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_28600 | Given this context: Chromosome 22, gene TANGO2 (transport and golgi organization 2 homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGCCTTGTGGTCTCCTGTGGGTGCCCGCTTCCGCCTACTGCTGAGTTCTCCTCTCCTTGCCATGCCATCAGGTCAGGAATGAGCATGGGGAAGGAGCTGGAGCATGGAGCGGCTTGGCCTCAGTCTGGCCTGATTTCATGGTCCCCAGCTGTACCCCGTGTTAGGTGGGTGGCAGGTGGCAATTTGCCCTGACATGGCACAGCAGGGCCTCTGCATGGCCCGCTGATTGCTCCTCACAGGCACCTACGGGCTGAGCAACGCGCTGCTGGAGACTCCCTGGAGGAAGCTGTGCTTTGGGAAGCAGCTCTTCCTGGAGGCTGTGGAACGGAGCCAGGCGCTGCCCAAGGATGTGCTCATCGCCAGCCTCCTGGATGTGCTCAACAATGAAGAGGCGTGAGTGGGCGGGTCCTGCTGGGGTGAGCCCCAGTGTCCCGCCACCAGGGCAGAGGGAAAGGCAGGCCCTGCTGCCCCGGGAGGCCCATGGAAGTGGCCAGGCTGGGTCCCCAGCTGCAGGGAAGCTGATGGATATCCTGTCCTCCCTGCCTGTCCCCTTGAGCCAGCTGAGGTTTCCAACACCAGGGACTTTTGATGACAGAAGATGGGCCCAGGCCCAGGCCCAGGCCCAGGGGAGGCTCAGTGCACCCAGAGGCTTGATGCAGCCACGTGGGGCCCAGAGCAGATGGATGCTCCCCTCTGCATGCCGAGAGCTTGTGGGAAGTTCCAGAAGATTCTAGACACTCAGCAAACCCAGGCGGAAGAGACACATCATGGAAATGAGTGGCTAGGGTCAGCACGCTCAGGGTTGATGGGCTTCCCGCAAGCGGTCTGTCCCCAGCGACCCTGGGCTGAGTGCTGGGCAGGGACTTGCAGTTCCGGGAACTGCCTGGGTGTAGGAGCTCCCACCCACTTCCTTGCCCGTAGGCCTCAAGGCCCCTCAGGGGCCAGGCACTGGGGTCTTCGTTGCCCCAGCCGGGGGTCCTGGTGCTTGCCATGCCAGCCTTTCTCCCACTGGGCGAGATGCCCCACCCATCCCTCGCTCCCCACCCAGGTCAGACCACTGCCCTGCCCAGGTGATCCAGCGTCCACTCCCACCCTGTCCAGCTTGCCCCCTTCAGAGAAGCACCCATGGACCATCTCCCACTCCTCCCCCTGGGGCCCCTTTCTGCCCCCTGCCTACCCTCCTTCTCCTCTGGGCCTCTGATAGGCGGCCTCGTCCTTCAGCCTCAGCATCGCTGCCTCACTGGAAGAGCCCCACCTGGGCATGCCCAGCAGCCCCTCCCAGCTGTAAGTCCACACAGCCCCCATCAATGTGCCATCTGGGGCAGGCCGAGGACCGGCCCTGGCTGCCCTCACTGATGGCTGGAGCCCCGATGCTAGCTACAATGGCTGGCTTGAGTGGACTTCTGTCACAGAGGCAAATGCCCACAGGGCACCTCTTGGGGCAGGCAGGGAGCTTGTATGTGCCATCTGGGGCCAAAGCTCCACGATTGAGTCATAAGTTAAGGGTAGATGGAGATTTTCCGCCTTGAGCAGAAACGTGGAGGAAACACGCCTGGTGTGTGACTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGGTCAAAACCAACTTGGTCAACATGGTGAAACTCTGTCTCTACTAAAAACACAAAATTAGATGGCTGGGTGGTGCACGCCTGTAATCCCAGCTGACGGCTGGAGCCCCGATGCTAGCTACAATGGCTGGCTTGAGTGGACTTCTGTCAGGAGAATTGCTTGAACTCGGGAGGTGGAAGTTGCAGTGAGCCAAGATCGTACCATTGCGCTCTAGTCTGGGCGACAAGAGTGAAACTCCTCCTCAAAAAAAGAAAATAAGAGAAAAGAGAAGAGAAGAGGAAAAAGAAAAGAAGAAAAGAAACAACCCTTGCAGTTCCCCGGCCACTCCCCAGAGCCAGTTAGGCCACCAGGTGGGCTGGGGCTAGACCCGGCTGCGGGCGGGCCACAGAGGGACTAATGGCCACCACTTCTCTCCATCCTGCAGGCAGCTGCCAGACCCGGCCATCGAGGACCAGGGTGGGGAGTACGTGCAGCCCATGCTGAGCAAGTACGCGGCTGTGTGCGTGCGCTGCCCTGGCTACGGCACCAGGTATTGCAGCACCGTGGGTGCGCCACCTCCTATCCCATGTCCCACCTCCCACGCTAGAGGGCCGGCAAAGAAGCCAAGTGCCCATAGCCAGAGCCAGGCTTCTTCCTCGCCTGAGTGGATTCCAGAGCTTCTGCCCTGTCCAGACGCAGCTGCAGGGTGAGCAGATACCACAGGCTCCCGGGGCCCCACAGGCTGGGCTTAAGGAGCCAGTACACAGCCACACAGGGCCAGGATGGCTTCAGGGCTGCCTGCACATTGGTGGATCCCTGCGGGCAAACGCCCCGGCACCATGGCACTAGGCCTGCAGGCTGTACCCTTGGGTGGTGGCTGCTGGCCAGCCTTTCCTGCCTGGGGCTGGCTGGCCCATTGGCAGGTGCAGGGTGTCATTTCCTTCAGCCCCTCCTCTGTCATAGGCTCATCTTCCTGTGTGTGAGGGGAAGGCAAGTGCCAACTCCACTCCCTGGCAGGCCGCATAGCCGCTGGGTCCCACCCCACGGGGTGCACTGCGTATGTGTCTGCCCTGGGAACCAGCCTGTGCTGGGGCTGTTGGGGGATCCAGGGCCACCCTCCGTCTGCAAAGCCCACGGCAGAGAGGGTTGGAGGAGAGGAGAGTGTGCTGAATGTTTGCTTCAGGTGGGCTGGCATGGCCTGGGCAGTGGAAGAGAGGGCACAGGAGGGAAGCCTTCCAGACAGAGGAGGCCTGGGCCCCAAGTGGTCAACAGCTTGACCTCTTGGAAGAACCAAGCATGGCTGTGTCTGGGAACCTGGGCCTCCAAAGGGGAAGTGTGTGGTCAGCCCGCAGGCTGCCCTATGCCTTGGCTCATGCTACACGGGGAGAGCAGGGCAGGGTGGGGTGGTTCCCAGTGAAGGTGGCAGGACTCAGCAAGTGTGGGCCTGTGGAGCCAGCCAAGAGCTCACACGCCACTGATGGCCCCTCATCATCCCCAAGACTGAGGCTGCTGCTCTCTGTGACTTGGCACAGCCTCCAGGCATGGGGTTCCTAACTCTACCTGCCTGCATTCTTGCCCTATTTGTGGCTGTGACAGGCAGGGCAGGGCTGAGGGACACCAGGTGAACGAGGGCCCCTGCTCTCTTTCAGAACCAACACTATCATCCTGGTAGATGCGGACGGCCACGTGACCTTCACTGAGCGTAGCATGATGGACAAGGACCTCTCCCACTGGGAGACCAGAACCTATGAGTTCACACTGCAGAGCTAACCCCACCTCTGGGCCTGGCCAGTGGGCTCCTGGGGGGCCCTGCCTTGAGGGGCACTGTGGACAGGAAACCTTCCTTTGCCATACTGCATTGCACTGCCCGTGGCTTGGCCAGCATCCCCCGGATCAGGGCCCTGTGGTTTGCGTGTTACCCATCTGTGTCCCCATGCCCAGTTCAGGGTCTGCCTTTATGCCAGTGAGGAGCAGCAGAGTCTGATACTAGGTCTAGGACCGGCCGAGGTATACCATGAACATGTGGATACACCTGAGCCCACTCTTGCACATGTACACAGGCACTCACATGGCACACACATACACTCCTGCGTGTGCACAAGCACACACATGCAAGCCATATACATGGACACCGACACAGGCACATGTACGTGCACAGGTGTGCTACACATGTGCACACATGCACAGTTGCACAGACACACACACACAGGTGCACACACACGATGCCGAACAAGGCAGAAGGGCGACTCTCACCTCTCATGTGCTTCTGGCCAGTAGGTCTTTGTTCTGGTCCAACGACAGGAGTAGGCTTGTATTTAAAAGCGGCCCCTCCTCTCCTGTGGCCACAGAACACAGGCGTGCTTGGACTCTTGACAAGCAGACCTGCTCCTGCAGAGGAGACAGCCACATTTGGAATTGGGCACCGAGAAGACCTGAGAAAAACCCACTCTCTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAG | TGCCTTGTGGTCTCCTGTGGGTGCCCGCTTCCGCCTACTGCTGAGTTCTCCTCTCCTTGCCATGCCATCAGGTCAGGAATGAGCATGGGGAAGGAGCTGGAGCATGGAGCGGCTTGGCCTCAGTCTGGCCTGATTTCATGGTCCCCAGCTGTACCCCGTGTTAGGTGGGTGGCAGGTGGCAATTTGCCCTGACATGGCACAGCAGGGCCTCTGCATGGCCCGCTGATTGCTCCTCACAGGCACCTACGGGCTGAGCAACGCGCTGCTGGAGACTCCCTGGAGGAAGCTGTGCTTTGGGAAGCAGCTCTTCCTGGAGGCTGTGGAACGGAGCCAGGCGCTGCCCAAGGATGTGCTCATCGCCAGCCTCCTGGATGTGCTCAACAATGAAGAGGCGTGAGTGGGCGGGTCCTGCTGGGGTGAGCCCCAGTGTCCCGCCACCAGGGCAGAGGGAAAGGCAGGCCCTGCTGCCCCGGGAGGCCCATGGAAGTGGCCAGGCTGGGTCCCCAGCTGCAGGGAAGCTGATGGATATCCTGTCCTCCCTGCCTGTCCCCTTGAGCCAGCTGAGGTTTCCAACACCAGGGACTTTTGATGACAGAAGATGGGCCCAGGCCCAGGCCCAGGCCCAGGGGAGGCTCAGTGCACCCAGAGGCTTGATGCAGCCACGTGGGGCCCAGAGCAGATGGATGCTCCCCTCTGCATGCCGAGAGCTTGTGGGAAGTTCCAGAAGATTCTAGACACTCAGCAAACCCAGGCGGAAGAGACACATCATGGAAATGAGTGGCTAGGGTCAGCACGCTCAGGGTTGATGGGCTTCCCGCAAGCGGTCTGTCCCCAGCGACCCTGGGCTGAGTGCTGGGCAGGGACTTGCAGTTCCGGGAACTGCCTGGGTGTAGGAGCTCCCACCCACTTCCTTGCCCGTAGGCCTCAAGGCCCCTCAGGGGCCAGGCACTGGGGTCTTCGTTGCCCCAGCCGGGGGTCCTGGTGCTTGCCATGCCAGCCTTTCTCCCACTGGGCGAGATGCCCCACCCATCCCTCGCTCCCCACCCAGGTCAGACCACTGCCCTGCCCAGGTGATCCAGCGTCCACTCCCACCCTGTCCAGCTTGCCCCCTTCAGAGAAGCACCCATGGACCATCTCCCACTCCTCCCCCTGGGGCCCCTTTCTGCCCCCTGCCTACCCTCCTTCTCCTCTGGGCCTCTGATAGGCGGCCTCGTCCTTCAGCCTCAGCATCGCTGCCTCACTGGAAGAGCCCCACCTGGGCATGCCCAGCAGCCCCTCCCAGCTGTAAGTCCACACAGCCCCCATCAATGTGCCATCTGGGGCAGGCCGAGGACCGGCCCTGGCTGCCCTCACTGATGGCTGGAGCCCCGATGCTAGCTACAATGGCTGGCTTGAGTGGACTTCTGTCACAGAGGCAAATGCCCACAGGGCACCTCTTGGGGCAGGCAGGGAGCTTGTATGTGCCATCTGGGGCCAAAGCTCCACGATTGAGTCATAAGTTAAGGGTAGATGGAGATTTTCCGCCTTGAGCAGAAACGTGGAGGAAACACGCCTGGTGTGTGACTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGGTCAAAACCAACTTGGTCAACATGGTGAAACTCTGTCTCTACTAAAAACACAAAATTAGATGGCTGGGTGGTGCACGCCTGTAATCCCAGCTGACGGCTGGAGCCCCGATGCTAGCTACAATGGCTGGCTTGAGTGGACTTCTGTCAGGAGAATTGCTTGAACTCGGGAGGTGGAAGTTGCAGTGAGCCAAGATCGTACCATTGCGCTCTAGTCTGGGCGACAAGAGTGAAACTCCTCCTCAAAAAAAGAAAATAAGAGAAAAGAGAAGAGAAGAGGAAAAAGAAAAGAAGAAAAGAAACAACCCTTGCAGTTCCCCGGCCACTCCCCAGAGCCAGTTAGGCCACCAGGTGGGCTGGGGCTAGACCCGGCTGCGGGCGGGCCACAGAGGGACTAATGGCCACCACTTCTCTCCATCCTGCAGGTAGCTGCCAGACCCGGCCATCGAGGACCAGGGTGGGGAGTACGTGCAGCCCATGCTGAGCAAGTACGCGGCTGTGTGCGTGCGCTGCCCTGGCTACGGCACCAGGTATTGCAGCACCGTGGGTGCGCCACCTCCTATCCCATGTCCCACCTCCCACGCTAGAGGGCCGGCAAAGAAGCCAAGTGCCCATAGCCAGAGCCAGGCTTCTTCCTCGCCTGAGTGGATTCCAGAGCTTCTGCCCTGTCCAGACGCAGCTGCAGGGTGAGCAGATACCACAGGCTCCCGGGGCCCCACAGGCTGGGCTTAAGGAGCCAGTACACAGCCACACAGGGCCAGGATGGCTTCAGGGCTGCCTGCACATTGGTGGATCCCTGCGGGCAAACGCCCCGGCACCATGGCACTAGGCCTGCAGGCTGTACCCTTGGGTGGTGGCTGCTGGCCAGCCTTTCCTGCCTGGGGCTGGCTGGCCCATTGGCAGGTGCAGGGTGTCATTTCCTTCAGCCCCTCCTCTGTCATAGGCTCATCTTCCTGTGTGTGAGGGGAAGGCAAGTGCCAACTCCACTCCCTGGCAGGCCGCATAGCCGCTGGGTCCCACCCCACGGGGTGCACTGCGTATGTGTCTGCCCTGGGAACCAGCCTGTGCTGGGGCTGTTGGGGGATCCAGGGCCACCCTCCGTCTGCAAAGCCCACGGCAGAGAGGGTTGGAGGAGAGGAGAGTGTGCTGAATGTTTGCTTCAGGTGGGCTGGCATGGCCTGGGCAGTGGAAGAGAGGGCACAGGAGGGAAGCCTTCCAGACAGAGGAGGCCTGGGCCCCAAGTGGTCAACAGCTTGACCTCTTGGAAGAACCAAGCATGGCTGTGTCTGGGAACCTGGGCCTCCAAAGGGGAAGTGTGTGGTCAGCCCGCAGGCTGCCCTATGCCTTGGCTCATGCTACACGGGGAGAGCAGGGCAGGGTGGGGTGGTTCCCAGTGAAGGTGGCAGGACTCAGCAAGTGTGGGCCTGTGGAGCCAGCCAAGAGCTCACACGCCACTGATGGCCCCTCATCATCCCCAAGACTGAGGCTGCTGCTCTCTGTGACTTGGCACAGCCTCCAGGCATGGGGTTCCTAACTCTACCTGCCTGCATTCTTGCCCTATTTGTGGCTGTGACAGGCAGGGCAGGGCTGAGGGACACCAGGTGAACGAGGGCCCCTGCTCTCTTTCAGAACCAACACTATCATCCTGGTAGATGCGGACGGCCACGTGACCTTCACTGAGCGTAGCATGATGGACAAGGACCTCTCCCACTGGGAGACCAGAACCTATGAGTTCACACTGCAGAGCTAACCCCACCTCTGGGCCTGGCCAGTGGGCTCCTGGGGGGCCCTGCCTTGAGGGGCACTGTGGACAGGAAACCTTCCTTTGCCATACTGCATTGCACTGCCCGTGGCTTGGCCAGCATCCCCCGGATCAGGGCCCTGTGGTTTGCGTGTTACCCATCTGTGTCCCCATGCCCAGTTCAGGGTCTGCCTTTATGCCAGTGAGGAGCAGCAGAGTCTGATACTAGGTCTAGGACCGGCCGAGGTATACCATGAACATGTGGATACACCTGAGCCCACTCTTGCACATGTACACAGGCACTCACATGGCACACACATACACTCCTGCGTGTGCACAAGCACACACATGCAAGCCATATACATGGACACCGACACAGGCACATGTACGTGCACAGGTGTGCTACACATGTGCACACATGCACAGTTGCACAGACACACACACACAGGTGCACACACACGATGCCGAACAAGGCAGAAGGGCGACTCTCACCTCTCATGTGCTTCTGGCCAGTAGGTCTTTGTTCTGGTCCAACGACAGGAGTAGGCTTGTATTTAAAAGCGGCCCCTCCTCTCCTGTGGCCACAGAACACAGGCGTGCTTGGACTCTTGACAAGCAGACCTGCTCCTGCAGAGGAGACAGCCACATTTGGAATTGGGCACCGAGAAGACCTGAGAAAAACCCACTCTCTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAG 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Task1_train_28601 | Gene SCARF2 (scavenger receptor class F member 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Van den Ende-Gupta syndrome | CTTCCTGCGTCGAGAGGTGTTTCTCCCAGATACCCCGCGCTGTCATCCTTACCTACGACTTTGGGTAGTTTCTGCCTCCGGAGCGGGATCCGGGGCAGCTTCATGCTGATGCGACTGAAGCGCCCGCATAGTCGGTGCGGCGCCTTCTTCCTCCCAAGCGAAAGCTCCCTGCGGGGGCGGGGTCTGAGCGGAGGGGCGGGGCCGGGGCGGGGCCCAGGGGCGATTAGATCTCGGCCGGAGCCAAGCACAGAAGGGGCGGGGCCACGTCCGGGGCAGGGGCGCGGAAGGGTTGGATCTGGGTCCGGTGGCACCCAGAGGGTGCGGCCTGAACCCAGGCGAAAGCGGGGCAGTATCTGGGCTCACCGGCGCGTAGGGTCCTTGCCGCGGCAAGCGCAGCAGCAGCCGAGCAGCGAGAGCAGCAGGCAGACGAGCAGGACGAGCAGCGCGCCCGCGCCCATCACGCCCTTGCGCTGGTTGGTTTCTGTAGGGGGTTATGGGGTCAGCGCGGTTTCTGGCACCCCCTGCATTCCTTAACGGGACGCCCCTCATCCACTTACCTAGGTGGCAGGCACCAGTGACCGGGTCGCACGTGTCCTCGTGGCAGCTGCAGGCCTGAGCACAGTCCGCGCCGTGGAGTCCGGGCGGGCACGTCACGTTACAGCTGCCGGGACATAGGGTCAAGGCATGCCACAGCCGCCCCCCTAGGATGCCCCCTACCCTCACCCCTCACCCGCGGCCAGGGCCCAGGGTCCAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAACGTGAGCTCCCCGACATCCAGGCAGGAAACTGCCCCCAAAGAGCCTACTGTCACTCCCTAGCTGGGGTAAGGGACCAAGGCTGAGGTGATAACCCAGCTCAGGGTGGAGAGGCCACCTCGTCGGCTGGACCCCCCTCTGTGGCAGGTACAAGCCCCCAACCCCCTCCCGGTCCCGGGGCACTCACTGGGGCCCGTGGACGCCAGGGCTGCACAGGCAGCGCCCCGACTGGAAGTCGCAGTGTCCGCTGCCGCAGTCGGCGCACACGAAGGCGCAGTCCTCGCCGTAAGTGCCATTGCTACACTTGGTCTCGCACCTTGGAAAGAGGGGAGGAGGCGTCAGCAGAAATGGAGGCAAACGGACCACAGCGCCCTCGACATTGGGGCCTTTGTTAGGGAGGCAGGGCGGGGGACTGCGTGTCTGGGCCGACGCAGGCAGGGCTGCTCACCGGTCGCCGATCCAGCCCGCGTTGCAGCGCGTACACTTGCCGGTGACATGGTTACAGGCATGCCCGTCGCGGCATGGCGGACAGCGGTGGCTGCAGCCCTCGCCATAGAAACCGGTGGCGCAAGGCTGGTCGCACTTGGTTCCGTTCCAGCCGGGCTCGCACGTCAAGCAGCGGCCCTCGGCCACCGTGCACGGCTGCTGGCCCTTGCACTGGCCACACCTGGGGGAGGGGTCGGAGGCTAGGGAAGGCTGGGACCCGCCTCACCCCTGTCCCCATCGGCGGCCCGCCCTTCCACCTCCTCCCTCCCTGGCCGAGAGACCGCGCTTACCGGCGGCGACAGCCCAAGCCGTAGAAGCCGGCGGGGCACGGCTCGCGACAGTACTTGCCGCGGTAGCCCGGCTCGCAGGCACACGTGCCGTCCACAGGGTGGCAGCGGCCGCGGAAGCACTGGCAGTAGCGATCGCAGCGCGCGCCGAACGTACGCTCGCGGCACTGACAGCGGCCGCTCTGCTGCTCGCAGGGAGACGAGTTGCAGGCGCACTGGTTGTTGCAGCTGCGGCCCCACCAGCCTGCGTGGCACAGGCAGGCGCCGGTCTGTGGGTCGCAGCGCGACGTGGCGCTGCAGTAGCACGCGCTGGCGCACTGCGCGCCCCACCAGCCGGGCTCACAGCGGCACGCGCCGCTCCGCGGGTGGCACGTGCCGTGCTGGCACTGGCACGCATGCTCGCAGCGCGCGCCCCAGCGCCGCGCGTGACAAGTACACTGGCCTGTCACGTCCTCGCACTGCCCGTGTGGGTGGCAGCTACACAGCTCCTTGCAGTCGGGGCCCCAGAACTGGCGCGGGCACTCTGCAGGGGAGGAGCGGAGGGGGTGGAAGGCCCCGGTGCTTGAGTAGGTGCCCCCAGCCAGCCGGAACCTGCCCGCGTCCCGCACTCCAGCCGCCACCTCTGGGGACCCGCCCCGAAGGCGGATCCGACCCCGCCCCACCTTGGACCCCGCCCCATCTCTCCAGGATTCCGCCCCACCGACCAATACCGGCCCGACCCCACGCTCACTGGTGTCGCAGTTGGCACCGAAGTAGCCGTGGCGGCAGCGGCACTCGCCAGGCCTCACGCACACCTCGTTCTCTGAGCACGTGGAGTTGCCTTCGCACACCGCTGTGGACGAGACAGGCCAGAGCTGCTGCGCGTCCTAGCCCCGCCCCCTCCCCCGCCCCAGGTCCCCGGGATGACCCACTCACCAATCCCACACTCGTCCCCTTGCTGCCTCCAGCCAGCGCAGCACGTGGGCACCTGGGAGCTGCGAGCAGAGGGAGGACATCTAAGCCCGATGCCCCTCCCCCAGCCCCCATCTGCTCCGGGCTCCTCCGCAGCCTCCGCACAGCCTCCCTGCCTCTGCAGTTGCGCTCCTGTCCTAGGGGGGTGGTTAATGAGGTCCTGCCAGGCAGTCGTCTGGCGGTGGAGGATTGCCACAAACAGACCTCACCGCCAAGAACTTTCCAGCCCAGAACCACCCACCCCATCTCACCTAACTCCTTTGTGTCCTCCTCCCACAGCCATTAGGCCTGAGAAAAGTGGCCTTGGAGTCCCAGGAAGGACAGCAGTGAGGCAGCAGCCAGGGAGAAGACCATGGGCCTCAGGACCTGCCCAAATGTGAGGGTCTAGGGCATCCCTCCAAGTGGAGGGCCCAGCCTAATGGGTGTCATGGATCCAGATGTCATGTGATGTGACATGATGAGGACGGCACTAGGACTAGCTGGGCCACAGGGACACACCTAGATGCCCAGTTGGGGTTGAGCTCCAGTGGGGAGGGGCAGCCTCTGGACAGGGGGACGGGGGGTGGCATGTAGACACAGTGAGGTGACCACTTGGCAGAGGGGCTTCTGGAGGGAGGTGGGGTGAGGCCCACCCAGCCACTAGGGAAGGAGCAGGCACATGGGGAGTCCTCCACGTGCAGGAGGAAAGTCAAACTGTGGCAAAAGGGCTCAGGGACCAGGGTGGAGGAAGGAGCTATTAGAGCATCTGTTTATGCCTTTGTTGTTGGTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAAACCTCTCAAGTAGCTGGAATTACAGGCACGTGCCACCACACATGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCGGCCTGTTTATGCTGATTGTCTTCCACTTGTTCCATTTGATTTGGCTTTACAGAGTACACAATGCTACCGCAGCACTTCAGGAGAGCACAACCTCTAAAACCCTGGGTGGATGGGGTGTGTGAGCACAAAGGTTTGGAGGCCCTGCCTGAGTGAAGCCATGATGGCTAGAGAGGGTTCGTAGGGGATGAGCTGGGGTTAGCCCACATTCAGGGGCAGAGGAGGCTGAGAAGGAAGAGCCACCAAGGCTGCGGGATC | CTTCCTGCGTCGAGAGGTGTTTCTCCCAGATACCCCGCGCTGTCATCCTTACCTACGACTTTGGGTAGTTTCTGCCTCCGGAGCGGGATCCGGGGCAGCTTCATGCTGATGCGACTGAAGCGCCCGCATAGTCGGTGCGGCGCCTTCTTCCTCCCAAGCGAAAGCTCCCTGCGGGGGCGGGGTCTGAGCGGAGGGGCGGGGCCGGGGCGGGGCCCAGGGGCGATTAGATCTCGGCCGGAGCCAAGCACAGAAGGGGCGGGGCCACGTCCGGGGCAGGGGCGCGGAAGGGTTGGATCTGGGTCCGGTGGCACCCAGAGGGTGCGGCCTGAACCCAGGCGAAAGCGGGGCAGTATCTGGGCTCACCGGCGCGTAGGGTCCTTGCCGCGGCAAGCGCAGCAGCAGCCGAGCAGCGAGAGCAGCAGGCAGACGAGCAGGACGAGCAGCGCGCCCGCGCCCATCACGCCCTTGCGCTGGTTGGTTTCTGTAGGGGGTTATGGGGTCAGCGCGGTTTCTGGCACCCCCTGCATTCCTTAACGGGACGCCCCTCATCCACTTACCTAGGTGGCAGGCACCAGTGACCGGGTCGCACGTGTCCTCGTGGCAGCTGCAGGCCTGAGCACAGTCCGCGCCGTGGAGTCCGGGCGGGCACGTCACGTTACAGCTGCCGGGACATAGGGTCAAGGCATGCCACAGCCGCCCCCCTAGGATGCCCCCTACCCTCACCCCTCACCCGCGGCCAGGGCCCAGGGTCCAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAACGTGAGCTCCCCGACATCCAGGCAGGAAACTGCCCCCAAAGAGCCTACTGTCACTCCCTAGCTGGGGTAAGGGACCAAGGCTGAGGTGATAACCCAGCTCAGGGTGGAGAGGCCACCTCGTCGGCTGGACCCCCCTCTGTGGCAGGTACAAGCCCCCAACCCCCTCCCGGTCCCGGGGCACTCACTGGGGCCCGTGGACGCCAGGGCTGCACAGGCAGCGCCCCGACTGGAAGTCGCAGTGTCCGCTGCCGCAGTCGGCGCACACGAAGGCGCAGTCCTCGCCGTAAGTGCCATTGCTACACTTGGTCTCGCACCTTGGAAAGAGGGGAGGAGGCGTCAGCAGAAATGGAGGCAAACGGACCACAGCGCCCTCGACATTGGGGCCTTTGTTAGGGAGGCAGGGCGGGGGACTGCGTGTCTGGGCCGACGCAGGCAGGGCTGCTCACCGGTCGCCGATCCAGCCCGCGTTGCAGCGCGTACACTTGCCGGTGACATGGTTACAGGCATGCCCGTCGCGGCATGGCGGACAGCGGTGGCTGCAGCCCTCGCCATAGAAACCGGTGGCGCAAGGCTGGTCGCACTTGGTTCCGTTCCAGCCGGGCTCGCACGTCAAGCAGCGGCCCTCGGCCACCGTGCACGGCTGCTGGCCCTTGCACTGGCCACACCTGGGGGAGGGGTCGGAGGCTAGGGAAGGCTGGGACCCGCCTCACCCCTGTCCCCATCGGCGGCCCGCCCTTCCACCTCCTCCCTCCCTGGCCGAGAGACCGCGCTTACCGGCGGCGACAGCCCAAGCCGTAGAAGCCGGCGGGGCACGGCTCGCGACAGTACTTGCCGCGGTAGCCCGGCTCGCAGGCACACGTGCCGTCCACAGGGTGGCAGCGGCCGCGGAAGCACTGGCAGTAGCGATCGCAGCGCGCGCCGAACGTACGCTCGCGGCACTGACAGCGGCCGCTCTGCTGCTCGCAGGGAGACGAGTTCCAGGCGCACTGGTTGTTGCAGCTGCGGCCCCACCAGCCTGCGTGGCACAGGCAGGCGCCGGTCTGTGGGTCGCAGCGCGACGTGGCGCTGCAGTAGCACGCGCTGGCGCACTGCGCGCCCCACCAGCCGGGCTCACAGCGGCACGCGCCGCTCCGCGGGTGGCACGTGCCGTGCTGGCACTGGCACGCATGCTCGCAGCGCGCGCCCCAGCGCCGCGCGTGACAAGTACACTGGCCTGTCACGTCCTCGCACTGCCCGTGTGGGTGGCAGCTACACAGCTCCTTGCAGTCGGGGCCCCAGAACTGGCGCGGGCACTCTGCAGGGGAGGAGCGGAGGGGGTGGAAGGCCCCGGTGCTTGAGTAGGTGCCCCCAGCCAGCCGGAACCTGCCCGCGTCCCGCACTCCAGCCGCCACCTCTGGGGACCCGCCCCGAAGGCGGATCCGACCCCGCCCCACCTTGGACCCCGCCCCATCTCTCCAGGATTCCGCCCCACCGACCAATACCGGCCCGACCCCACGCTCACTGGTGTCGCAGTTGGCACCGAAGTAGCCGTGGCGGCAGCGGCACTCGCCAGGCCTCACGCACACCTCGTTCTCTGAGCACGTGGAGTTGCCTTCGCACACCGCTGTGGACGAGACAGGCCAGAGCTGCTGCGCGTCCTAGCCCCGCCCCCTCCCCCGCCCCAGGTCCCCGGGATGACCCACTCACCAATCCCACACTCGTCCCCTTGCTGCCTCCAGCCAGCGCAGCACGTGGGCACCTGGGAGCTGCGAGCAGAGGGAGGACATCTAAGCCCGATGCCCCTCCCCCAGCCCCCATCTGCTCCGGGCTCCTCCGCAGCCTCCGCACAGCCTCCCTGCCTCTGCAGTTGCGCTCCTGTCCTAGGGGGGTGGTTAATGAGGTCCTGCCAGGCAGTCGTCTGGCGGTGGAGGATTGCCACAAACAGACCTCACCGCCAAGAACTTTCCAGCCCAGAACCACCCACCCCATCTCACCTAACTCCTTTGTGTCCTCCTCCCACAGCCATTAGGCCTGAGAAAAGTGGCCTTGGAGTCCCAGGAAGGACAGCAGTGAGGCAGCAGCCAGGGAGAAGACCATGGGCCTCAGGACCTGCCCAAATGTGAGGGTCTAGGGCATCCCTCCAAGTGGAGGGCCCAGCCTAATGGGTGTCATGGATCCAGATGTCATGTGATGTGACATGATGAGGACGGCACTAGGACTAGCTGGGCCACAGGGACACACCTAGATGCCCAGTTGGGGTTGAGCTCCAGTGGGGAGGGGCAGCCTCTGGACAGGGGGACGGGGGGTGGCATGTAGACACAGTGAGGTGACCACTTGGCAGAGGGGCTTCTGGAGGGAGGTGGGGTGAGGCCCACCCAGCCACTAGGGAAGGAGCAGGCACATGGGGAGTCCTCCACGTGCAGGAGGAAAGTCAAACTGTGGCAAAAGGGCTCAGGGACCAGGGTGGAGGAAGGAGCTATTAGAGCATCTGTTTATGCCTTTGTTGTTGGTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAAACCTCTCAAGTAGCTGGAATTACAGGCACGTGCCACCACACATGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCGGCCTGTTTATGCTGATTGTCTTCCACTTGTTCCATTTGATTTGGCTTTACAGAGTACACAATGCTACCGCAGCACTTCAGGAGAGCACAACCTCTAAAACCCTGGGTGGATGGGGTGTGTGAGCACAAAGGTTTGGAGGCCCTGCCTGAGTGAAGCCATGATGGCTAGAGAGGGTTCGTAGGGGATGAGCTGGGGTTAGCCCACATTCAGGGGCAGAGGAGGCTGAGAAGGAAGAGCCACCAAGGCTGCGGGATC 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Task1_train_28602 | This mutation is located in gene SCARF2 (scavenger receptor class F member 2) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Van den Ende-Gupta syndrome | CAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAACGTGAGCTCCCCGACATCCAGGCAGGAAACTGCCCCCAAAGAGCCTACTGTCACTCCCTAGCTGGGGTAAGGGACCAAGGCTGAGGTGATAACCCAGCTCAGGGTGGAGAGGCCACCTCGTCGGCTGGACCCCCCTCTGTGGCAGGTACAAGCCCCCAACCCCCTCCCGGTCCCGGGGCACTCACTGGGGCCCGTGGACGCCAGGGCTGCACAGGCAGCGCCCCGACTGGAAGTCGCAGTGTCCGCTGCCGCAGTCGGCGCACACGAAGGCGCAGTCCTCGCCGTAAGTGCCATTGCTACACTTGGTCTCGCACCTTGGAAAGAGGGGAGGAGGCGTCAGCAGAAATGGAGGCAAACGGACCACAGCGCCCTCGACATTGGGGCCTTTGTTAGGGAGGCAGGGCGGGGGACTGCGTGTCTGGGCCGACGCAGGCAGGGCTGCTCACCGGTCGCCGATCCAGCCCGCGTTGCAGCGCGTACACTTGCCGGTGACATGGTTACAGGCATGCCCGTCGCGGCATGGCGGACAGCGGTGGCTGCAGCCCTCGCCATAGAAACCGGTGGCGCAAGGCTGGTCGCACTTGGTTCCGTTCCAGCCGGGCTCGCACGTCAAGCAGCGGCCCTCGGCCACCGTGCACGGCTGCTGGCCCTTGCACTGGCCACACCTGGGGGAGGGGTCGGAGGCTAGGGAAGGCTGGGACCCGCCTCACCCCTGTCCCCATCGGCGGCCCGCCCTTCCACCTCCTCCCTCCCTGGCCGAGAGACCGCGCTTACCGGCGGCGACAGCCCAAGCCGTAGAAGCCGGCGGGGCACGGCTCGCGACAGTACTTGCCGCGGTAGCCCGGCTCGCAGGCACACGTGCCGTCCACAGGGTGGCAGCGGCCGCGGAAGCACTGGCAGTAGCGATCGCAGCGCGCGCCGAACGTACGCTCGCGGCACTGACAGCGGCCGCTCTGCTGCTCGCAGGGAGACGAGTTGCAGGCGCACTGGTTGTTGCAGCTGCGGCCCCACCAGCCTGCGTGGCACAGGCAGGCGCCGGTCTGTGGGTCGCAGCGCGACGTGGCGCTGCAGTAGCACGCGCTGGCGCACTGCGCGCCCCACCAGCCGGGCTCACAGCGGCACGCGCCGCTCCGCGGGTGGCACGTGCCGTGCTGGCACTGGCACGCATGCTCGCAGCGCGCGCCCCAGCGCCGCGCGTGACAAGTACACTGGCCTGTCACGTCCTCGCACTGCCCGTGTGGGTGGCAGCTACACAGCTCCTTGCAGTCGGGGCCCCAGAACTGGCGCGGGCACTCTGCAGGGGAGGAGCGGAGGGGGTGGAAGGCCCCGGTGCTTGAGTAGGTGCCCCCAGCCAGCCGGAACCTGCCCGCGTCCCGCACTCCAGCCGCCACCTCTGGGGACCCGCCCCGAAGGCGGATCCGACCCCGCCCCACCTTGGACCCCGCCCCATCTCTCCAGGATTCCGCCCCACCGACCAATACCGGCCCGACCCCACGCTCACTGGTGTCGCAGTTGGCACCGAAGTAGCCGTGGCGGCAGCGGCACTCGCCAGGCCTCACGCACACCTCGTTCTCTGAGCACGTGGAGTTGCCTTCGCACACCGCTGTGGACGAGACAGGCCAGAGCTGCTGCGCGTCCTAGCCCCGCCCCCTCCCCCGCCCCAGGTCCCCGGGATGACCCACTCACCAATCCCACACTCGTCCCCTTGCTGCCTCCAGCCAGCGCAGCACGTGGGCACCTGGGAGCTGCGAGCAGAGGGAGGACATCTAAGCCCGATGCCCCTCCCCCAGCCCCCATCTGCTCCGGGCTCCTCCGCAGCCTCCGCACAGCCTCCCTGCCTCTGCAGTTGCGCTCCTGTCCTAGGGGGGTGGTTAATGAGGTCCTGCCAGGCAGTCGTCTGGCGGTGGAGGATTGCCACAAACAGACCTCACCGCCAAGAACTTTCCAGCCCAGAACCACCCACCCCATCTCACCTAACTCCTTTGTGTCCTCCTCCCACAGCCATTAGGCCTGAGAAAAGTGGCCTTGGAGTCCCAGGAAGGACAGCAGTGAGGCAGCAGCCAGGGAGAAGACCATGGGCCTCAGGACCTGCCCAAATGTGAGGGTCTAGGGCATCCCTCCAAGTGGAGGGCCCAGCCTAATGGGTGTCATGGATCCAGATGTCATGTGATGTGACATGATGAGGACGGCACTAGGACTAGCTGGGCCACAGGGACACACCTAGATGCCCAGTTGGGGTTGAGCTCCAGTGGGGAGGGGCAGCCTCTGGACAGGGGGACGGGGGGTGGCATGTAGACACAGTGAGGTGACCACTTGGCAGAGGGGCTTCTGGAGGGAGGTGGGGTGAGGCCCACCCAGCCACTAGGGAAGGAGCAGGCACATGGGGAGTCCTCCACGTGCAGGAGGAAAGTCAAACTGTGGCAAAAGGGCTCAGGGACCAGGGTGGAGGAAGGAGCTATTAGAGCATCTGTTTATGCCTTTGTTGTTGGTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAAACCTCTCAAGTAGCTGGAATTACAGGCACGTGCCACCACACATGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCGGCCTGTTTATGCTGATTGTCTTCCACTTGTTCCATTTGATTTGGCTTTACAGAGTACACAATGCTACCGCAGCACTTCAGGAGAGCACAACCTCTAAAACCCTGGGTGGATGGGGTGTGTGAGCACAAAGGTTTGGAGGCCCTGCCTGAGTGAAGCCATGATGGCTAGAGAGGGTTCGTAGGGGATGAGCTGGGGTTAGCCCACATTCAGGGGCAGAGGAGGCTGAGAAGGAAGAGCCACCAAGGCTGCGGGATCCTAGGTTCCCAGCCGACCCAGAACTTCGCCTCGATCCTAAAGGCATGTAACAGCCATTCGCACTTTAGAGAAAAGGAGCACGCTTCTTCACAAGCAGGCTTGGATTCAGTATCTGAATCTAGAACCGGAAGGTGGTGGGGGGCGGAGTTTGGGAGGAAGCCTGAAGACCCTAGCGGGATGGGATAGACTGGCCCTACACCATGCATTTCAGGATAGTACATGCCTGGCATGCTCCTGCCCAGGCTTCCGAGGATGCCCCAGCCATTCCCCAGCTAGACAGAATACCACCCCTTGTACAGAGCACCTAGGCCTCGAGGCCCCTCCTCCTGAACAAGGCTTGGTTCTCCTTCAGGCCAAAGATGGGACCTGGCGAACAGGACCATAAAATCTCAAACTTTGGGGAATTGGTCCAGTGTATTTTCCACAATAAAACTGGAAACCAGAGACAGGAATACAAAGGCCTGGCTTTTCCTGGCCCCTGCCCCCACTGTCTCCACCCACCCAGCCCTGACCCAGGGGGCACCAAGGTGCCCATCTGCAGGGAGACCCAGGTCTGCTGGCCATCACCCACCCACTTGTGTCTGCTTCTGAACCATGTTCACTGGATGGAGAGCCTCTGCAGGTGTCCCTCCTGTGGGGAGCTTTGCCAGGTGGCCTGCTGGAATTGCCCCGGAAGCACTAACCCCCTTCTGCCCTGGACATAAGGCTCTGTGGCTAGGACCCTCGTTTTAGGGCCACACTCAGCTGGGTT 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CAGGGTCCCAGAACCGGGCTCTCTCTCGCTGCATTCGTCGTCTAGGGATTGAAGCCCCGCCCCGCCCGTGGCACATATTGGGTAGTGGATGTTTTGGAAACGAATGTTGCACAACACTAGTGGGGGGGCCTGGGGGATAGGACCCGTGGTGGCCGCGCCGCAGCGCCCACTGCTGGGGCTGACTCGGCTAGGTGGGAAGAGGGGCTGCTGAACCAGACCCTTGGCTGTAAGTGGAGGTCCCTGGTCCTTCTGTACCAACTCGGGGTCACCTTAAGAGCCCACTGACACAGGCTGGACTGGTCACCAGATCCTGCGCTGAACGTGAGCTCCCCGACATCCAGGCAGGAAACTGCCCCCAAAGAGCCTACTGTCACTCCCTAGCTGGGGTAAGGGACCAAGGCTGAGGTGATAACCCAGCTCAGGGTGGAGAGGCCACCTCGTCGGCTGGACCCCCCTCTGTGGCAGGTACAAGCCCCCAACCCCCTCCCGGTCCCGGGGCACTCACTGGGGCCCGTGGACGCCAGGGCTGCACAGGCAGCGCCCCGACTGGAAGTCGCAGTGTCCGCTGCCGCAGTCGGCGCACACGAAGGCGCAGTCCTCGCCGTAAGTGCCATTGCTACACTTGGTCTCGCACCTTGGAAAGAGGGGAGGAGGCGTCAGCAGAAATGGAGGCAAACGGACCACAGCGCCCTCGACATTGGGGCCTTTGTTAGGGAGGCAGGGCGGGGGACTGCGTGTCTGGGCCGACGCAGGCAGGGCTGCTCACCGGTCGCCGATCCAGCCCGCGTTGCAGCGCGTACACTTGCCGGTGACATGGTTACAGGCATGCCCGTCGCGGCATGGCGGACAGCGGTGGCTGCAGCCCTCGCCATAGAAACCGGTGGCGCAAGGCTGGTCGCACTTGGTTCCGTTCCAGCCGGGCTCGCACGTCAAGCAGCGGCCCTCGGCCACCGTGCACGGCTGCTGGCCCTTGCACTGGCCACACCTGGGGGAGGGGTCGGAGGCTAGGGAAGGCTGGGACCCGCCTCACCCCTGTCCCCATCGGCGGCCCGCCCTTCCACCTCCTCCCTCCCTGGCCGAGAGACCGCGCTTACCGGCGGCGACAGCCCAAGCCGTAGAAGCCGGCGGGGCACGGCTCGCGACAGTACTTGCCGCGGTAGCCCGGCTCGCAGGCACACGTGCCGTCCACAGGGTGGCAGCGGCCGCGGAAGCACTGGCAGTAGCGATCGCAGCGCGCGCCGAACGTACGCTCGCGGCACTGACAGCGGCCGCTCTGCTGCTCGCAGGGAGACGAGTTGCAGGCGCACTGGTTGTTGCAGCTGCGGCCCCACCAGCCTGCGTGGCACAGGCAGGCGCCGGTCTGTGGGTCGCAGCGCGACGTGGCGCTGCAGTAGCACGCGCTGGCGCACTGCGCGCCCCACCAGCCGGGCTCACAGCGGCACGCGCCGCTCCGCGGGTGGCACGTGCCGTGCTGGCACTGGCACGCATGCTCGCAGCGCGCGCCCCAGCGCCGCGCGTGACAAGTACACTGGCCTGTCACGTCCTCGCACTGCCCGTGTGGGTGGCAGCTACACAGCTCCTTGCAGTCGGGGCCCCAGAACTGGCGCGGGCACTCTGCAGGGGAGGAGCGGAGGGGGTGGAAGGCCCCGGTGCTTGAGTAGGTGCCCCCAGCCAGCCGGAACCTGCCCGCGTCCCGCACTCCAGCCGCCACCTCTGGGGACCCGCCCCGAAGGCGGATCCGACCCCGCCCCACCTTGGACCCCGCCCCATCTCTCCAGGATTCCGCCCCACCGACCAATACCGGCCCGACCCCACGCTCACTGGTGTCGCAGTTGGCACCGAAGTAGCCGTGGCGGCAGCGGCACTCGCCAGGCCTCACGCACACCTCGTTCTCTGAGCACGTGGAGTTGCCTTCGCACACCGCTGTGGACGAGACAGGCCAGAGCTGCTGCGCGTCCTAGCCCCGCCCCCTCCCCCGCCCCAGGTCCCCGGGATGACCCACTCACCAATCCCACACTCGTCCCCTTGCTGCCTCCAGCCAGCGCAGCGCGTGGGCACCTGGGAGCTGCGAGCAGAGGGAGGACATCTAAGCCCGATGCCCCTCCCCCAGCCCCCATCTGCTCCGGGCTCCTCCGCAGCCTCCGCACAGCCTCCCTGCCTCTGCAGTTGCGCTCCTGTCCTAGGGGGGTGGTTAATGAGGTCCTGCCAGGCAGTCGTCTGGCGGTGGAGGATTGCCACAAACAGACCTCACCGCCAAGAACTTTCCAGCCCAGAACCACCCACCCCATCTCACCTAACTCCTTTGTGTCCTCCTCCCACAGCCATTAGGCCTGAGAAAAGTGGCCTTGGAGTCCCAGGAAGGACAGCAGTGAGGCAGCAGCCAGGGAGAAGACCATGGGCCTCAGGACCTGCCCAAATGTGAGGGTCTAGGGCATCCCTCCAAGTGGAGGGCCCAGCCTAATGGGTGTCATGGATCCAGATGTCATGTGATGTGACATGATGAGGACGGCACTAGGACTAGCTGGGCCACAGGGACACACCTAGATGCCCAGTTGGGGTTGAGCTCCAGTGGGGAGGGGCAGCCTCTGGACAGGGGGACGGGGGGTGGCATGTAGACACAGTGAGGTGACCACTTGGCAGAGGGGCTTCTGGAGGGAGGTGGGGTGAGGCCCACCCAGCCACTAGGGAAGGAGCAGGCACATGGGGAGTCCTCCACGTGCAGGAGGAAAGTCAAACTGTGGCAAAAGGGCTCAGGGACCAGGGTGGAGGAAGGAGCTATTAGAGCATCTGTTTATGCCTTTGTTGTTGGTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAAACCTCTCAAGTAGCTGGAATTACAGGCACGTGCCACCACACATGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCGGCCTGTTTATGCTGATTGTCTTCCACTTGTTCCATTTGATTTGGCTTTACAGAGTACACAATGCTACCGCAGCACTTCAGGAGAGCACAACCTCTAAAACCCTGGGTGGATGGGGTGTGTGAGCACAAAGGTTTGGAGGCCCTGCCTGAGTGAAGCCATGATGGCTAGAGAGGGTTCGTAGGGGATGAGCTGGGGTTAGCCCACATTCAGGGGCAGAGGAGGCTGAGAAGGAAGAGCCACCAAGGCTGCGGGATCCTAGGTTCCCAGCCGACCCAGAACTTCGCCTCGATCCTAAAGGCATGTAACAGCCATTCGCACTTTAGAGAAAAGGAGCACGCTTCTTCACAAGCAGGCTTGGATTCAGTATCTGAATCTAGAACCGGAAGGTGGTGGGGGGCGGAGTTTGGGAGGAAGCCTGAAGACCCTAGCGGGATGGGATAGACTGGCCCTACACCATGCATTTCAGGATAGTACATGCCTGGCATGCTCCTGCCCAGGCTTCCGAGGATGCCCCAGCCATTCCCCAGCTAGACAGAATACCACCCCTTGTACAGAGCACCTAGGCCTCGAGGCCCCTCCTCCTGAACAAGGCTTGGTTCTCCTTCAGGCCAAAGATGGGACCTGGCGAACAGGACCATAAAATCTCAAACTTTGGGGAATTGGTCCAGTGTATTTTCCACAATAAAACTGGAAACCAGAGACAGGAATACAAAGGCCTGGCTTTTCCTGGCCCCTGCCCCCACTGTCTCCACCCACCCAGCCCTGACCCAGGGGGCACCAAGGTGCCCATCTGCAGGGAGACCCAGGTCTGCTGGCCATCACCCACCCACTTGTGTCTGCTTCTGAACCATGTTCACTGGATGGAGAGCCTCTGCAGGTGTCCCTCCTGTGGGGAGCTTTGCCAGGTGGCCTGCTGGAATTGCCCCGGAAGCACTAACCCCCTTCTGCCCTGGACATAAGGCTCTGTGGCTAGGACCCTCGTTTTAGGGCCACACTCAGCTGGGTT 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Task1_train_28603 | Gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | TGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATCTCATCCGTCAGCTTGATGTCGGGTTCCCAGCCGAGATTGCCGCCCGGCGAGCTTTCAAACATGAAGCCAAAGTCTGCAAAACCCCAAAGAGCTGCCTGTGACTGGGTAGGAGCCAGGGCGGGCAAGGACAAGTGGTCTGTTTTGAGGAGTGGAAAAGGACTGCAACAGGAGCACCCCCTCCACCCCCAACAGGCAGGTTGTGTTTTCTTGGAGACAGTGATGGGGTGGGTGGTGGGGCAGCAGGCAGAGAAAGAGAAGGGAGGAAGTGGAGGAAGGAGCCAAGCTGGGGCACTGAACCTGGACCAGCCCCACTCCGCCCAGCTCCAGCTTCTGACTCAGAGCAATGGCGGCTCTCGCCCTAGCTCCCTGGGGCCGGGGCCAGGCACCCTCTACAGCAGAACAGCTTGGTGGCCGACAGTTCGGACCTCAGAGCTGGACCCTGACACTCCTGGCAGGGTGGTCCTGGGCATTCTCCTCTCTGTGGGGTGGGGATCCCTATCCACCCCTGGGTGCCAGGGGTGAAGGGAGAGGAGGGTGGCGCTGTGGCTGGCTGACCGATGTGGATGATATGACCCTTCTTGTCCAGCATAATGTTGCCGTTGTGTCTGTCCTTGATCTGCAGCAGGAACAGCAGGAGGCTGTAGGCGGCCATGCTTCGGATGAAGTTGTAGCGGGCCTGTGCAGAGAGCGCCCTGGGCTCAAAAAGGCCCTGGGGCCTGTGGGCATTCTCCCTGGTCCCACACCCAGGATCCCTGGGCCTGTGGGCACTCTCCCTGGCTCTGTACCCCCACTGTGGAAGCAGAGCCCGAATCAGCAAGCCAGTCTTCGGTAGCAGGAGTGACAGGGGCTCTCTGTGGAAGTGGGCGTGCAGGCACTTCCTCCCACACTCAGAACTTAACTTTCTTCTAAGGAGTCCAACCCAGCCCTACATTCTTTTGACTCCCAAAGTGGCTTACAGATGCCCTGGTGTTTTTTTTTTAAATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGTTAATTTTTTTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCACTGCGCCCGGCCAGGTGCCCTGGTTTTTTTGTGTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTCACCATTTTGGCCAGGATGGTTTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAGGTGCCCTGGTTTTAACCCTTAACAAAGGATGACTGAGGAGAGCAGGGTGTGGGTGGAGGCTGGGTATGGGTGGCTGGGGTGGGGTGGAGCACACACGACCTCCCCCGGCCTGTGGCCACCCTGGCTACCTGCTGGAAGGCCAGAGTGGACTCATCCCCGTACTGGCGTGTGAAGTAGTCGTACATGCCGAAGTCTGTCTGGCGGCCCAGCTGGTCCCGGGAGGTGCAGTCGGGGATGCACTCGATCACCCCGCACTAGGAGGAAAGGCCAGTTCTGAGGCCCGCTGGGTGCGAGGTGCCCAGGGCTGCCCTACTGGCTCCACTCAGGGAACTTACCCCAGGGGCAGTGGCCACCACGCGGTAGGGAAAAACAAAGAGGTCCAGGCCGACCAGCTGGAAGATGTTCTTGAAGAGGTCGATGATCTGCAGGGCCAGCATGTCCTGGGAAGCCGGGAGGCGCAGGATGCGGTCAGTTGGCGTCCTTGCACCCCAGCAGCTCTTCTGGCTCATGCAGGGCAAAAGCCAAGCACCCAGAGATGGAGTGAGGTGGGGAGACCACAGCCGAGCAAGAGTCTGGAAGGCCTTCCTTTCTGACCACCGGGGGCTGGACTCAGGCTGCTGGGACCACCAGGCCCTGGGCTGAGCATGAGGCTGAGCTGTCTGGTGGGGTGTGTGAGATAAGGCACCCAACCCCTGGACAGTTCCCTCAGGTGGGCACTGGCATGGCGGGGACAGTGGGAAAGGGGCTGGAAGGAGAGGCCTCTGGGTTTTGCAGAAGCCCTAATTTACCCCGTGGCACCTGAACCATATAAGAGAAGGAAAAGATTCACATTTCTGCATATGAGATTGGACTCTGGCGGGCCTGGAGCCTTGGGGAGCAGCAAGCCCAGTCCCCAAGCCTACTCGAGGCCTGACCCTGCTTACCTGCCGGCAGTCGTCTCCCACCTTGAAGATGGCTGCCTGCCAGGAGATCTTCTGGCCGTCGGCCTCCTGCGTGCTGCACTCATCCTCGGAGTCTGAGCGGCACCGCAGACCTGCCCGCAGGGAGAGAGGCCGCTGTTAGCCTGTAGGCAGTGAGAAGCCCTCTGAGGGGGCCAGGGATGAGTCCTCTCACATGCCTGAAAGGAACCCCAGCAATCTTGGGGATCACTTCTTCAAAACCCCAAGGAGGCCAAGGAGGAGCCCAGCAGGGCCCAAGGAAAGCCTTGGAACAGCAGGTGGAATCCAGGGTTGGAGTCTAAGAACATTTAGGCTTAAATGGAACTAAAAACAGAGCCCCATTTCATCTGCAGTGAAGACCCAGGTGTGCCTGGGTCAGTGTTGGGTGCTGTGAGCTAGGGGGCAGGAGGAATGTGTCTGTACACTGGGGTCCTGGGAGGGCTCGGGGCCAGCGTGCAGACATGGCCATGGGAGGCAGGTCCCTGCAAGGGGTGGCAGCCCCCTCTCCACAGCTGGCCACACCGTCTGTACTGGGTTGAAGAGTGTCTCCCTAAAATTCATGTTCACCCCAAACCTTAAAATGTGTCCTTATTTGGAAACAGGGTCTTTGCAGATGTAATTAGGTTAAGACAAGGTCACAGTGGATTAGGACAGTCCCTAATCCAATGACTGATGTCCTTCAAGGGAGATCATCATGTGAAGAGGGAGGCGGAGATGGGAGTGGAGCATCTGCAGGCCAAGGAGTGCCAGGACTGCTGGCAACACCACCAGAAGCTGAGGAGGCAAGGTGTGACCTGCCCAGAGCCTTCAGAGGGGGCACGGCCCTGATGATGGACTCCAGCCTCCAGAACTGAGATCGTCCGTACGGTAGCCCTGGGAAACTAACACCCCCCAACAGCCCCGGGCCCCTCAGCCTCAGGAAGGAGCCTGCTGGAGCATGCCAGCTGACTCACGGCAGACAGACCTCTGGGGTGGCACATCTGTCAGTGCATTTGAGCTCCCTGCCATCCCCCAATGAGGGATCTGACTGAGTGAGGGCAGACAGATGGACAGACATCATCTTTTATGGAGAGCTATACTAAATTTAACACATGCCAGAAGAAACTGGCATTAGCAAGGAAAAGCACTGAGCTCCCAAACAAAATCAGGGTTCTTTACTGACCTTCTTTTTCAAGTTCACTAACTCCACATCGCTTCACCTTGAACTTGGCCAGATATGGGGCTTTTGCAGCACTGAAAACAACAAAAAGAATGTGGCACCCATGA 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TGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATCTCATCCGTCAGCTTGATGTCGGGTTCCCAGCCGAGATTGCCGCCCGGCGAGCTTTCAAACATGAAGCCAAAGTCTGCAAAACCCCAAAGAGCTGCCTGTGACTGGGTAGGAGCCAGGGCGGGCAAGGACAAGTGGTCTGTTTTGAGGAGTGGAAAAGGACTGCAACAGGAGCACCCCCTCCACCCCCAACAGGCAGGTTGTGTTTTCTTGGAGACAGTGATGGGGTGGGTGGTGGGGCAGCAGGCAGAGAAAGAGAAGGGAGGAAGTGGAGGAAGGAGCCAAGCTGGGGCACTGAACCTGGACCAGCCCCACTCCGCCCAGCTCCAGCTTCTGACTCAGAGCAATGGCGGCTCTCGCCCTAGCTCCCTGGGGCCGGGGCCAGGCACCCTCTACAGCAGAACAGCTTGGTGGCCGACAGTTCGGACCTCAGAGCTGGACCCTGACACTCCTGGCAGGGTGGTCCTGGGCATTCTCCTCTCTGTGGGGTGGGGATCCCTATCCACCCCTGGGTGCCAGGGGTGAAGGGAGAGGAGGGTGGCGCTGTGGCTGGCTGACCGATGTGGATGATATGACCCTTCTTGTCCAGCATAATGTTGCCGTTGTGTCTGTCCTTGATCTGCAGCAGGAACAGCAGGAGGCTGTAGGCGGCCATGCTTCGGATGAAGTTGTAGCGGGCCTGTGCAGAGAGCGCCCTGGGCTCAAAAAGGCCCTGGGGCCTGTGGGCATTCTCCCTGGTCCCACACCCAGGATCCCTGGGCCTGTGGGCACTCTCCCTGGCTCTGTACCCCCACTGTGGAAGCAGAGCCCGAATCAGCAAGCCAGTCTTCGGTAGCAGGAGTGACAGGGGCTCTCTGTGGAAGTGGGCGTGCAGGCACTTCCTCCCACACTCAGAACTTAACTTTCTTCTAAGGAGTCCAACCCAGCCCTACATTCTTTTGACTCCCAAAGTGGCTTACAGATGCCCTGGTGTTTTTTTTTTAAATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGTTAATTTTTTTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCACTGCGCCCGGCCAGGTGCCCTGGTTTTTTTGTGTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTCACCATTTTGGCCAGGATGGTTTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAGGTGCCCTGGTTTTAACCCTTAACAAAGGATGACTGAGGAGAGCAGGGTGTGGGTGGAGGCTGGGTATGGGTGGCTGGGGTGGGGTGGAGCACACACGACCTCCCCCGGCCTGTGGCCACCCTGGCTACCTGCTGGAAGGCCAGAGTGGACTCATCCTCGTACTGGCGTGTGAAGTAGTCGTACATGCCGAAGTCTGTCTGGCGGCCCAGCTGGTCCCGGGAGGTGCAGTCGGGGATGCACTCGATCACCCCGCACTAGGAGGAAAGGCCAGTTCTGAGGCCCGCTGGGTGCGAGGTGCCCAGGGCTGCCCTACTGGCTCCACTCAGGGAACTTACCCCAGGGGCAGTGGCCACCACGCGGTAGGGAAAAACAAAGAGGTCCAGGCCGACCAGCTGGAAGATGTTCTTGAAGAGGTCGATGATCTGCAGGGCCAGCