGAATGAGTTCCCATGCGCCATTATTGAATAATGTAAAGGGGCTGGAGGGATGGCTTCTCCTTTCCCTACCCTTAAGTGACACAGGATATGGTTGTCACTGAAGCAGCACTTAGAATATTCTCTGGCATTGGCAGGTGCTTGTTACATGTTGATTAAATGAATGAATCTACCATGCTATAAGACTACCAAACAAAAGAATCTTTATACACATGAAATGACAAAAAGGTTTTTGTGGATTCAAAGTACTCCACAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAATTCAGCTTTTTGCTGATGGCACGAAAATTGCTCCTCTTGGCCAGAGAACTGAAGGCATCAGTAATCTTTCCTGGGGAAGAAATCTGTGTCAGGTTTCACCTAAGGTCTATGGATTCATGACACTGCCACAGATAACACCATTCAGGACACGACAGCACCAATCACATCCAAAAACTCTCGGAAGCTGTTCAACTATAATTCCCTGGAACTAATCAAGATATACTCCCCACCCTTCTCCCCACCCACAGTCTTCCCCCTCCTACGGGGTACCAGCTCTCTACTAAATGCAATCCACAGGGTAACCCGAGTTTATTGGTATGTGCTTTGGGAGTTAAACCGACCTAACTTACTAACTAAGGGACCTTGGACAAATCACTTAA 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TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTACTGCAGCCTCGACCTCCTGGGCTCAAAGGATCCTCCCACCTCAGCCTCCCCAGTAGCTAGGAATACAGGTGTGTGCCACCACCCTCGGCTAATTTTTTTATTTTTTGTAGAGACGGGGTCTTCCCATGTTATCCAGGCTGGTCTCAAACTCCGGGGTTCAAGCGTTCCTCTTGCCTCGGCCTCCAAAAGTGCAGTGATTACAGGCATGAGCCACAGCACCTGGCCTATATTTCATCATTTTTAAAAGGTAAAGAGAGAGAGAAAGGCTACTAGCATCAGTAATGAGGAGGGTGCTGGCACATTTATAGGAGCACTGTTTGCTGATGCCTGAAATGGCTCTAATGGCACACAATCTTTCATTCTGCAATAAGAAACAAACGCTTAAAATTGAAGTGCCTCCTTAAATTAAAACAACAAAGTCATTTTCTCAAAAATGTAATGAATCACAACATTTTAGAACTGGAAACGTGCTTGCTGGTCACCTCAGCCATCTCCCTCATTTTATGGTAGAGGAAACTCAGGTACAGAGTGGTAGAGTGATTTTTACAGGGAAGAACCAGACCAGGCCTGGAGCCACTACAAAGTCCAGGCCAAGAAGCACAGGAAGCCCCTGTAGCAAGCTCCAATGGGCTTTCACTAATAAAGATGGAAGTGCGTGTCCAGAACGACCAACGTATTACATCTGAGAGCAGAGGCTTTATTTACAATGACATTCAAACAGGATTTAGCAAAGGATGCCTCTTCCTGCTCGCATCTTAGCAGCATGGGTTGTACTTCATAAACAGAAAAGAGAAATATCCTGGGAGCAGGAAGTGAACTCTTTTCTCAGATAATGTTCTCTAAATCCCAACACGTTCCATGCTCCCGGCTCTTAGCAGGTAGTTGGTGGACACTTGGTTATAGCAGCTGGGTGCCAGATGCCTGCATCTCACTGAGGAATGTGTTCAGGGAAGATGTCAACACTGGCCGGGAAAAACATCAGGCTTTCACCTCACTCATGGCCTCCATAAGGCGAGCGCTGTTTGTGACTGCTGTCGTCAGGAAAATGAACCTGTAGCCTAAGGAGTCAAATGCAGCAGCAGAAGAGACAGCACAGATCTTAGGCCCCAACGGCAACCCATAGAGCCTCTCCAGTTCCACAGTCCCCACGGGATCACAGCACCAGTTTATAGACAGAGACGTGAGTGCCATGCTCTTGGGCACCACTGCTTTCTATGACTGGTATAACTGGGCTCCCTGCTGTGGCAGCCCAGAGTTAAGGCTATGGCAAGTTGTATTCTGAGGCCAGGAGAAAAATATTCCTGTGCAGGACACTTTGCGTGTTTTTTTTTTTTCTCTTGAGATGGAGTTTTGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTAGCATTACAGGCACCGGCCACCATGCCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTAGGCTCTAACTCCTGACCTCAGGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGAGATTACAGGTATGAACCACCGTGCCCAGCTGACACTTTGTTACCCAGATACAATGCAGGCCAATTCTCACCTTTCTGCTCTCTCTTACCTTTCTCTCTGCCCAGGAACCGGAGGGCTGAGATCTCAGAGAATGTACGACCACCCAAGAACACCACCAAGATGAGGCGCAGGGACTCACTGGAAGCCTTGTCTTCCTTAGTCATATCTGTGAGGATCAGACCAGATTCAGCCCTTCCCTGACATGCTAGTCCTGAGTGGTGCATCCAGCCCACCTCTCACTGCCAGCCTACCCCACTGTTAATGCCACATACCTGTGAATGCAAAGTCACTGCAGTTGAGCAGCCGTACCACCTCATCAAGGCCCTGCCAGCTTCGCCGCTCTAGCACCTGGGAAGGTGTAAGCACTGTTTTTAAGGCTACAGACAGTATCAGGCTTAGGAAAGGAAGGGCACAGCAGCCAGACTGTCACATTTCTTGCTCATTACTCAAGTAGCAAAAAGTTGAGACAGGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAACACTTTAGGAGTTTGAGGCGGGGGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATATAGTTGGCCCTGTCTATATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACATGCCTGTAGTCCCAGCTACTTCGGAAGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAATAAAAAAAAAAAAACATTGAGACACGCCAGGGACCAAGAGAAAGCAGAGAGAATGAAATATGAATGGGAGCAAGAATTACATGCTCTCACCTGCTCAATGATTCGGCAGCTCAGGGGCACATAAGCACCACCGAAGACGTAAGCCATGTCTCGGGGCACTTTCAGATCATACTCGCCGTCCACACGTGGGATCTGTAAGACAAAGGGACTTCATTAGGCAAGTGACAGCTCAGCTCCCTAACCCTTTAAAGGGTCAGATAAAGTGGCATGGCCCAAGGAACAATTCTTATTTCAACTAAAGGGAGAACCAGCAATAGCCCTGAAAAGAGAATCCATAACGGAAGATGGCAGTTTTTGTTCAGTAACTGCCAGTTCTCTGGAATGAGTTCCCATGCGCCATTATTGAATAATGTAAAGGGGCTGGAGGGATGGCTTCTCCTTTCCCTACCCTTAAGTGACACAGGATATGGTTGTCACTGAAGCAGCACTTAGAATATTCTCTGGCATTGGCAGGTGCTTGTTACATGTTGATTAAATGAATGAATCTACCATGCTATAAGACTACCAAACAAAAGAATCTTTATACACATGAAATGACAAAAAGGTTTTTGTGGATTCAAAGTACTCCACAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAATTCAGCTTTTTGCTGATGGCACGAAAATTGCTCCTCTTGGCCAGAGAACTGAAGGCATCAGTAATCTTTCCTGGGGAAGAAATCTGTGTCAGGTTTCACCTAAGGTCTATGGATTCATGACACTGCCACAGATAACACCATTCAGGACACGACAGCACCAATCACATCCAAAAACTCTCGGAAGCTGTTCAACTATAATTCCCTGGAACTAATCAAGATATACTCCCCACCCTTCTCCCCACCCACAGTCTTCCCCCTCCTACGGGGTACCAGCTCTCTACTAAATGCAATCCACAGGGTAACCCGAGTTTATTGGTATGTGCTTTGGGAGTTAAACCGACCTAACTTACTAACTAAGGGACCTTGGACAAATCACTTAA 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Task1_train_21920 | A mutation found in VPS33B (VPS33B late endosome and lysosome associated) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Arthrogryposis, renal dysfunction, and cholestasis 1 | TTTTTAATACTTGAAAGAAATTAACAGTGTTAGTAGTGTTTATAACTTATGGTAGGGCTATAAGTAGTTTTCTTTTCCTTTTTACTTTCCTTAATCTTCTTACATTTTCTATAATGTGCAAGTGTTATTTTATAATCACCATAAAAAAGTTATGTGTAAAGAAGTATCCATGGAACTCAGCAACTGGTTCAGTTAAGTATCAGGGTGAAGGAGAGGCAAAGATGATTCTGATATTTCAAGCTGAATAGCAGTGCACATTAACAAAAATTAAGTCAGAAGTTAGTTAGGAGAGGACGTTATTGCCTGGAAATCCACTTTGGCCATGCTGAATCACCCAGTGGGCTCAAGTTTCTCTTCTTGGTCTCCTCTACTTGATCTCACCTGAACTAGTGGCTTTAACTAGCACCTCTTTTAAATTCTTCAGACATTGTTGCAAGTCTTTTATGTGCATGTCACTGTGCAAGCACTAAGTATTAAAGAGAAAGAAGCCGGGAGTGGTAGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCTGGGACGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAACATTAGCCAGGTGGGCTAGCGTGCGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCGGGAGGTGGAGGTTGCAGTTAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGTGAGACTGTGTCTCAAAAAAATAAATAAAATAAAATAGAAATAAAATCTGGTCTAAGATGCCCTGCAGTTCTCATCTTGATCCATCTTCCTTCCAGTCCTCACAATGCAGCTGCAGTTCTACATTTCTATCTGCTGGATGTTACAAGCTATATTTCTTACGGGCATCTTAACTTCCCCCATCCAAACCCAAACAAATCAACTTCCCCCATCAAACCTGTTCCTTTTTCTAATTATTTTTCTCATTTCTATTCAATGTTAATACAACAAATATTTATTAAGCACATGGTGTGTGCTTGACTCTAAGCTAGGTACTCACTAGGTAGTGTTGAACAAAACAAACATGATCCCTGCCCACCTTCCAGTCTAATGAGGAATACAGACATAAAATGAATAACTAAATGATTACACAAGTAATCCATTAAAATCACAGTGGCAGTATTATTTTCCTAATAACCCAGGTTAAAAATCTCACTCATTTTTGCTTCTCCTTCAACATTTATAACCAATCAGTAAGTCTTTGAGTTTTCTTTCACCATAACTTAAAAATCCATCACTTTCCTTCATTCCCACTGCTACCAATTTTGTGTGGGCCTTTATTTCTTGTCTGATCTACGGTCTCCTAACTGGCCTTCTTGTTGCCCATTTACGCCACCACACACATCACTATTAGAATCATCAAGTATTGTCTCATGCCACAAATGGAAAAAAAATTTTTTTCAGTGGCTACTGTGTAACTGCTGATGGGTGTCTTCCCTTACATGCCTTGTCTTTCCCTGGTTTGCCAACTTTGCTCCTACCAATCTATCTGCCTGGAGCATGCTTAGTCTCCAAAGAAAATATGCTTATTACTCACACTCACTTCCTTGAAGCTCCTAGATCATCACCCCAACTAGAAATGATCACTTACTGTGAACTCTTCGGGTACACTAGCTCTATCACTCATTTACCACCTGTGTGTGATAATTTGTGCTTCATACAGCTCCTACTGGAGTGGTAAGATCCCTAATGGCAAAGATGTCTTAACCATCTTTCCGTCCCTAGGGATGCCTGGCACTAATGGTGTCTCCCTTGCCTGTATGCGGGGTTGGGGGGTGATTTCCATTAACTCTCTGGCCAGGTTCCAAACAGCTCTTACTACTCCCTGGATTCATTCTGGACCTGCTGGGGAAGCGCCAAGGACAATACCAGGGGCCAAGAACAAGATCAAAGGGGCACGGCAAGGAAGAAATGTGCATCCAATGAGTGCTAAACTGTAGATGCGATAAAGGCGTCAGGCAAGCACTGACCTGCTCCAGCAGATAGATGAGCTGGTCTCGAGCCAGCCTCTTCAGCATGGAGAAGTCAGGCAGCTCAGGGGCGTCCGGCCGATGGGGAAAAGCCATGGCAGCGGTCACCTGCGCCGCGGGGTGGAAGGACGCCCTTCGTTCTGAGAAGGCCGGCCGCAGCCCAGGGAAGCGCAAGGGGGGCTATCCTTCAGGCCTGGGCACCGACTTCCAGAGACCCCAGATGGGCCCTCGCTCCTCAGCAGCACTCCAGGAATGAATGGCCACCTCCAGGCAAGAGAGCTACTACCTCGGAGCAGCCTTGTCTCAGACCTGCAGCCACCGTGTCTCGACCCTCCCTCCCTGATCCACTCTGCCCGTCAGCAGGATTCCGGTCTACACCCCGCAGAGACTCCGCAGCGTACGAGGAGAACCCCGCCTTCTACCAGAAAAAGAAGCGACTTCCTAGATCTCCCGGAAGTCCCTTTCGCTCCCAGCGCTTCGCGTACCAGGAAGGGGACGGCGTCCTGAAAGGGACATTTGAAAAACGGAGGCAACGCGTCTATTAATTAGGTGGCGGCGCCTGGGGTCGCAGCACTCCAGAGGCTGAGGTGGGAGAATCGCTCGAGTCAGGGAGGCGGAGGTTGCAGTGAACTGCGATCGCGCTACTGCACCCCAGCCTGGGCAACAAAGCTAGACCTTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATAATGAATGCATCAGGCTAGCTAACAATACCTCAACTCTGATCAATCATACCATCATATCATTTCCTGGTGAGATGCATAGGAAATACAGAGCATCACCTATTGCCAAAAATTGAACCTAATCAAGCCTCAAGATCTAACTACCAGTTTATAGGCTATATAGAGATTAGCAGGAATATGTTAAGACACCAAAGGTATGAAATCAACCATATCCAAAATGTAGGAAATTATATGGGACAAATGATCTGTCGTCTTCAAAAAAATGGCAAAGTGGGAAATGTGGGAGGGGAAAACACTTCAGAATAAAAGAGATTTAAGAGATGTATCAACAAAATGTTTCAATGTGTGGATCTTTTTTGGATAATAATTCAAAGATAACTGATTTAAGGAATTACTAAAACTTTTCGGGTATTGTATTTCTTTTCTTCTCTTTTTTTTCCTGACAGAGTCTCGCCCTTTTGCCTAGTGGAGGAGCTCGGCTCACTGCAAGCTCCGCGCCACAACCCCCCTGCCGCCCCAGGTTCAAGAGATTCTCCTGCCTCAGTCTCCCGAGTAGACTGGGATTACAGGCGAGTGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCATTATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACGTTGGGCCAGGTATTGTATTTCTATGTTATTATTATTTTTTGTATTTCTATGTCATACAGGCTTGTATTTCTGTTAAAAACAAGTCCTTATCTCTTTGAGATACATACTGAAGTTTTTACAGGTGAAATAATTTGGCCAGGAGTAATGGTTCATGTCTCTAATTCCCACCACTTTGGGAGGTCCAGGTCGGGGTCGGGGGGTTGCTTGAGGCCAGGAGTTTGAGATAAGATTGGTCAACTACAACACATAAAAAATAGCCAGGCATGGTGGTGGGCACCTTTAATCTCGATACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGCGCTACGATCATGCTACAGCACCCCAGCCTGGGCAACAGAGTGAGACACCGTTTGTTTTTTCTTTTCTTTTTTTTTTTTTGAGACAAGGTCTGGCTTTATCTATCACCCAGGCTGGAGTGCAGTGATATGTTCTGTCTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGTTTCTCCTGCTGCAGCCTCCTGAGTAGCTGGGATTACAGGC | TTTTTAATACTTGAAAGAAATTAACAGTGTTAGTAGTGTTTATAACTTATGGTAGGGCTATAAGTAGTTTTCTTTTCCTTTTTACTTTCCTTAATCTTCTTACATTTTCTATAATGTGCAAGTGTTATTTTATAATCACCATAAAAAAGTTATGTGTAAAGAAGTATCCATGGAACTCAGCAACTGGTTCAGTTAAGTATCAGGGTGAAGGAGAGGCAAAGATGATTCTGATATTTCAAGCTGAATAGCAGTGCACATTAACAAAAATTAAGTCAGAAGTTAGTTAGGAGAGGACGTTATTGCCTGGAAATCCACTTTGGCCATGCTGAATCACCCAGTGGGCTCAAGTTTCTCTTCTTGGTCTCCTCTACTTGATCTCACCTGAACTAGTGGCTTTAACTAGCACCTCTTTTAAATTCTTCAGACATTGTTGCAAGTCTTTTATGTGCATGTCACTGTGCAAGCACTAAGTATTAAAGAGAAAGAAGCCGGGAGTGGTAGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCTGGGACGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAACATTAGCCAGGTGGGCTAGCGTGCGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCGGGAGGTGGAGGTTGCAGTTAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGTGAGACTGTGTCTCAAAAAAATAAATAAAATAAAATAGAAATAAAATCTGGTCTAAGATGCCCTGCAGTTCTCATCTTGATCCATCTTCCTTCCAGTCCTCACAATGCAGCTGCAGTTCTACATTTCTATCTGCTGGATGTTACAAGCTATATTTCTTACGGGCATCTTAACTTCCCCCATCCAAACCCAAACAAATCAACTTCCCCCATCAAACCTGTTCCTTTTTCTAATTATTTTTCTCATTTCTATTCAATGTTAATACAACAAATATTTATTAAGCACATGGTGTGTGCTTGACTCTAAGCTAGGTACTCACTAGGTAGTGTTGAACAAAACAAACATGATCCCTGCCCACCTTCCAGTCTAATGAGGAATACAGACATAAAATGAATAACTAAATGATTACACAAGTAATCCATTAAAATCACAGTGGCAGTATTATTTTCCTAATAACCCAGGTTAAAAATCTCACTCATTTTTGCTTCTCCTTCAACATTTATAACCAATCAGTAAGTCTTTGAGTTTTCTTTCACCATAACTTAAAAATCCATCACTTTCCTTCATTCCCACTGCTACCAATTTTGTGTGGGCCTTTATTTCTTGTCTGATCTACGGTCTCCTAACTGGCCTTCTTGTTGCCCATTTACGCCACCACACACATCACTATTAGAATCATCAAGTATTGTCTCATGCCACAAATGGAAAAAAAATTTTTTTCAGTGGCTACTGTGTAACTGCTGATGGGTGTCTTCCCTTACATGCCTTGTCTTTCCCTGGTTTGCCAACTTTGCTCCTACCAATCTATCTGCCTGGAGCATGCTTAGTCTCCAAAGAAAATATGCTTATTACTCACACTCACTTCCTTGAAGCTCCTAGATCATCACCCCAACTAGAAATGATCACTTACTGTGAACTCTTCGGGTACACTAGCTCTATCACTCATTTACCACCTGTGTGTGATAATTTGTGCTTCATACAGCTCCTACTGGAGTGGTAAGATCCCTAATGGCAAAGATGTCTTAACCATCTTTCCGTCCCTAGGGATGCCTGGCACTAATGGTGTCTCCCTTGCCTGTATGCGGGGTTGGGGGGTGATTTCCATTAACTCTCTGGCCAGGTTCCAAACAGCTCTTACTACTCCCTGGATTCATTCTGGACCTGCTGGGGAAGCGCCAAGGACAATACCAGGGGCCAAGAACAAGATCAAAGGGGCACGGCAAGGAAGAAATGTGCATCCAATGAGTGCTAAACTGTAGATGCGATAAAGGCGTCAGGCAAGCACTGACCTGCTCCGGCAGATAGATGAGCTGGTCTCGAGCCAGCCTCTTCAGCATGGAGAAGTCAGGCAGCTCAGGGGCGTCCGGCCGATGGGGAAAAGCCATGGCAGCGGTCACCTGCGCCGCGGGGTGGAAGGACGCCCTTCGTTCTGAGAAGGCCGGCCGCAGCCCAGGGAAGCGCAAGGGGGGCTATCCTTCAGGCCTGGGCACCGACTTCCAGAGACCCCAGATGGGCCCTCGCTCCTCAGCAGCACTCCAGGAATGAATGGCCACCTCCAGGCAAGAGAGCTACTACCTCGGAGCAGCCTTGTCTCAGACCTGCAGCCACCGTGTCTCGACCCTCCCTCCCTGATCCACTCTGCCCGTCAGCAGGATTCCGGTCTACACCCCGCAGAGACTCCGCAGCGTACGAGGAGAACCCCGCCTTCTACCAGAAAAAGAAGCGACTTCCTAGATCTCCCGGAAGTCCCTTTCGCTCCCAGCGCTTCGCGTACCAGGAAGGGGACGGCGTCCTGAAAGGGACATTTGAAAAACGGAGGCAACGCGTCTATTAATTAGGTGGCGGCGCCTGGGGTCGCAGCACTCCAGAGGCTGAGGTGGGAGAATCGCTCGAGTCAGGGAGGCGGAGGTTGCAGTGAACTGCGATCGCGCTACTGCACCCCAGCCTGGGCAACAAAGCTAGACCTTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATAATGAATGCATCAGGCTAGCTAACAATACCTCAACTCTGATCAATCATACCATCATATCATTTCCTGGTGAGATGCATAGGAAATACAGAGCATCACCTATTGCCAAAAATTGAACCTAATCAAGCCTCAAGATCTAACTACCAGTTTATAGGCTATATAGAGATTAGCAGGAATATGTTAAGACACCAAAGGTATGAAATCAACCATATCCAAAATGTAGGAAATTATATGGGACAAATGATCTGTCGTCTTCAAAAAAATGGCAAAGTGGGAAATGTGGGAGGGGAAAACACTTCAGAATAAAAGAGATTTAAGAGATGTATCAACAAAATGTTTCAATGTGTGGATCTTTTTTGGATAATAATTCAAAGATAACTGATTTAAGGAATTACTAAAACTTTTCGGGTATTGTATTTCTTTTCTTCTCTTTTTTTTCCTGACAGAGTCTCGCCCTTTTGCCTAGTGGAGGAGCTCGGCTCACTGCAAGCTCCGCGCCACAACCCCCCTGCCGCCCCAGGTTCAAGAGATTCTCCTGCCTCAGTCTCCCGAGTAGACTGGGATTACAGGCGAGTGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCATTATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACGTTGGGCCAGGTATTGTATTTCTATGTTATTATTATTTTTTGTATTTCTATGTCATACAGGCTTGTATTTCTGTTAAAAACAAGTCCTTATCTCTTTGAGATACATACTGAAGTTTTTACAGGTGAAATAATTTGGCCAGGAGTAATGGTTCATGTCTCTAATTCCCACCACTTTGGGAGGTCCAGGTCGGGGTCGGGGGGTTGCTTGAGGCCAGGAGTTTGAGATAAGATTGGTCAACTACAACACATAAAAAATAGCCAGGCATGGTGGTGGGCACCTTTAATCTCGATACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGCGCTACGATCATGCTACAGCACCCCAGCCTGGGCAACAGAGTGAGACACCGTTTGTTTTTTCTTTTCTTTTTTTTTTTTTGAGACAAGGTCTGGCTTTATCTATCACCCAGGCTGGAGTGCAGTGATATGTTCTGTCTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGTTTCTCCTGCTGCAGCCTCCTGAGTAGCTGGGATTACAGGC 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Task1_train_21921 | This alteration in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | GATACCTGTTAGGTGATCAGGAAGTTACATGGTTTTTCTCATCTTTCCCCACTTCCCAGTATTGAGAACCTCCCCTCGACCCCTGCTCTCCCATTTTTTCTCATTGCTTCCTCATGGTAACTGAAAGGCCTCCGTATTGTAATGTGCTGTGGATCGCATGGTGTTATTTGCAGCAGTCCCAGTTTGCAGTGTACTGCCCTGTGCACCTCTAGAAGATGCAGTGATGGTAAATATAGAACTTCCCCTTACCCTTTCAGGTTTTGTGCCACGTGTCTTATCTCCTGGCTTCTGAACTCAGGGACTTTTCTGTTAATGTTACTGTAGGTTCTGGGTTTTTCCTTGCCCCCCTCAGAGCAAAGATGGGTAGTTTTTAAGCAAGAGTAAACAGTCCACCTCTTGCTGTAGAGTCCATCCGTTTGAGGTCTTTTTGCTTCAGAGTATCTTCCCCTCTACCAGCATGCCCCTCAGTTGCTTTTTCACCATTAGAGGAAGATGAGGATATTGTTTTCTCTGTGCTTGAGATTGATACTCTATCACCCCTCAGTCTCTGTGGTTTCTGTTTTGTTCCTTTAGATGACATCTACCTACTTAGGTTGCTGCTCCCTATGGGATGTTTGGAATGAAGAAGGGAAGGGAGATGTGTGGAGGCCAGTAGCCGTCTTTATTGGGTTGGGTGTTCTCATTAGCATCAGAGTGCCCTTTTTGTTTACTTACTTCTGTTAAGTCTACCACTTCTGGATCTCACTGCAGATTATAAGGCAGGGCCTCTGGATTGAAGTTAATGTGTATAAATTTTTATAAAGCTCCTCAGATGAGCCTAATTTGCTCCTATTAGTGAGAACCACGATTGGATAATTGCAACCAGTTTGCATTCTTCCTCTTTGGGTGAGATGCTTTGTTTTTTTTGTTTTTGTTTTTTGGAGACAGGGTCTCACTGTGACACCCAGGCTGGAGTACAGTGGCGTAATCATGGCTCACTGCATCCTCGACTTCCTAGGCTCAAATGATCCTCCCACCTGAGTTTCCCGAGTAGCTGGGATCGCAGGCATGCACCATCATACCCAGCTAATTTAAACATTTTCTTGAAGAGATGGGTTTTGCATATTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTTCCTGCCTAGGCTTCCCAAAGTGTTGGGATTATAGGCTTGAGCCACTGTGTCCAGCTTGTTTTTTTTTTTTTTTTTTTTCTGGAGACCAAGTCTCGCTCTGTCTCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACATCCTTTGCCTCCCAGGTTCAAGCGATCCTTCTGCCTCAGTCTCCCGAGTAGCTTAGACTGCAGGTGTGTGCCACCACAGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTGTGGTCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTGCTTGGTTTGGTTTTGTTCTGTGTTTTGTTTTTTTCTTGTTGAGAGGGGAATGATACTTAACAGATAAGACTTCGTGGATTCATATATATCTGGTTTCAAATCTTACTGTGTTAACTAGGTGTGAGAGTTAAATACTTATGAGCCTCAGTTCAGCCTCATTTGAATGAAGGGGACAGTAATATCCATGTTCAGAGTTTCTGTCAAGAGCCTGTCCATAGAAATAACCTGTTCTGTAGCATCATGTAAACATTCAGGAAAGGGTAGCTATTGGGGATTTTGAGAATGGTAGCAATAACGTTATTTGGAATGTAAAAGTATAAATGTGAATTTGAAGATTTTGGTCTTATATTACTAAAATTACTATCTGCAAATGTTTTACCATGAGAATTTTTTTTTAAGCAGATTCATGTGTCAGTTCTTAAATATTTTTAAATCTCTCTCTCTCTCAAAATAAGTCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAGGTATCTACTTTGCCCTGCAGTACAAATGTGCTGCTAGCCTAGGACAAGCTAGCAGACCTTTGTTGTTCATGAAAACTCATTAGTATATCTTGATGATGAAACCTACAGCCATTTTTTCTAGTAATATACAGTAGTATATCTGAGGATACAAATGAAGACTTCTTTCTGCTCTATTAAGGAAAATAAATGACCTGAACCATCCAATTATAGGGAGGAAAGACAAATTTTTATACGCTTGGTTTTTAACTTTATTTATTTATTTTTGCAACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCGCAGTGGCACGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCACCCAAGTAGTTGAGATTACAGGTGTCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCGGAGACTGGGTTTCATCATGTTGGCCATTCTGGTCTTGAACTTCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACCTGAGCCACCATGCCCAGCCTAAAATATATTTTTAAGGTTAAAGTGAGCAGTTCCGGAAAGTTAATAATATGTAGTTATAGGTTGGATGGACCTACAAGCCAGTCAGAATGATTGCACTGTGCCTTTGATAATCATTATCCTAAAATGAGAACTTCTAAGGAAGGCTCTTGGTTTTCTATGTACACCTCCTTTTCACATGGTAGCTCTCTGTCCCCCTCCAAAAGCTTATTACTCATGTAAGAGTACTCAGTAGTGAGTAACTCCACATAGTAGATTTTTCATGGAGGAGTTGACTTAGATATCGGCTCTCAAAAGGACAAATAAGAACACAAGATAATTTTAGGATGTAAACATTATAATATATGCTGTAATAAAGTCATAATAGTTGAGCTAGAATGCCTGGCTGGTATCTTGAAGTGATAAAACTAGTTGATGTAGTAACACTGAAATGATTTTGCCCTCCCAGTTAATAAGGGCTCCATAAAAACCTGTGTTGAGTAAAAACTTTCATAGCTCTAGCAGAGGGCCAGGTGTGGGCATGGATAGACAGGCTAGAGTAAAGCGCACTTTCCCTCCTTCCTTTCTCTGCCAGGTTTTTTCAGAGTGTTTTATGTTTACTGCCTCTACCTATATTTCCTACCATTTGGTTATTCCTAACTCCTTCTGTTTGGACCTTTTGTCCTTTAACTCCAAGGTGATGCTAAGGCCGTTACAGAATCTGTGGACTTTGGGTTATGTGATTACATTGGATTCTAGTTGTAAAATGCCTATTCTGGGCCATCTTTTCTTTTGAAGCCTTGATTTTCTTCAGCTTACTTCATCATTTTTATGTTGTTGTTGTTGTTGTTAAAGTCATTGTTGATAATGTCCTTTCTTAGTGACATTGTTGGATCATTTTTCATAAAGATGAGACAGGGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTTCTGGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTATTGACACACCTGTCTAATTTTTAAATTTTGTTGTAGAGACAGGATCTCCCTACGTAGCCCAGGCTGATCTTGAGCTCCTGAACTCAAGCCATTCTTCTGCCTGGACCTCCCAGGGTGGTGGGATTACATGCCTGGCCCTACACTTTTAAATACAAACATTTCACAAGTCTCAGCTAGTGGCTTCTTTTGTGCATGTTCTGAACCTTACTTTTCCAAATATTCTCATGACGTTAGCTGTCACCTGTAATTTGATAACCCATATTTCTCATCTCAGCTTTTGCTACTTGCTTAATTTCTGTTACACCTTTTCATGTCAGTGTTCCACAATCCATT | GATACCTGTTAGGTGATCAGGAAGTTACATGGTTTTTCTCATCTTTCCCCACTTCCCAGTATTGAGAACCTCCCCTCGACCCCTGCTCTCCCATTTTTTCTCATTGCTTCCTCATGGTAACTGAAAGGCCTCCGTATTGTAATGTGCTGTGGATCGCATGGTGTTATTTGCAGCAGTCCCAGTTTGCAGTGTACTGCCCTGTGCACCTCTAGAAGATGCAGTGATGGTAAATATAGAACTTCCCCTTACCCTTTCAGGTTTTGTGCCACGTGTCTTATCTCCTGGCTTCTGAACTCAGGGACTTTTCTGTTAATGTTACTGTAGGTTCTGGGTTTTTCCTTGCCCCCCTCAGAGCAAAGATGGGTAGTTTTTAAGCAAGAGTAAACAGTCCACCTCTTGCTGTAGAGTCCATCCGTTTGAGGTCTTTTTGCTTCAGAGTATCTTCCCCTCTACCAGCATGCCCCTCAGTTGCTTTTTCACCATTAGAGGAAGATGAGGATATTGTTTTCTCTGTGCTTGAGATTGATACTCTATCACCCCTCAGTCTCTGTGGTTTCTGTTTTGTTCCTTTAGATGACATCTACCTACTTAGGTTGCTGCTCCCTATGGGATGTTTGGAATGAAGAAGGGAAGGGAGATGTGTGGAGGCCAGTAGCCGTCTTTATTGGGTTGGGTGTTCTCATTAGCATCAGAGTGCCCTTTTTGTTTACTTACTTCTGTTAAGTCTACCACTTCTGGATCTCACTGCAGATTATAAGGCAGGGCCTCTGGATTGAAGTTAATGTGTATAAATTTTTATAAAGCTCCTCAGATGAGCCTAATTTGCTCCTATTAGTGAGAACCACGATTGGATAATTGCAACCAGTTTGCATTCTTCCTCTTTGGGTGAGATGCTTTGTTTTTTTTGTTTTTGTTTTTTGGAGACAGGGTCTCACTGTGACACCCAGGCTGGAGTACAGTGGCGTAATCATGGCTCACTGCATCCTCGACTTCCTAGGCTCAAATGATCCTCCCACCTGAGTTTCCCGAGTAGCTGGGATCGCAGGCATGCACCATCATACCCAGCTAATTTAAACATTTTCTTGAAGAGATGGGTTTTGCATATTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTTCCTGCCTAGGCTTCCCAAAGTGTTGGGATTATAGGCTTGAGCCACTGTGTCCAGCTTGTTTTTTTTTTTTTTTTTTTTCTGGAGACCAAGTCTCGCTCTGTCTCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACATCCTTTGCCTCCCAGGTTCAAGCGATCCTTCTGCCTCAGTCTCCCGAGTAGCTTAGACTGCAGGTGTGTGCCACCACAGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTGTGGTCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTGCTTGGTTTGGTTTTGTTCTGTGTTTTGTTTTTTTCTTGTTGAGAGGGGAATGATACTTAACAGATAAGACTTCGTGGATTCATATATATCTGGTTTCAAATCTTACTGTGTTAACTAGGTGTGAGAGTTAAATACTTATGAGCCTCAGTTCAGCCTCATTTGAATGAAGGGGACAGTAATATCCATGTTCAGAGTTTCTGTCAAGAGCCTGTCCATAGAAATAACCTGTTCTGTAGCATCATGTAAACATTCAGGAAAGGGTAGCTATTGGGGATTTTGAGAATGGTAGCAATAACGTTATTTGGAATGTAAAAGTATAAATGTGAATTTGAAGATTTTGGTCTTATATTACTAAAATTACTATCTGCAAATGTTTTACCATGAGAATTTTTTTTTAAGCAGATTCATGTGTCAGTTCTTAAATATTTTTAAATCTCTCTCTCTCTCAAAATAAGTCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGACAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAGGTATCTACTTTGCCCTGCAGTACAAATGTGCTGCTAGCCTAGGACAAGCTAGCAGACCTTTGTTGTTCATGAAAACTCATTAGTATATCTTGATGATGAAACCTACAGCCATTTTTTCTAGTAATATACAGTAGTATATCTGAGGATACAAATGAAGACTTCTTTCTGCTCTATTAAGGAAAATAAATGACCTGAACCATCCAATTATAGGGAGGAAAGACAAATTTTTATACGCTTGGTTTTTAACTTTATTTATTTATTTTTGCAACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCGCAGTGGCACGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCACCCAAGTAGTTGAGATTACAGGTGTCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCGGAGACTGGGTTTCATCATGTTGGCCATTCTGGTCTTGAACTTCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACCTGAGCCACCATGCCCAGCCTAAAATATATTTTTAAGGTTAAAGTGAGCAGTTCCGGAAAGTTAATAATATGTAGTTATAGGTTGGATGGACCTACAAGCCAGTCAGAATGATTGCACTGTGCCTTTGATAATCATTATCCTAAAATGAGAACTTCTAAGGAAGGCTCTTGGTTTTCTATGTACACCTCCTTTTCACATGGTAGCTCTCTGTCCCCCTCCAAAAGCTTATTACTCATGTAAGAGTACTCAGTAGTGAGTAACTCCACATAGTAGATTTTTCATGGAGGAGTTGACTTAGATATCGGCTCTCAAAAGGACAAATAAGAACACAAGATAATTTTAGGATGTAAACATTATAATATATGCTGTAATAAAGTCATAATAGTTGAGCTAGAATGCCTGGCTGGTATCTTGAAGTGATAAAACTAGTTGATGTAGTAACACTGAAATGATTTTGCCCTCCCAGTTAATAAGGGCTCCATAAAAACCTGTGTTGAGTAAAAACTTTCATAGCTCTAGCAGAGGGCCAGGTGTGGGCATGGATAGACAGGCTAGAGTAAAGCGCACTTTCCCTCCTTCCTTTCTCTGCCAGGTTTTTTCAGAGTGTTTTATGTTTACTGCCTCTACCTATATTTCCTACCATTTGGTTATTCCTAACTCCTTCTGTTTGGACCTTTTGTCCTTTAACTCCAAGGTGATGCTAAGGCCGTTACAGAATCTGTGGACTTTGGGTTATGTGATTACATTGGATTCTAGTTGTAAAATGCCTATTCTGGGCCATCTTTTCTTTTGAAGCCTTGATTTTCTTCAGCTTACTTCATCATTTTTATGTTGTTGTTGTTGTTGTTAAAGTCATTGTTGATAATGTCCTTTCTTAGTGACATTGTTGGATCATTTTTCATAAAGATGAGACAGGGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGATCTTCTGGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTATTGACACACCTGTCTAATTTTTAAATTTTGTTGTAGAGACAGGATCTCCCTACGTAGCCCAGGCTGATCTTGAGCTCCTGAACTCAAGCCATTCTTCTGCCTGGACCTCCCAGGGTGGTGGGATTACATGCCTGGCCCTACACTTTTAAATACAAACATTTCACAAGTCTCAGCTAGTGGCTTCTTTTGTGCATGTTCTGAACCTTACTTTTCCAAATATTCTCATGACGTTAGCTGTCACCTGTAATTTGATAACCCATATTTCTCATCTCAGCTTTTGCTACTTGCTTAATTTCTGTTACACCTTTTCATGTCAGTGTTCCACAATCCATT 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Task1_train_21922 | Given this context: Chromosome 15, gene CHD2 (chromodomain helicase DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy 94 | ATATTTTCATACAAATTCAAATTTATTTTTGGTAAATACTTTCATTAAAATTGTGTAACTTAAACACTGGCTGATTTCATTGGCCTAATTTTGAGTTTCTAAGAATATAGTTTTAGCTTTGTTAAATCATTAGTTAACCGTTAAAGACGAAAAAAGAGAAATTTATAGGTTTACAAAATAGCGTAAAGCACTACATTCCAAAAATGATTGCAAACAAAGAAAATGAACTCTAAAAAATTGTAGTCAGAGAAGTTTTCCTTGCTATCTCCAGTTCTCCTTTTCTTTGTTCTTTTTACCCCCACTTGGGGGCGATCACCTGCAGGCACTTACTGTCTTGTTCTCCAGTTCCTAACTTGACAGCCAAACTGCAAGAGCGTTGTCATGAGTCTTCGTGCTTGCTGAGTGTCCAGTTATACTTCAGTATGAATGTACTCATCTTTGTGTTCTTTTACATTGACGTTATTATACGTATTGCATTATATTTTCATCTTACAAGCCTCCCTTTTTGTTGGGGGACATATCTCTTTGGTCTATGGTTGATGAAGTTCCAAAGGTTGGAATTTGTTTTACTTGTTAATATATGTATTTTCCTATTCAAAAAGTAAATAAATTGCATTTTTAAAAGAAATTTCTAAGGATCTGGGAGATCCCTTGTTGAGTTCCAATCACCAGGGTTCAGTAGCTGATGAAGTGCATTTTCTTCAGTAGATGTATTTCTGGGGGCCAGTTTCTTCTGATTCTGGCAATAAAGCTTTTGCTGTTCGGTGGTCAGTGTTTTAATTCTAACTCTTACTGCTTTATAGTTTGGTTGCTTAGGTCATTTTAGAATGTGAGATATTCATTGAATTCTAATCAGATTTATTTTTTATTTGGCATGTTTCTATTACATCAATCACAAAACTTATGTGATATAGAAAGGTAGAAGTAGAAATTATGTCTTAATTATGTTTTTTTCTTATAGATACGGGAATATGAATGGATTCATTCCCAAACCAAAAGATTGAAGTTCAACGCACTTATAACAACATATGAGATCCTCTTGAAAGATAAGGTGTGTAATTAATATCTAAAAGGCTAAATCTTTTCCAGTGCGACTTGTCCAGATGGTAGGGTCTGTTACTGTTCTGTGGAGCATGTTAGAAATAAATACTTGAAAGTTAAAAATAAAAAACAAATGGTAGGGTCTGTACCTCCTACTTGCCATGTTACTTTTCTTCTCTTATTTCAAAAAGCAAGCAAATGAACAACCAGAAAAATTACTTTTCAAAGGATATTAACGTTATAAATAGAAAACAGAACCCTATAGATGAGGGGACCTTAGGTCACCAAGTCCAGTTGAATTAAACAGAATGAAAGGGTATTGAATAGGTCAGTAACTTACCTGAGATTATTGTCAGTCATTGGATGCCATCTCAGGTATTTCCCTTGAATGTCATCTTAGGCATTTCCTATTGTATCATTGTTAAGGCATTTCTCCAGAAAAGATGATGTGAATGGTCTTTGTGAGGAGGACAAAAATAAGAAGCTCTTTAAATACCGCCTTTCTGCTAAGAAATATATGTGGTAGGTAGATCCCATTGGTATTAAGTGCAAACAAGTTGAGTTTGGTGGCTCTTGGTGTTTGTGTGCTTCAGGGTTGGGGTGGAGAATAGGCAAGAGAAGGACCATAATTAAGGGGAGAATACAGAATCATATGGTTTTTTTGTTTTATTTTTGCCCAGCATAGCAATTTTTGTGTTCTTGCTGTGGGGCATGCAGTAATAGCTGGTATAAGAGGCCCACCTATACCTTTTAGATGATGATACTCTCTTTTGAATAGCTACCAATCTGGCAACTAACAGAATAAACAGAAGAGGCCTAATATATATTGTCAGTGAAGAATAAATGTGTCAATTTATACCTTTGTAATGGTATTTATACAGAGATAATTAACACTTGAAAGCACTTGTGGGTTCCCTTCTGACCTGGTGGCTCGTTCTGTTTTGTTTTTACTTTAGACTGTGCTGGGCAGTATTAACTGGGCCTTTCTGGGAGTGGATGAAGCCCATCGGTTGAAGAATGATGACTCTTTATTGTATAAAACTCTGATTGATTTCAAGTCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGTCCTTGCTGCACTTTATTATGCCGGAGAAGTAAGCTCCTTCCTGTGTATTTCAAAAGATGCTAGAATGTCTGAAATGCCAATGCTTTTTAACTTTCTTAGTAGACCTTAGGGAAAACAGATGGCATGGTTTGGGGAAAGCAAAGCGTCAAATGGAGGCAGGGATGGCGGTAGTAAAATGTTTCATAATCAATGAAAGAAGGCACAGAAATTAGCCTGTTAAGGAGGAAAGCAGTATTGTCTGCTGAAAGGCTGAATTAGTTAATGCACTTGGGAAATAATTGTTAAATAGATAACATCAGACCTTTTCACTGTTGGTATAAGATAATCAATATAAGTAAAATGAAATATACAAGGTACACAAGCACTGAAAAGTATGTTATACTCAAATATCTGATAACCGAAGCATCAATTTTACATCTTATTCACGTATTATTAAAGAACTATGGAATGTGTTTATTGAAAAGATTTTTATGGGAGAGATGATATGCACATTTCATAAAACTTAAAATTATCCAATGGTATTCAGCGATACTTAGAATAACATCTATATTCATTAATTTGGAGGACTCCACTCAGTCTGGCCCCTTGACAATAGTCTGATTCCTCTCATCCACTTTCTCCATTACTCATTATGCTTCAGCCATTCTGGCTATCTTTCTGTCCCTTAAACATGCCAAGCCATTACTATTCCTTCTTGACTAGAATTATATTTCTTCTTGTCTTCACATGGCCAACCACCTTAATGTTTCAGCTCATCTTAAACGACCACCTCCTTTCAGAAATCTTTTGCAGATTGCCTAACCTAAAGTAGCCCTTTAGACATCTTATCCCTAACCTGTTTTAGTGTCTATATAGCATCTCTTTTTACATTTATGTTCTCATTCATCTCATGTCATTAAATTATGTATGAAAATCGCAGGGATTTTGTTTGCTTGATTCATTGCTGGTTCCCATTGTCTAGAATAGCACCTGGTGCACAGTAAACAATTCAGTTAATAGTTGTTCAGTTGATAGATATATGCTCTACAATCTTTTTTTTTTTAATTCAGGATTAAATTTTATTTTTTACTTTTATTTTTATTTTTAAATTTTAAATTTAAATTTGTTTAGTAACTTTATAGTTTGCAACCATCATCATTGTCCAGTTTTGGAACATTTTCCTCATCCCAAAAAGTTCCCCCTTGCTTGTTTGCAGTTAACCTCTGCTTCCACATATAGCCTTAGGCAACCAGTAATCAGCTTTTGTCTCTAGAGATTTACCTTTTCTAGAAGTTTTATATAAGTGGAATCCTAATATGTAGGCTTTTGTTTCCGGCTTCCTTCACTTAGCATATTTTTTTTGAGATTCATTCATGTCAGAGTCTGTCAGTAGGTGTTCTCTTTCATTGGGTAATATTTCATTGCATCCAGTTACCGGTTGATGGACATTTGGATTGCTTTGTTTTGGGGTTATTATATCTTTGTGTGGACATATGTTTTTCTTTCTCTTGCTTAGAGACTTAGGAATAGAATTGCTGGATTGTTTGGAAAGTTTATGTTTAACATTTTAGAAACTACCACGCTGTTTTCTAAAGTGACTACCATTGTGCAGTCCTACCAAAAATGTTTGAAGGTTCTAGTTTCCCTGCGTCATCACCAGGACTTGGTGCATTGTCAGTCTTTTTGATTCTAGCCGTTCTGGCGAATGTGTGTCATTGTGGTTTTGACTTGCATTTCCCTAATGACTAATGATGTTGAACGTCTTTTCATGTGTTCATTAGCCATTTGTATGTCTTTGGTGAAATTTCTATTCAAATGTTTTGGCATTTTAACTCAGGCGTCGTGTTCCGTCATTGGAACTCTAAGCATGTGGGAATTATTTATATCCTACTGCTCAAGGTCATTGCCAAGGTCTGATTGCAAAAAATTCAAAAAATTGCAACCTCTATCATAAATG 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ATATTTTCATACAAATTCAAATTTATTTTTGGTAAATACTTTCATTAAAATTGTGTAACTTAAACACTGGCTGATTTCATTGGCCTAATTTTGAGTTTCTAAGAATATAGTTTTAGCTTTGTTAAATCATTAGTTAACCGTTAAAGACGAAAAAAGAGAAATTTATAGGTTTACAAAATAGCGTAAAGCACTACATTCCAAAAATGATTGCAAACAAAGAAAATGAACTCTAAAAAATTGTAGTCAGAGAAGTTTTCCTTGCTATCTCCAGTTCTCCTTTTCTTTGTTCTTTTTACCCCCACTTGGGGGCGATCACCTGCAGGCACTTACTGTCTTGTTCTCCAGTTCCTAACTTGACAGCCAAACTGCAAGAGCGTTGTCATGAGTCTTCGTGCTTGCTGAGTGTCCAGTTATACTTCAGTATGAATGTACTCATCTTTGTGTTCTTTTACATTGACGTTATTATACGTATTGCATTATATTTTCATCTTACAAGCCTCCCTTTTTGTTGGGGGACATATCTCTTTGGTCTATGGTTGATGAAGTTCCAAAGGTTGGAATTTGTTTTACTTGTTAATATATGTATTTTCCTATTCAAAAAGTAAATAAATTGCATTTTTAAAAGAAATTTCTAAGGATCTGGGAGATCCCTTGTTGAGTTCCAATCACCAGGGTTCAGTAGCTGATGAAGTGCATTTTCTTCAGTAGATGTATTTCTGGGGGCCAGTTTCTTCTGATTCTGGCAATAAAGCTTTTGCTGTTCGGTGGTCAGTGTTTTAATTCTAACTCTTACTGCTTTATAGTTTGGTTGCTTAGGTCATTTTAGAATGTGAGATATTCATTGAATTCTAATCAGATTTATTTTTTATTTGGCATGTTTCTATTACATCAATCACAAAACTTATGTGATATAGAAAGGTAGAAGTAGAAATTATGTCTTAATTATGTTTTTTTCTTATAGATACGGGAATATGAATGGATTCATTCCCAAACCAAAAGATTGAAGTTCAACGCACTTATAACAACATATGAGATCCTCTTGAAAGATAAGGTGTGTAATTAATATCTAAAAGGCTAAATCTTTTCCAGTGCGACTTGTCCAGATGGTAGGGTCTGTTACTGTTCTGTGGAGCATGTTAGAAATAAATACTTGAAAGTTAAAAATAAAAAACAAATGGTAGGGTCTGTACCTCCTACTTGCCATGTTACTTTTCTTCTCTTATTTCAAAAAGCAAGCAAATGAACAACCAGAAAAATTACTTTTCAAAGGATATTAACGTTATAAATAGAAAACAGAACCCTATAGATGAGGGGACCTTAGGTCACCAAGTCCAGTTGAATTAAACAGAATGAAAGGGTATTGAATAGGTCAGTAACTTACCTGAGATTATTGTCAGTCATTGGATGCCATCTCAGGTATTTCCCTTGAATGTCATCTTAGGCATTTCCTATTGTATCATTGTTAAGGCATTTCTCCAGAAAAGATGATGTGAATGGTCTTTGTGAGGAGGACAAAAATAAGAAGCTCTTTAAATACCGCCTTTCTGCTAAGAAATATATGTGGTAGGTAGATCCCATTGGTATTAAGTGCAAACAAGTTGAGTTTGGTGGCTCTTGGTGTTTGTGTGCTTCAGGGTTGGGGTGGAGAATAGGCAAGAGAAGGACCATAATTAAGGGGAGAATACAGAATCATATGGTTTTTTTGTTTTATTTTTGCCCAGCATAGCAATTTTTGTGTTCTTGCTGTGGGGCATGCAGTAATAGCTGGTATAAGAGGCCCACCTATACCTTTTAGATGATGATACTCTCTTTTGAATAGCTACCAATCTGGCAACTAACAGAATAAACAGAAGAGGCCTAATATATATTGTCAGTGAAGAATAAATGTGTCAATTTATACCTTTGTAATGGTATTTATACAGAGATAATTAACACTTGAAAGCACTTGTGGGTTCCCTTCTGACCTGGTGGCTCGTTCTGTTTTGTTTTTACTTTAGACTGTGCTGGGCAGTATTAACTGGGCCTTTCTGGGAGTGGATGAAGCCCATTGGTTGAAGAATGATGACTCTTTATTGTATAAAACTCTGATTGATTTCAAGTCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGTCCTTGCTGCACTTTATTATGCCGGAGAAGTAAGCTCCTTCCTGTGTATTTCAAAAGATGCTAGAATGTCTGAAATGCCAATGCTTTTTAACTTTCTTAGTAGACCTTAGGGAAAACAGATGGCATGGTTTGGGGAAAGCAAAGCGTCAAATGGAGGCAGGGATGGCGGTAGTAAAATGTTTCATAATCAATGAAAGAAGGCACAGAAATTAGCCTGTTAAGGAGGAAAGCAGTATTGTCTGCTGAAAGGCTGAATTAGTTAATGCACTTGGGAAATAATTGTTAAATAGATAACATCAGACCTTTTCACTGTTGGTATAAGATAATCAATATAAGTAAAATGAAATATACAAGGTACACAAGCACTGAAAAGTATGTTATACTCAAATATCTGATAACCGAAGCATCAATTTTACATCTTATTCACGTATTATTAAAGAACTATGGAATGTGTTTATTGAAAAGATTTTTATGGGAGAGATGATATGCACATTTCATAAAACTTAAAATTATCCAATGGTATTCAGCGATACTTAGAATAACATCTATATTCATTAATTTGGAGGACTCCACTCAGTCTGGCCCCTTGACAATAGTCTGATTCCTCTCATCCACTTTCTCCATTACTCATTATGCTTCAGCCATTCTGGCTATCTTTCTGTCCCTTAAACATGCCAAGCCATTACTATTCCTTCTTGACTAGAATTATATTTCTTCTTGTCTTCACATGGCCAACCACCTTAATGTTTCAGCTCATCTTAAACGACCACCTCCTTTCAGAAATCTTTTGCAGATTGCCTAACCTAAAGTAGCCCTTTAGACATCTTATCCCTAACCTGTTTTAGTGTCTATATAGCATCTCTTTTTACATTTATGTTCTCATTCATCTCATGTCATTAAATTATGTATGAAAATCGCAGGGATTTTGTTTGCTTGATTCATTGCTGGTTCCCATTGTCTAGAATAGCACCTGGTGCACAGTAAACAATTCAGTTAATAGTTGTTCAGTTGATAGATATATGCTCTACAATCTTTTTTTTTTTAATTCAGGATTAAATTTTATTTTTTACTTTTATTTTTATTTTTAAATTTTAAATTTAAATTTGTTTAGTAACTTTATAGTTTGCAACCATCATCATTGTCCAGTTTTGGAACATTTTCCTCATCCCAAAAAGTTCCCCCTTGCTTGTTTGCAGTTAACCTCTGCTTCCACATATAGCCTTAGGCAACCAGTAATCAGCTTTTGTCTCTAGAGATTTACCTTTTCTAGAAGTTTTATATAAGTGGAATCCTAATATGTAGGCTTTTGTTTCCGGCTTCCTTCACTTAGCATATTTTTTTTGAGATTCATTCATGTCAGAGTCTGTCAGTAGGTGTTCTCTTTCATTGGGTAATATTTCATTGCATCCAGTTACCGGTTGATGGACATTTGGATTGCTTTGTTTTGGGGTTATTATATCTTTGTGTGGACATATGTTTTTCTTTCTCTTGCTTAGAGACTTAGGAATAGAATTGCTGGATTGTTTGGAAAGTTTATGTTTAACATTTTAGAAACTACCACGCTGTTTTCTAAAGTGACTACCATTGTGCAGTCCTACCAAAAATGTTTGAAGGTTCTAGTTTCCCTGCGTCATCACCAGGACTTGGTGCATTGTCAGTCTTTTTGATTCTAGCCGTTCTGGCGAATGTGTGTCATTGTGGTTTTGACTTGCATTTCCCTAATGACTAATGATGTTGAACGTCTTTTCATGTGTTCATTAGCCATTTGTATGTCTTTGGTGAAATTTCTATTCAAATGTTTTGGCATTTTAACTCAGGCGTCGTGTTCCGTCATTGGAACTCTAAGCATGTGGGAATTATTTATATCCTACTGCTCAAGGTCATTGCCAAGGTCTGATTGCAAAAAATTCAAAAAATTGCAACCTCTATCATAAATG 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Task1_train_21923 | The variant affects gene CHD2 (chromodomain helicase DNA binding protein 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy 94 | AAAAAAAAAAAAGATTCCAGGAGGGTCTTAATTTTTACTTGCATGCCTTTAGGCTACCATATGAAAGTGGTCATGAGGAGACGATTCTTTTTTTGAAGGTGGGTGGGGAGGATTAGAGAAAGTCAAACGGGGCAAGATAAAAAAAGGATGTCAGATGGCATCTTATTGCATGTGTATGGTGAAAGTAGAGAGGAAGTAAGTGTGAGCTCAATTCCAGGAGCCCAAATCCTAGAAGGAGAGGGCAGTATCAGACATTCCCCCCAAAAGTTGACCCTGGCTGTGAGGCTGGGAACATAGCAGAACACTGCTACTTAAAACCTTGCTACTCCCTGAAGTAAGTGATGATGGCTTCCCCTATTTTCTGTGGAGTTCCTTAACTGGAGTTACTGTCTTCACACAGTTATCTCCTATGGGGAAAATTTCTTCCGCATAGTAACATTTTTCTAGGTGTATATAATCTAGTAGAAACTTATTCTCTGATCTATTTATAGACACATAGACATATACGCAATTTACCTTGTCTCTTGGCATGTTTATAGTGCTTTGATTTTTAAGATTTATTACATTTTTTTTAAAACTTTGAATGGATGAACTCTTCTACCAACTCACATAATTATGTTGGGATTGAAGAAACTTGGACCAATGATTATCTCCTAAGAAGGCCCACCTTTGAGACTATCAGATTGATTATCTTTCAAAATACCCTGAAAGGCATTGTTATATCCATAATATCTTATATGGTCTTTCAGTTGCTGTCTTAGAATATAGCTTAAGGCTGTGCTTGTTATCAAGAAACAGCCTATTGCAAAAAGTCACTTCTCTGTCAGTGAATCGAATCCCTATGAGCTTTCATTCCTAGGAAATCCCGTGATACCAAGTAAATCAAGAATGCATCGTTTTTCTCTCTAGGGAATAGATAAGCTTGGTCAGTGACTTTTAGATAATTAATGCCCTCTACTAATGGGAATATTAAAAGGCGGCATTAGGTTTTCTGATTTCAAGTAAAGGCTCTGAATCTCCCATTGAATACGTCTTCGGTTTAAGGCTCTGAGTAGAGTAGTCAGTGAGAAAGAAGTAAGGGACTCCTCACCTGTCAGTTGACTTGAGTTAGGTCTGGTGGGCAGAGTTCTGGGTATGTAGGCCCTTCCACAGAGTCTGCTGCCAGCCAAGTCACCTTTCAGGTTAGTTTTGCCTTCTGTAAAATGAAGTATTTTGTTCATCTCAAGTGGTGATTGTGAGGGGATGAAATGCAAAAATGATTTTAAAGAGTAAGAAATGCTTTATAAAATGTACAGCATGCAGGTGATAATTCTTTAGTATTTTATGTGTCAATGGTTTCTCTATGGTGACATTGTATTGCATGTAGAACTGACATATGTTCTAATAAAGGAATTGTGTATGCTAATAAATGCCAGGGGCTTTCTTGAATTCTCATGTAGTTTAGCTGCTTGAACACTTTACTATGATTTCAGAGTGTAATTTTTGGCAAAGCTGGGATATATGATCAATTTTAACATTTTCAATGATTCAGCAAAATGTTTTTCAAACAAAATTATTATATAAATAAATTTTTGGTTTGTGTGACACTTTAAGTGATAGTTTTAGCCACATTAGCTAAGAAGCATCATTTTTCTGCAGGAGCTTATTATTGGGTGACCCGTGGTCCTATTTCCTAATCTCTGCAGTACCTACAGAAACAGAAGTAAACCCAGCCTCCAAGCACAGGTTGGGTTTTCGTCTTTCTCCTTTTAGGTCCTGGCAGCCATTCTGATCCTTGGCTAAACCTGGACAGCCCTTTGAATCAGAAGCTTGTAACCTTGAGTCTGTAACTGGAGAGCTCAGGTCGAGTAGGGTAGGGTGTGCTTCTTAAGCACAGCTTCTTCATAGCGCTTTGCCAGTGCTTTGCAGTTATTTTTACTCAGTGGGTGTTCAGGTGATAAAGGTTCCAAGTCTGCTGTTCTATTCTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGCATCAAGGGGAAAGTCTCTCTCGCTTAATGTATTCTGTTTCAGAAACAATTTATAGTGCAATTCTTTTGCCTTGAGAAGAAAATGAGAAATCTCTCATATAAAAGATGGTGTTTTGTTGTCACTCCAGAAAAATAAATATGTGCTTATTTATCTCCCCTGTTCTGGGTTGACAACAGAGTGGTTCTCCTGGTAGCTTCCAGATACCAAATCCTTGGGCGTGGAAGAGCAGTAAGGCAGGAGTAGGGGAGAGTTGGGCAATAGAATTAATATAAGAAGGTTCTGATCTCTGTACTCTTTTGGTGACTAAGTCCTGAAAAATATATTTGCCATGTCTCAAATTTGTTGGACTTCTGATACAGTGTGGCTTAATGTTCTTGCTCTCGCTAACAGCAACATTTTACAATCAGTGTCGAGCTTGGATTTGGCATTATGAAGTATTTTGTTTGGGGGGCACATATAGAAGAGCTACTTAGGATGAAATAGAAGGTATGACAACATTGTAGTTTGTGCATATCAAATCATCAGATGCCATGGGATTTGAGAGAAGTGGGAGAGAAAAGTTTTGGTGTGAATAAAACTGTAATAATGTGTAGAGCTAAAGGAAGCAGTGGAGACAACCTGAAGTAGAAGTGTTTCACAGAGAATGCTAATTTCTGGAGCCTGAGCCACTACTTTTTTTTTTTTTTAAACAGATAGAACAGACTTAGCTTTCTGAAGAGCTTTAAAAACTCTTGATGCCTGTGCCTGTTACTACAGAATGCTCTGCTGTCTGCCTTTAGAGTGTAGAAATCCTAGTTAGACTAGTATTCTGGCTACTTCTGTAGTCTAAACATTTACTTCTTGAGGGGCTTGGGGCATTAATCTATTCAGAGCCAAGGCTCTCGTTCATTAAGGATAAGAGGAATGGAATAATTAAAGACATCGGTCATCAACTAATTCCCATTCCTCCTTTCCTTGCTCCTTGTTTCCTCAGCTGTAAAATCACAATGATTCTGATACCCCACTTCATAATATTGCTCTGAGGATTAAATTTGGTAATCAACATAAAGCACTGATCACATTGCCCAGTGCATAGTAAGCGCTCTAAATATCTGCTATTTTTATCATGTAGTGTTGGTTGAAATTGGTTTTGTGTTCTCCACTCTTAGTTTAAAAAATAGTATGAGTCGAATGTTTCATATTGCCCTGTCTCAGGGGAAAAAAAAAATTGCTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATT 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AAAAAAAAAAAAGATTCCAGGAGGGTCTTAATTTTTACTTGCATGCCTTTAGGCTACCATATGAAAGTGGTCATGAGGAGACGATTCTTTTTTTGAAGGTGGGTGGGGAGGATTAGAGAAAGTCAAACGGGGCAAGATAAAAAAAGGATGTCAGATGGCATCTTATTGCATGTGTATGGTGAAAGTAGAGAGGAAGTAAGTGTGAGCTCAATTCCAGGAGCCCAAATCCTAGAAGGAGAGGGCAGTATCAGACATTCCCCCCAAAAGTTGACCCTGGCTGTGAGGCTGGGAACATAGCAGAACACTGCTACTTAAAACCTTGCTACTCCCTGAAGTAAGTGATGATGGCTTCCCCTATTTTCTGTGGAGTTCCTTAACTGGAGTTACTGTCTTCACACAGTTATCTCCTATGGGGAAAATTTCTTCCGCATAGTAACATTTTTCTAGGTGTATATAATCTAGTAGAAACTTATTCTCTGATCTATTTATAGACACATAGACATATACGCAATTTACCTTGTCTCTTGGCATGTTTATAGTGCTTTGATTTTTAAGATTTATTACATTTTTTTTAAAACTTTGAATGGATGAACTCTTCTACCAACTCACATAATTATGTTGGGATTGAAGAAACTTGGACCAATGATTATCTCCTAAGAAGGCCCACCTTTGAGACTATCAGATTGATTATCTTTCAAAATACCCTGAAAGGCATTGTTATATCCATAATATCTTATATGGTCTTTCAGTTGCTGTCTTAGAATATAGCTTAAGGCTGTGCTTGTTATCAAGAAACAGCCTATTGCAAAAAGTCACTTCTCTGTCAGTGAATCGAATCCCTATGAGCTTTCATTCCTAGGAAATCCCGTGATACCAAGTAAATCAAGAATGCATCGTTTTTCTCTCTAGGGAATAGATAAGCTTGGTCAGTGACTTTTAGATAATTAATGCCCTCTACTAATGGGAATATTAAAAGGCGGCATTAGGTTTTCTGATTTCAAGTAAAGGCTCTGAATCTCCCATTGAATACGTCTTCGGTTTAAGGCTCTGAGTAGAGTAGTCAGTGAGAAAGAAGTAAGGGACTCCTCACCTGTCAGTTGACTTGAGTTAGGTCTGGTGGGCAGAGTTCTGGGTATGTAGGCCCTTCCACAGAGTCTGCTGCCAGCCAAGTCACCTTTCAGGTTAGTTTTGCCTTCTGTAAAATGAAGTATTTTGTTCATCTCAAGTGGTGATTGTGAGGGGATGAAATGCAAAAATGATTTTAAAGAGTAAGAAATGCTTTATAAAATGTACAGCATGCAGGTGATAATTCTTTAGTATTTTATGTGTCAATGGTTTCTCTATGGTGACATTGTATTGCATGTAGAACTGACATATGTTCTAATAAAGGAATTGTGTATGCTAATAAATGCCAGGGGCTTTCTTGAATTCTCATGTAGTTTAGCTGCTTGAACACTTTACTATGATTTCAGAGTGTAATTTTTGGCAAAGCTGGGATATATGATCAATTTTAACATTTTCAATGATTCAGCAAAATGTTTTTCAAACAAAATTATTATATAAATAAATTTTTGGTTTGTGTGACACTTTAAGTGATAGTTTTAGCCACATTAGCTAAGAAGCATCATTTTTCTGCAGGAGCTTATTATTGGGTGACCCGTGGTCCTATTTCCTAATCTCTGCAGTACCTACAGAAACAGAAGTAAACCCAGCCTCCAAGCACAGGTTGGGTTTTCGTCTTTCTCCTTTTAGGTCCTGGCAGCCATTCTGATCCTTGGCTAAACCTGGACAGCCCTTTGAATCAGAAGCTTGTAACCTTGAGTCTGTAACTGGAGAGCTCAGGTCGAGTAGGGTAGGGTGTGCTTCTTAAGCACAGCTTCTTCATAGCGCTTTGCCAGTGCTTTGCAGTTATTTTTACTCAGTGGGTGTTCAGGTGATAAAGGTTCCAAGTCTGCTGTTCTATTCTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCGGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGCATCAAGGGGAAAGTCTCTCTCGCTTAATGTATTCTGTTTCAGAAACAATTTATAGTGCAATTCTTTTGCCTTGAGAAGAAAATGAGAAATCTCTCATATAAAAGATGGTGTTTTGTTGTCACTCCAGAAAAATAAATATGTGCTTATTTATCTCCCCTGTTCTGGGTTGACAACAGAGTGGTTCTCCTGGTAGCTTCCAGATACCAAATCCTTGGGCGTGGAAGAGCAGTAAGGCAGGAGTAGGGGAGAGTTGGGCAATAGAATTAATATAAGAAGGTTCTGATCTCTGTACTCTTTTGGTGACTAAGTCCTGAAAAATATATTTGCCATGTCTCAAATTTGTTGGACTTCTGATACAGTGTGGCTTAATGTTCTTGCTCTCGCTAACAGCAACATTTTACAATCAGTGTCGAGCTTGGATTTGGCATTATGAAGTATTTTGTTTGGGGGGCACATATAGAAGAGCTACTTAGGATGAAATAGAAGGTATGACAACATTGTAGTTTGTGCATATCAAATCATCAGATGCCATGGGATTTGAGAGAAGTGGGAGAGAAAAGTTTTGGTGTGAATAAAACTGTAATAATGTGTAGAGCTAAAGGAAGCAGTGGAGACAACCTGAAGTAGAAGTGTTTCACAGAGAATGCTAATTTCTGGAGCCTGAGCCACTACTTTTTTTTTTTTTTAAACAGATAGAACAGACTTAGCTTTCTGAAGAGCTTTAAAAACTCTTGATGCCTGTGCCTGTTACTACAGAATGCTCTGCTGTCTGCCTTTAGAGTGTAGAAATCCTAGTTAGACTAGTATTCTGGCTACTTCTGTAGTCTAAACATTTACTTCTTGAGGGGCTTGGGGCATTAATCTATTCAGAGCCAAGGCTCTCGTTCATTAAGGATAAGAGGAATGGAATAATTAAAGACATCGGTCATCAACTAATTCCCATTCCTCCTTTCCTTGCTCCTTGTTTCCTCAGCTGTAAAATCACAATGATTCTGATACCCCACTTCATAATATTGCTCTGAGGATTAAATTTGGTAATCAACATAAAGCACTGATCACATTGCCCAGTGCATAGTAAGCGCTCTAAATATCTGCTATTTTTATCATGTAGTGTTGGTTGAAATTGGTTTTGTGTTCTCCACTCTTAGTTTAAAAAATAGTATGAGTCGAATGTTTCATATTGCCCTGTCTCAGGGGAAAAAAAAAATTGCTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATT 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Task1_train_21924 | A variant on Chromosome 15 in gene CHD2 (chromodomain helicase DNA binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy 94 | CTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGA 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CTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTTGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGA 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Task1_train_21925 | Here’s a variant in CHD2 (chromodomain helicase DNA binding protein 2) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy 94 | TCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATAGGCCCACCTCAGCCCCTCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGCCCGCTGCAGCTATGTTAAAGGTGTATTCAAATTAG 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TCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGGAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATAGGCCCACCTCAGCCCCTCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGCCCGCTGCAGCTATGTTAAAGGTGTATTCAAATTAG 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Task1_train_21926 | Here is a mutation in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 94 | CTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATAGGCCCACCTCAGCCCCTCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGCCCGCTGCAGCTATGTTAAAGGTGTATTCAAATTAGCCCTTCCTAAAT | CTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACCTGTCTCTACCAAAAAAAAAAAAAAAAGTTTCCCCATGTTATTAAAGATTTTACAAAATTTAATTTCTAGGCCCATAGCAAGACCCTATCTCTACAAAAAATTAAAAAATGAGCCGTGCATAGTATTGTGTGCTTGTAGTTCCAGCTGTTCAGGAGACAGGCAGGAGGATCCCTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCCAGGATTGCCCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAATTTTTTTTTTAAATTTCTAAATTTTTCTTATGCTTGTACCATTTATTTATTTAACTACCTTACCGTTAGTGGCATTGAGTTTTATAATTTTTTAACCTTTTTCAACTTGATCATAGATGCAGACGACATATTATAATCCACGTTATCCTTGCTAAAGAGTGATATAGCAGATTGTTGGTTGATAGGATCTTTTTGACTCCAGATTTCATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCTGCTACAAAGGCATCAGCTTTTGACATATATGATTAAATTCCCTGAAAATAGAAATATTTCACCTTTTCCCCCCGGCTTATATATTTTATTCTTTTTCTCCTGCCCCCATATTTTTCTGAGCACTCAGACGCAGGCAGGTGTGCTGTGCTTGCCCAGTGTCTACTGTCATTGCTGTGGATACTGCAGTGTCAGTGCCTGGGTGGTTCCACACATCGCTCTCCAGCCAAACCTGTTTTGATTTTTTTATAATTTTGGCATGTTTTGTGGTAATTGAGGATCCTGTGGTTCTCAACACTTACCATATATGATCTCTTTAGTGCAGTGTTTCTATATTTCTCGCCAGCCTAACAAACATAAATATTTATATAATAAAGTATCTCTGTTTATACTAACTGACTTACATGGCATAATCTACCTTTTCCCTAAAAATAATTATACAGGTGACTTCCTGGAGTTAATGATCTCCATGATAATTGTTTGTCTGTTTTTATTATTGTTGCTGTTAACTTCTTGTATATTAGTTGTAGCCGGGAGGTAGCACTAATTCTCTCACTCCCATTGCCTTATTAGAGTCTACTCTACTCCTGTTCATGGCACTGACTTTGCCTCTTAATCAAATGAAAATTCATTCTACCATCAAGTCCCTGACATTCTTTTAGCCTCCATAAAGTTTGTCCATCATATCTCACTTTTCTTCACACCTGCAGGGGTTTCCAGGTGTAAGGGCTTATTGGACTGTGAAACTGTTTCTGAGAAGGCCACTGCATAAAGTAGTATATTGCATTGTGTACAGGACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCGGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTGCTTTAGGGTTGGGGGCCAGGGGGCTTGTTCAGCCCTTTCAGGATGTTAATAAAATGCTTTTTCCCTGTTTTGCTTTTATTTCCCCTGAAGCATTGATTTCTGTTTGTTAACTAGCACAGAGATGTTGTCTTTGGGCCCAAGATGAACCTATTAAGGAACTTTTCTTTTTCTCTGTTTGAAAAGTACAACATCAGCGACCTTCTATGTGTTTATCTTGAGAGAGATATATGATGAATAGACTTAGAACTGAACATTTTCTCTATTTTAGTATGGAAAAGTTAAATATCCTATTGTTCAAGATGGTTTGTTTTTATTATACATGACAGTGTTAGCTTTAAAGGTACTTTGGAAAACCACACACTTTTTTGTTTATGAATCTTAAAGTCTGTTCTATATTGGATAACCCGTAAGTTTCATTCTTGGCCAAAGATTCTGTTTTTGTGGAACTTTCCATCACTGAAGCACGATTTTTATTGATGGAACAGGCCATAACGACAGATCTTTAGAGGCAATTTTATTTAAGACTGTAACCTGCTGCACATAGTAAAAGTATTGCATCTACTTAAGCTGCCTGCTTGGATGGCTTACAGTCTTCTATGGTTAGAGAATAAATTCTGTTAAAATTTTCCCCTCTTGGGTTTTGACAGAGCTAATCCTTCTCTCTTTTTTTGGGGGGGTTGGGGGGTGGTTCAGGCATAAGCATAACAGTTCCTTTTCCTACAGGTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAAGTAAGTGCCAGGAAGATTGGGAGGTAGGCAGAATCAAATTGATTCTACATCACTGTTGGATATAATAGGATTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTGGAGATTGTTGTGCTTCCAGAAGGGTGTAAAAAGAAAGTAATGAAGTTTTAATTGGCTTTGGGAAGAGGCACAGCTACATCTCCTATAAAGTTTAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCGAGATTGTGCCACTGCAGTCCAGCCTGGGCGACCGATAATAATAATAATAATATCAAAATAATAATATCAATATTATCAAGATAATAATGATATCAAAATAATAATAAAAATAAGTTTACATTTTGAGCAGATTGTTGAGTGTCTTCTGTGGTGGTGTTTCAGCTATGTTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCGGTCGCCCAGGTTGGAGTGCGCTGGCACGATCTTGGCTCATTGCAACCTCTGTCTCCTAGGTTGAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTAGCTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTAGTAGAGACAGGGTTTTTCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATAGGCCCACCTCAGCCCCTCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGCCCGCTGCAGCTATGTTAAAGGTGTATTCAAATTAGCCCTTCCTAAAT 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Task1_train_21927 | Consider a variant on Chromosome 15 in gene CHD2 (chromodomain helicase DNA binding protein 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATATCATTATGTAGAGATCATCCTCTTTCCTTTTACAGTTGCAGAGTATTCTACCATGTAGATAGATGTCAATTCACACTTCCCCCCTAGTATTTAATATTTGGGTTGTTTTCGGTCTTTTGTTATTATAAAGAAAGTCACAATGAATAATGATCTAATGAATATACCATTTCATATCTCTGCCAGCATATCTTTGGGATAAATTTCTAGAAGTGGGATTGCTGGGTCCTGGGAAAATGCGTATATACTTTGCTTCGATATTCCCAAATCCTTCTGCATAAGTCTGGTGCCACAATGTTTGTCACAAGCCTCACAAACAGAATATATTGTTAAACGTTTGGAGTTTTGCCAGTTTGATAGGTGAGAAACGGTATTTCATTTTTCTTTTAACGAACAAGGTTGTACATCTCTAAGGGTCACTTGCATTTTGTTCTATAAAGTGTCTATTCATGTGTGCTGCCCATTTTCTATTGAAAGGAGTTTTCCTCTCACAGGTAGCATTATCTCATGGATTTCAAGTTGGACTATTTGGTTGGGGCTTCATTTTTACTTCTGTGATCATTTTAATTTGAAATTTGGGTTAGGGTAAGTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCTCCAAGGCTGGAGCACAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCACGAGTGGCTGGGACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACTGTGTTAGCCAGTATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGCCTGGGTTAGTGTAATTTTCTTAAGCCACCACTTGTTCATCATTTCACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGGGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCCGAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAG 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TTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATATCATTATGTAGAGATCATCCTCTTTCCTTTTACAGTTGCAGAGTATTCTACCATGTAGATAGATGTCAATTCACACTTCCCCCCTAGTATTTAATATTTGGGTTGTTTTCGGTCTTTTGTTATTATAAAGAAAGTCACAATGAATAATGATCTAATGAATATACCATTTCATATCTCTGCCAGCATATCTTTGGGATAAATTTCTAGAAGTGGGATTGCTGGGTCCTGGGAAAATGCGTATATACTTTGCTTCGATATTCCCAAATCCTTCTGCATAAGTCTGGTGCCACAATGTTTGTCACAAGCCTCACAAACAGAATATATTGTTAAACGTTTGGAGTTTTGCCAGTTTGATAGGTGAGAAACGGTATTTCATTTTTCTTTTAACGAACAAGGTTGTACATCTCTAAGGGTCACTTGCATTTTGTTCTATAAAGTGTCTATTCATGTGTGCTGCCCATTTTCTATTGAAAGGAGTTTTCCTCTCACAGGTAGCATTATCTCATGGATTTCAAGTTGGACTATTTGGTTGGGGCTTCATTTTTACTTCTGTGATCATTTTAATTTGAAATTTGGGTTAGGGTAAGTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCCATCTCCAAGGCTGGAGCACAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCACGAGTGGCTGGGACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACTGTGTTAGCCAGTATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGCCTGGGTTAGTGTAATTTTCTTAAGCCACCACTTGTTCATCATTTCACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGTGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCCGAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAG 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Task1_train_21928 | Here is a mutation in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 94 | CACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGGGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCCGAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAGATAAAATGGACAGTTGTAATGCACAGTTAATTCAGAAACTAGACCTTACTTGCTGTGTGAAATACCAACTAAATTCTCAGTGAACTCAGCTGAGCTTTATCTCCTTTTGTTTCCCCAATTTATAATTTCAGTTCAGGCCCAGAAAGATGGAATCCCAGCTAAGAAATACAAGTTACACCCTGTACTAGCAGCCCATGTGTGCATGTTCTTTAAGTGCTCTTGCAGCTATGTCATTTATATTGATTTCCCTGTATTATTATAAGCAAAGCAAATTTGAGGAAAAAAACCCATAATACCACACCTCATTTTTTTCAAGTAATAGGGTCATAAGTCTCATTCTTCATATAATATGTTGAGTATGCAATATATTATGTGTTAGGCTCTGGAAAGGCAGAGGTTAGATCATGTTACAGATCATATCTGATTAGGCAGATAAACAGTATTTTAACCTTTTCCTTATTATATGTAACTTGCTTTCAGGTTTTTTAATGTTACTATTATGTCTTTAATATATTATCTTTATTTGTACTTTTGTATACAGAGTGATTTTCCTTTTTTAAAAAAAATTGTGTCTTTAGGATGGATTCCAAAGATGTGGAATCAGTAGGTTTAAGGAATATGGATATTTTGGCTGGCAAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTTTCTACTAAAGACACACAAAAAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGTAAAGAAGGAAAACAAAGTGCCCAGGCTGAAAGAGGAGCATGGAATTGAGCTTTCATC 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CACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGGGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCGGAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAGATAAAATGGACAGTTGTAATGCACAGTTAATTCAGAAACTAGACCTTACTTGCTGTGTGAAATACCAACTAAATTCTCAGTGAACTCAGCTGAGCTTTATCTCCTTTTGTTTCCCCAATTTATAATTTCAGTTCAGGCCCAGAAAGATGGAATCCCAGCTAAGAAATACAAGTTACACCCTGTACTAGCAGCCCATGTGTGCATGTTCTTTAAGTGCTCTTGCAGCTATGTCATTTATATTGATTTCCCTGTATTATTATAAGCAAAGCAAATTTGAGGAAAAAAACCCATAATACCACACCTCATTTTTTTCAAGTAATAGGGTCATAAGTCTCATTCTTCATATAATATGTTGAGTATGCAATATATTATGTGTTAGGCTCTGGAAAGGCAGAGGTTAGATCATGTTACAGATCATATCTGATTAGGCAGATAAACAGTATTTTAACCTTTTCCTTATTATATGTAACTTGCTTTCAGGTTTTTTAATGTTACTATTATGTCTTTAATATATTATCTTTATTTGTACTTTTGTATACAGAGTGATTTTCCTTTTTTAAAAAAAATTGTGTCTTTAGGATGGATTCCAAAGATGTGGAATCAGTAGGTTTAAGGAATATGGATATTTTGGCTGGCAAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTTTCTACTAAAGACACACAAAAAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGTAAAGAAGGAAAACAAAGTGCCCAGGCTGAAAGAGGAGCATGGAATTGAGCTTTCATC 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Task1_train_21929 | Chromosome 15 houses a mutation in gene CHD2 (chromodomain helicase DNA binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy 94 | ACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGGGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCCGAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAGATAAAATGGACAGTTGTAATGCACAGTTAATTCAGAAACTAGACCTTACTTGCTGTGTGAAATACCAACTAAATTCTCAGTGAACTCAGCTGAGCTTTATCTCCTTTTGTTTCCCCAATTTATAATTTCAGTTCAGGCCCAGAAAGATGGAATCCCAGCTAAGAAATACAAGTTACACCCTGTACTAGCAGCCCATGTGTGCATGTTCTTTAAGTGCTCTTGCAGCTATGTCATTTATATTGATTTCCCTGTATTATTATAAGCAAAGCAAATTTGAGGAAAAAAACCCATAATACCACACCTCATTTTTTTCAAGTAATAGGGTCATAAGTCTCATTCTTCATATAATATGTTGAGTATGCAATATATTATGTGTTAGGCTCTGGAAAGGCAGAGGTTAGATCATGTTACAGATCATATCTGATTAGGCAGATAAACAGTATTTTAACCTTTTCCTTATTATATGTAACTTGCTTTCAGGTTTTTTAATGTTACTATTATGTCTTTAATATATTATCTTTATTTGTACTTTTGTATACAGAGTGATTTTCCTTTTTTAAAAAAAATTGTGTCTTTAGGATGGATTCCAAAGATGTGGAATCAGTAGGTTTAAGGAATATGGATATTTTGGCTGGCAAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTTTCTACTAAAGACACACAAAAAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGTAAAGAAGGAAAACAAAGTGCCCAGGCTGAAAGAGGAGCATGGAATTGAGCTTTCATCT 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ACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTATAGATTATATCTTCAAAATAACAATAAGCCAGAGATATATTCAGAGAGACTAAGAGGTCAGGGTTCGTTGATACATGTTTTCTGTGGAACTTCTGCAGATTTTCATTTAACTAATGTGAAACTGGTATTTTTCAGGAAAAGGACCAGGGAAAAGGAGAGGTCCAACAATCAAGATATCCGGAGTTCAGGTTAATGTGAAATCCATTATCCAACATGAAGAGGAGTTTGAGATGCTGCATAAATCTATCCCTGTGGACCCTGAAGAAAAAAAAAAGTGAGTATATTTTGTGTACATGCTTAGATGGTCGTACCGTAAGAAAATAGATTTGAAGTTAGACTTTGTGTAGTTCCATAGTATTTTTACTGTCTCTTCTTTAACATACCAAAAAGGCCCCTCTTCTAATGTCTTCCTGTTTTTAAACTTTCTTTAGATACTGCTTAACCTGTCGTGTCAAAGCTGCACATTTTGATGTAGAGTGGGGGGTGGAAGATGATTCTCGCCTGTTGCTGGGGATTTATGAACATGGCTATGGAAACTGGGAGTTAATTAAAACAGACCCAGAGCTTAAATTAACTGACAAAGTAAGTAACCCTACCATGCTAGAGATTTCTAGAAGATTTGTTGTGTAATATTTTTATATCGATTACTTATTTCTAACTATTTTCGAGGGGGCATCAAATTAGAAATTAGTATAGTCATTCTTGGAAATACTTCCATCTTTAGCAGATTGTGGCACTGTTTCACGGATGAAGATAAAGGGAAAAGACAGTAGCCAGGTGAAATTTTGGGGAAACTGTAGGAGAAATCTTAAAATTCTGGTATTTAATTATAGGTCAGATTTCATTACAATAAATACCCAGGTGAGTTTGTTAATGATAAAAGCATTCCTTGGCCTTAGTTATTGGCCCTTTGTTTAAAAGTACATTTGAAACAACCATATTTCACTTCCTCACGTAAAGATTGAATGTCACCTTGGTATTCTTTGTAATGGAATTAAACATTGGCTGTTCTTCTCCCACAAAATCGAGCCTCCCACCCTATCTGTTGCAAGTAGCAAGGCCATGGTTGGAGCTATAAGCAGGGAAGGCTGACTGGCTCAAATTTTGGTAGGATTTGCTCCATGTTGTGCTCCTGGCAGTTCAACAGTGCTCATCCCATCTGGTTTTAGGAGGGTGACAGCACCCTGCCTTAAGCACTGAGACCAGATTCAGTCTGGCAAGAGACCCAGTTGTTGTAGCAAGGAACAGATCATGTCCTGGCGTAGCTCAGTGCTCTCCGGCAATGCTCTAAGAAGCATTTTCAATCTAAAACGAAGCTTTAACCTAGCTCCAGGGATTCCCTGCTCCTGGAAGGAGGAAATCCACGACGGCTGGGATGCTCTAGCAGATGAAGCCACAAGCCCCTCCTACCTGAGTTGTTCTACCCTGTTAACAGCACAGGTAGGAGCCATTGGGAGAGCTGGATTTCTCCATCCCATTTTGTAAAATGAGAACGGCTCGTGAGGGATTTTCAGTGACTGGGAGCCATGGACATGAGATAGGATCTGAGGCTTTATCTATATTTTGGGTGGTTGGGGAGGGAAAGGACTGTGCTCAGTTTTTGTTGTCTCTGTTTATCCTGATCCACTAACCAGGATGTGGGTGGTGGCGGGTGCTTCTCTTCCTTTCTTGTTGAAGATTCTGCCGGTGGAGACAGATAAAAAGCCTCAGGGGAAGCAGCTACAGACCCCAGCGGATTACTTGTTGAAGCTGCTCAGAAAGGGTCTGGAGAAGAAGGGGGCTGTGACAGGTGGGGAAGAGGTGAGTACGCTGCCAGCTGGTTGTTTTTCAGGGGCCTGAGGCTCCTACCCTGCAGAATTAGGTAGGAAGAGAGAGGCCCTCTCTGAGCACTGCACAGAATGTCACCTTCTCATGGGCATATTTTGTTTTTGAGGTTCCAGTAATGATGCTTTGCTTGGTAATAATAGAAATGTTCATTTAGGCCTGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTCGGGCCACTGCACTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTTAAGACCACGGCATCTTGGCAGCTTTCTTACAAACCCATCCTTCTGAAATGTTGCTTCAAATTCATCCTCTGCTCCCCAGTCCCACTATTCCACACATACTGTTACTGTTTCTTTATCCTACTTTCTCAATTTTGGAACATAGTTGCAGTTACTGCATTGAATACCTGTGGGTTTGCCTGTTGTTCTGTCTGTCTCTGTGGTTCTTGTAATAGTGGATCCCAGAGATAAAATGGACAGTTGTAATGCACAGTTAATTCAGAAACTAGACCTTACTTGCTGTGTGAAATACCAACTAAATTCTCAGTGAACTCAGCTGAGCTTTATCTCCTTTTGTTTCCCCAATTTATAATTTCAGTTCAGGCCCAGAAAGATGGAATCCCAGCTAAGAAATACAAGTTACACCCTGTACTAGCAGCCCATGTGTGCATGTTCTTTAAGTGCTCTTGCAGCTATGTCATTTATATTGATTTCCCTGTATTATTATAAGCAAAGCAAATTTGAGGAAAAAAACCCATAATACCACACCTCATTTTTTTCAAGTAATAGGGTCATAAGTCTCATTCTTCATATAATATGTTGAGTATGCAATATATTATGTGTTAGGCTCTGGAAAGGCAGAGGTTAGATCATGTTACAGATCATATCTGATTAGGCAGATAAACAGTATTTTAACCTTTTCCTTATTATATGTAACTTGCTTTCAGGTTTTTTAATGTTACTATTATGTCTTTAATATATTATCTTTATTTGTACTTTTGTATACAGAGTGATTTTCCTTTTTTAAAAAAAATTGTGTCTTTAGGATGGATTCCAAAGATGTGGAATCAGTAGGTTTAAGGAATATGGATATTTTGGCTGGCAAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTTTCTACTAAAGACACACAAAAAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGTAAAGAAGGAAAACAAAGTGCCCAGGCTGAAAGAGGAGCATGGAATTGAGCTTTCATCT 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Task1_train_21930 | This variant lies on Chromosome 15 and affects the gene CHD2 (chromodomain helicase DNA binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | CTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACTAATGCGTCAGCTCCATGAAGACAGAGATTTTATGTCTCTCATCTACTGCTGTGTTCTCAGCACATAGAATGGAATAGAATGGTGCTGGGGACAGGGAAGCACTCAGGAGTATTTGTTATGCTGTGCCCAGTGCTGTGTTGGCCTGTGAAGCAGCACCCTCAAGTAGTTGATGATTTAATTTTACATGGAAGAATATGTTATAGCAGTAACATACAGGAATCATATACTAATAAGCATTATAAAAAGTCTATAAATGGATAGTCCGGAAAGGCCCCAGGAGGGAATGAAATAGTTAGGAAAGGCCCTTTAGAAGGGAGTGAAAATTAGGAAGAGGGTCTGAAGTTGGACACATAATCATGAAAGACTTCATTCATTTAGGGATCAGAATGAATAACAAAACAGTATAAGCTGAATAACAAAAACAGTGGTATCCTACTAGTGGGAGTATACATTGTCACAACCTTTCTGGAGGAGAATTCAGCAAGATTTATTAAAAGACTAAAGCATGCAGTTTTGCTTCCAGGAATTTAGTTTTGAGAAGGAGATAGAGATTTAAACATGTTTATAATGGAAATGGCTTGGAAGCCCAACAGTAAGAAATACATTCAATGTGGCTAGGCGCGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCGAGAGTTCGAGACCAGCCTGGCCAACGTGATGAAGCCTCATCTCTACATAAACTACAAATATTAGCTGGGTGTGGTGGCACATGCCTGTAGCCCCAGCCCCTCAGGAGGCTGAAGTGGGAGGATCGCATGAGACCAGGAGGTGGAGGTAGCAGTGAGCTGAGATGGCATCACTGAATGCCTGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAGAAAACAAAAACATTCAGTAGTTCATGATATATCCATATTGGGGAGTATTAATCAGTTATTAAACATAATATTGTAGAAATAAGTATTTACATGGAAAGATTTTCACAATACATGAAGTGAAAAATGAATACCAAATATTTTTGTTTAAAATATAACTACAAAAAAAAGCTTAGAAAAATACGTGCCAAATTATTAACAGTAATTCCCTTGCTGGTTAGGATTTGGGTCACTTTATTTTTTTTATTGTGTGATTTTTTTTATATCAAACATTTGACTTGTGTGATAAGGAGTAATGTTACTCCAACATTCAGATATTTAGCTTGATGACTTGGGCATAGGAGTTAGTTCCCACTGGACAGTCGAGGGTTGTTTGTTGTGGTTAGCCTTGGAAAGTTGGTAGTCTTGGTTTTACATGGTCCAGGATGATCCTCTGAGAGTGCCGCCAGCCTGGGCGCCTACACCATACCCTGTACAGTGACATCTAGCAGTCTATGCATGTGTTCTTGCAGGTACTTAGCAGTAATGGTCAAACTCAGCATAAATTCCACTGAGTTCCCCCAGCAAATAGCCTAACAGTGGAATTTATGAGCCTTTTTTTTGTTAGGAGGTAGTAAACGCCAGTTCAGAAGTTTAAGAAGGACAAGAAGGAGCTGTTTAGAGGTGATAGCCTTTATTCTTCTCTGGGGAATTAAGCCTGGGATCTTGAGCTTCTTTGGTTTCCTTTTACTCTTTAGGAGCAAAAGAAGAAAGACGACGTGACTGGGGGTAAGAAACCATTTCGTCCAGAGGCCTCAGGCTCCAGCCGGGACTCTCTGATATCTCAGTCCCATACCTCACACAACCTTCACCCTCAGAAGCCTCATTTGCCTGCCTCCCATGGCCCACAGATGCATGGACACCCAAGAGATAACTACAATCACCCCAACAAGAGACACTTCAGTAATGCAGGTAGGTCATTAAGTGGAGTTTTTAAAAGAGGTGCCAAAAGATAAAAAATTCACACAGCCGTTTCATTTTCCAAAGACACTGGCTAGACTTCTGTGCTTTATTATCTTCTAACACTTTATTGTCCTCTCTTTTCTTAATGAGAGAAAGCATGAAATAAAGATCCCCCAATTTTTTTTTTTGTTTGTTTGAGACTGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCGTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGTGCACCACCACGCTGAGCTAATTTTTAAATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCCGGCGCCATGTGATCTGCCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCACTGCGTCTGGCCCCCAGGACTATTATTTCAACTTCCGATTAAGAAGAACCCAGCTAACATGAACAAACGAAAAAGACTGAGGGAGAAGTTTACATTCTGTATGACAGTGAAATGGTTAAAACTGCTAATCTTGAAAGAGCTCTTGTAAATTGAGAACAAAACAATAACTGAATAGAAAAATGGGCAATCAACAGAGTGAAGAGACAGTTTATGTAAGGGGAGAAAATATTACCAACCGTACATCTGATAAGGGGATAATATCCAAACTGTGTAAGGAACTCAGCTCCTTATGTAGCAGGAAGGCAAATGCTCGATTAAAAAGTGGGTAAAGGACCTGAATAGACATTTCTCAAAAGAAGACATACAGATTGCCAACAGGTATATGAAAAAATGCTCAGCATGACTGATCATCAGGGAAATGCAAATTAAAAGCACGATGAGATATCACTTCACACTTGTTAGGATGGCTAGTACCAAAAAGTCAAAAGATAAGGGTTGCCAAGGATGTGGAGGAAAGGGAACCCAGCGCATTGTTGCTGGGAATGTAAGTTAGTGCAGCCATTATGGAAAACAATGCAGAGATGCCTCAAAAAAATCACAAACAGAACTACCATATGATGCAGCAGTCCCTTTACCAGGTATATATTCAACGAAAATGAAATCAGTTATGTTGAAGAAATGCCTGCACTTACATATTCATTGCAGCATTATTTACGATAGCCAAGATACGTAATCATCCTAAGTGCCCATCAGCAGGTGAGTGGATAAAGAAAATGTGTATATACACAATCGAATAGTATTCAGCTTTAAAAAGAAGGAAATCCTGTCGTTCGCAACAACATGGTTGAATCTGGAGGGCATTTATGTTAAGTGAAATAAGTGAGGCACAGAAAGAGAAAAACTGCATATTCTCACTTACGTATGGAATCTGAAAAAGTCAAACTCATAGAAGCAGGGAGTAGAACAGTAGTTACCAGGGTCGGAGGGCAGGGGAGAATTGGGAAGATATTAACAACGGAGATAAAATTTCAGTTAGATATGAGGAATAAGTTGAGAAATCTGTTGTACAGCATGGTGACTGTAGTTAATAACAATGTATTATATAAGTGAGGTAGTGCATATGTTAATTAGGCTGATTGAGCCATTCCATAATGTATATGTATTTTAAAACATTGCATTGTAATCAATAAATACATACAATTTTTAATTGTCTATTAAAAAATTTGTACAGTCTGGGCAACATAGACTCAGTCTCTACAAAAGTGTGAAAATTAGCTAGGCGTAGTGGCGTAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTTAGGCCTGGGAGGTGGAGGTTGCGGTGAGCCAGGATTGCACCACTGCGCTCCAGTCTGGGCAATAGAGTGAGACCGTCTCAAAAAAAAAAAAAAATTGCAGTTTTGAAACAAAACTCAAAGGAATCCAGATTGAATTAAAATTTTGGAAATTTGATTAGAAAAAAACTCTGTGGAGCTTA 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CTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACTAATGCGTCAGCTCCATGAAGACAGAGATTTTATGTCTCTCATCTACTGCTGTGTTCTCAGCACATAGAATGGAATAGAATGGTGCTGGGGACAGGGAAGCACTCAGGAGTATTTGTTATGCTGTGCCCAGTGCTGTGTTGGCCTGTGAAGCAGCACCCTCAAGTAGTTGATGATTTAATTTTACATGGAAGAATATGTTATAGCAGTAACATACAGGAATCATATACTAATAAGCATTATAAAAAGTCTATAAATGGATAGTCCGGAAAGGCCCCAGGAGGGAATGAAATAGTTAGGAAAGGCCCTTTAGAAGGGAGTGAAAATTAGGAAGAGGGTCTGAAGTTGGACACATAATCATGAAAGACTTCATTCATTTAGGGATCAGAATGAATAACAAAACAGTATAAGCTGAATAACAAAAACAGTGGTATCCTACTAGTGGGAGTATACATTGTCACAACCTTTCTGGAGGAGAATTCAGCAAGATTTATTAAAAGACTAAAGCATGCAGTTTTGCTTCCAGGAATTTAGTTTTGAGAAGGAGATAGAGATTTAAACATGTTTATAATGGAAATGGCTTGGAAGCCCAACAGTAAGAAATACATTCAATGTGGCTAGGCGCGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCGAGAGTTCGAGACCAGCCTGGCCAACGTGATGAAGCCTCATCTCTACATAAACTACAAATATTAGCTGGGTGTGGTGGCACATGCCTGTAGCCCCAGCCCCTCAGGAGGCTGAAGTGGGAGGATCGCATGAGACCAGGAGGTGGAGGTAGCAGTGAGCTGAGATGGCATCACTGAATGCCTGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAGAAAACAAAAACATTCAGTAGTTCATGATATATCCATATTGGGGAGTATTAATCAGTTATTAAACATAATATTGTAGAAATAAGTATTTACATGGAAAGATTTTCACAATACATGAAGTGAAAAATGAATACCAAATATTTTTGTTTAAAATATAACTACAAAAAAAAGCTTAGAAAAATACGTGCCAAATTATTAACAGTAATTCCCTTGCTGGTTAGGATTTGGGTCACTTTATTTTTTTTATTGTGTGATTTTTTTTATATCAAACATTTGACTTGTGTGATAAGGAGTAATGTTACTCCAACATTCAGATATTTAGCTTGATGACTTGGGCATAGGAGTTAGTTCCCACTGGACAGTCGAGGGTTGTTTGTTGTGGTTAGCCTTGGAAAGTTGGTAGTCTTGGTTTTACATGGTCCAGGATGATCCTCTGAGAGTGCCGCCAGCCTGGGCGCCTACACCATACCCTGTACAGTGACATCTAGCAGTCTATGCATGTGTTCTTGCAGGTACTTAGCAGTAATGGTCAAACTCAGCATAAATTCCACTGAGTTCCCCCAGCAAATAGCCTAACAGTGGAATTTATGAGCCTTTTTTTTGTTAGGAGGTAGTAAACGCCAGTTCAGAAGTTTAAGAAGGACAAGAAGGAGCTGTTTAGAGGTGATAGCCTTTATTCTTCTCTGGGGAATTAAGCCTGGGATCTTGAGCTTCTTTGGTTTCCTTTTACTCTTTAGGAGCAAAAGAAGAAAGACGACGTGACTGGGGGTAAGAAACCATTTCGTCCAGAGGCCTCAGGCTCCAGCCGGGACTCTCTGATATCTCAGTCCCATACCTCACACAACCTTCACCCTCAGAAGCCTCATTTGCCTGTCTCCCATGGCCCACAGATGCATGGACACCCAAGAGATAACTACAATCACCCCAACAAGAGACACTTCAGTAATGCAGGTAGGTCATTAAGTGGAGTTTTTAAAAGAGGTGCCAAAAGATAAAAAATTCACACAGCCGTTTCATTTTCCAAAGACACTGGCTAGACTTCTGTGCTTTATTATCTTCTAACACTTTATTGTCCTCTCTTTTCTTAATGAGAGAAAGCATGAAATAAAGATCCCCCAATTTTTTTTTTTGTTTGTTTGAGACTGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCGTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGTGCACCACCACGCTGAGCTAATTTTTAAATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCCGGCGCCATGTGATCTGCCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGTGTGAACCACTGCGTCTGGCCCCCAGGACTATTATTTCAACTTCCGATTAAGAAGAACCCAGCTAACATGAACAAACGAAAAAGACTGAGGGAGAAGTTTACATTCTGTATGACAGTGAAATGGTTAAAACTGCTAATCTTGAAAGAGCTCTTGTAAATTGAGAACAAAACAATAACTGAATAGAAAAATGGGCAATCAACAGAGTGAAGAGACAGTTTATGTAAGGGGAGAAAATATTACCAACCGTACATCTGATAAGGGGATAATATCCAAACTGTGTAAGGAACTCAGCTCCTTATGTAGCAGGAAGGCAAATGCTCGATTAAAAAGTGGGTAAAGGACCTGAATAGACATTTCTCAAAAGAAGACATACAGATTGCCAACAGGTATATGAAAAAATGCTCAGCATGACTGATCATCAGGGAAATGCAAATTAAAAGCACGATGAGATATCACTTCACACTTGTTAGGATGGCTAGTACCAAAAAGTCAAAAGATAAGGGTTGCCAAGGATGTGGAGGAAAGGGAACCCAGCGCATTGTTGCTGGGAATGTAAGTTAGTGCAGCCATTATGGAAAACAATGCAGAGATGCCTCAAAAAAATCACAAACAGAACTACCATATGATGCAGCAGTCCCTTTACCAGGTATATATTCAACGAAAATGAAATCAGTTATGTTGAAGAAATGCCTGCACTTACATATTCATTGCAGCATTATTTACGATAGCCAAGATACGTAATCATCCTAAGTGCCCATCAGCAGGTGAGTGGATAAAGAAAATGTGTATATACACAATCGAATAGTATTCAGCTTTAAAAAGAAGGAAATCCTGTCGTTCGCAACAACATGGTTGAATCTGGAGGGCATTTATGTTAAGTGAAATAAGTGAGGCACAGAAAGAGAAAAACTGCATATTCTCACTTACGTATGGAATCTGAAAAAGTCAAACTCATAGAAGCAGGGAGTAGAACAGTAGTTACCAGGGTCGGAGGGCAGGGGAGAATTGGGAAGATATTAACAACGGAGATAAAATTTCAGTTAGATATGAGGAATAAGTTGAGAAATCTGTTGTACAGCATGGTGACTGTAGTTAATAACAATGTATTATATAAGTGAGGTAGTGCATATGTTAATTAGGCTGATTGAGCCATTCCATAATGTATATGTATTTTAAAACATTGCATTGTAATCAATAAATACATACAATTTTTAATTGTCTATTAAAAAATTTGTACAGTCTGGGCAACATAGACTCAGTCTCTACAAAAGTGTGAAAATTAGCTAGGCGTAGTGGCGTAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTTAGGCCTGGGAGGTGGAGGTTGCGGTGAGCCAGGATTGCACCACTGCGCTCCAGTCTGGGCAATAGAGTGAGACCGTCTCAAAAAAAAAAAAAAATTGCAGTTTTGAAACAAAACTCAAAGGAATCCAGATTGAATTAAAATTTTGGAAATTTGATTAGAAAAAAACTCTGTGGAGCTTA 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Task1_train_21931 | Mutation context: Chromosome 15, Gene NR2F2 (nuclear receptor subfamily 2 group F member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital heart defects, multiple types, 4 | CCGCCGCCCGGCGCCCCGCACACGCCACAGACGCCCGGCCAAGGGGGCCCAGCCAGCACGCCAGCCCAGACGGCGGCCGGTGGCCAGGGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCAACACATCGAGTGCGTGGTGTGCGGAGACAAGTCGAGCGGCAAGCACTACGGCCAGTTCACGTGCGAGGGCTGCAAGAGCTTCTTCAAGCGCAGCGTGCGGAGGAACCTGAGCTACACGTGCCGCGCCAACCGGAACTGTCCCATCGACCAGCACCATCGCAACCAGTGCCAGTACTGCCGCCTCAAAAAGTGCCTCAAAGTGGGCATGAGACGGGAAGGTATCGGCCTCTCATTTCTCCTTCCCTCGTCCTGGGTCCCGGGGTCCTGGGTACGTTTGGCTAGCCTGCTCTGGGTAAGGACAAGAAGCCCCAAGCTCTTCTCTTCGTATTGCAGCGGAAAAGGGTTTTATACTAGAAGCGAGTTCTGCATTGGAACCCAGACCCCAAATCCGCATGCTTTGGCCGACTGATTTCCTTCTTTACTCTCTCTTTGGGCTGTTTCCATTTCCTTTGCATTGATTGTGAGTTCACTGGAGTCTGCCTTTCTGCAAGGGATGGGGTGTTTGTTGTTGTTGTTTTAAAGCCTAGTTTACTTCTCTCTCTCTGCCCTTGTTTTTCCTGCATGTTCAACATGTCCCTCCCCCTCACCCCTTTCCCCAGCCCCCACCCTCTCAAAAAAAAAAAAAAAAAAACCTGAGATTGTACTTTTGTACAGGAGGTTCAAATTACAAATGGCAATTTTATGCACTTCGCCGTATTAACGCTGCCGCCCGGGCAGCGCTCATGTGACCCTCCGTGGATTAACATCCTGCTAAAAAAAAAAATACCTCTGCTTTCTTTTTTCCTTTCACTTTTTGAAACGAAGAGAGCGCGATAGGAAGTAGGAAAGGGTGGGCGAGGGGCCCTGGGCGGCTGCTTTCGCTCTGCGCGAGTTGGGTCTTTGTGATATAAAATTCGCCGAGCGCCGCGAGCCGTGCTTTGCCAATGGCGCGCTCGGCGCGGGGCGCGGGCTCCGGGTTGGGGCGAGCCAACGCCGGGGTTTCTTTGTGTTTCTGCGAGAGCGACTCTCCCGGTCCGGAGTCAGATAACAGCCTGGGCCCGAGCCTCGCCGGCTTTCCCCGGCCCTTACAGGCCCTGCCCAGGCTCCGCTAGTGCCGGCCGCCTGCTCCCTGCCTCTCCCGGCTTCCTCTCTCTTTAGCCGGCCTCTCTCTCTCCGCCCTCTCCCTCCGTCTCTTTCTCCGAGCACACTGATTAGACAGACGCCAGACCTCCGCTCTCTGCTTGTCTCTCACTGGGGGGGTTCCCCGCCGGGCTGGGGCTGGGGCTTCGGGGTTTGTGGGAGAGTCGTTCCGGAGTGGCCACAGGCCGTCTGGGGTGGACCCTCGTGCCTTTTGCAAAAGCGCCTCACCCTCCCCCCAGACTCGCCCCTCCCGCTCCCTCTCCTCCAATCAATAAGAAATATCAGCTGTTTAGCAGTAAAGAAGAAAGATGCCCTCAGAATGCTACATCCCGCCCACAGCGCCGGGGACCCCGAGGCAAGGTGGCCAATTCTGGGTCCTCGGCGGACCAGCCCCGAGCGGGCCTCGGAGGCAAGTGTGCCCCTCTGGCCCTCAGAGCTCGCCTGGGTGGTGGTTTGAAAGGAATGGTGCCAAGAGCCTGGCGACTCCAGCTCTGTGGCAGGCCTGCCTGGTTCTTGCGCTGCTCAGGGCCTGGGTCAGGTGGGGGTCGGGCTGGGGCAGACCCCGCCGGGGAACCTGGGGACTGAGGCTGGTCATTAACTGTGGAGTGTCTCCTTTCCTCCCCGCAGCGGTGCAGAGGGGCAGGATGCCGCCGACCCAGCCGACCCACGGGCAGTTCGCGCTGACCAACGGGGATCCCCTCAACTGCCACTCGTACCTGTCCGGATATATTTCCCTGCTGTTGCGCGCGGAGCCCTATCCCACGTCGCGCTTCGGCAGCCAATGCATGCAGCCCAACAACATCATGGGTATCGAGAACATTTGCGAACTGGCCGCGAGGATGCTCTTCAGCGCCGTCGAGTGGGCCCGGAACATCCCCTTCTTCCCCGACCTGCAGATCACGGACCAGGTGGCCCTGCTTCGCCTCACCTGGAGCGAGCTGTTTGTGTTGAATGCGGCGCAGTGCTCCATGCCCCTCCACGTCGCCCCGCTCCTGGCCGCCGCCGGCCTGCATGCTTCGCCCATGTCCGCCGACCGGGTGGTCGCCTTTATGGACCACATACGGATCTTCCAAGAGCAAGTGGAGAAGCTCAAGGCGCTGCACGTTGACTCAGCCGAGTACAGCTGCCTCAAGGCCATAGTCCTGTTCACCTCAGGTAGGAAGGAGCCCTGTCTTCTCGTGCCCACGGGCTCCTAGCCCAGAGCTGGGGCCCAGAGAACTTGGGAGTCCCCAGGGCAAACCCAGTCTGCTCCTTGAAAGGCCAAACTGTTGAGTGCAACTTAAAGTGGGAACTTTTTATAGCTGCTGGGCACTACCAGGCCTGTCCTGGGGAGAGGAGAGGAAGGCTGGATTGCAGGAAGGATGCTTCAGATAGATTCCCCACATGGGCCATAGGGCAGCCTCTGCTGCCTGTTTCCCCCACCTGCAGTATCCAGATTGGGATGCCCTCTCCTGCTCCCTTTCCTGAGCCCAGGCCCCCCGGGCCTGCTGGGCCCCAGGGAATCTCCTCAAGCCCTCGGTTTTCTCTAGCGCCCTGGCTGGGCCTCCAGGAGATGCCCTGGGCAGTGGAGCAGCCCTGACATTGTCTCTGCAGGGAAAAGTTTGCCTGCTAACTCAATAGGAGTTGGAGCTCCAGGCAAATCCAACCTGAGGGCAGCAATTTTCAAAATCATATTCTTACTGGAATAATGCAGACTGCCAGGAGAGGCGAAAAGATGTGTCAGGATGGGGCAACAGGAGGAAAGGGACCGTCATAACTCTTCAGAATGTCTGCAGGAGGTTGAAGACTCTGGCCTCTTGCTTCCCCTGCCCAAGCAAACACTTAAGGCAATTTTCAAACAACCCAAAGTGTATGCCAACTTGGGCTGGATATGGATGTTGCTAGAGATATAAAACCATCATTGACTGCATTATGCAATCTAATTAGTTTGCATGTAGTTTAACCTGTGTGAGTAATAGAGCTGATACTAATTAACTTGAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCTTCCTTATTGTTCGAAAGAAGTCTGGGGAACTAAGTCATTAGCTGAACAGCTTGCAGCTTCTTAGTCCTCAAACTGCTGTCTTGTACATTGCTGCTTTCCACATAAAACCTCCCAGCACAGCCACCCCAAATTCTGCCTTTGGAAGTCCTTAGGTAATCAATTAAAGGCCAGTGTCTGGGCAGGGAAGCTGTTTGCAGAGGTTTGGATAGGGATTATTTTTCTCGAGTGCCCCTCATACCTAGAACGTTTGCCTGCTGCAGATATACAGACAAGATATCTCCCTACCTCATAGCCACCTTCACCCCTGTCCCACAACCCAACACCCAGCCCACCTTCTTGGACGATGGAGGTAGTCGTTAATTTCTTGGTATCATTGCTAGCTCTTAGCCTTACCCTTGGTCTTTCAAGGAAAAAAAAATGCCTGATACTGTCGTTAACAGTTTAATTTATGACTATTTGCAAAATGTGGAGGCCTGTGTGGAGAATGCAAATCGCCTCACAAAGAGATAAAGGTTCCTGTTATCTGATTCAGAGGGAGACACACAGTTC 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CCGCCGCCCGGCGCCCCGCACACGCCACAGACGCCCGGCCAAGGGGGCCCAGCCAGCACGCCAGCCCAGACGGCGGCCGGTGGCCAGGGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCAACACATCGAGTGCGTGGTGTGCGGAGACAAGTCGAGCGGCAAGCACTACGGCCAGTTCACGTGCGAGGGCTGCAAGAGCTTCTTCAAGCGCAGCGTGCGGAGGAACCTGAGCTACACGTGCCGCGCCAACCGGAACTGTCCCATCGACCAGCACCATCGCAACCAGTGCCAGTACTGCCGCCTCAAAAAGTGCCTCAAAGTGGGCATGAGACGGGAAGGTATCGGCCTCTCATTTCTCCTTCCCTCGTCCTGGGTCCCGGGGTCCTGGGTACGTTTGGCTAGCCTGCTCTGGGTAAGGACAAGAAGCCCCAAGCTCTTCTCTTCGTATTGCAGCGGAAAAGGGTTTTATACTAGAAGCGAGTTCTGCATTGGAACCCAGACCCCAAATCCGCATGCTTTGGCCGACTGATTTCCTTCTTTACTCTCTCTTTGGGCTGTTTCCATTTCCTTTGCATTGATTGTGAGTTCACTGGAGTCTGCCTTTCTGCAAGGGATGGGGTGTTTGTTGTTGTTGTTTTAAAGCCTAGTTTACTTCTCTCTCTCTGCCCTTGTTTTTCCTGCATGTTCAACATGTCCCTCCCCCTCACCCCTTTCCCCAGCCCCCACCCTCTCAAAAAAAAAAAAAAAAAAACCTGAGATTGTACTTTTGTACAGGAGGTTCAAATTACAAATGGCAATTTTATGCACTTCGCCGTATTAACGCTGCCGCCCGGGCAGCGCTCATGTGACCCTCCGTGGATTAACATCCTGCTAAAAAAAAAAATACCTCTGCTTTCTTTTTTCCTTTCACTTTTTGAAACGAAGAGAGCGCGATAGGAAGTAGGAAAGGGTGGGCGAGGGGCCCTGGGCGGCTGCTTTCGCTCTGCGCGAGTTGGGTCTTTGTGATATAAAATTCGCCGAGCGCCGCGAGCCGTGCTTTGCCAATGGCGCGCTCGGCGCGGGGCGCGGGCTCCGGGTTGGGGCGAGCCAACGCCGGGGTTTCTTTGTGTTTCTGCGAGAGCGACTCTCCCGGTCCGGAGTCAGATAACAGCCTGGGCCCGAGCCTCGCCGGCTTTCCCCGGCCCTTACAGGCCCTGCCCAGGCTCCGCTAGTGCCGGCCGCCTGCTCCCTGCCTCTCCCGGCTTCCTCTCTCTTTAGCCGGCCTCTCTCTCTCCGCCCTCTCCCTCCGTCTCTTTCTCCGAGCACACTGATTAGACAGACGCCAGACCTCCGCTCTCTGCTTGTCTCTCACTGGGGGGGTTCCCCGCCGGGCTGGGGCTGGGGCTTCGGGGTTTGTGGGAGAGTCGTTCCGGAGTGGCCACAGGCCGTCTGGGGTGGACCCTCGTGCCTTTTGCAAAAGCGCCTCACCCTCCCCCCAGACTCGCCCCTCCCGCTCCCTCTCCTCCAATCAATAAGAAATATCAGCTGTTTAGCAGTAAAGAAGAAAGATGCCCTCAGAATGCTACATCCCGCCCACAGCGCCGGGGACCCCGAGGCAAGGTGGCCAATTCTGGGTCCTCGGCGGACCAGCCCCGAGCGGGCCTCGGAGGCAAGTGTGCCCCTCTGGCCCTCAGAGCTCGCCTGGGTGGTGGTTTGAAAGGAATGGTGCCAAGAGCCTGGCGACTCCAGCTCTGTGGCAGGCCTGCCTGGTTCTTGCGCTGCTCAGGGCCTGGGTCAGGTGGGGGTCGGGCTGGGGCAGACCCCGCCGGGGAACCTGGGGACTGAGGCTGGTCATTAACTGTGGAGTGTCTCCTTTCCTCCCCGCAGCGGTGCAGAGGGGCAGGATGCCGCCGACCCAGCCGACCCACGGGCAGTTCGCGCTGACCAACGGGGATCCCCTCAACTGCCACTCGTACCTGTCCGGATATATTTCCCTGCTGTTGCGCGCGGAGCCCTATCCCACGTCGCGCTTCGGCAGCCAATGCATGCAGCCCAACATCATCATGGGTATCGAGAACATTTGCGAACTGGCCGCGAGGATGCTCTTCAGCGCCGTCGAGTGGGCCCGGAACATCCCCTTCTTCCCCGACCTGCAGATCACGGACCAGGTGGCCCTGCTTCGCCTCACCTGGAGCGAGCTGTTTGTGTTGAATGCGGCGCAGTGCTCCATGCCCCTCCACGTCGCCCCGCTCCTGGCCGCCGCCGGCCTGCATGCTTCGCCCATGTCCGCCGACCGGGTGGTCGCCTTTATGGACCACATACGGATCTTCCAAGAGCAAGTGGAGAAGCTCAAGGCGCTGCACGTTGACTCAGCCGAGTACAGCTGCCTCAAGGCCATAGTCCTGTTCACCTCAGGTAGGAAGGAGCCCTGTCTTCTCGTGCCCACGGGCTCCTAGCCCAGAGCTGGGGCCCAGAGAACTTGGGAGTCCCCAGGGCAAACCCAGTCTGCTCCTTGAAAGGCCAAACTGTTGAGTGCAACTTAAAGTGGGAACTTTTTATAGCTGCTGGGCACTACCAGGCCTGTCCTGGGGAGAGGAGAGGAAGGCTGGATTGCAGGAAGGATGCTTCAGATAGATTCCCCACATGGGCCATAGGGCAGCCTCTGCTGCCTGTTTCCCCCACCTGCAGTATCCAGATTGGGATGCCCTCTCCTGCTCCCTTTCCTGAGCCCAGGCCCCCCGGGCCTGCTGGGCCCCAGGGAATCTCCTCAAGCCCTCGGTTTTCTCTAGCGCCCTGGCTGGGCCTCCAGGAGATGCCCTGGGCAGTGGAGCAGCCCTGACATTGTCTCTGCAGGGAAAAGTTTGCCTGCTAACTCAATAGGAGTTGGAGCTCCAGGCAAATCCAACCTGAGGGCAGCAATTTTCAAAATCATATTCTTACTGGAATAATGCAGACTGCCAGGAGAGGCGAAAAGATGTGTCAGGATGGGGCAACAGGAGGAAAGGGACCGTCATAACTCTTCAGAATGTCTGCAGGAGGTTGAAGACTCTGGCCTCTTGCTTCCCCTGCCCAAGCAAACACTTAAGGCAATTTTCAAACAACCCAAAGTGTATGCCAACTTGGGCTGGATATGGATGTTGCTAGAGATATAAAACCATCATTGACTGCATTATGCAATCTAATTAGTTTGCATGTAGTTTAACCTGTGTGAGTAATAGAGCTGATACTAATTAACTTGAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCTTCCTTATTGTTCGAAAGAAGTCTGGGGAACTAAGTCATTAGCTGAACAGCTTGCAGCTTCTTAGTCCTCAAACTGCTGTCTTGTACATTGCTGCTTTCCACATAAAACCTCCCAGCACAGCCACCCCAAATTCTGCCTTTGGAAGTCCTTAGGTAATCAATTAAAGGCCAGTGTCTGGGCAGGGAAGCTGTTTGCAGAGGTTTGGATAGGGATTATTTTTCTCGAGTGCCCCTCATACCTAGAACGTTTGCCTGCTGCAGATATACAGACAAGATATCTCCCTACCTCATAGCCACCTTCACCCCTGTCCCACAACCCAACACCCAGCCCACCTTCTTGGACGATGGAGGTAGTCGTTAATTTCTTGGTATCATTGCTAGCTCTTAGCCTTACCCTTGGTCTTTCAAGGAAAAAAAAATGCCTGATACTGTCGTTAACAGTTTAATTTATGACTATTTGCAAAATGTGGAGGCCTGTGTGGAGAATGCAAATCGCCTCACAAAGAGATAAAGGTTCCTGTTATCTGATTCAGAGGGAGACACACAGTTC 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Task1_train_21932 | Here is a variant affecting NR2F2 (nuclear receptor subfamily 2 group F member 2) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | GAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCTTCCTTATTGTTCGAAAGAAGTCTGGGGAACTAAGTCATTAGCTGAACAGCTTGCAGCTTCTTAGTCCTCAAACTGCTGTCTTGTACATTGCTGCTTTCCACATAAAACCTCCCAGCACAGCCACCCCAAATTCTGCCTTTGGAAGTCCTTAGGTAATCAATTAAAGGCCAGTGTCTGGGCAGGGAAGCTGTTTGCAGAGGTTTGGATAGGGATTATTTTTCTCGAGTGCCCCTCATACCTAGAACGTTTGCCTGCTGCAGATATACAGACAAGATATCTCCCTACCTCATAGCCACCTTCACCCCTGTCCCACAACCCAACACCCAGCCCACCTTCTTGGACGATGGAGGTAGTCGTTAATTTCTTGGTATCATTGCTAGCTCTTAGCCTTACCCTTGGTCTTTCAAGGAAAAAAAAATGCCTGATACTGTCGTTAACAGTTTAATTTATGACTATTTGCAAAATGTGGAGGCCTGTGTGGAGAATGCAAATCGCCTCACAAAGAGATAAAGGTTCCTGTTATCTGATTCAGAGGGAGACACACAGTTCCGAGGATGCCGAGGGAAGGAGTCCTGTGCAAACAGATCTTTTAGTTCCTGTCCACAGACACCTCTACATTCTGTAGACATGCAGAGTCCTAGATATACATATGAGGAGGTTGCATGTGTGTTCTGGTTCTTGGGGTGGAGGTGGTGGTGGAGATTTTCGAATATCTGTTTTAATGACTCACAATATGCATATGTTAACCCCAGTCTTGTATGGGGAGCCCTGAAAGGTCAGGTCACAACCTGAACCGCCTTTACCAAGAAGCTTCTCATTTCAAAGGCACTTACTGTATTTTCACGTATCAAAAAAGAAAAGTGTTTTCCTGAAGATAACAGGGAGGGGGGATGCTTCTCGGAGGGACCTGGGTTTTAAAAAATAAAGGGGGGTAGGAGAAAAAGGGAGAGAGAAGAAAAAGGGGGAAAAGAAACAGCTCAAATGAACAGAGAGATCACGGTTTGCATGGCTGCCCTTCAATAGGCTAAACTGACAAGATCAGTTTTAAAGGGCCACTTAAATCAGTTTCAAAGACTGGAGAAAAATGAGTCGCCCTCTTTGGGGGGAATCTGAGGCTGGATCGTGGACGCCATTACTCGGGACTGGGCCAGGTTGTCCACCCCCAACCCCCAACCCCTATATAATTATAAGCCAAACTATTATTTACAGAGGAGGAGGGGAGAGAGTGCTGGTAGTTTTGGTTTCTTCTGTTTACTGACTTGGGCCAGACAGACCCAATGCACTTTTGCTTGGGCCTCTCAATGACCCAGGCTAAGGACTCGGGCAGTGAAAGCCTGTAGCACACTGAGCTATGTTTTATTTTAAAGCAAACACTTCCTCAGGACCATCTCTTGCTCTTTCTTCCCCCACCCCGCCTCCCCCCCTTAAGTTTTCAGTACATAGACATTTGCTCCAACTCCGGTTGGGGCAGTTTGACAGAGCTCTGTGCACACACCTCATGTGACCCAATTCAAACCTCTTAATCTGATGACTGAATTCTTCTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTCTGTTTTTAAACTTTCTTCCAGATGCCTGTGGTCTCTCTGATGTAGCCCATGTGGAAAGCTTGCAGGAAAAGTCTCAGTGTGCTTTGGAAGAATACGTTAGGAGCCAGTACCCCAACCAGCCGACGAGATTCGGAAAGCTTTTGCTTCGCCTCCCTTCCCTCCGCACCGTCTCCTCCTCAGTCATAGAGCAATTGTTTTTCGTCCGTTTGGTAGGTAAAACCCCCATCGAAACCCTCATCCGGGATATGTTACTGTCCGGCAGCAGTTTTAACTGGCCGTATATGGCAATTCAATAAATAAATAAAATAAGAAGGGGGAGTGAAACAGAGAAAGAAAAGGCAAAAGACTGGTTTGTTTGCTTAATTTCCTTCTGTTAAGAAAGGATATAAAAGGATGTTACAAGTTTGCTAAAAGAAGAGAGGGGAAGAATTTAATGGACTGTGAATTTCAAAAAAAAAAAAAAAGACTGTCAAATGAACTTTTACAGAATGCATTAAAAAAAAAAAAAAACTCCTGTGTCGGTCAGAACAACTTGCTACTTATCATTTTTGTATAAAAAGGAAATTAGTCTTTTTCTTTTTTTGGTAAATTTTTGAAAAATATTGCTAAAAGTGCATTTAAGGAGATTGGGAGACAATTAGCAGAATGGAGAAAGTAAGTCTTTTTTTTTTCCAAATTATTAATTGTCCTGTGTCTATGTACCTCTAGCTGTTCTTTTTTGTACTTTTCTGGTTCCAAACCAGTTTATTCTGTGGTTCTATAATAAGTTTTGATATAATCTTGGCTTCTTAAAAACTGTGTATCATTAAAATATATGTTCTGCAAGAATTAAAACTGAGTCCATGAAAATACCATAGGAAGACATAAAACTTTAAAAGGCAACTCAAAGATGATGGAAACGCACTTACAAGTGGTGACCAAAATTTTTAGGTGAAGTCGAGCACTCTAATTAGAGAACTGGAGGAACCACATATAACACTTAACTTCCCCTACCCTGCCCCTCCCCAAAAGAAACCATGACAAACCTAGCTTTTAAAAAATATTTTAAGAAAGAGAATGAACTGTGGAATTTATTGGCAGCCAAGGAATGTGTCCAAGACACATGCTGAGGTTTTGAATAAAAAGTGAACTTTTGTAATTTGAATTGGGTCCCGCTTAGTTCTTGAATTGTTATGAAAATCCTATATCTGTTTGTATATTTGCAAACCCTTTGTATTATAATTGTTGATATTTTCCCTTTTTAAAAAATACCATTGAAATCAGCATGACAAAAATAACACTGTTGGCACTTATAGGTAACGTGATTGATTCAGTATCTTAGAGTTTACAGTTTGTGTTTTAAAAAAACTGAAGGTTTTTTTTTTAAGTGCAACATTTCTGTATACTGTAAAAGTTATAATAACTGAACTGTTTGGTCGAGTCTTTGTGTGTTATATTCCAAGGAAAATTGAAAGTATTCAGAAATTAAAATATTATTTGATATCTGAAACCTGGCTGTCCCCACTCACTGTCTTTACATCTAGAAGAGCCCCTGTGAGCTCTCGCTTAGCTGGCCGGGCGGGGGGTGGTGGGGGGGGGCATTTGTTTACTCCCCTCAGTCAGTTTGTTCAAAGGTGGACTACTGTATTTGCCTGTTTAATTTGGGTGTGTGTGTGTTGGGGGGGGAGCTGAAGTTAATGGTTTATCTATGGTTTAGGAAGTGCCATACTGATATAGTAAACCACCCCCATTCACCTAATCCTCCTTTTAATTAAAAATGGATTTTCCAGGAAAAAAAAAAAGGCCCTTATATTTGTCACACTTAAGTGCCTGCTTAGGGAAGGTATTGTGAAAAAGTATTAGAAATCTTGAGATCAGTATCTATTTTATGATCAGAAAAAAATACTCTTTTGTACATTTCTGACAGTTACTCAGAAGATCGTTCAAGCAAGCTAATCACAGCATTGTAACTAGAGGACAGTTGTTTGCAGTGAGTTTTTCCTTAAGTAGGTACGATTTTTTAAAATATTCTGTGATTCTACTCTAGCGTGGTTGTTGAGAGAGTTTCAAATTCAGTGATACAGGTTCTAAGACTGAAAGGTCTACTTTTAATGTATATATGATAACTTGCAGTTGGTTTCCCTCTCCCCTCCCCCCCTTTACCTTCAGTCTGTGAGAGCATGACCACAGGGTCAAGGGAATCTTTTCCATTGGAG 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GAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCTTCCTTATTGTTCGAAAGAAGTCTGGGGAACTAAGTCATTAGCTGAACAGCTTGCAGCTTCTTAGTCCTCAAACTGCTGTCTTGTACATTGCTGCTTTCCACATAAAACCTCCCAGCACAGCCACCCCAAATTCTGCCTTTGGAAGTCCTTAGGTAATCAATTAAAGGCCAGTGTCTGGGCAGGGAAGCTGTTTGCAGAGGTTTGGATAGGGATTATTTTTCTCGAGTGCCCCTCATACCTAGAACGTTTGCCTGCTGCAGATATACAGACAAGATATCTCCCTACCTCATAGCCACCTTCACCCCTGTCCCACAACCCAACACCCAGCCCACCTTCTTGGACGATGGAGGTAGTCGTTAATTTCTTGGTATCATTGCTAGCTCTTAGCCTTACCCTTGGTCTTTCAAGGAAAAAAAAATGCCTGATACTGTCGTTAACAGTTTAATTTATGACTATTTGCAAAATGTGGAGGCCTGTGTGGAGAATGCAAATCGCCTCACAAAGAGATAAAGGTTCCTGTTATCTGATTCAGAGGGAGACACACAGTTCCGAGGATGCCGAGGGAAGGAGTCCTGTGCAAACAGATCTTTTAGTTCCTGTCCACAGACACCTCTACATTCTGTAGACATGCAGAGTCCTAGATATACATATGAGGAGGTTGCATGTGTGTTCTGGTTCTTGGGGTGGAGGTGGTGGTGGAGATTTTCGAATATCTGTTTTAATGACTCACAATATGCATATGTTAACCCCAGTCTTGTATGGGGAGCCCTGAAAGGTCAGGTCACAACCTGAACCGCCTTTACCAAGAAGCTTCTCATTTCAAAGGCACTTACTGTATTTTCACGTATCAAAAAAGAAAAGTGTTTTCCTGAAGATAACAGGGAGGGGGGATGCTTCTCGGAGGGACCTGGGTTTTAAAAAATAAAGGGGGGTAGGAGAAAAAGGGAGAGAGAAGAAAAAGGGGGAAAAGAAACAGCTCAAATGAACAGAGAGATCACGGTTTGCATGGCTGCCCTTCAATAGGCTAAACTGACAAGATCAGTTTTAAAGGGCCACTTAAATCAGTTTCAAAGACTGGAGAAAAATGAGTCGCCCTCTTTGGGGGGAATCTGAGGCTGGATCGTGGACGCCATTACTCGGGACTGGGCCAGGTTGTCCACCCCCAACCCCCAACCCCTATATAATTATAAGCCAAACTATTATTTACAGAGGAGGAGGGGAGAGAGTGCTGGTAGTTTTGGTTTCTTCTGTTTACTGACTTGGGCCAGACAGACCCAATGCACTTTTGCTTGGGCCTCTCAATGACCCAGGCTAAGGACTCGGGCAGTGAAAGCCTGTAGCACACTGAGCTATGTTTTATTTTAAAGCAAACACTTCCTCAGGACCATCTCTTGCTCTTTCTTCCCCCACCCCGCCTCCCCCCCTTAAGTTTTCAGTACATAGACATTTGCTCCAACTCCGGTTGGGGCAGTTTGACAGAGCTCTGTGCACACACCTCATGTGACCCAATTCAAACCTCTTAATCTGATGACTGAATTCTTCTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTCTGTTTTTAAACTTTCTTCCAGATGCCTGTGGTCTCTCTGATGTAGCCCATGTGGAAAGCTTGCAGGAAAAGTCTCAGTGTGCTTTGGAAGAATACGTTAGGAGCCAGTACCCCAACCAGCCGACGAGATTCGGAAAGCTTTTGCTTCCCCTCCCTTCCCTCCGCACCGTCTCCTCCTCAGTCATAGAGCAATTGTTTTTCGTCCGTTTGGTAGGTAAAACCCCCATCGAAACCCTCATCCGGGATATGTTACTGTCCGGCAGCAGTTTTAACTGGCCGTATATGGCAATTCAATAAATAAATAAAATAAGAAGGGGGAGTGAAACAGAGAAAGAAAAGGCAAAAGACTGGTTTGTTTGCTTAATTTCCTTCTGTTAAGAAAGGATATAAAAGGATGTTACAAGTTTGCTAAAAGAAGAGAGGGGAAGAATTTAATGGACTGTGAATTTCAAAAAAAAAAAAAAAGACTGTCAAATGAACTTTTACAGAATGCATTAAAAAAAAAAAAAAACTCCTGTGTCGGTCAGAACAACTTGCTACTTATCATTTTTGTATAAAAAGGAAATTAGTCTTTTTCTTTTTTTGGTAAATTTTTGAAAAATATTGCTAAAAGTGCATTTAAGGAGATTGGGAGACAATTAGCAGAATGGAGAAAGTAAGTCTTTTTTTTTTCCAAATTATTAATTGTCCTGTGTCTATGTACCTCTAGCTGTTCTTTTTTGTACTTTTCTGGTTCCAAACCAGTTTATTCTGTGGTTCTATAATAAGTTTTGATATAATCTTGGCTTCTTAAAAACTGTGTATCATTAAAATATATGTTCTGCAAGAATTAAAACTGAGTCCATGAAAATACCATAGGAAGACATAAAACTTTAAAAGGCAACTCAAAGATGATGGAAACGCACTTACAAGTGGTGACCAAAATTTTTAGGTGAAGTCGAGCACTCTAATTAGAGAACTGGAGGAACCACATATAACACTTAACTTCCCCTACCCTGCCCCTCCCCAAAAGAAACCATGACAAACCTAGCTTTTAAAAAATATTTTAAGAAAGAGAATGAACTGTGGAATTTATTGGCAGCCAAGGAATGTGTCCAAGACACATGCTGAGGTTTTGAATAAAAAGTGAACTTTTGTAATTTGAATTGGGTCCCGCTTAGTTCTTGAATTGTTATGAAAATCCTATATCTGTTTGTATATTTGCAAACCCTTTGTATTATAATTGTTGATATTTTCCCTTTTTAAAAAATACCATTGAAATCAGCATGACAAAAATAACACTGTTGGCACTTATAGGTAACGTGATTGATTCAGTATCTTAGAGTTTACAGTTTGTGTTTTAAAAAAACTGAAGGTTTTTTTTTTAAGTGCAACATTTCTGTATACTGTAAAAGTTATAATAACTGAACTGTTTGGTCGAGTCTTTGTGTGTTATATTCCAAGGAAAATTGAAAGTATTCAGAAATTAAAATATTATTTGATATCTGAAACCTGGCTGTCCCCACTCACTGTCTTTACATCTAGAAGAGCCCCTGTGAGCTCTCGCTTAGCTGGCCGGGCGGGGGGTGGTGGGGGGGGGCATTTGTTTACTCCCCTCAGTCAGTTTGTTCAAAGGTGGACTACTGTATTTGCCTGTTTAATTTGGGTGTGTGTGTGTTGGGGGGGGAGCTGAAGTTAATGGTTTATCTATGGTTTAGGAAGTGCCATACTGATATAGTAAACCACCCCCATTCACCTAATCCTCCTTTTAATTAAAAATGGATTTTCCAGGAAAAAAAAAAAGGCCCTTATATTTGTCACACTTAAGTGCCTGCTTAGGGAAGGTATTGTGAAAAAGTATTAGAAATCTTGAGATCAGTATCTATTTTATGATCAGAAAAAAATACTCTTTTGTACATTTCTGACAGTTACTCAGAAGATCGTTCAAGCAAGCTAATCACAGCATTGTAACTAGAGGACAGTTGTTTGCAGTGAGTTTTTCCTTAAGTAGGTACGATTTTTTAAAATATTCTGTGATTCTACTCTAGCGTGGTTGTTGAGAGAGTTTCAAATTCAGTGATACAGGTTCTAAGACTGAAAGGTCTACTTTTAATGTATATATGATAACTTGCAGTTGGTTTCCCTCTCCCCTCCCCCCCTTTACCTTCAGTCTGTGAGAGCATGACCACAGGGTCAAGGGAATCTTTTCCATTGGAG 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Task1_train_21933 | This is a variant in IGF1R (insulin like growth factor 1 receptor), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | CCACAAAGTGCAAGATCAAGGCGCTGGCAGATTTGGTGTCTGGTGAGGGCCCACTCCCTGGCTCATAGATGGCTGTCTTTTCATTGTGTCCTTGCATGGTGGCAGGGATGCGGGAGCACTCTCCGGGGCCTCTCATAGAAGGGCCTGGATTCCATTCATGAGGGCTTCACTCCCATGACCCAATCACCTCCCAAAGGCCATGCCTCCTAATTCCATCCCCTTAGGGGTTAGGATTTTGACATGTGAGTTTTGGTAGGGGACACAGGCATTCACTCTATAGCACTGATAAACATTCTTTGATAATAGCCATTATTTTAGTGGGTAAGGTGTTTTTAAATACCCATAAGCGAGCACAAAATCAGTTTAAATGGCAGAGAGGAGGGTGAGAAGAAAATGCTGGTGGGGAAAACCTTTTGCTGTGCACGCCTGCTCCTTCCTCCACTCCTACCCCATCTCCATGACCCTGTAAGTGGCCACAGTCATGTCACTGGGTAAAGTGCTTATTGAAACAAAATTGGCACAGGCTTCTGATCCTGCGTGTGGGTTGGTGTAGCAGAGGTTCAGTGCAACAGAAGAAGTTTTTCATCTTAAAATTTGGAAGTAACCCCTGGCCAGCAATTCACTGTAGTGTTTGGGAAACATAGGAATATCTGCTTATTGTGACAGATTCTCAAGAAACCTGTTTCCTTTCCACAAAGATGGAAACCAGGCACTGTACCAATGAGTCAGTTCACTACGTTTTGTCCTCTGTCCTTACACGCAGCGGAGACAGACGAGAACTTGGTCCTCTGCCTCTGCTGTTTGGTGACACCTATCGTAAGAATGTATCTAGGAATGAGCTGTTTGTTTTTGAAGTACTTATTTTTGGAAACCCTAAAGTGGCTGAGCATCAAGTGGTTGTGTTTTCTCTGAAAACGCCAGTATTAGTCATAACCTTTTTCCAAAGTATCATCCCTTAAAGATGTTCAGAACCTTGTGTGTATCGTATAACCTGGAGCACCCTCAAGCTGTCCGCCCTTTTCAAGTTTTAAAAATGGCTTAGGCAAACATATTGCTTAAGTGATATCCAGTGAAGGTGTCTCCTGTGCTTTGAAAAACCATCAACATTGATGCTTTTTTGTGACCCAATAAGGACAAGATTTCAGTGGTTCTGGGATGCATTTGATCTTTATGCACACTTCAGCTCTGGGTTTCAGTTCAGGGGTCAGCATAAGTAAAGCTTGATCAGATAACTATGCTTTGCCTATAATCGGCATTCATTCTGCTGGTGACAGAGTCCTTTGCTCAAAATGAGGCTTCCATGCGTTTGCAGTTCTAAACTGCTTTTCAGAGTCATGCCTCAGTCATTGTACTGAAGGATGCCTGTGGAAATGGTGGACTTCCGTGTTCTTTGCATTGCCTCTCCCCCATCCCTCTTACACACAGCTGTGACATGGGCATGCACACTCCTTCACACACACAGACTCTCCAGGCCCCTTTCCACTTCCTCTTTCCATTTGGCTTCATGACATTTTTATCAGAGATTCAAAATCTCAGATGAAATCCAAGTCAGCCTGTTTTACCAGTTGTCGAAATTGCCGGAGTGCAGCACTGTGGAGAATGGCAGTTGTAATAAATGAGAAATACCAGGTGTTTGAATTAGCTGTAGATTTTCACATTGTCTCTTCTAACCCTGCTTGTGCCCCCGCAGCCTTTTTCCATTTACAACTCAGTAATGTTTGTTTTCACAGAGATTACCGGAGGAAATAGATTATAAAGGGAAATGTTGGCATTTATAGTAGTACTATTTCAAAATAAGGTTCACTTTTCACTTTGTATTTCATTGTTCATTGTTATTTTCTTATCCAGGTCAAACTGGCAGTTTCCTGTTGGCTTGCCAGAGTATCTGATAGCCTGACTCTTAAGTTCATTTCATTTTCTAGAATGTTCTTTGTTCCCCTCTCCAGTTCCTTCCATTCCCTTGGACGTTCTTTCAGCATCGAACTCCTCTTCTCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGCCCAACGGCAACCTGAGTTACTACATTGTGCGCTGGCAGCGGCAGCCTCAGGACGGCTACCTTTACCGGCACAATTACTGCTCCAAAGGTAAGGGTGCAGCAGCGGCCTGGACGGAGGGTGTGACCGTTCATTCCTGTGGTTGTAATGTGCCTGAGCCCTAATATTACACGTATCAGACAACAGTGTAGTTCTCCATTGGAAACCAGCTATCTTCTGGTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCATGGCTCACTGCAATTTCTGCCTCCCAGGTTCAAGCATTTCTCATTCCCCAGCATTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTGAAACTCCTAACCTCAGGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCCTTGAGCCACCACATCTGGCCGAGACCAGCTATCTTCTTGATTAAAGGTACTGAGAGCTATTATTTTTCCTTACAAGCATGTATAACGGCTTTCATTCCCACTCTTGTTTTGGCTTTTCTTTTCCGAGAAGACAAAATCCCCATCAGGAAGTATGCCGACGGCACCATCGACATTGAGGAGGTCACAGAGAACCCCAAGACTGAGGTGTGTGGTGGGGAGAAAGGGCCTTGCTGCGCCTGCCCCAAAACTGAAGCCGAGAAGCAGGCCGAGAAGGAGGAGGCTGAATACCGCAAAGTCTTTGAGAATTTCCTGCACAACTCCATCTTCGTGCCCAGGTACCCAGCTCATGTGAAATTTCAGTTGGCAAAACCCACTGCTCAGGCCGGTTCTGTTGCCTTTCTCCCCACCAGGTAGTGTGTAAGTCAGCAGCTGGGGGGTACAATACAGTAGCCACTGAGACGGAGCCGAAAAAGATGACAGGTTCGGTGAAGTGAGTCCCTGCGGAAGCCAGTCAGCCCTGAAGGGAACAGGGACCAGGGCTTGGGTTGCTGGGGCCACCGGTGTGACAGGTACTGCTGTCTCAGCCACAACCCCCCACAGAGAGCAGGTGGGCACCCTGTGGTAGAGGCAGGGAGGGGAAACTCAAAGAGTATTGACAGCTGCTGCCTGGTGAGAGGAAAGGCCAGGATTTGGGTCCATCTCTGCCCTTCCTAATTATCTTTACTGCCTCTCTCAGCCTCACAGAGGAGGAGTGAAGCAAGAGGGAAAAAAGTCAGAGTCTGTGCTGGAAAGGGCCTGACTTCAAAACATAGCCAGGTGCCACAGGCATCCTGTACAAGTAAGTTTGGGAAGCAGTGTAGGGCGACAGCCTGCATTGGCTGTTTATTCCGTGGTTACTCTGTCTTTCAAAGCAACACAGCCCCTGCCCCAGGGACTCTGCTCCTCTGCTGTGGTCTTGGTTTCTGGGGAGTGGGGACAAAAGCAGAGGAAAGTAAACGTTCATAGCAGGACTGTTCATAGTAGCCAAATCTGGAAACCCAGTGTACATCAACAGGTGAGTGGCTCAATAAAATGGGCTCGAACCTTACAGTAGAATATTATTCAGCCATAAAAAGGGAGGAAATTTTGATCCATGTCACAACACAGATGAACCTTGAAGACACCATGCCAAGTGAAACAAGGCCAGACACAAAAGGACAGATAGTGTATGATTTTATGTTGTGTGAAATATATGGAATGGGCAAATGTATGGTGACAGAAAGTAGATTTGAATTTACCAGGGGATGGGGATAGAGTGTGGAGGGGAATGGGAATTATTCCATAATCGATAGGTTTTCTATTTGGAGTGATGAAAATTTTTGGAAATAGATAATGATGATAGCTGTACCATTCTGTGAATGCAATTAATGCCACTGAATTGTACCCTTAAAATGATTAAAATGGCAACTTTTTATCTTACATATATTTTGTTTTGTTTTAAAATTTTATTTTAACACAATAAAAAATGTTAAACAATTTTTTTTTCCTTTCAAAAAAGGATTAGCCCAGTAGTGTGTGGGAAAGGAGATGGAA 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CCACAAAGTGCAAGATCAAGGCGCTGGCAGATTTGGTGTCTGGTGAGGGCCCACTCCCTGGCTCATAGATGGCTGTCTTTTCATTGTGTCCTTGCATGGTGGCAGGGATGCGGGAGCACTCTCCGGGGCCTCTCATAGAAGGGCCTGGATTCCATTCATGAGGGCTTCACTCCCATGACCCAATCACCTCCCAAAGGCCATGCCTCCTAATTCCATCCCCTTAGGGGTTAGGATTTTGACATGTGAGTTTTGGTAGGGGACACAGGCATTCACTCTATAGCACTGATAAACATTCTTTGATAATAGCCATTATTTTAGTGGGTAAGGTGTTTTTAAATACCCATAAGCGAGCACAAAATCAGTTTAAATGGCAGAGAGGAGGGTGAGAAGAAAATGCTGGTGGGGAAAACCTTTTGCTGTGCACGCCTGCTCCTTCCTCCACTCCTACCCCATCTCCATGACCCTGTAAGTGGCCACAGTCATGTCACTGGGTAAAGTGCTTATTGAAACAAAATTGGCACAGGCTTCTGATCCTGCGTGTGGGTTGGTGTAGCAGAGGTTCAGTGCAACAGAAGAAGTTTTTCATCTTAAAATTTGGAAGTAACCCCTGGCCAGCAATTCACTGTAGTGTTTGGGAAACATAGGAATATCTGCTTATTGTGACAGATTCTCAAGAAACCTGTTTCCTTTCCACAAAGATGGAAACCAGGCACTGTACCAATGAGTCAGTTCACTACGTTTTGTCCTCTGTCCTTACACGCAGCGGAGACAGACGAGAACTTGGTCCTCTGCCTCTGCTGTTTGGTGACACCTATCGTAAGAATGTATCTAGGAATGAGCTGTTTGTTTTTGAAGTACTTATTTTTGGAAACCCTAAAGTGGCTGAGCATCAAGTGGTTGTGTTTTCTCTGAAAACGCCAGTATTAGTCATAACCTTTTTCCAAAGTATCATCCCTTAAAGATGTTCAGAACCTTGTGTGTATCGTATAACCTGGAGCACCCTCAAGCTGTCCGCCCTTTTCAAGTTTTAAAAATGGCTTAGGCAAACATATTGCTTAAGTGATATCCAGTGAAGGTGTCTCCTGTGCTTTGAAAAACCATCAACATTGATGCTTTTTTGTGACCCAATAAGGACAAGATTTCAGTGGTTCTGGGATGCATTTGATCTTTATGCACACTTCAGCTCTGGGTTTCAGTTCAGGGGTCAGCATAAGTAAAGCTTGATCAGATAACTATGCTTTGCCTATAATCGGCATTCATTCTGCTGGTGACAGAGTCCTTTGCTCAAAATGAGGCTTCCATGCGTTTGCAGTTCTAAACTGCTTTTCAGAGTCATGCCTCAGTCATTGTACTGAAGGATGCCTGTGGAAATGGTGGACTTCCGTGTTCTTTGCATTGCCTCTCCCCCATCCCTCTTACACACAGCTGTGACATGGGCATGCACACTCCTTCACACACACAGACTCTCCAGGCCCCTTTCCACTTCCTCTTTCCATTTGGCTTCATGACATTTTTATCAGAGATTCAAAATCTCAGATGAAATCCAAGTCAGCCTGTTTTACCAGTTGTCGAAATTGCCGGAGTGCAGCACTGTGGAGAATGGCAGTTGTAATAAATGAGAAATACCAGGTGTTTGAATTAGCTGTAGATTTTCACATTGTCTCTTCTAACCCTGCTTGTGCCCCCGCAGCCTTTTTCCATTTACAACTCAGTAATGTTTGTTTTCACAGAGATTACCGGAGGAAATAGATTATAAAGGGAAATGTTGGCATTTATAGTAGTACTATTTCAAAATAAGGTTCACTTTTCACTTTGTATTTCATTGTTCATTGTTATTTTCTTATCCAGGTCAAACTGGCAGTTTCCTGTTGGCTTGCCAGAGTATCTGATAGCCTGACTCTTAAGTTCATTTCATTTTCTAGAATGTTCTTTGTTCCCCTCTCCAGTTCCTTCCATTCCCTTGGACGTTCTTTCAGCATCGAACTCCTCTTCTCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGCCCAACGGCAACCTGAGTTACTGCATTGTGCGCTGGCAGCGGCAGCCTCAGGACGGCTACCTTTACCGGCACAATTACTGCTCCAAAGGTAAGGGTGCAGCAGCGGCCTGGACGGAGGGTGTGACCGTTCATTCCTGTGGTTGTAATGTGCCTGAGCCCTAATATTACACGTATCAGACAACAGTGTAGTTCTCCATTGGAAACCAGCTATCTTCTGGTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCATGGCTCACTGCAATTTCTGCCTCCCAGGTTCAAGCATTTCTCATTCCCCAGCATTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTGAAACTCCTAACCTCAGGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCCTTGAGCCACCACATCTGGCCGAGACCAGCTATCTTCTTGATTAAAGGTACTGAGAGCTATTATTTTTCCTTACAAGCATGTATAACGGCTTTCATTCCCACTCTTGTTTTGGCTTTTCTTTTCCGAGAAGACAAAATCCCCATCAGGAAGTATGCCGACGGCACCATCGACATTGAGGAGGTCACAGAGAACCCCAAGACTGAGGTGTGTGGTGGGGAGAAAGGGCCTTGCTGCGCCTGCCCCAAAACTGAAGCCGAGAAGCAGGCCGAGAAGGAGGAGGCTGAATACCGCAAAGTCTTTGAGAATTTCCTGCACAACTCCATCTTCGTGCCCAGGTACCCAGCTCATGTGAAATTTCAGTTGGCAAAACCCACTGCTCAGGCCGGTTCTGTTGCCTTTCTCCCCACCAGGTAGTGTGTAAGTCAGCAGCTGGGGGGTACAATACAGTAGCCACTGAGACGGAGCCGAAAAAGATGACAGGTTCGGTGAAGTGAGTCCCTGCGGAAGCCAGTCAGCCCTGAAGGGAACAGGGACCAGGGCTTGGGTTGCTGGGGCCACCGGTGTGACAGGTACTGCTGTCTCAGCCACAACCCCCCACAGAGAGCAGGTGGGCACCCTGTGGTAGAGGCAGGGAGGGGAAACTCAAAGAGTATTGACAGCTGCTGCCTGGTGAGAGGAAAGGCCAGGATTTGGGTCCATCTCTGCCCTTCCTAATTATCTTTACTGCCTCTCTCAGCCTCACAGAGGAGGAGTGAAGCAAGAGGGAAAAAAGTCAGAGTCTGTGCTGGAAAGGGCCTGACTTCAAAACATAGCCAGGTGCCACAGGCATCCTGTACAAGTAAGTTTGGGAAGCAGTGTAGGGCGACAGCCTGCATTGGCTGTTTATTCCGTGGTTACTCTGTCTTTCAAAGCAACACAGCCCCTGCCCCAGGGACTCTGCTCCTCTGCTGTGGTCTTGGTTTCTGGGGAGTGGGGACAAAAGCAGAGGAAAGTAAACGTTCATAGCAGGACTGTTCATAGTAGCCAAATCTGGAAACCCAGTGTACATCAACAGGTGAGTGGCTCAATAAAATGGGCTCGAACCTTACAGTAGAATATTATTCAGCCATAAAAAGGGAGGAAATTTTGATCCATGTCACAACACAGATGAACCTTGAAGACACCATGCCAAGTGAAACAAGGCCAGACACAAAAGGACAGATAGTGTATGATTTTATGTTGTGTGAAATATATGGAATGGGCAAATGTATGGTGACAGAAAGTAGATTTGAATTTACCAGGGGATGGGGATAGAGTGTGGAGGGGAATGGGAATTATTCCATAATCGATAGGTTTTCTATTTGGAGTGATGAAAATTTTTGGAAATAGATAATGATGATAGCTGTACCATTCTGTGAATGCAATTAATGCCACTGAATTGTACCCTTAAAATGATTAAAATGGCAACTTTTTATCTTACATATATTTTGTTTTGTTTTAAAATTTTATTTTAACACAATAAAAAATGTTAAACAATTTTTTTTTCCTTTCAAAAAAGGATTAGCCCAGTAGTGTGTGGGAAAGGAGATGGAA 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Task1_train_21934 | A mutation found in MEF2A (myocyte enhancer factor 2A) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Coronary artery disease/myocardial infarction | GTACAGACTACAAGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCTGCTGCACTCCAGCCTGGGCAACAGGGCAAGTCTCCGTCTGAAAAGTAAATAAATAAATAAATAAAAATAAAATGCTTCCTCAGGCACAGTTTAGGGAATGTGAGAGCCTCCTGATAATCATGGAAGAGTTGTTTTACCCGGGTTCTGATTGGTCATTACCACATCCAGTCACTGTGGTGAGCGAGAATGACCTGAGTCAAATGCCTATCACTAAGTTCATCTGGGGGCTGGAGGGAGGGTTGCAGAGAGTCAGCCCCACCCAGTCCACGTGGTTGCTATACATGGGAAGAAGTAGAATGACTGACTACAGTATTCATGAAAACAGGATGGTTTCATACGTATTTTATATCTCAACTAGTACCCAAAAGTATTATATACATAGAGCATATATCACAATGTGCATTTTTCCTCATTTCATTAAGGGAGATGGAAGGTTCTGTTAGGGAAAGTTTAGGAATAAGATGATTAAAGTGAGATAAATCAGAAATATTTAATAAGGACCTCAGTGAAGCTGAAGAAACAGACTCAGTAGAAGTAGAGCCATAAGGAAGAAGTACGTGGTGAAAACGGGGCATTAGAAATGAGTGCTGAATAAGCTGCAGTTAAGAAGCTGCTCTGATACCTAGTTCACTACTCAGAACTTAGTGGTAGCAGTGCCTTTGCTCTCACAAGAGTGAATGAATAGGCTGGTCTCAGACATTTTTCTATAATACCTCCATTATTTTAGTCCCCAGTATGAGATGCCCTCTTAGAAATGTGGTCTTTTGCTTGTTTGTTTCTTTGAGACACAGTTTCACTCTGTCACCCACGCTGTAGTGCAGGGGCATGATCTCAGCTCACGGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCGGGCGCCACCACATCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTCAACATGTTGGCCAAGCTGGTCTCAAACACCTGACCTCAAGTGATTCACCCTCCTCGGCATACCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGAAATGTGTTGTGTGTTAAATCTCTTTCAGCAGGTCCAAGGAGTAATGCTGTACAAGTATCATTAGTCTTAAGCTTTATATGTATTTCAGACTTTGCTTGTCTTCCTTTGCTTATTTTTAAGATATCCCAAGGTACTTCATTAGTTACCACAGGTTGAGTATCCCAAATACAAAATGCTCTAAAATCTGAAACATTTTGAGCACTGACGTGATTCTCAGAAGTGTCAATTGGAGGATTTTGGATTTTCAGGTTTAGGGATGCTCAGCCAATAAGTATACAAGTATTCCAAAATCAGAAACACTTCTGGTCCCAAGCATTTCGGACAAGGGATACTCAAACCTGTAGTGAGTTTTGTTATAAAATTTATTTGCAACTCAGACTGGGGAAAACTTGATTTGTTTGTGCCAAAGTATTTTAATAACTCTTCTCACTTTATTGAATGATATTTTTCCCCCCAGGGAATGGATTTGTAAACTCAAGAGCTTCTCCAAATTTGATTGGAGCTACTGGTGCAAATAGCTTAGGCAAAGTCATGCCTACAAAGTCTCCCCCTCCACCAGGTGGTGGTAATCTTGGAATGAACAGTAGGAAACCAGATCTTCGAGTTGTCATCCCCCCTTCAAGCAAGGGCATGATGCCTCCACTAGTAAGTTGAACCTTTCTTCAACTTCATTCTTTAAAACACATATTTTATACATAGTCAATCTGTAGCTTCCTTTGGAATTTTCTGTGCCACCGTAGAATCTACACCTATTCCTAATAAATATTTCCATTCAAAATTAGTATTTGAAGAGACAAGTCTATTTCAAATACACAAAAATCAGATTATGGAAATTTGCTTAACAGTTACTTAAAATTAAAGCTAAATACGAACGTGGTTGGAACTGGAGGTTATTGTGTTAAGTGAAATAAGCCAGGCATAGAAAGATAGATACTGCAAGGTCTCACTCATGTGGGACCTAAAAAAATTGGTCTTGTGGAGATAGAGAATAGAATGATAGCAGAGGCTGGGAAGGGTGTGTGGGTGGGAGACGGGATGAAGAGCGGTTGATTCGTGGGTAAAAACATACACTTAGATACAATAAATATACCCCTGTATTTGATAGGAGAGAAGGGTGACTATAGTTAGCAACATTGCAGATGGAGTATATTTCAGAGTAGCTAGAAAAGAGGACTTGAAATGTTCCCAACAAATAGAAAGGATAAATACTCAAGGTAATAGATGCCCCAAACACCCTGACCTGGATCATTACGCATTCTATGAATGTAACAAATATTCACATGTACCCCATTAATATGTAACACCTTTCGAATCAGGTTTTTTTTTTTTTTTTTGAGTCGTTTTAAGGAGTGAAATTTAGTAGCCAAGAAAGAAGGAAGGAAGGAAGGAGAAAACAGCTCCCTCCAACAGAGACAGAGGGAGGGGGGATTCAAACAAAGAGGAAACCCCTCGAATGAGTTTTTAAAAAGTAAAATACAGAGAGATTATTATGTTTAATTTTAATTTTACCAGGCTAGAAGCATTAACCATGACTTATTTATTCTCTGTACTTTGTATACTTTCATTAATCAATTAAACATGCTTTTCTGTGAGAGAAGCACTAAACTATTTGTTAGAAAATTCTACATACCAGGCAGGGTACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAGGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAATTCTGCATACCACAGAACTATTGTAGGATAGGGAAGAAAGCACACAAACTTGAGTGAGTTATTCTCCAATTAATTTTATTTGCTTATTCCTTCTCAAATAACCTATTTAACTGTATAAAGAATGCAGGTAGCCTCTATTCCACTCCTTGATGACGGCTTTAGGGTTCTAGTCTCATTTGTTTTTGAGTCTTAAGTCTGTTTGTAAAGAACAGGAGAATCTATTTATCGCCCTTAGCTTCCTGTAGAAAAAAAACTAGAATATATAATCAAGTTTTAAAACTTCTTAGTTTAGCAACTGTTTGACTACTACCATACTAAATGATATGCCAGGTGTTCTCTCTGCTGAGCAGTTGCTAAACTCACCATTAGAGTTTTTGCTAAGTGAAAGTGATGCTGTCAGGCTTAGATAATAATTCCACTTTGGTATAATGCTTTATAGATTCCATAGCACCTTCATGTGTATATTGTCTCATTTAATTCTCAATTAGCCTGTGTCATTGCAAGGTAGAGATGTGGAAACTGAGTTAAAGGTTATTACTTGTCCAAGATAGTTCAAAATAGAGCTAGGACCAAATCTCTAAGTCTTACAGTCCAGGTCAAAAAACAAGTACTTTTTTATCTGGTTATACAGAAATCTGGAAACAGTCACTCCCAGCCTCACAATTAAAAAAACTTGGATATACAGAAAGTTCATAGTTTTCCTTGAACTCATTATAGTGCTGAGATTTCA 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GTACAGACTACAAGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCTGCTGCACTCCAGCCTGGGCAACAGGGCAAGTCTCCGTCTGAAAAGTAAATAAATAAATAAATAAAAATAAAATGCTTCCTCAGGCACAGTTTAGGGAATGTGAGAGCCTCCTGATAATCATGGAAGAGTTGTTTTACCCGGGTTCTGATTGGTCATTACCACATCCAGTCACTGTGGTGAGCGAGAATGACCTGAGTCAAATGCCTATCACTAAGTTCATCTGGGGGCTGGAGGGAGGGTTGCAGAGAGTCAGCCCCACCCAGTCCACGTGGTTGCTATACATGGGAAGAAGTAGAATGACTGACTACAGTATTCATGAAAACAGGATGGTTTCATACGTATTTTATATCTCAACTAGTACCCAAAAGTATTATATACATAGAGCATATATCACAATGTGCATTTTTCCTCATTTCATTAAGGGAGATGGAAGGTTCTGTTAGGGAAAGTTTAGGAATAAGATGATTAAAGTGAGATAAATCAGAAATATTTAATAAGGACCTCAGTGAAGCTGAAGAAACAGACTCAGTAGAAGTAGAGCCATAAGGAAGAAGTACGTGGTGAAAACGGGGCATTAGAAATGAGTGCTGAATAAGCTGCAGTTAAGAAGCTGCTCTGATACCTAGTTCACTACTCAGAACTTAGTGGTAGCAGTGCCTTTGCTCTCACAAGAGTGAATGAATAGGCTGGTCTCAGACATTTTTCTATAATACCTCCATTATTTTAGTCCCCAGTATGAGATGCCCTCTTAGAAATGTGGTCTTTTGCTTGTTTGTTTCTTTGAGACACAGTTTCACTCTGTCACCCACGCTGTAGTGCAGGGGCATGATCTCAGCTCACGGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCGGGCGCCACCACATCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTCAACATGTTGGCCAAGCTGGTCTCAAACACCTGACCTCAAGTGATTCACCCTCCTCGGCATACCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGAAATGTGTTGTGTGTTAAATCTCTTTCAGCAGGTCCAAGGAGTAATGCTGTACAAGTATCATTAGTCTTAAGCTTTATATGTATTTCAGACTTTGCTTGTCTTCCTTTGCTTATTTTTAAGATATCCCAAGGTACTTCATTAGTTACCACAGGTTGAGTATCCCAAATACAAAATGCTCTAAAATCTGAAACATTTTGAGCACTGACGTGATTCTCAGAAGTGTCAATTGGAGGATTTTGGATTTTCAGGTTTAGGGATGCTCAGCCAATAAGTATACAAGTATTCCAAAATCAGAAACACTTCTGGTCCCAAGCATTTCGGACAAGGGATACTCAAACCTGTAGTGAGTTTTGTTATAAAATTTATTTGCAACTCAGACTGGGGAAAACTTGATTTGTTTGTGCCAAAGTATTTTAATAACTCTTCTCACTTTATTGAATGATATTTTTCCCCCCAGGGAATGGATTTGTAAACTCAAGAGCTTCTCCAAATTTGATTGGAGCTACTGGTGCAAATAGCTTAGGCAAAGTCATGCCTACAAAGTCTCCCCCTCCACCAGGTGGTGGTAATCTTGGAATGAACAGTAGGAAACCAGATCTTCGAGTTGTCATCCCCCTTTCAAGCAAGGGCATGATGCCTCCACTAGTAAGTTGAACCTTTCTTCAACTTCATTCTTTAAAACACATATTTTATACATAGTCAATCTGTAGCTTCCTTTGGAATTTTCTGTGCCACCGTAGAATCTACACCTATTCCTAATAAATATTTCCATTCAAAATTAGTATTTGAAGAGACAAGTCTATTTCAAATACACAAAAATCAGATTATGGAAATTTGCTTAACAGTTACTTAAAATTAAAGCTAAATACGAACGTGGTTGGAACTGGAGGTTATTGTGTTAAGTGAAATAAGCCAGGCATAGAAAGATAGATACTGCAAGGTCTCACTCATGTGGGACCTAAAAAAATTGGTCTTGTGGAGATAGAGAATAGAATGATAGCAGAGGCTGGGAAGGGTGTGTGGGTGGGAGACGGGATGAAGAGCGGTTGATTCGTGGGTAAAAACATACACTTAGATACAATAAATATACCCCTGTATTTGATAGGAGAGAAGGGTGACTATAGTTAGCAACATTGCAGATGGAGTATATTTCAGAGTAGCTAGAAAAGAGGACTTGAAATGTTCCCAACAAATAGAAAGGATAAATACTCAAGGTAATAGATGCCCCAAACACCCTGACCTGGATCATTACGCATTCTATGAATGTAACAAATATTCACATGTACCCCATTAATATGTAACACCTTTCGAATCAGGTTTTTTTTTTTTTTTTTGAGTCGTTTTAAGGAGTGAAATTTAGTAGCCAAGAAAGAAGGAAGGAAGGAAGGAGAAAACAGCTCCCTCCAACAGAGACAGAGGGAGGGGGGATTCAAACAAAGAGGAAACCCCTCGAATGAGTTTTTAAAAAGTAAAATACAGAGAGATTATTATGTTTAATTTTAATTTTACCAGGCTAGAAGCATTAACCATGACTTATTTATTCTCTGTACTTTGTATACTTTCATTAATCAATTAAACATGCTTTTCTGTGAGAGAAGCACTAAACTATTTGTTAGAAAATTCTACATACCAGGCAGGGTACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAGGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAATTCTGCATACCACAGAACTATTGTAGGATAGGGAAGAAAGCACACAAACTTGAGTGAGTTATTCTCCAATTAATTTTATTTGCTTATTCCTTCTCAAATAACCTATTTAACTGTATAAAGAATGCAGGTAGCCTCTATTCCACTCCTTGATGACGGCTTTAGGGTTCTAGTCTCATTTGTTTTTGAGTCTTAAGTCTGTTTGTAAAGAACAGGAGAATCTATTTATCGCCCTTAGCTTCCTGTAGAAAAAAAACTAGAATATATAATCAAGTTTTAAAACTTCTTAGTTTAGCAACTGTTTGACTACTACCATACTAAATGATATGCCAGGTGTTCTCTCTGCTGAGCAGTTGCTAAACTCACCATTAGAGTTTTTGCTAAGTGAAAGTGATGCTGTCAGGCTTAGATAATAATTCCACTTTGGTATAATGCTTTATAGATTCCATAGCACCTTCATGTGTATATTGTCTCATTTAATTCTCAATTAGCCTGTGTCATTGCAAGGTAGAGATGTGGAAACTGAGTTAAAGGTTATTACTTGTCCAAGATAGTTCAAAATAGAGCTAGGACCAAATCTCTAAGTCTTACAGTCCAGGTCAAAAAACAAGTACTTTTTTATCTGGTTATACAGAAATCTGGAAACAGTCACTCCCAGCCTCACAATTAAAAAAACTTGGATATACAGAAAGTTCATAGTTTTCCTTGAACTCATTATAGTGCTGAGATTTCA 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Task1_train_21935 | Consider a variant on Chromosome 15 in gene MEF2A (myocyte enhancer factor 2A). Determine its clinical classification and disease relevance. | Pathogenic; Coronary artery disease/myocardial infarction | AGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCTGCTGCACTCCAGCCTGGGCAACAGGGCAAGTCTCCGTCTGAAAAGTAAATAAATAAATAAATAAAAATAAAATGCTTCCTCAGGCACAGTTTAGGGAATGTGAGAGCCTCCTGATAATCATGGAAGAGTTGTTTTACCCGGGTTCTGATTGGTCATTACCACATCCAGTCACTGTGGTGAGCGAGAATGACCTGAGTCAAATGCCTATCACTAAGTTCATCTGGGGGCTGGAGGGAGGGTTGCAGAGAGTCAGCCCCACCCAGTCCACGTGGTTGCTATACATGGGAAGAAGTAGAATGACTGACTACAGTATTCATGAAAACAGGATGGTTTCATACGTATTTTATATCTCAACTAGTACCCAAAAGTATTATATACATAGAGCATATATCACAATGTGCATTTTTCCTCATTTCATTAAGGGAGATGGAAGGTTCTGTTAGGGAAAGTTTAGGAATAAGATGATTAAAGTGAGATAAATCAGAAATATTTAATAAGGACCTCAGTGAAGCTGAAGAAACAGACTCAGTAGAAGTAGAGCCATAAGGAAGAAGTACGTGGTGAAAACGGGGCATTAGAAATGAGTGCTGAATAAGCTGCAGTTAAGAAGCTGCTCTGATACCTAGTTCACTACTCAGAACTTAGTGGTAGCAGTGCCTTTGCTCTCACAAGAGTGAATGAATAGGCTGGTCTCAGACATTTTTCTATAATACCTCCATTATTTTAGTCCCCAGTATGAGATGCCCTCTTAGAAATGTGGTCTTTTGCTTGTTTGTTTCTTTGAGACACAGTTTCACTCTGTCACCCACGCTGTAGTGCAGGGGCATGATCTCAGCTCACGGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCGGGCGCCACCACATCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTCAACATGTTGGCCAAGCTGGTCTCAAACACCTGACCTCAAGTGATTCACCCTCCTCGGCATACCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGAAATGTGTTGTGTGTTAAATCTCTTTCAGCAGGTCCAAGGAGTAATGCTGTACAAGTATCATTAGTCTTAAGCTTTATATGTATTTCAGACTTTGCTTGTCTTCCTTTGCTTATTTTTAAGATATCCCAAGGTACTTCATTAGTTACCACAGGTTGAGTATCCCAAATACAAAATGCTCTAAAATCTGAAACATTTTGAGCACTGACGTGATTCTCAGAAGTGTCAATTGGAGGATTTTGGATTTTCAGGTTTAGGGATGCTCAGCCAATAAGTATACAAGTATTCCAAAATCAGAAACACTTCTGGTCCCAAGCATTTCGGACAAGGGATACTCAAACCTGTAGTGAGTTTTGTTATAAAATTTATTTGCAACTCAGACTGGGGAAAACTTGATTTGTTTGTGCCAAAGTATTTTAATAACTCTTCTCACTTTATTGAATGATATTTTTCCCCCCAGGGAATGGATTTGTAAACTCAAGAGCTTCTCCAAATTTGATTGGAGCTACTGGTGCAAATAGCTTAGGCAAAGTCATGCCTACAAAGTCTCCCCCTCCACCAGGTGGTGGTAATCTTGGAATGAACAGTAGGAAACCAGATCTTCGAGTTGTCATCCCCCCTTCAAGCAAGGGCATGATGCCTCCACTAGTAAGTTGAACCTTTCTTCAACTTCATTCTTTAAAACACATATTTTATACATAGTCAATCTGTAGCTTCCTTTGGAATTTTCTGTGCCACCGTAGAATCTACACCTATTCCTAATAAATATTTCCATTCAAAATTAGTATTTGAAGAGACAAGTCTATTTCAAATACACAAAAATCAGATTATGGAAATTTGCTTAACAGTTACTTAAAATTAAAGCTAAATACGAACGTGGTTGGAACTGGAGGTTATTGTGTTAAGTGAAATAAGCCAGGCATAGAAAGATAGATACTGCAAGGTCTCACTCATGTGGGACCTAAAAAAATTGGTCTTGTGGAGATAGAGAATAGAATGATAGCAGAGGCTGGGAAGGGTGTGTGGGTGGGAGACGGGATGAAGAGCGGTTGATTCGTGGGTAAAAACATACACTTAGATACAATAAATATACCCCTGTATTTGATAGGAGAGAAGGGTGACTATAGTTAGCAACATTGCAGATGGAGTATATTTCAGAGTAGCTAGAAAAGAGGACTTGAAATGTTCCCAACAAATAGAAAGGATAAATACTCAAGGTAATAGATGCCCCAAACACCCTGACCTGGATCATTACGCATTCTATGAATGTAACAAATATTCACATGTACCCCATTAATATGTAACACCTTTCGAATCAGGTTTTTTTTTTTTTTTTTGAGTCGTTTTAAGGAGTGAAATTTAGTAGCCAAGAAAGAAGGAAGGAAGGAAGGAGAAAACAGCTCCCTCCAACAGAGACAGAGGGAGGGGGGATTCAAACAAAGAGGAAACCCCTCGAATGAGTTTTTAAAAAGTAAAATACAGAGAGATTATTATGTTTAATTTTAATTTTACCAGGCTAGAAGCATTAACCATGACTTATTTATTCTCTGTACTTTGTATACTTTCATTAATCAATTAAACATGCTTTTCTGTGAGAGAAGCACTAAACTATTTGTTAGAAAATTCTACATACCAGGCAGGGTACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAGGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAATTCTGCATACCACAGAACTATTGTAGGATAGGGAAGAAAGCACACAAACTTGAGTGAGTTATTCTCCAATTAATTTTATTTGCTTATTCCTTCTCAAATAACCTATTTAACTGTATAAAGAATGCAGGTAGCCTCTATTCCACTCCTTGATGACGGCTTTAGGGTTCTAGTCTCATTTGTTTTTGAGTCTTAAGTCTGTTTGTAAAGAACAGGAGAATCTATTTATCGCCCTTAGCTTCCTGTAGAAAAAAAACTAGAATATATAATCAAGTTTTAAAACTTCTTAGTTTAGCAACTGTTTGACTACTACCATACTAAATGATATGCCAGGTGTTCTCTCTGCTGAGCAGTTGCTAAACTCACCATTAGAGTTTTTGCTAAGTGAAAGTGATGCTGTCAGGCTTAGATAATAATTCCACTTTGGTATAATGCTTTATAGATTCCATAGCACCTTCATGTGTATATTGTCTCATTTAATTCTCAATTAGCCTGTGTCATTGCAAGGTAGAGATGTGGAAACTGAGTTAAAGGTTATTACTTGTCCAAGATAGTTCAAAATAGAGCTAGGACCAAATCTCTAAGTCTTACAGTCCAGGTCAAAAAACAAGTACTTTTTTATCTGGTTATACAGAAATCTGGAAACAGTCACTCCCAGCCTCACAATTAAAAAAACTTGGATATACAGAAAGTTCATAGTTTTCCTTGAACTCATTATAGTGCTGAGATTTCACGGCAACCAACT 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AGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCTGCTGCACTCCAGCCTGGGCAACAGGGCAAGTCTCCGTCTGAAAAGTAAATAAATAAATAAATAAAAATAAAATGCTTCCTCAGGCACAGTTTAGGGAATGTGAGAGCCTCCTGATAATCATGGAAGAGTTGTTTTACCCGGGTTCTGATTGGTCATTACCACATCCAGTCACTGTGGTGAGCGAGAATGACCTGAGTCAAATGCCTATCACTAAGTTCATCTGGGGGCTGGAGGGAGGGTTGCAGAGAGTCAGCCCCACCCAGTCCACGTGGTTGCTATACATGGGAAGAAGTAGAATGACTGACTACAGTATTCATGAAAACAGGATGGTTTCATACGTATTTTATATCTCAACTAGTACCCAAAAGTATTATATACATAGAGCATATATCACAATGTGCATTTTTCCTCATTTCATTAAGGGAGATGGAAGGTTCTGTTAGGGAAAGTTTAGGAATAAGATGATTAAAGTGAGATAAATCAGAAATATTTAATAAGGACCTCAGTGAAGCTGAAGAAACAGACTCAGTAGAAGTAGAGCCATAAGGAAGAAGTACGTGGTGAAAACGGGGCATTAGAAATGAGTGCTGAATAAGCTGCAGTTAAGAAGCTGCTCTGATACCTAGTTCACTACTCAGAACTTAGTGGTAGCAGTGCCTTTGCTCTCACAAGAGTGAATGAATAGGCTGGTCTCAGACATTTTTCTATAATACCTCCATTATTTTAGTCCCCAGTATGAGATGCCCTCTTAGAAATGTGGTCTTTTGCTTGTTTGTTTCTTTGAGACACAGTTTCACTCTGTCACCCACGCTGTAGTGCAGGGGCATGATCTCAGCTCACGGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCGGGCGCCACCACATCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTCAACATGTTGGCCAAGCTGGTCTCAAACACCTGACCTCAAGTGATTCACCCTCCTCGGCATACCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGAAATGTGTTGTGTGTTAAATCTCTTTCAGCAGGTCCAAGGAGTAATGCTGTACAAGTATCATTAGTCTTAAGCTTTATATGTATTTCAGACTTTGCTTGTCTTCCTTTGCTTATTTTTAAGATATCCCAAGGTACTTCATTAGTTACCACAGGTTGAGTATCCCAAATACAAAATGCTCTAAAATCTGAAACATTTTGAGCACTGACGTGATTCTCAGAAGTGTCAATTGGAGGATTTTGGATTTTCAGGTTTAGGGATGCTCAGCCAATAAGTATACAAGTATTCCAAAATCAGAAACACTTCTGGTCCCAAGCATTTCGGACAAGGGATACTCAAACCTGTAGTGAGTTTTGTTATAAAATTTATTTGCAACTCAGACTGGGGAAAACTTGATTTGTTTGTGCCAAAGTATTTTAATAACTCTTCTCACTTTATTGAATGATATTTTTCCCCCCAGGGAATGGATTTGTAAACTCAAGAGCTTCTCCAAATTTGATTGGAGCTACTGGTGCAAATAGCTTAGGCAAAGTCATGCCTACAAAGTCTCCCCCTCCACCAGGTGGTGGTAATCTTGGAATGAACAGTAGGAAACCAGATCTTCGAGTTGTCATCCCCCCTTCAAGCAAGGACATGATGCCTCCACTAGTAAGTTGAACCTTTCTTCAACTTCATTCTTTAAAACACATATTTTATACATAGTCAATCTGTAGCTTCCTTTGGAATTTTCTGTGCCACCGTAGAATCTACACCTATTCCTAATAAATATTTCCATTCAAAATTAGTATTTGAAGAGACAAGTCTATTTCAAATACACAAAAATCAGATTATGGAAATTTGCTTAACAGTTACTTAAAATTAAAGCTAAATACGAACGTGGTTGGAACTGGAGGTTATTGTGTTAAGTGAAATAAGCCAGGCATAGAAAGATAGATACTGCAAGGTCTCACTCATGTGGGACCTAAAAAAATTGGTCTTGTGGAGATAGAGAATAGAATGATAGCAGAGGCTGGGAAGGGTGTGTGGGTGGGAGACGGGATGAAGAGCGGTTGATTCGTGGGTAAAAACATACACTTAGATACAATAAATATACCCCTGTATTTGATAGGAGAGAAGGGTGACTATAGTTAGCAACATTGCAGATGGAGTATATTTCAGAGTAGCTAGAAAAGAGGACTTGAAATGTTCCCAACAAATAGAAAGGATAAATACTCAAGGTAATAGATGCCCCAAACACCCTGACCTGGATCATTACGCATTCTATGAATGTAACAAATATTCACATGTACCCCATTAATATGTAACACCTTTCGAATCAGGTTTTTTTTTTTTTTTTTGAGTCGTTTTAAGGAGTGAAATTTAGTAGCCAAGAAAGAAGGAAGGAAGGAAGGAGAAAACAGCTCCCTCCAACAGAGACAGAGGGAGGGGGGATTCAAACAAAGAGGAAACCCCTCGAATGAGTTTTTAAAAAGTAAAATACAGAGAGATTATTATGTTTAATTTTAATTTTACCAGGCTAGAAGCATTAACCATGACTTATTTATTCTCTGTACTTTGTATACTTTCATTAATCAATTAAACATGCTTTTCTGTGAGAGAAGCACTAAACTATTTGTTAGAAAATTCTACATACCAGGCAGGGTACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCCAGGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAATTCTGCATACCACAGAACTATTGTAGGATAGGGAAGAAAGCACACAAACTTGAGTGAGTTATTCTCCAATTAATTTTATTTGCTTATTCCTTCTCAAATAACCTATTTAACTGTATAAAGAATGCAGGTAGCCTCTATTCCACTCCTTGATGACGGCTTTAGGGTTCTAGTCTCATTTGTTTTTGAGTCTTAAGTCTGTTTGTAAAGAACAGGAGAATCTATTTATCGCCCTTAGCTTCCTGTAGAAAAAAAACTAGAATATATAATCAAGTTTTAAAACTTCTTAGTTTAGCAACTGTTTGACTACTACCATACTAAATGATATGCCAGGTGTTCTCTCTGCTGAGCAGTTGCTAAACTCACCATTAGAGTTTTTGCTAAGTGAAAGTGATGCTGTCAGGCTTAGATAATAATTCCACTTTGGTATAATGCTTTATAGATTCCATAGCACCTTCATGTGTATATTGTCTCATTTAATTCTCAATTAGCCTGTGTCATTGCAAGGTAGAGATGTGGAAACTGAGTTAAAGGTTATTACTTGTCCAAGATAGTTCAAAATAGAGCTAGGACCAAATCTCTAAGTCTTACAGTCCAGGTCAAAAAACAAGTACTTTTTTATCTGGTTATACAGAAATCTGGAAACAGTCACTCCCAGCCTCACAATTAAAAAAACTTGGATATACAGAAAGTTCATAGTTTTCCTTGAACTCATTATAGTGCTGAGATTTCACGGCAACCAACT 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Task1_train_21936 | A genomic change on Chromosome 15 affects CERS3 (ceramide synthase 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Lamellar ichthyosis | CAGGTGCAAAAGTTGTGCCATGTCTGGGTTCAATTAGAACTTGATTGTGAAAACAAACCCTAAAACACACTATTCAAGTAAGCCATGGGCTGTGCACCCTGGGAGAACATCACAAATAGGCCCCTGCCACCACTTAATATTTTGTCTACCACCAGCTGATGGGAGGTACCAGCCTTGCTCATCGAACCTCACATCAGATCATGACTTGTGGATCAAGAATGATTCTCAATCATTAGCAATATGAAGCTGTTCTTAAAGTTTGCCCATGAGGGAACCTCTAAGATTGGACAGTTCATTTTTCTTCTTCTTCTTTTTTTTTTAACCTAAGGACCTCAGAACGTTTTCAGGTAATAATGAGCTAAACTTCATCACATACCCCAATGGACAGATATGAATTCTCATGTTACAGCTGGGGCTAGAAAACAAAACAATAAGTGATTTGTCCAAGTTACTTAGGGAATCATGTCACATCAGTGAAAGGGTGGGGAGGGTGGCAGGGCAACCCCGTGTTTATTCCCAGGGTGAACATCTAACTCCCCTTTAATAACACAATGAGGCTGTTTTTACATTGGACACACACCAAAGGCAATTGAATATGAGGGTTTAGAAGCAACAGAGTCGTATAAAATTCTTAAGTCGGGGCCAGTGTGGTCTTAATCTTCTGTCAGGATTACTGAGATACGATCAGAGAAGGAGGTAATTACACCAGCGAGGGCTGCATCCAGACAGCACCATACAGAAAAAAACGGCACAATCCTTCTCCTGCTAAGTCATTTGTTGCCCTGAAGCACATATAATAATCTTGACCTTTAGAATGGGATTTACATGTCTAATGATGATTACATACAGGGTAGAAACAAAATTCTGTACGCAGAGGATATTTTAATAGTGGCCAGTTGCTTTGAAATGGCTGCAAGTGACTTCTGGTGGCTTCTACAACAGGGTCTGGTAAATTACAGTCCCCCCATGGGCTAAAGCCGATCAGCCCTTAAGAATGATTCTCACAGTTTTAAGAGGGTATTTGAAAAAGCAAAAAACAAAAAACACAGAAGAATATGTGACAGAGATCATACGCAGCCCACAAAACTAAATTTACTATCTGGCCCTTTGCCAAGAAGTTTGCTAAACCCCAACCTAGAAGAATAAGATTCTATTAAATTTAATTTCTTCCATAGCAACCTGTATTCAATTGTTAGCCCTTCAAAAGTAATCCCAAATGTGAAATGGGTTAGCGTCATTTCCCCTGGATTCATTATAAATGAGTATATTTAAACAAATAACTCAGCAGTTCTGGGAACTGTTGCTCTAAATACAGCAAGAGATCTGGCAGAGAAGGGGACAATTCCATCACTGCCTGGGGTCAACAAGAATCAAAATAGAACAGAAACAGGTCCGGAAAACAATCCCAACGTGGCTTTGTTTCTTCTATTTTGTGTGGGGTGAGATTAGGAAGACTCTTGTTTTAATGTTGACTCCTTCAGAAAACATTCTAAGCCCTCTTCCTCCCTTAGAAAATGAGGGCCTTAAAAAAAATCATCTTACACTCCTTAAAGCAAGGGATTGGGCTCGGGGAGGGGAGGGTGGGGGAGTGTGAACATTCAACGGGTATTCAAGCATTGGCCTAAGTGAATAGATGGTGCCATCCAAATTTGGGAATCCTCAATGTCATAAATCCAAGTTTTCCTTTTAGAAGATTAGAGTCCATTCCTTCTTCAAATATCCCATCTTACTTCCTGAGTGGGCATGTGCATGCAACCTTCAGGAGTGGAATCCCACAAATTAACATCTCTCTAGTACCATGGAGAAGGATTCAAAGTTAAAACTAAGAGGTTTCATTTCTGTAATCTTGGAGGATCTGGGAATCTAGAGATATTCTCAGAATTTGGGTGTTTTCAGGACACAGAGCTCTGCTAAATTGCTCACAATTACTTCTGTGAGCAGTTACGGAAACCCAGGACATGGTATTGTCATTAGTTTTTTAATGGCAAACGTTTACCTCCAGCCAAATGTCAGCCACATCGTGTACAATCATCACGAGGGTCCCACTGCGAATATAATTAGCACACCAAGAGAAGCTCATCAGACTAATAGCAGCCAGGTGGTGGATGATATGAGCTAGAAAATCCTGTAAGATGAGGGAAAATGGAAGCCATTAAGGAAATGCATTTATTTCCCAATCACTGGAAGAGATAATCATAATAATAATGAGACCAATAACTTACATCTGCATGTTTTGAAATTTATAAAATGCTTTTACTTCCTAAACACAATCTTTGTGAGGGAGCTAAGACATGTATTATTCTTGTTGATGAAATCATTTAACGTTGAGATACCATCCCACACTGGATATATGTGTACACACACACTGCCCCCCAACACACAATAAATGCATACACACACAAGCATATTCCTGTGTACACCTACAGTTATTGTTTAGCCCCTGCCTATTCCCCAAAAAGAAAAAAAAGATTGATATAATAAATCTACACAACCATTAAATAAGTTAGTGCATATGAAATAAGACAATCTAGCCTAAGGAAAGCTACTGTCACTGAGTATAATAAAGACTTAAAGGTTTTCTGCAAAGAAAATATACAAATGGCCAATTCACACATGAAAGCATGCTCAATCATTAGCCATTGGGAGAATACAAACCAAAACCACAATGAGATATACTTCACACCCACTAGGATGGCTATAATAAAAAAGATGAACAATAACAAGTGTTGGCAAGGATGTGGAGAAACTGGAACTCTAATACAGTGCTGGTAGGGATGCAAAATGGTGTAGCTGCTTTGTTAAACAGTCTGACAGTTTCTCAAAAGATTAGACATAGAATTACCATATGGCCCAGCAATTCCACTCTTAGGTGGAATGAAAACATATGTTCATGCAAAAACTTGTGTATGAATCCACAGCATTACTCATAACAGCCAAATGGAGGAAACAACCCAAATGTCCATCAACTGATAAGAGGATGAATAAAATGCATCCATCCGTACAATGGACTATTACTTAGCAATAAAAAGTAATGATGTACTGATACATGCCATAACATGGATGAACCTGGAAAACATTACAGTAAGTGAAACAAGACAAACATAAAAGACCAGGTATTATATAATTCCACTTATATAAAATATCCAGAAGAGGCACATCTATAGAGACAAAGGAGATTTATGGTTGCCAGGGGCTGGGGAGGTTGAGAGAAACGAGGAGTGACTGCTAAATGGTATAGAGTTTCTTCTTGGGATGACACAAATGTTCTAAAATTGACTGTGATGATGATTGCACAACTCTGAATATATGTTAAAAACTACTGAATGTATACTTTAAATGGTTTAATTGTGTTATATGTGGATATCTCAATAAAGATGTTTAAAAAACTTAAAGATTTCAGCTTCCTCATAGCCAAAGTAAATACAATACCAATAATAGCTCAATTTATTGAGCACTTGCTGTATATCAGGAAGTTTCTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGCAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGAAGAGACAGGATTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCTCTGCGCCCAGCCTCAGGAAGTATTTTATACAGATTAACCTGTTTAATTCCCACAACAAACAGAGGAGATAGGAACTATTTTTAGCTTCATTTTATAGATAAGGAGATCAAGTTTAGAGAGTTTAACTAACTAGCTCAAGATGTTAGTGCGTGGTGAAGCCAGGAATTCAAACCCAGGAGACCTGACTCCAGGGCCTGTGCTTTAGCCACCTCCCAATAGCTTTATGTTTCTGAAGATACATCTTTATAAGACATTTAACATATATTTATATTTAATTTTTAAGAAGGTGTTCAATGCACCCGTAAATGATAAAAGGGAAGTCAACTACGGCAA 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CAGGTGCAAAAGTTGTGCCATGTCTGGGTTCAATTAGAACTTGATTGTGAAAACAAACCCTAAAACACACTATTCAAGTAAGCCATGGGCTGTGCACCCTGGGAGAACATCACAAATAGGCCCCTGCCACCACTTAATATTTTGTCTACCACCAGCTGATGGGAGGTACCAGCCTTGCTCATCGAACCTCACATCAGATCATGACTTGTGGATCAAGAATGATTCTCAATCATTAGCAATATGAAGCTGTTCTTAAAGTTTGCCCATGAGGGAACCTCTAAGATTGGACAGTTCATTTTTCTTCTTCTTCTTTTTTTTTTAACCTAAGGACCTCAGAACGTTTTCAGGTAATAATGAGCTAAACTTCATCACATACCCCAATGGACAGATATGAATTCTCATGTTACAGCTGGGGCTAGAAAACAAAACAATAAGTGATTTGTCCAAGTTACTTAGGGAATCATGTCACATCAGTGAAAGGGTGGGGAGGGTGGCAGGGCAACCCCGTGTTTATTCCCAGGGTGAACATCTAACTCCCCTTTAATAACACAATGAGGCTGTTTTTACATTGGACACACACCAAAGGCAATTGAATATGAGGGTTTAGAAGCAACAGAGTCGTATAAAATTCTTAAGTCGGGGCCAGTGTGGTCTTAATCTTCTGTCAGGATTACTGAGATACGATCAGAGAAGGAGGTAATTACACCAGCGAGGGCTGCATCCAGACAGCACCATACAGAAAAAAACGGCACAATCCTTCTCCTGCTAAGTCATTTGTTGCCCTGAAGCACATATAATAATCTTGACCTTTAGAATGGGATTTACATGTCTAATGATGATTACATACAGGGTAGAAACAAAATTCTGTACGCAGAGGATATTTTAATAGTGGCCAGTTGCTTTGAAATGGCTGCAAGTGACTTCTGGTGGCTTCTACAACAGGGTCTGGTAAATTACAGTCCCCCCATGGGCTAAAGCCGATCAGCCCTTAAGAATGATTCTCACAGTTTTAAGAGGGTATTTGAAAAAGCAAAAAACAAAAAACACAGAAGAATATGTGACAGAGATCATACGCAGCCCACAAAACTAAATTTACTATCTGGCCCTTTGCCAAGAAGTTTGCTAAACCCCAACCTAGAAGAATAAGATTCTATTAAATTTAATTTCTTCCATAGCAACCTGTATTCAATTGTTAGCCCTTCAAAAGTAATCCCAAATGTGAAATGGGTTAGCGTCATTTCCCCTGGATTCATTATAAATGAGTATATTTAAACAAATAACTCAGCAGTTCTGGGAACTGTTGCTCTAAATACAGCAAGAGATCTGGCAGAGAAGGGGACAATTCCATCACTGCCTGGGGTCAACAAGAATCAAAATAGAACAGAAACAGGTCCGGAAAACAATCCCAACGTGGCTTTGTTTCTTCTATTTTGTGTGGGGTGAGATTAGGAAGACTCTTGTTTTAATGTTGACTCCTTCAGAAAACATTCTAAGCCCTCTTCCTCCCTTAGAAAATGAGGGCCTTAAAAAAAATCATCTTACACTCCTTAAAGCAAGGGATTGGGCTCGGGGAGGGGAGGGTGGGGGAGTGTGAACATTCAACGGGTATTCAAGCATTGGCCTAAGTGAATAGATGGTGCCATCCAAATTTGGGAATCCTCAATGTCATAAATCCAAGTTTTCCTTTTAGAAGATTAGAGTCCATTCCTTCTTCAAATATCCCATCTTACTTCCTGAGTGGGCATGTGCATGCAACCTTCAGGAGTGGAATCCCACAAATTAACATCTCTCTAGTACCATGGAGAAGGATTCAAAGTTAAAACTAAGAGGTTTCATTTCTGTAATCTTGGAGGATCTGGGAATCTAGAGATATTCTCAGAATTTGGGTGTTTTCAGGACACAGAGCTCTGCTAAATTGCTCACAATTACTTCTGTGAGCAGTTACGGAAACCCAGGACATGGTATTGTCATTAGTTTTTTAATGGCAAACGTTTACCTCCAGCCAAATGTCAGCCACATCGTGTACAATCATCACGAGGGTCCCACTGTGAATATAATTAGCACACCAAGAGAAGCTCATCAGACTAATAGCAGCCAGGTGGTGGATGATATGAGCTAGAAAATCCTGTAAGATGAGGGAAAATGGAAGCCATTAAGGAAATGCATTTATTTCCCAATCACTGGAAGAGATAATCATAATAATAATGAGACCAATAACTTACATCTGCATGTTTTGAAATTTATAAAATGCTTTTACTTCCTAAACACAATCTTTGTGAGGGAGCTAAGACATGTATTATTCTTGTTGATGAAATCATTTAACGTTGAGATACCATCCCACACTGGATATATGTGTACACACACACTGCCCCCCAACACACAATAAATGCATACACACACAAGCATATTCCTGTGTACACCTACAGTTATTGTTTAGCCCCTGCCTATTCCCCAAAAAGAAAAAAAAGATTGATATAATAAATCTACACAACCATTAAATAAGTTAGTGCATATGAAATAAGACAATCTAGCCTAAGGAAAGCTACTGTCACTGAGTATAATAAAGACTTAAAGGTTTTCTGCAAAGAAAATATACAAATGGCCAATTCACACATGAAAGCATGCTCAATCATTAGCCATTGGGAGAATACAAACCAAAACCACAATGAGATATACTTCACACCCACTAGGATGGCTATAATAAAAAAGATGAACAATAACAAGTGTTGGCAAGGATGTGGAGAAACTGGAACTCTAATACAGTGCTGGTAGGGATGCAAAATGGTGTAGCTGCTTTGTTAAACAGTCTGACAGTTTCTCAAAAGATTAGACATAGAATTACCATATGGCCCAGCAATTCCACTCTTAGGTGGAATGAAAACATATGTTCATGCAAAAACTTGTGTATGAATCCACAGCATTACTCATAACAGCCAAATGGAGGAAACAACCCAAATGTCCATCAACTGATAAGAGGATGAATAAAATGCATCCATCCGTACAATGGACTATTACTTAGCAATAAAAAGTAATGATGTACTGATACATGCCATAACATGGATGAACCTGGAAAACATTACAGTAAGTGAAACAAGACAAACATAAAAGACCAGGTATTATATAATTCCACTTATATAAAATATCCAGAAGAGGCACATCTATAGAGACAAAGGAGATTTATGGTTGCCAGGGGCTGGGGAGGTTGAGAGAAACGAGGAGTGACTGCTAAATGGTATAGAGTTTCTTCTTGGGATGACACAAATGTTCTAAAATTGACTGTGATGATGATTGCACAACTCTGAATATATGTTAAAAACTACTGAATGTATACTTTAAATGGTTTAATTGTGTTATATGTGGATATCTCAATAAAGATGTTTAAAAAACTTAAAGATTTCAGCTTCCTCATAGCCAAAGTAAATACAATACCAATAATAGCTCAATTTATTGAGCACTTGCTGTATATCAGGAAGTTTCTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGCAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGAAGAGACAGGATTTCACCATGTTGGCCAGGATGGCCTCGATCTCTTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCTCTGCGCCCAGCCTCAGGAAGTATTTTATACAGATTAACCTGTTTAATTCCCACAACAAACAGAGGAGATAGGAACTATTTTTAGCTTCATTTTATAGATAAGGAGATCAAGTTTAGAGAGTTTAACTAACTAGCTCAAGATGTTAGTGCGTGGTGAAGCCAGGAATTCAAACCCAGGAGACCTGACTCCAGGGCCTGTGCTTTAGCCACCTCCCAATAGCTTTATGTTTCTGAAGATACATCTTTATAAGACATTTAACATATATTTATATTTAATTTTTAAGAAGGTGTTCAATGCACCCGTAAATGATAAAAGGGAAGTCAACTACGGCAA 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Task1_train_21937 | A variant was discovered on Chromosome 15, affecting CERS3 (ceramide synthase 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 9 | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATCTCCCACTAATGATATAGAAGCCCTGGAAAAAAACATAAACTTATACTTCAAAAAGTATGACCTCTCTCCCTGTTAAATTTTCCTTCCTTCTATGGCATTAAAAGAGATATGGCATTAGTGAAGCAACACATAGTTTTCTGCAGCGTCACAATGGAAAAGGCTGAGAGTGAGTTATTGGGAGCTGAAGTTATAAGGAGATAGAATAGAGAATATAGACTATACTTAATCCCTTGAGAAGAAGCAACAATGGTCCTAGGAATTAAGAGAGGGTTGGATTCCTTCCTGATTGTTGTTGGAGAGGCCAAGACAGGGACGTAACAAGCTGGTCCTCCACAGCTGTGCTTCTTTGGCAACCTAAAGATGTTTCTGGCTCACAGTCCTGGCCAAACTGTGAAAAATGGAGCTGTCCACCAAAAAGTAGGAAATCTGCAATGGAAATAAGTAATGGACCTGGATGCCAAATTCAAAGATCACCGGATACAATGCAAAAACACCTAGTATTTCAGGATAGTAATTCTTCTACTTTATTTATGCATTCTTGACATATCCAAATACGTGAGTAAAAAGTAGAATTAACTGTCAGAAAAGAAGTACATTTTCAAATGCTCTCAGCCAGGGTTTAGTGGTTTCCAGGGGCTTTCTTTTCCTCCCAATAGGAATAGCACGCTGTTGGCCCCAGTGAAGTTGTTGTTTGTACAAAAACTTTTTCAAGAGTTCATGAAACAGAGTTGGTCAAACTAGCTCTCAAGATAAGGACCCTGCAAATGTTTATAAACATATGATCTGCATTACAGTTAGTCTTGGACAAAATGATCTCTATCAGATTTTGTCTCAAGTTTTTCCAACTCTTGACATTTGAATATTCTCTTTGCTCCAAATAAATTAATGTGCTAATAACAGCTTTTTGAAATAGAGTCAACAACAGAGATTATAGATGAACATTTATCTACTGTTATCATAACACTAGTACAATTTTAATAAAAAGGCTGGAAATAATATCCATTTAAATTAAATCAAGAAAAAAATAAGTTTACTTTTTCTGAGAAAGCAAACTGATAGTTTTTCTCTTTGATTTCCTTGCACTTTAGAACGAAGGGCAGCTATTAAACCTTTAAATAAACCTTTAAAATAAGCTATACTATATAGCAATATTTGGTTTAGACTTTAATGAGCCATTTTTGTTATTTTATAGGCACTTGAGGATGCTAATGCTTCCTGAGTCATAGACTCTTCTAGCACAGCCTTTCTGGGAATGCACATGCATTGTCAGACACCGTGGAAGAGTAGATGAACTGGGTTCCCGTATTGTCATTGATACCAATAAGCTCTGTGGTCCGCAACCTCTCTTGATCTTGATTTTCTTCGTTATAAAACTAAAGCACTCAGTGGGATCCATGTTTCTAATTTTTTGTTGTTCAGCCTTTAAATAACATTTGGAGCGCATCTGATTACATTAACTCATCCCCAGAATCTGTGGCCCATTAGTGGCAACCTCTGAACAACAGATTCTTTAAGGATCTCACTAAGCCTAAGACTGTATTATTCTAGTGTTAGAGCAAAGAGGGGGAATGGGAAGGAAAGACACAAGTACTACTTACTTTTCAAATACACGTCTGATAATCAGCAAGAGAAAAGCATATGGAATTGTCACGTATAAATGAGAAGGTTTTACAAAGACGAGTCCATCGTGATCCTCAAGATCTGACCACTTTATTGTTGGAGGAAGCCAGAATCTTTCCAACCAGAACCATTCTTTAAACGTCCAAAACATTCTAGAGAAATGGAAACAGACATTAGGCTTGTAAAACAAACACGTAACTTTAGGATAACATTGATCACCTTGGCTCAAAATGCCAGATCCAGAGAGCTTAGAAAATAAGGCAAGAGGCCTAGCGCAGTGGCTCACACCTGCAATATCAGCACTTTGGGAGACCAAGGCGGGCGGATCATGAGGTCAAGAGATCAAGTCCATCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTGGTCAGGTGTGGTGGTGCACACCTGTAGTCCCAGCAACTTGGGAGGCTGTGGCAGGAGAATAGCTTGATCCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCCACCTCAAAAAAAGAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAATAAGGCAAGAATGGAATACTATTATTTAATGGATTATATGATCCTTCATTGCATTAAACAGGAATTACTCTTCCATACCCTCAGGACAATTTTGTTTATGGAAAAACTCAAGTTTAACACATCACTATTCACACTTTTGGCAAAACATATGTGAATATTATGCACGTGTATTTTCTTTGTGTATGATTCTATGGTATAAAAAAATAACAATAGGCTTTACAACTTTAACATGCCAAAAGTCAATGTCCTGAAGGCTCCAGGTAGGTACAAATCATCACTAGTACCCTAAAAAATTCCCCAGGAAATAAGGGGCAGGCACGTTTCACTTCATATTACAAGGAGATCAAATTAGTCTATGTAAAGGAATATTTATTAAGATTCTGTTATTTGTGAAGAGCCGTGCTGAGCACTGAGGATAAAACAATTAATAAGACAGGCTTCCTGCCTTGAGGACATAATAGTCTCGTAAGCAAGGCAGGCCTGAACTCATGACTTCAACACATTTTTTTTTTTAGGTATGCTAAAAAACGTATACAGGTTGCTGTGGGAACAAGATGATGGGCACTGAGCCCAACCAGGAAATATCAGGGAAAGGTAACTGGAAGAAAAAGTCCTTGAGATATCTTGAACAATAAGTGGACATAAGCCAGGAAAGGCAGGAAAATGGGGAAGAAGGAATACAAGTTCTAAGCAGACAAAGTATTCAGACTACAATCAAGTAACCAGAGCATAGAATAATGTAAATTAGATGTTTTAATATCATTGTTTAGGCTGTGATCATTTTGGACTTGGGATTTTGACTTGAGGATGCATGAATTTCATCTTTTAATGTTTAATCAGAAAAAGGAATCAAAATGTCCTCAGATTCACAACAAGGTTGTCAAAATCACTCTGTCAAAACCTCTTAATCGGGAAATAACAAGGCGCACATAGAAAACTACCAGTGGGTTGGTACTACCACAGTGAATGAATCCAAGGTGTGGAATGGTAGGTTACAAATAAGTGCCCAGGCACTGCAGTGGATTGCCCTGGCATAATCAGTAACAGCTCTTCCTTCCTTTCAGAAGTATTCTGAAAGGAATACTTTGGACAATAAATCATATGATCACCCTCATTAAAATGCTGGTGGGACAAGCAGGCTAGGCCTTAGAGCGTTTGCTTGCATTCCATGCTAAGGAGTTTGGCATTTAGCTGATAGGACCCACTGAAGGGTATTATGAAGAGGAATGAGATGGTCAGCTATTTTAGAAAGGTCAATTTGGTAGCCAGCTCCTCTGTGAGCCCATAGGGTGTCTTTGTGCTGATTAGAGGAAGGTATTCTCTCTAGGCAGACACAGCTCTACCAAGCCCAAAATGATCAGTGGAATGAGGACTGGATTTCAAGCCCCCTCCCCACTTTGCTTCACCCGGGCACATGCCTGGCAGCTCTTCTGGCAGTGGTGTGAAGCATGCCTCAGGAGATGGAGAAACTAGAGGACAATCAGCTCACAGCAATAGATGCAGTCAGCAGAGAGAAGGTTTGGCCAGAGCAGTGGGGACCAGAGGGAATAACGCCATCTGTGG 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GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATCTCCCACTAATGATATAGAAGCCCTGGAAAAAAACATAAACTTATACTTCAAAAAGTATGACCTCTCTCCCTGTTAAATTTTCCTTCCTTCTATGGCATTAAAAGAGATATGGCATTAGTGAAGCAACACATAGTTTTCTGCAGCGTCACAATGGAAAAGGCTGAGAGTGAGTTATTGGGAGCTGAAGTTATAAGGAGATAGAATAGAGAATATAGACTATACTTAATCCCTTGAGAAGAAGCAACAATGGTCCTAGGAATTAAGAGAGGGTTGGATTCCTTCCTGATTGTTGTTGGAGAGGCCAAGACAGGGACGTAACAAGCTGGTCCTCCACAGCTGTGCTTCTTTGGCAACCTAAAGATGTTTCTGGCTCACAGTCCTGGCCAAACTGTGAAAAATGGAGCTGTCCACCAAAAAGTAGGAAATCTGCAATGGAAATAAGTAATGGACCTGGATGCCAAATTCAAAGATCACCGGATACAATGCAAAAACACCTAGTATTTCAGGATAGTAATTCTTCTACTTTATTTATGCATTCTTGACATATCCAAATACGTGAGTAAAAAGTAGAATTAACTGTCAGAAAAGAAGTACATTTTCAAATGCTCTCAGCCAGGGTTTAGTGGTTTCCAGGGGCTTTCTTTTCCTCCCAATAGGAATAGCACGCTGTTGGCCCCAGTGAAGTTGTTGTTTGTACAAAAACTTTTTCAAGAGTTCATGAAACAGAGTTGGTCAAACTAGCTCTCAAGATAAGGACCCTGCAAATGTTTATAAACATATGATCTGCATTACAGTTAGTCTTGGACAAAATGATCTCTATCAGATTTTGTCTCAAGTTTTTCCAACTCTTGACATTTGAATATTCTCTTTGCTCCAAATAAATTAATGTGCTAATAACAGCTTTTTGAAATAGAGTCAACAACAGAGATTATAGATGAACATTTATCTACTGTTATCATAACACTAGTACAATTTTAATAAAAAGGCTGGAAATAATATCCATTTAAATTAAATCAAGAAAAAAATAAGTTTACTTTTTCTGAGAAAGCAAACTGATAGTTTTTCTCTTTGATTTCCTTGCACTTTAGAACGAAGGGCAGCTATTAAACCTTTAAATAAACCTTTAAAATAAGCTATACTATATAGCAATATTTGGTTTAGACTTTAATGAGCCATTTTTGTTATTTTATAGGCACTTGAGGATGCTAATGCTTCCTGAGTCATAGACTCTTCTAGCACAGCCTTTCTGGGAATGCACATGCATTGTCAGACACCGTGGAAGAGTAGATGAACTGGGTTCCCGTATTGTCATTGATACCAATAAGCTCTGTGGTCCGCAACCTCTCTTGATCTTGATTTTCTTCGTTATAAAACTAAAGCACTCAGTGGGATCCATGTTTCTAATTTTTTGTTGTTCAGCCTTTAAATAACATTTGGAGCGCATCTGATTACATTAACTCATCCCCAGAATCTGTGGCCCATTAGTGGCAACCTCTGAACAACAGATTCTTTAAGGATCTCACTAAGCCTAAGACTGTATTATTCTAGTGTTAGAGCAAAGAGGGGGAATGGGAAGGAAAGACACAAGTACTACTTACTTTTCAAATACACGTCTGATAATCAGCAAGAGAAAAGCATATGGAATTGTCACGTATAAATGAGAAGGTTTTACAAAGACGAGTCCATCGTGATCCTCAAGATCTGACCACTTTATTGTTGGAGGAAGCCGGAATCTTTCCAACCAGAACCATTCTTTAAACGTCCAAAACATTCTAGAGAAATGGAAACAGACATTAGGCTTGTAAAACAAACACGTAACTTTAGGATAACATTGATCACCTTGGCTCAAAATGCCAGATCCAGAGAGCTTAGAAAATAAGGCAAGAGGCCTAGCGCAGTGGCTCACACCTGCAATATCAGCACTTTGGGAGACCAAGGCGGGCGGATCATGAGGTCAAGAGATCAAGTCCATCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTGGTCAGGTGTGGTGGTGCACACCTGTAGTCCCAGCAACTTGGGAGGCTGTGGCAGGAGAATAGCTTGATCCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCCACCTCAAAAAAAGAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAATAAGGCAAGAATGGAATACTATTATTTAATGGATTATATGATCCTTCATTGCATTAAACAGGAATTACTCTTCCATACCCTCAGGACAATTTTGTTTATGGAAAAACTCAAGTTTAACACATCACTATTCACACTTTTGGCAAAACATATGTGAATATTATGCACGTGTATTTTCTTTGTGTATGATTCTATGGTATAAAAAAATAACAATAGGCTTTACAACTTTAACATGCCAAAAGTCAATGTCCTGAAGGCTCCAGGTAGGTACAAATCATCACTAGTACCCTAAAAAATTCCCCAGGAAATAAGGGGCAGGCACGTTTCACTTCATATTACAAGGAGATCAAATTAGTCTATGTAAAGGAATATTTATTAAGATTCTGTTATTTGTGAAGAGCCGTGCTGAGCACTGAGGATAAAACAATTAATAAGACAGGCTTCCTGCCTTGAGGACATAATAGTCTCGTAAGCAAGGCAGGCCTGAACTCATGACTTCAACACATTTTTTTTTTTAGGTATGCTAAAAAACGTATACAGGTTGCTGTGGGAACAAGATGATGGGCACTGAGCCCAACCAGGAAATATCAGGGAAAGGTAACTGGAAGAAAAAGTCCTTGAGATATCTTGAACAATAAGTGGACATAAGCCAGGAAAGGCAGGAAAATGGGGAAGAAGGAATACAAGTTCTAAGCAGACAAAGTATTCAGACTACAATCAAGTAACCAGAGCATAGAATAATGTAAATTAGATGTTTTAATATCATTGTTTAGGCTGTGATCATTTTGGACTTGGGATTTTGACTTGAGGATGCATGAATTTCATCTTTTAATGTTTAATCAGAAAAAGGAATCAAAATGTCCTCAGATTCACAACAAGGTTGTCAAAATCACTCTGTCAAAACCTCTTAATCGGGAAATAACAAGGCGCACATAGAAAACTACCAGTGGGTTGGTACTACCACAGTGAATGAATCCAAGGTGTGGAATGGTAGGTTACAAATAAGTGCCCAGGCACTGCAGTGGATTGCCCTGGCATAATCAGTAACAGCTCTTCCTTCCTTTCAGAAGTATTCTGAAAGGAATACTTTGGACAATAAATCATATGATCACCCTCATTAAAATGCTGGTGGGACAAGCAGGCTAGGCCTTAGAGCGTTTGCTTGCATTCCATGCTAAGGAGTTTGGCATTTAGCTGATAGGACCCACTGAAGGGTATTATGAAGAGGAATGAGATGGTCAGCTATTTTAGAAAGGTCAATTTGGTAGCCAGCTCCTCTGTGAGCCCATAGGGTGTCTTTGTGCTGATTAGAGGAAGGTATTCTCTCTAGGCAGACACAGCTCTACCAAGCCCAAAATGATCAGTGGAATGAGGACTGGATTTCAAGCCCCCTCCCCACTTTGCTTCACCCGGGCACATGCCTGGCAGCTCTTCTGGCAGTGGTGTGAAGCATGCCTCAGGAGATGGAGAAACTAGAGGACAATCAGCTCACAGCAATAGATGCAGTCAGCAGAGAGAAGGTTTGGCCAGAGCAGTGGGGACCAGAGGGAATAACGCCATCTGTGG 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Task1_train_21938 | The gene CERS3 (ceramide synthase 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATCTCCCACTAATGATATAGAAGCCCTGGAAAAAAACATAAACTTATACTTCAAAAAGTATGACCTCTCTCCCTGTTAAATTTTCCTTCCTTCTATGGCATTAAAAGAGATATGGCATTAGTGAAGCAACACATAGTTTTCTGCAGCGTCACAATGGAAAAGGCTGAGAGTGAGTTATTGGGAGCTGAAGTTATAAGGAGATAGAATAGAGAATATAGACTATACTTAATCCCTTGAGAAGAAGCAACAATGGTCCTAGGAATTAAGAGAGGGTTGGATTCCTTCCTGATTGTTGTTGGAGAGGCCAAGACAGGGACGTAACAAGCTGGTCCTCCACAGCTGTGCTTCTTTGGCAACCTAAAGATGTTTCTGGCTCACAGTCCTGGCCAAACTGTGAAAAATGGAGCTGTCCACCAAAAAGTAGGAAATCTGCAATGGAAATAAGTAATGGACCTGGATGCCAAATTCAAAGATCACCGGATACAATGCAAAAACACCTAGTATTTCAGGATAGTAATTCTTCTACTTTATTTATGCATTCTTGACATATCCAAATACGTGAGTAAAAAGTAGAATTAACTGTCAGAAAAGAAGTACATTTTCAAATGCTCTCAGCCAGGGTTTAGTGGTTTCCAGGGGCTTTCTTTTCCTCCCAATAGGAATAGCACGCTGTTGGCCCCAGTGAAGTTGTTGTTTGTACAAAAACTTTTTCAAGAGTTCATGAAACAGAGTTGGTCAAACTAGCTCTCAAGATAAGGACCCTGCAAATGTTTATAAACATATGATCTGCATTACAGTTAGTCTTGGACAAAATGATCTCTATCAGATTTTGTCTCAAGTTTTTCCAACTCTTGACATTTGAATATTCTCTTTGCTCCAAATAAATTAATGTGCTAATAACAGCTTTTTGAAATAGAGTCAACAACAGAGATTATAGATGAACATTTATCTACTGTTATCATAACACTAGTACAATTTTAATAAAAAGGCTGGAAATAATATCCATTTAAATTAAATCAAGAAAAAAATAAGTTTACTTTTTCTGAGAAAGCAAACTGATAGTTTTTCTCTTTGATTTCCTTGCACTTTAGAACGAAGGGCAGCTATTAAACCTTTAAATAAACCTTTAAAATAAGCTATACTATATAGCAATATTTGGTTTAGACTTTAATGAGCCATTTTTGTTATTTTATAGGCACTTGAGGATGCTAATGCTTCCTGAGTCATAGACTCTTCTAGCACAGCCTTTCTGGGAATGCACATGCATTGTCAGACACCGTGGAAGAGTAGATGAACTGGGTTCCCGTATTGTCATTGATACCAATAAGCTCTGTGGTCCGCAACCTCTCTTGATCTTGATTTTCTTCGTTATAAAACTAAAGCACTCAGTGGGATCCATGTTTCTAATTTTTTGTTGTTCAGCCTTTAAATAACATTTGGAGCGCATCTGATTACATTAACTCATCCCCAGAATCTGTGGCCCATTAGTGGCAACCTCTGAACAACAGATTCTTTAAGGATCTCACTAAGCCTAAGACTGTATTATTCTAGTGTTAGAGCAAAGAGGGGGAATGGGAAGGAAAGACACAAGTACTACTTACTTTTCAAATACACGTCTGATAATCAGCAAGAGAAAAGCATATGGAATTGTCACGTATAAATGAGAAGGTTTTACAAAGACGAGTCCATCGTGATCCTCAAGATCTGACCACTTTATTGTTGGAGGAAGCCAGAATCTTTCCAACCAGAACCATTCTTTAAACGTCCAAAACATTCTAGAGAAATGGAAACAGACATTAGGCTTGTAAAACAAACACGTAACTTTAGGATAACATTGATCACCTTGGCTCAAAATGCCAGATCCAGAGAGCTTAGAAAATAAGGCAAGAGGCCTAGCGCAGTGGCTCACACCTGCAATATCAGCACTTTGGGAGACCAAGGCGGGCGGATCATGAGGTCAAGAGATCAAGTCCATCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTGGTCAGGTGTGGTGGTGCACACCTGTAGTCCCAGCAACTTGGGAGGCTGTGGCAGGAGAATAGCTTGATCCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCCACCTCAAAAAAAGAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAATAAGGCAAGAATGGAATACTATTATTTAATGGATTATATGATCCTTCATTGCATTAAACAGGAATTACTCTTCCATACCCTCAGGACAATTTTGTTTATGGAAAAACTCAAGTTTAACACATCACTATTCACACTTTTGGCAAAACATATGTGAATATTATGCACGTGTATTTTCTTTGTGTATGATTCTATGGTATAAAAAAATAACAATAGGCTTTACAACTTTAACATGCCAAAAGTCAATGTCCTGAAGGCTCCAGGTAGGTACAAATCATCACTAGTACCCTAAAAAATTCCCCAGGAAATAAGGGGCAGGCACGTTTCACTTCATATTACAAGGAGATCAAATTAGTCTATGTAAAGGAATATTTATTAAGATTCTGTTATTTGTGAAGAGCCGTGCTGAGCACTGAGGATAAAACAATTAATAAGACAGGCTTCCTGCCTTGAGGACATAATAGTCTCGTAAGCAAGGCAGGCCTGAACTCATGACTTCAACACATTTTTTTTTTTAGGTATGCTAAAAAACGTATACAGGTTGCTGTGGGAACAAGATGATGGGCACTGAGCCCAACCAGGAAATATCAGGGAAAGGTAACTGGAAGAAAAAGTCCTTGAGATATCTTGAACAATAAGTGGACATAAGCCAGGAAAGGCAGGAAAATGGGGAAGAAGGAATACAAGTTCTAAGCAGACAAAGTATTCAGACTACAATCAAGTAACCAGAGCATAGAATAATGTAAATTAGATGTTTTAATATCATTGTTTAGGCTGTGATCATTTTGGACTTGGGATTTTGACTTGAGGATGCATGAATTTCATCTTTTAATGTTTAATCAGAAAAAGGAATCAAAATGTCCTCAGATTCACAACAAGGTTGTCAAAATCACTCTGTCAAAACCTCTTAATCGGGAAATAACAAGGCGCACATAGAAAACTACCAGTGGGTTGGTACTACCACAGTGAATGAATCCAAGGTGTGGAATGGTAGGTTACAAATAAGTGCCCAGGCACTGCAGTGGATTGCCCTGGCATAATCAGTAACAGCTCTTCCTTCCTTTCAGAAGTATTCTGAAAGGAATACTTTGGACAATAAATCATATGATCACCCTCATTAAAATGCTGGTGGGACAAGCAGGCTAGGCCTTAGAGCGTTTGCTTGCATTCCATGCTAAGGAGTTTGGCATTTAGCTGATAGGACCCACTGAAGGGTATTATGAAGAGGAATGAGATGGTCAGCTATTTTAGAAAGGTCAATTTGGTAGCCAGCTCCTCTGTGAGCCCATAGGGTGTCTTTGTGCTGATTAGAGGAAGGTATTCTCTCTAGGCAGACACAGCTCTACCAAGCCCAAAATGATCAGTGGAATGAGGACTGGATTTCAAGCCCCCTCCCCACTTTGCTTCACCCGGGCACATGCCTGGCAGCTCTTCTGGCAGTGGTGTGAAGCATGCCTCAGGAGATGGAGAAACTAGAGGACAATCAGCTCACAGCAATAGATGCAGTCAGCAGAGAGAAGGTTTGGCCAGAGCAGTGGGGACCAGAGGGAATAACGCCATCTGTGG 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GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATCTCCCACTAATGATATAGAAGCCCTGGAAAAAAACATAAACTTATACTTCAAAAAGTATGACCTCTCTCCCTGTTAAATTTTCCTTCCTTCTATGGCATTAAAAGAGATATGGCATTAGTGAAGCAACACATAGTTTTCTGCAGCGTCACAATGGAAAAGGCTGAGAGTGAGTTATTGGGAGCTGAAGTTATAAGGAGATAGAATAGAGAATATAGACTATACTTAATCCCTTGAGAAGAAGCAACAATGGTCCTAGGAATTAAGAGAGGGTTGGATTCCTTCCTGATTGTTGTTGGAGAGGCCAAGACAGGGACGTAACAAGCTGGTCCTCCACAGCTGTGCTTCTTTGGCAACCTAAAGATGTTTCTGGCTCACAGTCCTGGCCAAACTGTGAAAAATGGAGCTGTCCACCAAAAAGTAGGAAATCTGCAATGGAAATAAGTAATGGACCTGGATGCCAAATTCAAAGATCACCGGATACAATGCAAAAACACCTAGTATTTCAGGATAGTAATTCTTCTACTTTATTTATGCATTCTTGACATATCCAAATACGTGAGTAAAAAGTAGAATTAACTGTCAGAAAAGAAGTACATTTTCAAATGCTCTCAGCCAGGGTTTAGTGGTTTCCAGGGGCTTTCTTTTCCTCCCAATAGGAATAGCACGCTGTTGGCCCCAGTGAAGTTGTTGTTTGTACAAAAACTTTTTCAAGAGTTCATGAAACAGAGTTGGTCAAACTAGCTCTCAAGATAAGGACCCTGCAAATGTTTATAAACATATGATCTGCATTACAGTTAGTCTTGGACAAAATGATCTCTATCAGATTTTGTCTCAAGTTTTTCCAACTCTTGACATTTGAATATTCTCTTTGCTCCAAATAAATTAATGTGCTAATAACAGCTTTTTGAAATAGAGTCAACAACAGAGATTATAGATGAACATTTATCTACTGTTATCATAACACTAGTACAATTTTAATAAAAAGGCTGGAAATAATATCCATTTAAATTAAATCAAGAAAAAAATAAGTTTACTTTTTCTGAGAAAGCAAACTGATAGTTTTTCTCTTTGATTTCCTTGCACTTTAGAACGAAGGGCAGCTATTAAACCTTTAAATAAACCTTTAAAATAAGCTATACTATATAGCAATATTTGGTTTAGACTTTAATGAGCCATTTTTGTTATTTTATAGGCACTTGAGGATGCTAATGCTTCCTGAGTCATAGACTCTTCTAGCACAGCCTTTCTGGGAATGCACATGCATTGTCAGACACCGTGGAAGAGTAGATGAACTGGGTTCCCGTATTGTCATTGATACCAATAAGCTCTGTGGTCCGCAACCTCTCTTGATCTTGATTTTCTTCGTTATAAAACTAAAGCACTCAGTGGGATCCATGTTTCTAATTTTTTGTTGTTCAGCCTTTAAATAACATTTGGAGCGCATCTGATTACATTAACTCATCCCCAGAATCTGTGGCCCATTAGTGGCAACCTCTGAACAACAGATTCTTTAAGGATCTCACTAAGCCTAAGACTGTATTATTCTAGTGTTAGAGCAAAGAGGGGGAATGGGAAGGAAAGACACAAGTACTACTTACTTTTCAAATACACGTCTGATAATCAGCAAGAGAAAAGCATATGGAATTGTCACGTATAAATGAGAAGGTTTTACAAAGACGAGTCCATCGTGATCCTCAAGATCTGACCACTTTATTGTTGGAGGAAGCCTGAATCTTTCCAACCAGAACCATTCTTTAAACGTCCAAAACATTCTAGAGAAATGGAAACAGACATTAGGCTTGTAAAACAAACACGTAACTTTAGGATAACATTGATCACCTTGGCTCAAAATGCCAGATCCAGAGAGCTTAGAAAATAAGGCAAGAGGCCTAGCGCAGTGGCTCACACCTGCAATATCAGCACTTTGGGAGACCAAGGCGGGCGGATCATGAGGTCAAGAGATCAAGTCCATCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTGGTCAGGTGTGGTGGTGCACACCTGTAGTCCCAGCAACTTGGGAGGCTGTGGCAGGAGAATAGCTTGATCCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCACGCCACTGTACTCCAGCCTGGCGACAGAGCAAGACTCCACCTCAAAAAAAGAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAATAAGGCAAGAATGGAATACTATTATTTAATGGATTATATGATCCTTCATTGCATTAAACAGGAATTACTCTTCCATACCCTCAGGACAATTTTGTTTATGGAAAAACTCAAGTTTAACACATCACTATTCACACTTTTGGCAAAACATATGTGAATATTATGCACGTGTATTTTCTTTGTGTATGATTCTATGGTATAAAAAAATAACAATAGGCTTTACAACTTTAACATGCCAAAAGTCAATGTCCTGAAGGCTCCAGGTAGGTACAAATCATCACTAGTACCCTAAAAAATTCCCCAGGAAATAAGGGGCAGGCACGTTTCACTTCATATTACAAGGAGATCAAATTAGTCTATGTAAAGGAATATTTATTAAGATTCTGTTATTTGTGAAGAGCCGTGCTGAGCACTGAGGATAAAACAATTAATAAGACAGGCTTCCTGCCTTGAGGACATAATAGTCTCGTAAGCAAGGCAGGCCTGAACTCATGACTTCAACACATTTTTTTTTTTAGGTATGCTAAAAAACGTATACAGGTTGCTGTGGGAACAAGATGATGGGCACTGAGCCCAACCAGGAAATATCAGGGAAAGGTAACTGGAAGAAAAAGTCCTTGAGATATCTTGAACAATAAGTGGACATAAGCCAGGAAAGGCAGGAAAATGGGGAAGAAGGAATACAAGTTCTAAGCAGACAAAGTATTCAGACTACAATCAAGTAACCAGAGCATAGAATAATGTAAATTAGATGTTTTAATATCATTGTTTAGGCTGTGATCATTTTGGACTTGGGATTTTGACTTGAGGATGCATGAATTTCATCTTTTAATGTTTAATCAGAAAAAGGAATCAAAATGTCCTCAGATTCACAACAAGGTTGTCAAAATCACTCTGTCAAAACCTCTTAATCGGGAAATAACAAGGCGCACATAGAAAACTACCAGTGGGTTGGTACTACCACAGTGAATGAATCCAAGGTGTGGAATGGTAGGTTACAAATAAGTGCCCAGGCACTGCAGTGGATTGCCCTGGCATAATCAGTAACAGCTCTTCCTTCCTTTCAGAAGTATTCTGAAAGGAATACTTTGGACAATAAATCATATGATCACCCTCATTAAAATGCTGGTGGGACAAGCAGGCTAGGCCTTAGAGCGTTTGCTTGCATTCCATGCTAAGGAGTTTGGCATTTAGCTGATAGGACCCACTGAAGGGTATTATGAAGAGGAATGAGATGGTCAGCTATTTTAGAAAGGTCAATTTGGTAGCCAGCTCCTCTGTGAGCCCATAGGGTGTCTTTGTGCTGATTAGAGGAAGGTATTCTCTCTAGGCAGACACAGCTCTACCAAGCCCAAAATGATCAGTGGAATGAGGACTGGATTTCAAGCCCCCTCCCCACTTTGCTTCACCCGGGCACATGCCTGGCAGCTCTTCTGGCAGTGGTGTGAAGCATGCCTCAGGAGATGGAGAAACTAGAGGACAATCAGCTCACAGCAATAGATGCAGTCAGCAGAGAGAAGGTTTGGCCAGAGCAGTGGGGACCAGAGGGAATAACGCCATCTGTGG 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Task1_train_21939 | This variant affects gene ALDH1A3 (aldehyde dehydrogenase 1 family member A3) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CAGAATGGCATCAATTACCGATGATCCTCTGCAGAGAATCATTCTCCCTTGATAGATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTG 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CAGAATGGCATCAATTACCGATGATCCTCTGCAGAGAATCATTCTCCCTTGATAGATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACATGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTG 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Task1_train_21940 | A mutation on Chromosome 15 affecting ALDH1A3 (aldehyde dehydrogenase 1 family member A3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Isolated microphthalmia 8 | GATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTGGGCACCCCCCGCCCTGAACCCTGTCCTTAAGTGTCAGTATCATCTTAGGAGCAG 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GATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGTGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTGGGCACCCCCCGCCCTGAACCCTGTCCTTAAGTGTCAGTATCATCTTAGGAGCAG 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Task1_train_21941 | A change on Chromosome 15 affects gene ALDH1A3 (aldehyde dehydrogenase 1 family member A3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Isolated anophthalmia-microphthalmia syndrome | TGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTGGGCACCCCCCGCCCTGAACCCTGTCCTTAAGTGTCAGTATCATCTTAGGAGCAGAGGCTACAAAGCCACCTTCATC 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TGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCTATATAGTAATACAGAAGCTAAGGGACTTCCGAATGTGTCCTTTATACATTGCAAGGCCATCAAATCTATTCTGAATGTCAGTGCAGAGGTAAAGCCCTTCCACTGAGGGCAGGGAGATGTAAATGTTTCCTTAGCTGCTGGAGTGCTGGACTGATGTTCTTGGTCAGCAAACTGATGACGTTGGAAGTGGATGCAGTGAAGGGCGTGTGCAGAGTAGGCTTGGATTTTATCTTGCCCATGAGTTTTTGTGACAGACGTGCAAATGCACACTGGCCCCACCTATACAGACCCCCCTCTGTGTGGCACCTCATGACAGTTAGGCTCTGCTAACAAAGAAAGTGGCACAGAGGAGCTCATAGAAAAATGTGAGGGCATTGGGGGGAAGCCATGACATGGAATGGGGTTTCCACTAGGAGACTCCCAAGTGCCCCGTACAGGTGCTAGGAGGAGAACGAGACCCTTGCCCTGGGCCTTGATTTCTCCCTTGGTCTGAGTGACTGTTCTGAGCCAGAGGCCACCACACCCTCTGCAGCTGGAAAGGTCCTGGCCTCCACCCCAGAGCCTGGGAGAAGAAATTCAGTGTCCCACATCTCCCCTGCCAAGCTTCTGCTCACCCCCAAGCCAGCTCTGGACACACAGAGACTCGGTAGAGTCACTCCTGACTGGTGTCCCACATCCACTCCCTGCTGTACCTTCCTAGAAAGAGAGAGGCATGGAGGGGCCTTCGAGATGAATGTGGCCCATTTTCCTGAGAAAAAGAGACAGTGACACTACTCTAAATGGCCCTCACTTCTTTCCTTTTAGAAAGAAGGTTCCGTTGTGATTATTCTATCAGTGCACAAAAGATCCAGTTCTGCTCCCATGGGGTGGGTGAGGCTGAAGGGAGAAAAACGGCCTTCATGCTCCTCCCTGTCTGCGAACTGTTCCACGATGGTCAGTTCTGCAATCCAGAAAGGAAGGAATTTCCCCATTCTCACTCTTGGACCACAAGTTCCCAGCTGGGATCAAATGCCAGGCAGACACTTCCCACCTGATCTGTGAACAGCAGGCTCGTGTGCGTTCACACTGAGGCAGCCAGTGGAAAGTCCTTCCGTACTTGGGTCCCTGAGAAAAATACTCTTTAGGAAATATTTTTAAATGCTTTTTATAATCAGAAACAAACATTGGTATTTGGCCACTGTAGAAATATTAAGATGTAAAGAAGAAAAAAAATCACTTGAACGCTCCCAGCCATTCAAGTGATTGAAAAACATGCTGCTGCTTGCAGCCTGTCTGCCAGCGGGACAATCTGCTGTTCTCTATAACTGATGGCCGTGGTCCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACAGTCTCTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCATGGGCGGCTGCTGCACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGTGAGTACATGCACTTGGGGGCCGGTGGGGGATGAGCCAGCCTCACTGAGGGTCCTGTCCACCATGGGGTATGGGAAAAAAGATCACGGTCCTGGTTTTGTGTGGTCGTGGGTCTGTTCCATCCTCTGAGACACGGCTCTCTGGCAATACTTGCAGGTGTTAATGCCTCTAGACTGAATCCCTTTCATTTTGAAGTCAGACTTTTGTCCTCTGCAGCTCAGCTTCTTGACCAAGTTGTTGTCTATAGGCAGTTGAGCTACATCAGTGGTCTCAGACTTGGGGCACTCACAGATTGGTGACCATGAGCTGGGCCATATCCTGGTACCACCTGTGTGTTTATGTACTTAACTTTTTTCTTTTTTGTATAAACTTCCTTTTATTTATTTTATTTTATTTATTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTAAAATGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTATATTTGTAACAGAGACAGGGTTTCATCATGTTGGCCAGGTCTTGAACTCCTGGTCTCGAACTCCTGGCCTCAGGTGATCTACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCCAGCCTTAACTCCCTTTTAAACTTAAGTTTAATCTCATCCTAAGAAACAATATTCATGAAATCACAGGTTTGATGTGCTAATTTTATTTTTCTAATACTTACCAAAATAAATGCCACCACTTAACATAGAAAAAATTGTTCCCATGTGACCTAAAATCATTCCTCAGTCACCCCTGAACTGGCTAGTAGCGAGCATATGTGGAGCGGTGGTGAGGGCAGGATAGCCTGGTTATAGGAAACCTCAGAATAGGAAAGACCTGGGTTCAAATCCCCACTCTGCCACTTACTAGCTGTGTGACTTTGGACAAGTTGTGAAACCTCTCTGAGATTTATTTCTTCATGTAAAATGTCACCGATAATGATAACTCAGTGGTGTAAGAATGATCTATTTAAGATTCTAGGCAGAGTCCCTGGCAGGCAGTAAGCACTAAATAGATGACAGCTATCATTAATAATAGCAGTTATCATAATGAGGTCATGTGAAGACCCATTTTCTAACCTCACCTACATGCACTGCTGGCCAGTAATTTCTAGATACCCTAGGTGGGGATATTGATGGAGCATACCCCATGAGGCTGAGCTGCCAAGGCATTCATCAGTTGTAAGTCCATTTTTTAGCAGGATCCTCAGACCCTCCTCTGGTCATGAGGGAGTGATCAGAGGACATCTCAGGGCCACGTTGGGCCATGAGGTCCTTTGCATCCTGTCCTTGCCCATCTCAGCCTCTTGTTTTTAAAAGTTGTTCCAAACCTTGAGGCCCGGTTGTAGGGGAGGAGATCTCCTTTCTGGCCTTTGATTTGGAAAAATGGTTTTTCTGATGTCGGGAACAAGCAGTAGGGTAGCCACTGTTTAAAGGAGGGTGTCAGCCAGGACACGGAAATTGCTGTTGCCCCTGAATGTGTTTCTCAGGGTGGAGGAACTCTCAGGCCGTACTCTTGGGTGCATTTCCCTAAGGGTGCATCCACACAGAAACTCGAGCTCCCCTTCCTTCCTTCCCAGTCAGCCCGGCCAGTCCACATGTTCCCCGGGTGAGAGTAGCTCCCTCCCAGGGTAAGCGCTTCTCTCTGAGGAGCCTCTGGTTTCTTCCTGCAACGTAAGCCAGCGTCAACCCTCAAGCTGCCAAACTGGCTTTTTCAAAAACATTTCTGTTTTCACCCGGCATGAGCTCATCGGTCGGCAATGTCCGTGTGGACTAATAGCAGGCTAGAGAGGATGTGCCCTGGGCACCCCCCGCCCTGAACCCTGTCCTTAAGTGTCAGTATCATCTTAGGAGCAGAGGCTACAAAGCCACCTTCATC 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Task1_train_21942 | This gene mutation involves ALDH1A3, ALDH1A3-AS1 (aldehyde dehydrogenase 1 family member A3| ALDH1A3 antisense RNA 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Isolated anophthalmia-microphthalmia syndrome | CTCCAAAGCCCCTGTGCTCTGTCGCAGTGGAACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACCATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATCAAAGAGGTGAGACATCCAAAAAGAAAATATCACATGTTCTTGGTAACATTCCCACTCCTAGGAACCAGGCCACCGTCACGAGATGGGACAGTGGCAGACTGCTGGCAATCGAGTGGGAAGGGAATGACTTCCAGTGTTTTGTTTGGCGACTGCACGTTCTTTCTCCTGCTTGTGGCCACTGAGCTGGAGAAACTCCATTCCTCCCAGTGGTCCTAATGAGAATGCTTAACTCTTATTATGGGCTCAAACCTATGGTTGAGGACCCAGTGGTTTGTCTAGAGAATTTTCAGGGGGGGTCAACCAAGAGGGAGCCAAATATTTGGGAGGTTCTCTGGGATTTGCATTCTCAGTTTATGAAATGGTCCATTTTTCTCTGGAGAGGTGGCCTCGTCAGCTCTAGCTGGGCGGCTGCAGCAGTCCGTGTGCCGGGTCCCTGCTAATCAGTGCCCTCTGCTCTGAATGCAATCTCTTCTCCCTCAGGCAGCCAGAACTTAGGGAAACAGAGGCTCAATGGGACACCTCCTTCCAGACATACCTTTAGTCATTCCATCCCCAGGTTGTATGGAGCAAAGATTTAGAGAAAGCAACAGGAAGCAAAGAGGGACAGAAGAAAAGATCCATTCCTTTCTCTTCTTAGTCGGGCTGATATGACCGGCAGGCAGGTCCACAGTTGCTTAGAAGCAAGGTGGGAACAGCTGGTGATGAGCCAATTTTCCACTTTCCTTTGGTGATGTGGGGCATAATTAAGTCACACTGGTGAGACTTAGGAATGTGAAAATCCCAACTGTTAAGAAACAGTGCCTAAAAATCTAAAGACTCAAGCAGCGTGCCTAAAATCTTGATTTTCTGAAATAATGTGTTCTAAGTAAGACTCAGCACAGGTGGGGAAGAGCATCCTCCACCTCGTTTGTTTTGTGTTCTCGCCTGATAAAGAGGCTTAGTATATGAAAAACACGAGGCATGAACGTGAACGAGGTGGCAGTCCCTGCCTTCCAGAAGGGCTTGCTCCAGGTGAGACCCAGGTTGAACAAGCAAAGAACTTTAAGGGAGTGATACCCTGTCACCATTTGGAATAATAACGGGTCTGATTAAAAAATGAAAACTGGGCTCACGCCTGTAATCCCAGGACTTTGGGAAGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTTAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATCGCGCCACTACACTCTAGCCAGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAGAAGAAAAAACAAAACTGAAGCTCTTGGCAGATATTTTGCAGGTGCCTCTGATCCTGGGCAGGGCATTCTGATCAAGGTACCCCTCTCCCCTTAACGCATACACACACTCTCCCTCACACACACACACACCCCACATGGAAAGGTGCTGTGCTACAGGCGGGCCATGGCCACCTTGAAGCATAACCACACATTTGCACTGCATATCACTTTGGGATGGGGTCCCCCCCCAGAAGGAGAAGTGGGCATCTCCCCTTGCCCAGCCTGCACACTGGGCTGGCAGCAGGGGATGAGAAGCCCAGGTCAGCTCCCAGGGTGCCCACGGTCAACTGCTTCTGGGTCCTGGGTAAATCCAGCCCGGCCCGGGTTCCCTGTGGGGATGTGAGGCAGCCACGGCTCTCTCGGCCCAAATGTGGATCCGTGGTGGATGAAGTCCGTTCTTCTTCAAGTGCTATCTTGATTTCTTCCCAGGCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCGGGCCCACAGTGGGAGCAGCAATTTCTTCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAGGTAACCCTCCTCACAGGGTGCTGGGGAAAGTGAAAGGGGCGTGTTATTTGACACCCGTGAGCTTTTCCTTTGACAGGCTTTAATATGATTTGTTTTTCTTCTAAATTTGACCATGTTTTAGTACATAACAACCAGTTAAAAAAAGTCACTGGTCTAGTTTCCAAACTAAATAAATATCTAATAGAACTCAGAAGCCTTAGAAGAAAAGATTGAGAGATAAGATAAAGTAGAAATGTAAAATATTCATCTGTCAAACACCATAATTAAGATTAAGAGATAAATAACAAGCTCAGAGAAAAATAGTCGTGATGCATGCAGTGCTCCAAGAATTTATATCCGTCATATGCAAAGTGCTCCTACAAGTCAATGAAAAAAAAAAACCAAACTGAATGGTAGAAAAATGGGCAGTTCAGAGAATAGAAATACGACGTGCCCATTAAGCTTAAACTAGTTTGCTGGTAATCAGGAAAATGCAAATTCAAACAAAATCAGACTTTCCTTTTGCCTGCCAGATTGCTAAGAACTGAAATGATACTGCTGAGAATATGGGGAAGCAGGTGCTCAGCGACACTTGCCCTAAGATGCACAGTGTTTTGGTAGCACTCATCCAACATTTAAAGTGAAAAACTTTTCGATTCAGAAGCTCCATTTCAAAAAAAGAAAAAACTACTTAGAGAAATTTTCTCATGAGGCTTCAGGGACATATTTTCAAGGATATTATATTCATTCTCTGGAATGTTTTACAGCCGTTACAACAAGGAAAGCTGTCCATGATCTATTGTTGAAGCACAAAACAGCAAACGGTAGAAAATTACCCACAATATTTTCCCATTCGTAGAGGTGTGTGCTTGTAGAAGTAGAAATTATCTGGAAGGATTCCCAAGAAATCCTTACTGATGGCCACCTATGGGGTGGGCTCGGGGCAGAGCCGGAGGGAAGCTGAAGGCTTTCTCCCTGTAATTCACATACATCTCTATGTGGAATTACTTTTAATGAGAAAGTATTTCTTCTGTACTTAAAAAAGAAAAAAACACCCGCTGCAATCAGTGTCCCCATCCCCCTCCTTAGTTAGTCCAAGCCCTGGTGGATGCTGTTACTCTCCTTGGAGACAGACACTGCCCTGTGGATGGATTCCAGACCTCATTCAGCCATCACCCATGAGCTTGCTGATGTTTAAAATGCGCTCACACCTTAGCATTGGAGAAAACAGTCTCAGACCCGGAAGAGCCTGGGCCGCGCCTTGCTAGCTTCTGGCTCTAGGCCTCCGTGTCTGCACTGGTCTCTGAGGATCTTCCCAGCTCTGAAGTTCGTGGTGCTGGGCTTTACTTGTTGCCCTAGATAAGTCACCGAGTCATGCTGGGCCAGCCCTCCCCTCCAGGGGTACAGTGGGCAATGGGAGAGACCCCGTGGGGGCCTTGAGCATGACTGGTGAGTGGCTTTTCTGCTCATAGCGCACCCCTTCACTCCCTGCCTGTCTGCGGCAGCCTCAGTCTTAGAGTGTGTTTCCAGAGAATCGGCTCCTTCTCATCCGGAAGGCTGGCTGCCCTCGCTACTTCTCTAACACTTGGAGGTTCCCTCAGATCACACCAAAGAGCCACACAGAACCACCCCCCTACTGGGCTGTTGGAATTTCAGCTGTTTCTAGTGAGAGGTAGAAGAGTCACCCTGCGGTCCCTGAAGCCCTTTACCAGACTGGCTGGACCAGCCTGCTGGGCTCAGAAGGACAGGCACCAGGACAGGTTAGCGGGTGGCAGCCCTGTTCCCAGCCAGCTGTGTGGGCTTCCAGAGGCTCTAACTCACACCTGTAAGTGGAGCGGCTTAGACCAAGGATCCCAGGATGTCATGGTCTGGCATGGGAGGAGATGCTGGCAGAGGCCAGGACAGTGAAGGGACGGCATCGGGGCCTGGAGCGCCTGGGCCGAGAGCCAGGTGGTGGCACTGCCACCCGGGCTTGATCAGAATGTTCACTGATGTTT 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CTCCAAAGCCCCTGTGCTCTGTCGCAGTGGAACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACCATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATCAAAGAGGTGAGACATCCAAAAAGAAAATATCACATGTTCTTGGTAACATTCCCACTCCTAGGAACCAGGCCACCGTCACGAGATGGGACAGTGGCAGACTGCTGGCAATCGAGTGGGAAGGGAATGACTTCCAGTGTTTTGTTTGGCGACTGCACGTTCTTTCTCCTGCTTGTGGCCACTGAGCTGGAGAAACTCCATTCCTCCCAGTGGTCCTAATGAGAATGCTTAACTCTTATTATGGGCTCAAACCTATGGTTGAGGACCCAGTGGTTTGTCTAGAGAATTTTCAGGGGGGGTCAACCAAGAGGGAGCCAAATATTTGGGAGGTTCTCTGGGATTTGCATTCTCAGTTTATGAAATGGTCCATTTTTCTCTGGAGAGGTGGCCTCGTCAGCTCTAGCTGGGCGGCTGCAGCAGTCCGTGTGCCGGGTCCCTGCTAATCAGTGCCCTCTGCTCTGAATGCAATCTCTTCTCCCTCAGGCAGCCAGAACTTAGGGAAACAGAGGCTCAATGGGACACCTCCTTCCAGACATACCTTTAGTCATTCCATCCCCAGGTTGTATGGAGCAAAGATTTAGAGAAAGCAACAGGAAGCAAAGAGGGACAGAAGAAAAGATCCATTCCTTTCTCTTCTTAGTCGGGCTGATATGACCGGCAGGCAGGTCCACAGTTGCTTAGAAGCAAGGTGGGAACAGCTGGTGATGAGCCAATTTTCCACTTTCCTTTGGTGATGTGGGGCATAATTAAGTCACACTGGTGAGACTTAGGAATGTGAAAATCCCAACTGTTAAGAAACAGTGCCTAAAAATCTAAAGACTCAAGCAGCGTGCCTAAAATCTTGATTTTCTGAAATAATGTGTTCTAAGTAAGACTCAGCACAGGTGGGGAAGAGCATCCTCCACCTCGTTTGTTTTGTGTTCTCGCCTGATAAAGAGGCTTAGTATATGAAAAACACGAGGCATGAACGTGAACGAGGTGGCAGTCCCTGCCTTCCAGAAGGGCTTGCTCCAGGTGAGACCCAGGTTGAACAAGCAAAGAACTTTAAGGGAGTGATACCCTGTCACCATTTGGAATAATAACGGGTCTGATTAAAAAATGAAAACTGGGCTCACGCCTGTAATCCCAGGACTTTGGGAAGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTTAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATCGCGCCACTACACTCTAGCCAGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAGAAGAAAAAACAAAACTGAAGCTCTTGGCAGATATTTTGCAGGTGCCTCTGATCCTGGGCAGGGCATTCTGATCAAGGTACCCCTCTCCCCTTAACGCATACACACACTCTCCCTCACACACACACACACCCCACATGGAAAGGTGCTGTGCTACAGGCGGGCCATGGCCACCTTGAAGCATAACCACACATTTGCACTGCATATCACTTTGGGATGGGGTCCCCCCCCAGAAGGAGAAGTGGGCATCTCCCCTTGCCCAGCCTGCACACTGGGCTGGCAGCAGGGGATGAGAAGCCCAGGTCAGCTCCCAGGGTGCCCACGGTCAACTGCTTCTGGGTCCTGGGTAAATCCAGCCCGGCCCGGGTTCCCTGTGGGGATGTGAGGCAGCCACGGCTCTCTCGGCCCAAATGTGGATCCGTGGTGGATGAAGTCCGTTCTTCTTCAAGTGCTATCTTGATTTCTTCCCAGGCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCAGGCCCACAGTGGGAGCAGCAATTTCTTCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAGGTAACCCTCCTCACAGGGTGCTGGGGAAAGTGAAAGGGGCGTGTTATTTGACACCCGTGAGCTTTTCCTTTGACAGGCTTTAATATGATTTGTTTTTCTTCTAAATTTGACCATGTTTTAGTACATAACAACCAGTTAAAAAAAGTCACTGGTCTAGTTTCCAAACTAAATAAATATCTAATAGAACTCAGAAGCCTTAGAAGAAAAGATTGAGAGATAAGATAAAGTAGAAATGTAAAATATTCATCTGTCAAACACCATAATTAAGATTAAGAGATAAATAACAAGCTCAGAGAAAAATAGTCGTGATGCATGCAGTGCTCCAAGAATTTATATCCGTCATATGCAAAGTGCTCCTACAAGTCAATGAAAAAAAAAAACCAAACTGAATGGTAGAAAAATGGGCAGTTCAGAGAATAGAAATACGACGTGCCCATTAAGCTTAAACTAGTTTGCTGGTAATCAGGAAAATGCAAATTCAAACAAAATCAGACTTTCCTTTTGCCTGCCAGATTGCTAAGAACTGAAATGATACTGCTGAGAATATGGGGAAGCAGGTGCTCAGCGACACTTGCCCTAAGATGCACAGTGTTTTGGTAGCACTCATCCAACATTTAAAGTGAAAAACTTTTCGATTCAGAAGCTCCATTTCAAAAAAAGAAAAAACTACTTAGAGAAATTTTCTCATGAGGCTTCAGGGACATATTTTCAAGGATATTATATTCATTCTCTGGAATGTTTTACAGCCGTTACAACAAGGAAAGCTGTCCATGATCTATTGTTGAAGCACAAAACAGCAAACGGTAGAAAATTACCCACAATATTTTCCCATTCGTAGAGGTGTGTGCTTGTAGAAGTAGAAATTATCTGGAAGGATTCCCAAGAAATCCTTACTGATGGCCACCTATGGGGTGGGCTCGGGGCAGAGCCGGAGGGAAGCTGAAGGCTTTCTCCCTGTAATTCACATACATCTCTATGTGGAATTACTTTTAATGAGAAAGTATTTCTTCTGTACTTAAAAAAGAAAAAAACACCCGCTGCAATCAGTGTCCCCATCCCCCTCCTTAGTTAGTCCAAGCCCTGGTGGATGCTGTTACTCTCCTTGGAGACAGACACTGCCCTGTGGATGGATTCCAGACCTCATTCAGCCATCACCCATGAGCTTGCTGATGTTTAAAATGCGCTCACACCTTAGCATTGGAGAAAACAGTCTCAGACCCGGAAGAGCCTGGGCCGCGCCTTGCTAGCTTCTGGCTCTAGGCCTCCGTGTCTGCACTGGTCTCTGAGGATCTTCCCAGCTCTGAAGTTCGTGGTGCTGGGCTTTACTTGTTGCCCTAGATAAGTCACCGAGTCATGCTGGGCCAGCCCTCCCCTCCAGGGGTACAGTGGGCAATGGGAGAGACCCCGTGGGGGCCTTGAGCATGACTGGTGAGTGGCTTTTCTGCTCATAGCGCACCCCTTCACTCCCTGCCTGTCTGCGGCAGCCTCAGTCTTAGAGTGTGTTTCCAGAGAATCGGCTCCTTCTCATCCGGAAGGCTGGCTGCCCTCGCTACTTCTCTAACACTTGGAGGTTCCCTCAGATCACACCAAAGAGCCACACAGAACCACCCCCCTACTGGGCTGTTGGAATTTCAGCTGTTTCTAGTGAGAGGTAGAAGAGTCACCCTGCGGTCCCTGAAGCCCTTTACCAGACTGGCTGGACCAGCCTGCTGGGCTCAGAAGGACAGGCACCAGGACAGGTTAGCGGGTGGCAGCCCTGTTCCCAGCCAGCTGTGTGGGCTTCCAGAGGCTCTAACTCACACCTGTAAGTGGAGCGGCTTAGACCAAGGATCCCAGGATGTCATGGTCTGGCATGGGAGGAGATGCTGGCAGAGGCCAGGACAGTGAAGGGACGGCATCGGGGCCTGGAGCGCCTGGGCCGAGAGCCAGGTGGTGGCACTGCCACCCGGGCTTGATCAGAATGTTCACTGATGTTT 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Task1_train_21943 | A variant found in Chromosome 15 affects ALDH1A3, ALDH1A3-AS1 (aldehyde dehydrogenase 1 family member A3| ALDH1A3 antisense RNA 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Isolated microphthalmia 8 | TTCATTTTCTGCCTAACACATAGTAGGGGCTCTACATGATTATCTGTAATTGTTATAATTACAAGGAGGTGATGGTTTTCCTATTTGATAGTTGATGAAGTTGAGGCTCAGGGAAGGCAAAGAACTTACCTAAGCAACATAGTTCTAAGCCAGTGGTTCTCCAACTTGAGTATGCATCAGAATCACTTGGAGGACTTGTTAAAATACAGATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAGATGTCTGGGCCCCACCATAGAGTTTCTGATTCAGTAAGTTTATTAGTCTTTTATTGCTCCTGCAAGAAGTTACCATAACATCAGTGGCTTAAATAACATAAATCTATTATCTTATAGTTCTGTAGGATAAAAATCTGACACAGGTCTCCCTGAGCTAAAATCAAGGGCTTCATTCCTTTTTGGAGGTTCTCAGGAGAGAATCTACTTCCTTGCCTTTTCCATCCTCTAGAGGCTGCTCGCATTCCTAGGCTGGTGGCCCCATCCTCCATCTTCAAAGCCAGCACTGCTGCTCTCTGAACCTGTTTCTATAATCTCATTTTGCTCTGCCTCTCTTCTTCTGCCAGTTTTGGGGACCCTTGTGATTACACTGGGTCTGCCTGGATGATCCAGGAGAGTCTCCCTCTTTTAAAGTCAATTGATTAGTAACTTGAATTCCATCTGCAACATTAATTCTTCACTCTGTAGCCCAACATATTCACAGGTTTGGGGGATCCAATTTTGGATACCTGGGGAGATCCTTATTCTGCCTACGATAGTAGGGCTGGGGGAGGCCTGAGAATCTACATTTCTAGCAAGTTCAGAGGTGAGGCTGATGCTGCTGGTCTGGGGACCACACTTTGAGAACCATTGATCTAAGGGAGGAGATGGGATTCTGTCACAGGTCTTTTTAACTACAGAGACTCCAGTGGCCACCTCTACCTTCATCTCTTCCTAAACAAGCACACATTTTTCTTCACCTGACAGCAGATCAAGCGCTTAGAAGGATTTAAATCTCTCCAAAGCTGCCTCTTGGGTCTTGGAAGGGAAGCTACCCTGAAGACGGCCCATGGTGCCAGGGAAGGATCACCTGAGCCCTGCAAGATTTAAAGAAAGGAACTATACCAAGGATGTGAACCCAAAAGCTGTGGCCTCCCCATGTCCACTCTGTGCTAACGTCTGCTTCTCTCATGCCCCCTAGGCTGGCCTCACTGCCTGACAGCTGGTCCCCAGCTGTGCACTCTGAGGCCAGCTTCAGGCCCTTGGTGTTCTTCCCACTGGTCCTCTGGCCACATCCCCAGCCAATAGCTTTGGGCCTCTGCCTCTTCTGTCTCCTCTTCAAGCAGCTCCCAATTGCCATCTAAAAGTTATCAACCCAGTGTAATTTCTGCCCCTCCCTCGTTCACAGACACCCCACCGTCCACCAGGCTCTCTCGTTTTGCTCTCTATTGCCACCCCAGGGAATTCACCTCTTTACTTTTTTTAAAATCCCCTTCATTCTCTAAAGGGAAACCCTTAGTCCTGGCCATTTCAAAAGCATCACACAGAAGAAGACCTTGATATTTACATTTAAGTCACATATGCAGCTACTGACACTTACTAGTGCTGTTATAGTCCTGGCTATTATTCCATGAGGTCGTCACATTTTAACCTTTTGCATAAGCCTCCAACGGCCTGATGGAATGATGAAGCCTCAGAACAGTTTCTACACAATGGCTAAGGGATGTACCCATTTTGAATTTTCCTCTTTTCTGTGATCACAGAGGTGAATACGCTTTGGCCGAATACACAGAAGTGAAAACTGTCACCATCAAACTTGGCGACAAGAACCCCTGAAGGAAAGGCGGGGCTCCTTCCTCAAACATCGGACGGCGGAATGTGGCAGATGAAATGTGCTGGAGGAAAAAAATGACATTTCTGACCTTCCCGGGACACATTCTTCTGGAGGCTTTACATCTACTGGAGTTGAATGATTGCTGTTTTCCTCTCACTCTCCTGTTTATTCACCAGACTGGGGATGCCTATAGGTTGTCTGTGAAATCGCAGTCCTGCCTGGGGAGGGAGCTGTTGGCCATTTCTGTGTTTCCCTTTAAACCAGATCCTGGAGACAGTGAGATACTCAGGGCGTTGTTAACAGGGAGTGGTATTTGAAGTGTCCAGCAGTTGCTTGAAATGCTTTGCCGAATCTGACTCCAGTAAGAATGTGGGAAAACCCCCTGTGTGTTCTGCAAGCAGGGCTCTTGCACCAGCGGTCTCCTCAGGGTGGACCTGCTTACAGAGCAAGCCACGCCTCTTTCCGAGGTGAAGGTGGGACCATTCCTTGGGAAAGGATTCACAGTAAGGTTTTTTGGTTTTTGTTTTTTGTTTTCTTGTTTTTAAAAAAAGGATTTCACAGTGAGAAAGTTTTGGTTAGTGCATACCGTGGAAGGGCGCCAGGGTCTTTGTGGATTGCATGTTGACATTGACCGTGAGATTCGGCTTCAAACCAATACTGCCTTTGGAATATGACAGAATCAATAGCCCAGAGAGCTTAGTCAAAGACGATATCACGGTCTACCTTAACCAAGGCACTTTCTTAAGCAGAAAATATTGTTGAGGTTACCTTTGCTGCTAAAGATCCAATCTTCTAACGCCACAACAGCATAGCAAATCCTAGGATAATTCACCTCCTCATTTGACAAATCAGAGCTGTAATTCGCTTTAACAAATTACGCATTTCTATCACGTTCACTAACAGCTTATGATAAGTCTGTGTAGTCTTCCTTTTCTCCAGTTCTGTTACCCAATTTAGATTAGTAAAGCGTACACAACTGGAAAGACTGCTGTAATAACACAGCCTTGTTATTTTTAAGTCCTATTTTGATATTAATTTCTGATTAGTTAGTAAATAACACCTGGATTCTATGGAGGACCTCGGTCTTCATCCAAGTGGCCTGAGTATTTCACTGGCAGGTTGTGAATTTTTCTTTTCCTCTTTGGGGATCCAAATGATGATGTGCAATTTCATGTTTTAACTTGGGAAACTGAAAGTGTTCCCATATAGCTTCAAAAACAAAAACAAATGTGTTATCCGACGGATACTTTTATGGTTACTAACTAGTACTTTCCTAATTGGGAAAGTAGTGCTTAAGTTTGCAAATTAAGTTGGGGAGGGCAATAATAAAATGAGGGCCCGTAACAGAACCAGTGTGTGTATAACGAAAACCATGTATAAAATGGGCCTATCACCCTTGTCAGAGATATAAATTACCACATTTGCCTTCCCTTCATCAGCTAACACTTATCACTTATACTACCAATAACTTGTTAAATCAGGATTTGGCTTCATACACTGAATTTTCAGTATTTTATCTCAAGTAGATATAGACACTAACCTTGATAGTGATACGTTAGAGGGTTCCTATTCTTCCATTGTACGATAATGTCTTTAATATGAAATGCTACATTATTTATAATTGGTAGAGTTATTGTATCTTTTTATAGTTGTAAGTACACAGAGGTGGTATATTTAAACTTCTGTAATATACTGTATTTAGAAATGGAAATATATATAGTGTTAGGTTTCACTTCTTTTAAGGTTTACCCCTGTGGTGTGGTTTAAAAATCTATAGGCCTGGGAATTCCGATCCTAGCTGCAGATCGCATCCCACAATGCGAGAATGATAAAATAAAATTGGATATTTGAGAAACATTGTGCTTTTTCATTTAAAGACCAAAGTCATTTGAATTCGATGGCAGGCCTTTCTCTTTCTGAGACCTGTACGAAATGGCTGATATTAAAGCAGGATCAATAATGTAAGCATAAAATTACATTTGCTCAG 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TTCATTTTCTGCCTAACACATAGTAGGGGCTCTACATGATTATCTGTAATTGTTATAATTACAAGGAGGTGATGGTTTTCCTATTTGATAGTTGATGAAGTTGAGGCTCAGGGAAGGCAAAGAACTTACCTAAGCAACATAGTTCTAAGCCAGTGGTTCTCCAACTTGAGTATGCATCAGAATCACTTGGAGGACTTGTTAAAATACAGATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAGATGTCTGGGCCCCACCATAGAGTTTCTGATTCAGTAAGTTTATTAGTCTTTTATTGCTCCTGCAAGAAGTTACCATAACATCAGTGGCTTAAATAACATAAATCTATTATCTTATAGTTCTGTAGGATAAAAATCTGACACAGGTCTCCCTGAGCTAAAATCAAGGGCTTCATTCCTTTTTGGAGGTTCTCAGGAGAGAATCTACTTCCTTGCCTTTTCCATCCTCTAGAGGCTGCTCGCATTCCTAGGCTGGTGGCCCCATCCTCCATCTTCAAAGCCAGCACTGCTGCTCTCTGAACCTGTTTCTATAATCTCATTTTGCTCTGCCTCTCTTCTTCTGCCAGTTTTGGGGACCCTTGTGATTACACTGGGTCTGCCTGGATGATCCAGGAGAGTCTCCCTCTTTTAAAGTCAATTGATTAGTAACTTGAATTCCATCTGCAACATTAATTCTTCACTCTGTAGCCCAACATATTCACAGGTTTGGGGGATCCAATTTTGGATACCTGGGGAGATCCTTATTCTGCCTACGATAGTAGGGCTGGGGGAGGCCTGAGAATCTACATTTCTAGCAAGTTCAGAGGTGAGGCTGATGCTGCTGGTCTGGGGACCACACTTTGAGAACCATTGATCTAAGGGAGGAGATGGGATTCTGTCACAGGTCTTTTTAACTACAGAGACTCCAGTGGCCACCTCTACCTTCATCTCTTCCTAAACAAGCACACATTTTTCTTCACCTGACAGCAGATCAAGCGCTTAGAAGGATTTAAATCTCTCCAAAGCTGCCTCTTGGGTCTTGGAAGGGAAGCTACCCTGAAGACGGCCCATGGTGCCAGGGAAGGATCACCTGAGCCCTGCAAGATTTAAAGAAAGGAACTATACCAAGGATGTGAACCCAAAAGCTGTGGCCTCCCCATGTCCACTCTGTGCTAACGTCTGCTTCTCTCATGCCCCCTAGGCTGGCCTCACTGCCTGACAGCTGGTCCCCAGCTGTGCACTCTGAGGCCAGCTTCAGGCCCTTGGTGTTCTTCCCACTGGTCCTCTGGCCACATCCCCAGCCAATAGCTTTGGGCCTCTGCCTCTTCTGTCTCCTCTTCAAGCAGCTCCCAATTGCCATCTAAAAGTTATCAACCCAGTGTAATTTCTGCCCCTCCCTCGTTCACAGACACCCCACCGTCCACCAGGCTCTCTCGTTTTGCTCTCTATTGCCACCCCAGGGAATTCACCTCTTTACTTTTTTTAAAATCCCCTTCATTCTCTAAAGGGAAACCCTTAGTCCTGGCCATTTCAAAAGCATCACACAGAAGAAGACCTTGATATTTACATTTAAGTCACATATGCAGCTACTGACACTTACTAGTGCTGTTATAGTCCTGGCTATTATTCCATGAGGTCGTCACATTTTAACCTTTTGCATAAGCCTCCAACGGCCTGATGGAATGATGAAGCCTCAGAACAGTTTCTACACAATGGCTAAGGGATGTACCCATTTTGAATTTTCCTCTTTTCTGTGATCACAGAGGTGAATACCCTTTGGCCGAATACACAGAAGTGAAAACTGTCACCATCAAACTTGGCGACAAGAACCCCTGAAGGAAAGGCGGGGCTCCTTCCTCAAACATCGGACGGCGGAATGTGGCAGATGAAATGTGCTGGAGGAAAAAAATGACATTTCTGACCTTCCCGGGACACATTCTTCTGGAGGCTTTACATCTACTGGAGTTGAATGATTGCTGTTTTCCTCTCACTCTCCTGTTTATTCACCAGACTGGGGATGCCTATAGGTTGTCTGTGAAATCGCAGTCCTGCCTGGGGAGGGAGCTGTTGGCCATTTCTGTGTTTCCCTTTAAACCAGATCCTGGAGACAGTGAGATACTCAGGGCGTTGTTAACAGGGAGTGGTATTTGAAGTGTCCAGCAGTTGCTTGAAATGCTTTGCCGAATCTGACTCCAGTAAGAATGTGGGAAAACCCCCTGTGTGTTCTGCAAGCAGGGCTCTTGCACCAGCGGTCTCCTCAGGGTGGACCTGCTTACAGAGCAAGCCACGCCTCTTTCCGAGGTGAAGGTGGGACCATTCCTTGGGAAAGGATTCACAGTAAGGTTTTTTGGTTTTTGTTTTTTGTTTTCTTGTTTTTAAAAAAAGGATTTCACAGTGAGAAAGTTTTGGTTAGTGCATACCGTGGAAGGGCGCCAGGGTCTTTGTGGATTGCATGTTGACATTGACCGTGAGATTCGGCTTCAAACCAATACTGCCTTTGGAATATGACAGAATCAATAGCCCAGAGAGCTTAGTCAAAGACGATATCACGGTCTACCTTAACCAAGGCACTTTCTTAAGCAGAAAATATTGTTGAGGTTACCTTTGCTGCTAAAGATCCAATCTTCTAACGCCACAACAGCATAGCAAATCCTAGGATAATTCACCTCCTCATTTGACAAATCAGAGCTGTAATTCGCTTTAACAAATTACGCATTTCTATCACGTTCACTAACAGCTTATGATAAGTCTGTGTAGTCTTCCTTTTCTCCAGTTCTGTTACCCAATTTAGATTAGTAAAGCGTACACAACTGGAAAGACTGCTGTAATAACACAGCCTTGTTATTTTTAAGTCCTATTTTGATATTAATTTCTGATTAGTTAGTAAATAACACCTGGATTCTATGGAGGACCTCGGTCTTCATCCAAGTGGCCTGAGTATTTCACTGGCAGGTTGTGAATTTTTCTTTTCCTCTTTGGGGATCCAAATGATGATGTGCAATTTCATGTTTTAACTTGGGAAACTGAAAGTGTTCCCATATAGCTTCAAAAACAAAAACAAATGTGTTATCCGACGGATACTTTTATGGTTACTAACTAGTACTTTCCTAATTGGGAAAGTAGTGCTTAAGTTTGCAAATTAAGTTGGGGAGGGCAATAATAAAATGAGGGCCCGTAACAGAACCAGTGTGTGTATAACGAAAACCATGTATAAAATGGGCCTATCACCCTTGTCAGAGATATAAATTACCACATTTGCCTTCCCTTCATCAGCTAACACTTATCACTTATACTACCAATAACTTGTTAAATCAGGATTTGGCTTCATACACTGAATTTTCAGTATTTTATCTCAAGTAGATATAGACACTAACCTTGATAGTGATACGTTAGAGGGTTCCTATTCTTCCATTGTACGATAATGTCTTTAATATGAAATGCTACATTATTTATAATTGGTAGAGTTATTGTATCTTTTTATAGTTGTAAGTACACAGAGGTGGTATATTTAAACTTCTGTAATATACTGTATTTAGAAATGGAAATATATATAGTGTTAGGTTTCACTTCTTTTAAGGTTTACCCCTGTGGTGTGGTTTAAAAATCTATAGGCCTGGGAATTCCGATCCTAGCTGCAGATCGCATCCCACAATGCGAGAATGATAAAATAAAATTGGATATTTGAGAAACATTGTGCTTTTTCATTTAAAGACCAAAGTCATTTGAATTCGATGGCAGGCCTTTCTCTTTCTGAGACCTGTACGAAATGGCTGATATTAAAGCAGGATCAATAATGTAAGCATAAAATTACATTTGCTCAG 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Task1_train_21944 | The gene CHSY1 (chondroitin sulfate synthase 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Temtamy preaxial brachydactyly syndrome | TGCAAATAAAACAGACTAAACACACTCCCGATACACATAAATAATACTAACTAACAGGTACTCAAGAAATGGCAGAGCTCTGAACAACAGATATTAAATAAATTAAAGGTATTTCAGATACAAAGGATAAAACAAAACAGTAATGAAAGAATGAAAACCATCTCCACCCACATAACACAGACAGGATGAAAGGAACAAAACCAAATACATTTTTCCCCAACGTTTTGATTAGGGTGTATGTGTGTATGTTTCAGTCTGTGTACATCAGATTTATTGTAATAATTCATCTTTGTCATTCTAAACATTAATATTTTACCCTTTAAAGAGAAGGGTCAAGAAGAGAAAATGCCAAATCCTTCTTGAAATTTAATGCCAGGTCTATTTAGGCCGAATGAACTACCACGAGAACAGCCACATACCTCACTGTGCCTTCTTCACGCCCCTTGCTTTAAAACCTACGTGGCCAGCTGGGCTTGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCAAAGGCAGGGGAATTGCTTGAACCAGGGAAGTGGAGGTTAAAGTGAGCCAAGATTGCGCCACTGCATTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTCAAAAAAAGAACAAAACAAAACAAACAAAAAACCTACGTGGCCATGCTGAGCAGAGTACCATGAGAGGAAATGATCAACTCTGGAAAGCTCTCCTGAAGACAATGATGAAACAGCTATTATCACATTTCCTTATCTTACAACTGGAACATGAAATGGCTTTAAAACAATTGTAAAAAAAAAAAACAAAACACAAAAGGTAGAATCTGTGGAATGTTAACAATCACAACAGAACATTTACCAGAGTTACAGTGTTTTGTTACAATAATACTTTGCAGGAATGTTCACGTTTTCTGCCATAGGACTGGAGCAAAGGGTCTCAAAAGAAAACATTTTTTTAAAAAAGTTTTGTTCATCAGGTACATTTCAAGTCAAAGTTAAGCAGGTCTGCTACATAATGTTCAGCAAGAAGATGTGTTCAAAGGCAAACACTGATCACCTTCTTGTTCAGAAAGCTCAATCTTAAAGGAGTCCTATGTAAGAAAACCACTTGTAAAATATATCCTTGTATACGGACTTCAAAAACTGATCATACAAAAAATTTTTGAAAAATAAATTAGATAATTAAAAACGTCTTTTCCAGCAAAGCTGGACATTAGGCTGTCCTCACTGAGCCATTATTATTGCTGCTTTTACTGTAACTTGGATCATTTTTTTCCAGCCACATCTCAGCCAGCTGCTGGGTGGACCCATAGGTCGATGCTTTGGACCCCAAGCACATTTTGTACTGTTTGGGGTCAAGATTGGGATCACAAAAGACAGGATGGTGGACGTGGACTACTCCTACTTCCTGGCTCCTAAACGTCTTCAAACCTGCCTGGACAACCTTGTTGAAAAGGTCCACATCCTCCAGCCCCCAGCCTTGGATGGAAACATCAAAGCCACCCACTCGGACAAGATCTCCCTTATAAATACACGTGATGCCAAACCCATAGTTTCTCCAGAAGCCAGTTTTCTGAGTAAAGGCAAAATGGTTGTCACTGGGAACTTTCCCACTATAAACAATCTTTGGGTCATACTGGCTGAAGATGATTGGAAAATATATTTGTTGGCCCAGAACTGTATTTGCTCGACATCGCTGAAGGAATTCTGTAGTAAACACGAGGTCGACGTCGCAGAAGAAGAGCAAAGATTCATTGTTAAACTGGGAGGATCCTACTTCCAGGGCCAGGGCTCTTGAAAACTCTCCAGACACAGGCAAAATCTGCATGTCGGCTTTAGGGTACTTAATGCGGTAATCTCTCATCAGTTCAACTTGTTTGGCCTTGTCAGGGTTGGAGTCAGAATTGAAAAGCAGAACCACGAGCTTGACGTTCTGATTGGGGATAAGACACGTCTTCTCAAAGTTTCCCATAAATCTCACAAACATGTCGAAACGCCCAGACAAAGGAATCAGTATGTTTATCTTTTTATCTTTGGGTTCTTTGTGCTCACTCTTCGACCCAGGGAGCTGAAAGGGGACGAGCTTCTTCAGGGAGTTTGAGAGAAAGGACAAGGATCCAGATTCCTGATTGATTCTCTTGGCCAACTCTTGTGCATCCAGCTCCTCATGCTCCACAAACTGGATTTTGCTGAAAGTCTGCTGTAAATACGCGTGCCTCCTCACAGGGACCGTCATTTTCTTCCCTTTGTGCTTTTTGTACAGAAGCAGCAGGTCCAGGATGTACTCAGCCCCATACATGGGGTTCACCCGGCGGTAGCCGTACTGGATCTCTTTGAAGTCAATGATGCGCCCTCTGGTCTTGGCGTTGGCATTGATCATCTCCATGACCTGCATGACAATGTCGTCCAAGGCTTCCCTCTGGGCGGAGTCCATTCCTCTTCGAGGGGGCTGGCCGTCAACTGCCGAATACAAGTATTTTCCAGTCAGAAACTCCCATTCCAGAATCTCCTCTCGCTGGCGGGGCTGAAACCTCATGAAGGAGGGAGGGATTCCCAGCTGGAGGTCCTCTTTATGAATTTCTGTGTTGCTGTATTTGCTCATCAGGACAATTTCGCGGTGCAGCTGTATTGTGCGATGGCGGAGCTCGGATATCTTGCGGCTCAGCATGTAGCTGTGGAGCCTGTACTGGTAGGGTGGGTTTTTGTTGGGGTGTAATGTGATAGCTTGGTGAATTTTACTGTTATGGAGATCTCTAATGTACCCCTTTTTGTTCTGCTCGTAATTCTCATAAAAAAGCTGCTGCATCTGTTACAGGAAAAAAAAGAGATCACAAATTTAGTATTGTATGATTGAGTGCCAGCACATGCTAAAGAAAATGCAAATATTAGAAATGTTTCTGAATGGACCACAGCACACAAAAGGCCCTAGATAAGGCCCGATCAACAGCAGTCCAATGTGGTTAGAAGAATTCACAGATAGAAACTGCTTAAGGAAGTAAGGGTTAATAACCAAAGTTGGCCAATATACTTTCACAGGCAAACAGAATTATGAAAAAGTTGTCCCATAATGAAAACATATAAAATTGAGATCACAGTGCACCACAGGAGCATGCCTGAAAGATAAAGCCACCCCCGTCCCACTACGCCTGTGAAAGGGACCCACAGAGTCATGCGTCCCTGGCTGAAGACCTGAATAGCAGATCCTGCGGCTTCTATCTGTGGGAATAAACTTCCTCCTGAGAGCCAGAAGAACTCCAGGCAAACAACCTGAGCGAAGGAGTACCCTGCTTCCAGGGAGCTAAGGGAAGGGAAAGCCTATCAGAGGCAGGAGGCGGCCTGGCCCTGCGAGGATGCTGCAGGGATGAATCAAGGCTCTGCTGAGGTCTCTGGAAGCAAAAGCACACGCTGAAAACCCTCTTCACGCTGCTGGCCTCCTGCGTACGAGGAAGGTACCCCTCTCCCAGGTCTTCTGTGGAGGCAGGAGCGGGCCTGCTTGCTCAGCACGGGGTCTCCGGCACCAGCACGGAGCTTGGTGCCTGGGGGATCAGAAAATGCTGGCAGATGGGAAACATGCAGGACGCACAGGGCTCACCATTCCACCAACCCTGCCTCCGCCCCGTGGCGCAGGTTTTGGGACAGCATAAGCTTACGGGCCATCAGCCAAAATGGGTTCCCTCAAGTTAGGAAGGGAATGTGCCTAATGCCTCAGTACATCTGGGCAAGGAGATGAACGTTTTTACAAAGCATGTTGGAATGCAGAGTAATAGTTTGCAAAAAATGTTCAGTGAAAGCATTTGAGGTTGGTATCTGGTAAATTAGTCCTGTTTCTTTCAAGTTCATGGTTGTTTTTTGTTCATATTGTTAAAGACTAACTCTTGGTAAGGGATGACACGCATTCTGGCTGACTGGTTTATTTGCCTCTGGACAATCATATGCTGACTCTTTCCTGAGCCACTGCAACTACCGTTTAATAGTAGAGAAATATAAATGGGCACTTTTATACCTTACTTCTTTTTCTCATAAGGTAAAAAGTAAACAGGGAGCTGGCATGCCT 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TGCAAATAAAACAGACTAAACACACTCCCGATACACATAAATAATACTAACTAACAGGTACTCAAGAAATGGCAGAGCTCTGAACAACAGATATTAAATAAATTAAAGGTATTTCAGATACAAAGGATAAAACAAAACAGTAATGAAAGAATGAAAACCATCTCCACCCACATAACACAGACAGGATGAAAGGAACAAAACCAAATACATTTTTCCCCAACGTTTTGATTAGGGTGTATGTGTGTATGTTTCAGTCTGTGTACATCAGATTTATTGTAATAATTCATCTTTGTCATTCTAAACATTAATATTTTACCCTTTAAAGAGAAGGGTCAAGAAGAGAAAATGCCAAATCCTTCTTGAAATTTAATGCCAGGTCTATTTAGGCCGAATGAACTACCACGAGAACAGCCACATACCTCACTGTGCCTTCTTCACGCCCCTTGCTTTAAAACCTACGTGGCCAGCTGGGCTTGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCAAAGGCAGGGGAATTGCTTGAACCAGGGAAGTGGAGGTTAAAGTGAGCCAAGATTGCGCCACTGCATTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTCAAAAAAAGAACAAAACAAAACAAACAAAAAACCTACGTGGCCATGCTGAGCAGAGTACCATGAGAGGAAATGATCAACTCTGGAAAGCTCTCCTGAAGACAATGATGAAACAGCTATTATCACATTTCCTTATCTTACAACTGGAACATGAAATGGCTTTAAAACAATTGTAAAAAAAAAAAACAAAACACAAAAGGTAGAATCTGTGGAATGTTAACAATCACAACAGAACATTTACCAGAGTTACAGTGTTTTGTTACAATAATACTTTGCAGGAATGTTCACGTTTTCTGCCATAGGACTGGAGCAAAGGGTCTCAAAAGAAAACATTTTTTTAAAAAAGTTTTGTTCATCAGGTACATTTCAAGTCAAAGTTAAGCAGGTCTGCTACATAATGTTCAGCAAGAAGATGTGTTCAAAGGCAAACACTGATCACCTTCTTGTTCAGAAAGCTCAATCTTAAAGGAGTCCTATGTAAGAAAACCACTTGTAAAATATATCCTTGTATACGGACTTCAAAAACTGATCATACAAAAAATTTTTGAAAAATAAATTAGATAATTAAAAACGTCTTTTCCAGCAAAGCTGGACATTAGGCTGTCCTCACTGAGCCATTATTATTGCTGCTTTTACTGTAACTTGGATCATTTTTTTCCAGCCACATCTCAGCCAGCTGCTGGGTGGACCCATAGGTCGATGCTTTGGACCCCAAGCACATTTTGTACTGTTTGGGGTCAAGATTGGGATCACAAAAGACAGGATGGTGGACGTGGACTACTCCTACTTCCTGGCTCCTAAACGTCTTCAAACCTGCCTGGACAACCTTGTTGAAAAGGTCCACATCCTCCAGCCCCCAGCCTTGGATGGAAACATCAAAGCCACCCACTCGGACAAGATCTCCCTTATAAATACACGTGATGCCAAACCCATAGTTTCTCCAGAAGCCAGTTTTCTGAGTAAAGGCAAAATGGTTGTCACTGGGAACTTTCCCACTATAAACAATCTTTGGGTCATACTGGCTGAAGATGATTGGAAAATATATTTGTTGGCCCAGAACTGTATTTGCTCGACATCGCTGAAGGAATTCTGTAGTAAACACGAGGTCGACGTCGCAGAAGAAGAGCAAAGATTCATTGTTAAACTGGGAGGATCCTACTTCCAGGGCCAGGGCTCTTGAAAACTCTCCAGACACAGGCAAAATCTGCATGTCGGCTTTAGGGTACTTAATGCGGTAATCTCTCATCAGTTCAACTTGTTTGGCCTTGTCAGGGTTGGAGTCAGAATTGAAAAGCAGAACCACGAGCTTGACGTTCTGATTGGGGATAAGACACGTCTTCTCAAAGTTTCCCATAAATCTCACAAACATGTCGAAACGCCCAGACAAACGAATCAGTATGTTTATCTTTTTATCTTTGGGTTCTTTGTGCTCACTCTTCGACCCAGGGAGCTGAAAGGGGACGAGCTTCTTCAGGGAGTTTGAGAGAAAGGACAAGGATCCAGATTCCTGATTGATTCTCTTGGCCAACTCTTGTGCATCCAGCTCCTCATGCTCCACAAACTGGATTTTGCTGAAAGTCTGCTGTAAATACGCGTGCCTCCTCACAGGGACCGTCATTTTCTTCCCTTTGTGCTTTTTGTACAGAAGCAGCAGGTCCAGGATGTACTCAGCCCCATACATGGGGTTCACCCGGCGGTAGCCGTACTGGATCTCTTTGAAGTCAATGATGCGCCCTCTGGTCTTGGCGTTGGCATTGATCATCTCCATGACCTGCATGACAATGTCGTCCAAGGCTTCCCTCTGGGCGGAGTCCATTCCTCTTCGAGGGGGCTGGCCGTCAACTGCCGAATACAAGTATTTTCCAGTCAGAAACTCCCATTCCAGAATCTCCTCTCGCTGGCGGGGCTGAAACCTCATGAAGGAGGGAGGGATTCCCAGCTGGAGGTCCTCTTTATGAATTTCTGTGTTGCTGTATTTGCTCATCAGGACAATTTCGCGGTGCAGCTGTATTGTGCGATGGCGGAGCTCGGATATCTTGCGGCTCAGCATGTAGCTGTGGAGCCTGTACTGGTAGGGTGGGTTTTTGTTGGGGTGTAATGTGATAGCTTGGTGAATTTTACTGTTATGGAGATCTCTAATGTACCCCTTTTTGTTCTGCTCGTAATTCTCATAAAAAAGCTGCTGCATCTGTTACAGGAAAAAAAAGAGATCACAAATTTAGTATTGTATGATTGAGTGCCAGCACATGCTAAAGAAAATGCAAATATTAGAAATGTTTCTGAATGGACCACAGCACACAAAAGGCCCTAGATAAGGCCCGATCAACAGCAGTCCAATGTGGTTAGAAGAATTCACAGATAGAAACTGCTTAAGGAAGTAAGGGTTAATAACCAAAGTTGGCCAATATACTTTCACAGGCAAACAGAATTATGAAAAAGTTGTCCCATAATGAAAACATATAAAATTGAGATCACAGTGCACCACAGGAGCATGCCTGAAAGATAAAGCCACCCCCGTCCCACTACGCCTGTGAAAGGGACCCACAGAGTCATGCGTCCCTGGCTGAAGACCTGAATAGCAGATCCTGCGGCTTCTATCTGTGGGAATAAACTTCCTCCTGAGAGCCAGAAGAACTCCAGGCAAACAACCTGAGCGAAGGAGTACCCTGCTTCCAGGGAGCTAAGGGAAGGGAAAGCCTATCAGAGGCAGGAGGCGGCCTGGCCCTGCGAGGATGCTGCAGGGATGAATCAAGGCTCTGCTGAGGTCTCTGGAAGCAAAAGCACACGCTGAAAACCCTCTTCACGCTGCTGGCCTCCTGCGTACGAGGAAGGTACCCCTCTCCCAGGTCTTCTGTGGAGGCAGGAGCGGGCCTGCTTGCTCAGCACGGGGTCTCCGGCACCAGCACGGAGCTTGGTGCCTGGGGGATCAGAAAATGCTGGCAGATGGGAAACATGCAGGACGCACAGGGCTCACCATTCCACCAACCCTGCCTCCGCCCCGTGGCGCAGGTTTTGGGACAGCATAAGCTTACGGGCCATCAGCCAAAATGGGTTCCCTCAAGTTAGGAAGGGAATGTGCCTAATGCCTCAGTACATCTGGGCAAGGAGATGAACGTTTTTACAAAGCATGTTGGAATGCAGAGTAATAGTTTGCAAAAAATGTTCAGTGAAAGCATTTGAGGTTGGTATCTGGTAAATTAGTCCTGTTTCTTTCAAGTTCATGGTTGTTTTTTGTTCATATTGTTAAAGACTAACTCTTGGTAAGGGATGACACGCATTCTGGCTGACTGGTTTATTTGCCTCTGGACAATCATATGCTGACTCTTTCCTGAGCCACTGCAACTACCGTTTAATAGTAGAGAAATATAAATGGGCACTTTTATACCTTACTTCTTTTTCTCATAAGGTAAAAAGTAAACAGGGAGCTGGCATGCCT 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Task1_train_21945 | Here is a mutation in POLR3K (RNA polymerase III subunit K) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leukodystrophy, hypomyelinating, 21 | GCCTCCTGAGTAGCTAGGACTACAGGCACGCGCCACTGAGCCTGGCTAATTTGTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCCTGTTGCCTGGGCTAGAGTGCAATAGCACGATCTCAGCTCACTACAACCTCCGCCTCACAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGCACCACCACGCTCAGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATGTCTTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAATGCTGGGATTATAGGTGTGAGCCACCGTGCCAGCTGCTAACTTTTTCACATAGCAGATTTGTATGTTCTTTTTTTTGACAGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGATGCAATCTTGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGCAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTGCAGGCGTGAGCCACCACACCCAGCCTATATGTTCTTTTATAGGGGGAAAACCACAGTACTAACCATCAGTTATCTCTCTCACCTCTCAATATAACTTACATTTACGTCTTCCCCTTTCCTCTCCTGGCCACATCTATGTCTACCAGACATGCAATAAACATGTATTTTACCCAATCTGCAGTTTAATGCTCACTGGTATTAACTTCTAAAAATCTATATTAGAAGCGTGTATTAGTCCGTTCTCACACTGCTATGAATACCTGAGACTGGGTAATTTATATAGACAAAAGGGGTTTTGTTTGTTTTGAGACAGAGTCTCACTCTTGTCACCGAGGCTAGAGTGCAGTAGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTACCTCAGCCTCCTGAGCAGTTGGGTCTACAGGCGAGCGCCACCACACCCGGCTAATTATTTTATCTTTAATAGAGACAGGGTTTCACCATGCGGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCTACCTTGGCCTCCCAAACTGCTGGGATTTACAGGCGTGAGCCACGACACCCAGCCAAGAAAAGAGGTCTAATTTACTCACAGTTCTGCGTGGCTGGGGATGCCTCAGGAAACCTACAATCATGGCGAAAGGAACCTCTTCACAGAGCAGCAGGAGACAGAATGAGTGCGAGCAGGGGAAACGCAAACGCTTATAAAACGATCTGATCTTGTGAGAACTCACTCACTATCAGGAGAACAGCATGGGGGGAAACCGCTCCCATGATTCAATTACCTCCCACTGGGCCCCTCCCAGGACACCTGGGGATTACGGAAACTATAATTCAAGATGAGATTAGGGTGGAGACACAGCCAAACCATATCAAACAGAAAGAACATACTTTTTTCCTTAGACTCTTATTTTTATTAATCTACTCATCATTGCCATTATCAAAGCTATCACCTGTTGAGTGCCTCTTATATACCAAGCACGGTATAATTCACTTTATGCTCTCGCGGTCTACGAATATGGATTAGCCCCAGAGAAGTCAAGAGACCCAAGGAAGGTCCTACAACAATACAAGGTTGCCCTGAGAATCTGACCCGGGCCTGTATGACTCCAAGGCTGGCACAAATATTGCTTGTCTGACAGATTATTAAACAGTAACAAATACAAATAAATTATTCAAGAACCATTTTCTATTTTTAGAAACCTACATCATTTATATGACATCATAGACTCTGCCAAGCAGTGGCATCAACAGCCTCATAATTATCCACAGTTTAGCAACAGAAACAGTTTTCCCTCTTACCTGCAGTAGAGTCAACATTCTCCCAGGCAGCTGCTCCACCAAGCACATCATCCACTTCTTTCAGTTTTGGGTACTTCCGATTTGTTACCTAACAAAAACAACACTTCAGACTCCAAGTAACTGAATAGCGCAAACCTGGGCTGCCAAACCTTAAATTTCAGGATTACATAAGAGTTCACTCGGCTGGGCGTGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCCGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCTACGGAGCAAGACTCCATCTCAAAAAAAAAAAAAAACAAAGAGTTCACTCTTCCCGTAGTTTCAAACTCCAAACTCCCACAACACAGTACAAACTGGAGTAGCATGCAAACATTAAGACTGACGTAGCACCAACATATTCTAACTGCTAAAAAGTAAAGGTATTCTGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAAGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAGCGCGGTGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGGGATGGTGGCAGGCGCCTGTAATTCCAGCTACTCGGGAAGCCGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGAAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGACCGTCCTGGCTAACACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATCAGCCAGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGGAGAGTGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAATAAAAAAAAATAAAGAAAGCACACAATACATTACATAATATATTAGAAGGTAATAAGCCCTATGGAAACAATTACAAAGGGAAGGAGAATAAATTGGAAGGAGGGGCTGAAATTTAAAATACGGTAAAGACAAGACCAATGAGTAAGGTGGCGATCTAGGGGAAGAGTGAACTGAGCAACAGCAAGTGCAAAGGCCCTGCTAGCACCATGAGCACGATGAGAGATCGTCCAGGAGGCGGTGTTGATGCGGCAAAGGGCAACAGGAAGGGCATTAGGACTTGAAATCGGAGACGCACGCAGGGGAGGGAGTCAGTGTCGGAACCTGGTAGGCCCTGGGAGAACTCCGGCTTTTCGTCTGCGTGAGCTGGAGAAGAGCCGAAGGTTTCTGCGCACAGCACGGACCTGCGTGCCTCAGCTTTAAGGAAATCACCGTGGCCGCCGCTGTGAACGCAGAGAAGGGCGCGAGCGTGGGAGCAGGAACCCAAGGCGGTGGGAAACGGTGGGGCTTTCTGAGTGTATTGGAAAGTAGAGCCCACAGATCTGCTGCAGACCAGAAAGGGGCGCGAGAAAGAGCGGACAGAGGCAGACGCCGGGGCTGGCGGCGATGGAGCAGCAGTCGGAGGACGCGGAAGGCCTGCGAGAGTCGCCCGCGCCCAGCGCCGGCCTTCGGGTCCCACCTTGCGGGTGATGTTGTGCACGTAGGGGCACGTGTTGCAGGCGAAGCGGTGGCAGCGTTGTCCCTCCTCCACGATCAGCCCGTTCCCGCAGCCGGGGCAGAACAGCAGCATGGTCTCGAACTCCGCAGGCTCCAACTCCCGGCAGCTCCCACTGCCGCTCAGCGCCGATGCGCCGCCCGCCTCGAGCTCACATTGGTCCTGGCAGCCT 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GCCTCCTGAGTAGCTAGGACTACAGGCACGCGCCACTGAGCCTGGCTAATTTGTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCCTGTTGCCTGGGCTAGAGTGCAATAGCACGATCTCAGCTCACTACAACCTCCGCCTCACAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGCACCACCACGCTCAGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATGTCTTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAATGCTGGGATTATAGGTGTGAGCCACCGTGCCAGCTGCTAACTTTTTCACATAGCAGATTTGTATGTTCTTTTTTTTGACAGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGATGCAATCTTGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGCAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTGCAGGCGTGAGCCACCACACCCAGCCTATATGTTCTTTTATAGGGGGAAAACCACAGTACTAACCATCAGTTATCTCTCTCACCTCTCAATATAACTTACATTTACGTCTTCCCCTTTCCTCTCCTGGCCACATCTATGTCTACCAGACATGCAATAAACATGTATTTTACCCAATCTGCAGTTTAATGCTCACTGGTATTAACTTCTAAAAATCTATATTAGAAGCGTGTATTAGTCCGTTCTCACACTGCTATGAATACCTGAGACTGGGTAATTTATATAGACAAAAGGGGTTTTGTTTGTTTTGAGACAGAGTCTCACTCTTGTCACCGAGGCTAGAGTGCAGTAGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTACCTCAGCCTCCTGAGCAGTTGGGTCTACAGGCGAGCGCCACCACACCCGGCTAATTATTTTATCTTTAATAGAGACAGGGTTTCACCATGCGGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCTACCTTGGCCTCCCAAACTGCTGGGATTTACAGGCGTGAGCCACGACACCCAGCCAAGAAAAGAGGTCTAATTTACTCACAGTTCTGCGTGGCTGGGGATGCCTCAGGAAACCTACAATCATGGCGAAAGGAACCTCTTCACAGAGCAGCAGGAGACAGAATGAGTGCGAGCAGGGGAAACGCAAACGCTTATAAAACGATCTGATCTTGTGAGAACTCACTCACTATCAGGAGAACAGCATGGGGGGAAACCGCTCCCATGATTCAATTACCTCCCACTGGGCCCCTCCCAGGACACCTGGGGATTACGGAAACTATAATTCAAGATGAGATTAGGGTGGAGACACAGCCAAACCATATCAAACAGAAAGAACATACTTTTTTCCTTAGACTCTTATTTTTATTAATCTACTCATCATTGCCATTATCAAAGCTATCACCTGTTGAGTGCCTCTTATATACCAAGCACGGTATAATTCACTTTATGCTCTCGCGGTCTACGAATATGGATTAGCCCCAGAGAAGTCAAGAGACCCAAGGAAGGTCCTACAACAATACAAGGTTGCCCTGAGAATCTGACCCGGGCCTGTATGACTCCAAGGCTGGCACAAATATTGCTTGTCTGACAGATTATTAAACAGTAACAAATACAAATAAATTATTCAAGAACCATTTTCTATTTTTAGAAACCTACATCATTTATATGACATCATAGACTCTGCCAAGCAGTGGCATCAACAGCCTCATAATTATCCACAGTTTAGCAACAGAAACAGTTTTCCCTCTTACCTGCAGTAGAGTCAACATTCTCCCAGGCAGCTGCTCCACCAAGCACATCATCCACTTCTTTCAGTTTTGGGTACTTCCAATTTGTTACCTAACAAAAACAACACTTCAGACTCCAAGTAACTGAATAGCGCAAACCTGGGCTGCCAAACCTTAAATTTCAGGATTACATAAGAGTTCACTCGGCTGGGCGTGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCCGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCTACGGAGCAAGACTCCATCTCAAAAAAAAAAAAAAACAAAGAGTTCACTCTTCCCGTAGTTTCAAACTCCAAACTCCCACAACACAGTACAAACTGGAGTAGCATGCAAACATTAAGACTGACGTAGCACCAACATATTCTAACTGCTAAAAAGTAAAGGTATTCTGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAAGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAGCGCGGTGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGGGATGGTGGCAGGCGCCTGTAATTCCAGCTACTCGGGAAGCCGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGAAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGACCGTCCTGGCTAACACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATCAGCCAGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGGAGAGTGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAATAAAAAAAAATAAAGAAAGCACACAATACATTACATAATATATTAGAAGGTAATAAGCCCTATGGAAACAATTACAAAGGGAAGGAGAATAAATTGGAAGGAGGGGCTGAAATTTAAAATACGGTAAAGACAAGACCAATGAGTAAGGTGGCGATCTAGGGGAAGAGTGAACTGAGCAACAGCAAGTGCAAAGGCCCTGCTAGCACCATGAGCACGATGAGAGATCGTCCAGGAGGCGGTGTTGATGCGGCAAAGGGCAACAGGAAGGGCATTAGGACTTGAAATCGGAGACGCACGCAGGGGAGGGAGTCAGTGTCGGAACCTGGTAGGCCCTGGGAGAACTCCGGCTTTTCGTCTGCGTGAGCTGGAGAAGAGCCGAAGGTTTCTGCGCACAGCACGGACCTGCGTGCCTCAGCTTTAAGGAAATCACCGTGGCCGCCGCTGTGAACGCAGAGAAGGGCGCGAGCGTGGGAGCAGGAACCCAAGGCGGTGGGAAACGGTGGGGCTTTCTGAGTGTATTGGAAAGTAGAGCCCACAGATCTGCTGCAGACCAGAAAGGGGCGCGAGAAAGAGCGGACAGAGGCAGACGCCGGGGCTGGCGGCGATGGAGCAGCAGTCGGAGGACGCGGAAGGCCTGCGAGAGTCGCCCGCGCCCAGCGCCGGCCTTCGGGTCCCACCTTGCGGGTGATGTTGTGCACGTAGGGGCACGTGTTGCAGGCGAAGCGGTGGCAGCGTTGTCCCTCCTCCACGATCAGCCCGTTCCCGCAGCCGGGGCAGAACAGCAGCATGGTCTCGAACTCCGCAGGCTCCAACTCCCGGCAGCTCCCACTGCCGCTCAGCGCCGATGCGCCGCCCGCCTCGAGCTCACATTGGTCCTGGCAGCCT 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Task1_train_21946 | A genetic alteration is present in HBA-LCR, NPRL3 (alpha-globin locus control region| NPR3 like, GATOR1 complex subunit) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epilepsy, familial focal, with variable foci 3 | CAGGGAAGTGAAGGGGACATCAAAAGGAGACCAAAGCTTTGTCCAAGGAGACTCTGAGAGCAAGGGTGAGAGGCACACTGTCCACACAAACTCCTGCCAGACAACCTCAGAAGAGGGCATCAAAGCTTTGTCCAAGGAGACTCTGACAGCAAGGATGAGAGGCACAGTGTCCAGCACAAACTCCTGCCAGACAGCCTCAGGAAAGCCAGGCCCAGCTCCTTTCAAAAGCTCAACACAGGACCAGTGAACAGCCACAGGCATTTACCATGTGGTCGGTGCTCATCAGGACACGGAGGGTCACTGCCTCCCTCACTCTGCAGGGTTGTATGGAGTGGTGAGTTCTTTTAAAATTCTCTGTCTCCTGAATGCTATGAAGGTGGGCAGGACATGGTGTTTACTGAGTCCTGTCCAGCCCATGAAGTCCAAAGGCACAGCTGGGCATGGTGGCTCATGCCTGTAATACCAGCCCTTTAGGAGGCCAAGGTGCGATGATCACTTGAGCCCAGGAGTATGAGGCCAGCCAGGGCAACATAGGGAAACCCCGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATATTAGCCAGGCGCACACCTGTAGTCCCAGCTACTTGGGAGGATGCTTGAGCCTGGGTGGATCATGATGGCACCACCACATGCCAGCCTGGGAGACAGAGCAAGAACCTGTCTCAGAAAAGAAAAAAGAAATACAAGGGCACAATTTGGTAAGTGCTCTCACAGAGGATAGATAAAGGGTCCTGAGATACAGAGGCGGGAGACTTACTCTCAAAGACAGAATCCAAAAAGGCTGCTTTCGGGGAAAAGTGGCCTGAGAGTCAGGCCTTGTTGGACAAGTTCCCCTAACGTGCTAAGCAGAGACCTGTTTCACAGGCCAAAAGAGCATGGAAGCTCAGCCAGAGGGACCCAGGCGGGCCCACCTCACGCCTGTGTTCCTCGGCAGCCTCTGCTGCCCCCTGGTGGCCATGCTGTGCACACCGCCACCAGACGAGGGCGCCACCCACAGGCACCACCTGCTCCCACCCTCAGGCAGTATTTCAATGGTCCCGTGGCTCTGGGCCACGCCCACATGACTAGCAGCCACAGCTGATCCCATGGCCTGTTGGCCACCCCATCAGCAGCCCCTGCTTCTGATTTCTCCCCGTGCTTTTTTTTTTTTTGGAAACAGAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTAACTGCAACCTCTGCCTCCCAGGCTCAATTGATCCTCACACCTCATACCCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTATTTTTTTTTTTTTTTTTTTTGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCTCAGGCTGGTCTCAAAGTCCTGGGCTAGGATGACAGGCATGAGCCACCGTGCCCAGCCTTGCCTGCGCTTTTCCTCCCACACTCCAACCAGATCCGCAGACGAGGCTGAGGGGCCCTCCATCTAATCAGAAAGGGCAGCCCTCTGCATGGACAGGCCCATAAGCATGTGGCTCAGCAAGGACGTGGCATCTTGTACAGAGTGCACAGGCCAACACATGTGCACACACAGGGGCGTAAGGCCACCAGGTTAGGTCTCTGTTCTGCACATGGGAGGGCCCCGCATCCAAGCTTCCTGCCCTTAGTTCCCGTATGTTGTTCATGCACCACTGTGAGACCCCCATGGCCCTGCCCGCTGCTGCCCTGCCCACCCCCTAGCTCTGGTGCCTCAACCTCCAGGACTGCAAGCACCCCAGTCCTTTCTCTCACAGACTCGCCTTACCTCTCTGAGACAGAAGAACAAGTCAGTCCCGTGGCTCACTCACAAAGCCAGCCCTGAACCCAGGTCTGACTCAGATGCCAAAACCTCCAGCCATCCCAGGGACTGGCCCCACCCCATGGTGGGCTGTGCCGCGGCTCTCAGCTGGACACAGCCCCTGTGGATGTACTGTGGCAGGCGGCCTGCCTTTCCTGATGCCCCAGCACCGCCACATGCCACCCATCTGGGCCTCCAGAGCTATACCTGCAGCAAGGCCAGGTCCGCATCTTGGGCTAGCTGCTGCAGGTTCTTCACAGCAGATGTGGTCTTGATCACCCGCACTAGGGCAGGGGAGCAGTCAATAGGAAGCTCACCCAGCAAGGACTTCTCATCACTGAGCAGCAGCAGGGCATGGTAGGGGCTGCAAAACAATCACCTGTCACGGAACACACGAAGTGCAGGAACCCTGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTATGCACCTGGGACTCAAACACACGGAACATACGAAGTGCAGGGAACCCTGCACCAGGTATGCACCAGGTCCTGCACGAGGTCCTGCACCGGGTGTGCATCAGGTATGCACCTGGGACACAAACAGGCAGCTGGAGCCTCCTGGCCCTTAACTGCGGAGAGAAGGGCCAAGAGCGGGATTTGAGAAAAGGGCAGTGGTCTGTTTGGAGGCCTTCACAAAATCTGCCAAGGACTGGCTCATGCCTATAATCCCGGCACTCTGGGAGGCCAAGGCAGGCAGGTCACGTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTATCCGGGTGTGGTTGCACCCACCTGGGGTCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAACAACAAAAACAAAACCTGCAAGGATTATGTCACCCTCGGAAAAAAACACGACAAAAGTGGGGAAGGCTCGAAGACTGGACTCTGTATCCCACCTCAGAGACGCCCAGCAAACATCTGTTGATTGAAGACATGAATGAATCTTTCCTAAGGAAATTGTCCCAAATATGGGAAAAGCAAAATCCTCCTCACAGACTAGGGACCAAAGTACATTAAAATATGCTTAGCTAGGATTGAAAGCAAAGAGCACGGACTGGGGAGGGTGGAACTAGGCAGCGCTTTGCTTTCTGTCATTTCCAAATTTTCAGCAATGTGCCCAGATATATTTTTATAATTAAAAAATGTTCAAGGTATTGGGGGACTTGGGAACAGGTGGTGCCAGAAGACTGGGCTCAGTTCTTTCCTTGCAGAAAATCAATTAAATTGCCAGGGCATGGTGGCTAACACCTGTAACCCAGCACTTTGGCAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCACCCATAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGCTTCACTGAGTGGAGACTGTGCCACTGCACTTGAGCCCCGAGCAAGACTACATCTCAAAAAAAAAAAAAAAAAAGTCAATTAAATTAAGAAAGTATATTTTGGGAGGCTGAGATGAGCGATGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACCAAAAAAATTAGCCAGGCATGGCAGTGGGCGCCTGTAATCCCAACTACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGGACGTAGTGGTGAGCCGGGATCGCACTACTGAAATCCAGCCTGGGCGATAAGATCAAAACTCTGTCTCTCTCTCACACACACACACACCCCCGCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAGAAAAAGAAAATAACTGAGATCCCATGAGTGCTGACTGAAATGCAAAAGACTGGGGTAGGGCAACACCATTAAGATGAAGTCCCTCCAGCCCTCCGGCCTCCCCAAGGACACTCAGCCCCACATCCAGGCTGCCCTGCCCAAGCCTAAGGTGGTGCCAGAAGGGCCCAGGAGAAACCTGGGATTGGTCATTTCTGGAC 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CAGGGAAGTGAAGGGGACATCAAAAGGAGACCAAAGCTTTGTCCAAGGAGACTCTGAGAGCAAGGGTGAGAGGCACACTGTCCACACAAACTCCTGCCAGACAACCTCAGAAGAGGGCATCAAAGCTTTGTCCAAGGAGACTCTGACAGCAAGGATGAGAGGCACAGTGTCCAGCACAAACTCCTGCCAGACAGCCTCAGGAAAGCCAGGCCCAGCTCCTTTCAAAAGCTCAACACAGGACCAGTGAACAGCCACAGGCATTTACCATGTGGTCGGTGCTCATCAGGACACGGAGGGTCACTGCCTCCCTCACTCTGCAGGGTTGTATGGAGTGGTGAGTTCTTTTAAAATTCTCTGTCTCCTGAATGCTATGAAGGTGGGCAGGACATGGTGTTTACTGAGTCCTGTCCAGCCCATGAAGTCCAAAGGCACAGCTGGGCATGGTGGCTCATGCCTGTAATACCAGCCCTTTAGGAGGCCAAGGTGCGATGATCACTTGAGCCCAGGAGTATGAGGCCAGCCAGGGCAACATAGGGAAACCCCGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATATTAGCCAGGCGCACACCTGTAGTCCCAGCTACTTGGGAGGATGCTTGAGCCTGGGTGGATCATGATGGCACCACCACATGCCAGCCTGGGAGACAGAGCAAGAACCTGTCTCAGAAAAGAAAAAAGAAATACAAGGGCACAATTTGGTAAGTGCTCTCACAGAGGATAGATAAAGGGTCCTGAGATACAGAGGCGGGAGACTTACTCTCAAAGACAGAATCCAAAAAGGCTGCTTTCGGGGAAAAGTGGCCTGAGAGTCAGGCCTTGTTGGACAAGTTCCCCTAACGTGCTAAGCAGAGACCTGTTTCACAGGCCAAAAGAGCATGGAAGCTCAGCCAGAGGGACCCAGGCGGGCCCACCTCACGCCTGTGTTCCTCGGCAGCCTCTGCTGCCCCCTGGTGGCCATGCTGTGCACACCGCCACCAGACGAGGGCGCCACCCACAGGCACCACCTGCTCCCACCCTCAGGCAGTATTTCAATGGTCCCGTGGCTCTGGGCCACGCCCACATGACTAGCAGCCACAGCTGATCCCATGGCCTGTTGGCCACCCCATCAGCAGCCCCTGCTTCTGATTTCTCCCCGTGCTTTTTTTTTTTTTGGAAACAGAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTAACTGCAACCTCTGCCTCCCAGGCTCAATTGATCCTCACACCTCATACCCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTATTTTTTTTTTTTTTTTTTTTGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCTCAGGCTGGTCTCAAAGTCCTGGGCTAGGATGACAGGCATGAGCCACCGTGCCCAGCCTTGCCTGCGCTTTTCCTCCCACACTCCAACCAGATCCGCAGACGAGGCTGAGGGGCCCTCCATCTAATCAGAAAGGGCAGCCCTCTGCATGGACAGGCCCATAAGCATGTGGCTCAGCAAGGACGTGGCATCTTGTACAGAGTGCACAGGCCAACACATGTGCACACACAGGGGCGTAAGGCCACCAGGTTAGGTCTCTGTTCTGCACATGGGAGGGCCCCGCATCCAAGCTTCCTGCCCTTAGTTCCCGTATGTTGTTCATGCACCACTGTGAGACCCCCATGGCCCTGCCCGCTGCTGCCCTGCCCACCCCCTAGCTCTGGTGCCTCAACCTCCAGGACTGCAAGCACCCCAGTCCTTTCTCTCACAGACTCGCCTTACCTCTCTGAGACAGAAGAACAAGTCAGTCCCGTGGCTCACTCACAAAGCCAGCCCTGAACCCAGGTCTGACTCAGATGCCAAAACCTCCAGCCATCCCAGGGACTGGCCCCACCCCATGGTGGGCTGTGCCGCGGCTCTCAGCTGGACACAGCCCCTGTGGATGTACTGTGGCAGGCGGCCTGCCTTTCCTGATGCCCCAGCACCGCCACATGCCACCCATCTGGGCCTCCAGAGCTATACGTGCAGCAAGGCCAGGTCCGCATCTTGGGCTAGCTGCTGCAGGTTCTTCACAGCAGATGTGGTCTTGATCACCCGCACTAGGGCAGGGGAGCAGTCAATAGGAAGCTCACCCAGCAAGGACTTCTCATCACTGAGCAGCAGCAGGGCATGGTAGGGGCTGCAAAACAATCACCTGTCACGGAACACACGAAGTGCAGGAACCCTGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTATGCACCTGGGACTCAAACACACGGAACATACGAAGTGCAGGGAACCCTGCACCAGGTATGCACCAGGTCCTGCACGAGGTCCTGCACCGGGTGTGCATCAGGTATGCACCTGGGACACAAACAGGCAGCTGGAGCCTCCTGGCCCTTAACTGCGGAGAGAAGGGCCAAGAGCGGGATTTGAGAAAAGGGCAGTGGTCTGTTTGGAGGCCTTCACAAAATCTGCCAAGGACTGGCTCATGCCTATAATCCCGGCACTCTGGGAGGCCAAGGCAGGCAGGTCACGTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTATCCGGGTGTGGTTGCACCCACCTGGGGTCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAACAACAAAAACAAAACCTGCAAGGATTATGTCACCCTCGGAAAAAAACACGACAAAAGTGGGGAAGGCTCGAAGACTGGACTCTGTATCCCACCTCAGAGACGCCCAGCAAACATCTGTTGATTGAAGACATGAATGAATCTTTCCTAAGGAAATTGTCCCAAATATGGGAAAAGCAAAATCCTCCTCACAGACTAGGGACCAAAGTACATTAAAATATGCTTAGCTAGGATTGAAAGCAAAGAGCACGGACTGGGGAGGGTGGAACTAGGCAGCGCTTTGCTTTCTGTCATTTCCAAATTTTCAGCAATGTGCCCAGATATATTTTTATAATTAAAAAATGTTCAAGGTATTGGGGGACTTGGGAACAGGTGGTGCCAGAAGACTGGGCTCAGTTCTTTCCTTGCAGAAAATCAATTAAATTGCCAGGGCATGGTGGCTAACACCTGTAACCCAGCACTTTGGCAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCACCCATAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGCTTCACTGAGTGGAGACTGTGCCACTGCACTTGAGCCCCGAGCAAGACTACATCTCAAAAAAAAAAAAAAAAAAGTCAATTAAATTAAGAAAGTATATTTTGGGAGGCTGAGATGAGCGATGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACCAAAAAAATTAGCCAGGCATGGCAGTGGGCGCCTGTAATCCCAACTACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGGACGTAGTGGTGAGCCGGGATCGCACTACTGAAATCCAGCCTGGGCGATAAGATCAAAACTCTGTCTCTCTCTCACACACACACACACCCCCGCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAGAAAAAGAAAATAACTGAGATCCCATGAGTGCTGACTGAAATGCAAAAGACTGGGGTAGGGCAACACCATTAAGATGAAGTCCCTCCAGCCCTCCGGCCTCCCCAAGGACACTCAGCCCCACATCCAGGCTGCCCTGCCCAAGCCTAAGGTGGTGCCAGAAGGGCCCAGGAGAAACCTGGGATTGGTCATTTCTGGAC 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Task1_train_21947 | Here is a genetic alteration in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heinz body anemia | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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Task1_train_21948 | This genomic variant is located on Chromosome 16, within the HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Erythrocytosis, familial, 7 | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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Task1_train_21949 | Here is a genetic alteration in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hemoglobin H disease | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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Task1_train_21950 | This alteration occurs within gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; alpha Thalassemia | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCA 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Task1_train_21951 | This variant affects the gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAA 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TTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCACGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAA 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Task1_train_21952 | This variant affects gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCG | AAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGGATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCG |
Task1_train_21953 | With a mutation on Chromosome 16 in gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; alpha Thalassemia | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAA | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCCGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAA |
Task1_train_21954 | A variant was discovered in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; HBA2-related disorder | GTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCC 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GTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATATTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCC 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Task1_train_21955 | This alteration occurs within gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Thalassemia | AGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTG 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AGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACGTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTG 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Task1_train_21956 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; alpha Thalassemia | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGG 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TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGG 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Task1_train_21957 | A sequence alteration has been identified in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Non-immune hydrops fetalis | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGG 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TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGG 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Task1_train_21958 | This sequence change occurs on Chromosome 16, altering HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCT 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CTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGAACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCT 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Task1_train_21959 | The following genetic variant occurs in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hemoglobin H disease | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACCGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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Task1_train_21960 | Here is a mutation in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Heinz body anemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACCGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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Task1_train_21961 | This genomic variant is located on Chromosome 16, within the LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; alpha Thalassemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACCGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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Task1_train_21962 | The gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Erythrocytosis, familial, 7 | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACCGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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Task1_train_21963 | This is a variant in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; alpha Thalassemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACCGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGG 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Task1_train_21964 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCAGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21965 | This mutation occurs in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hemoglobin H disease | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCCGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21966 | Gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCCGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21967 | A genomic change on Chromosome 16 affects HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heinz body anemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCCGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21968 | This variant impacts the gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Erythrocytosis, familial, 7 | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCCGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21969 | With a mutation on Chromosome 16 in gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Heinz body anemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCGGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21970 | This sequence change occurs on Chromosome 16, altering LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Erythrocytosis, familial, 7 | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCGGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21971 | This alteration occurs within gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemoglobin H disease | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCGGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21972 | A genetic alteration is present in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCGGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCA 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Task1_train_21973 | This mutation is located in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Heinz body anemia | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGAACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21974 | Consider a variant on Chromosome 16 in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Determine its clinical classification and disease relevance. | Pathogenic; Erythrocytosis, familial, 7 | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGAACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21975 | A change on Chromosome 16 affects gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hemoglobin H disease | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGAACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21976 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; alpha Thalassemia | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGAACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21977 | A mutation found in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGAACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21978 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGTACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACC 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Task1_train_21979 | This variant affects gene HBA1, HBA2, LOC106804612 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Anemia | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA 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TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCCGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA 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Task1_train_21980 | A variant found in Chromosome 16 affects HBA1, HBA2, LOC106804612 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Splenomegaly | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA 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TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCCCTGTCCTTTCCCTACCCAGAGCCAAGTTTGTTTATCTGTTTACAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCCGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA 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Task1_train_21981 | This is a variant in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Heinz body anemia | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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Task1_train_21982 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hemoglobin H disease | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT |
Task1_train_21983 | Gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Methemoglobinemia, alpha type | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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Task1_train_21984 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; alpha Thalassemia | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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Task1_train_21985 | This is a variant in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Erythrocytosis, familial, 7 | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCGTGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCT 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Task1_train_21986 | This mutation occurs in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; alpha Thalassemia | CCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTA | CCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCAGGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTA |
Task1_train_21987 | A variant affecting Chromosome 16, within the gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; alpha Thalassemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21988 | A variant affecting Chromosome 16, within the gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Methemoglobinemia, alpha type | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21989 | The variant affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Erythrocytosis, familial, 7 | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21990 | A change on Chromosome 16 affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Heinz body anemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21991 | A variant has been detected on Chromosome 16 in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hemoglobin H disease | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21992 | Given a variant located on Chromosome 16 and affecting HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; alpha Thalassemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCCGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAA 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Task1_train_21993 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; alpha Thalassemia | GAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGC | GAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACCGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGC 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Task1_train_21994 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; alpha Thalassemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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Task1_train_21995 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Heinz body anemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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Task1_train_21996 | Given this variant in gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Methemoglobinemia, alpha type | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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Task1_train_21997 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Erythrocytosis, familial, 7 | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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Task1_train_21998 | An alteration has been detected in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hemoglobin H disease | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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Task1_train_21999 | A change on Chromosome 16 affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; alpha Thalassemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGACAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCC 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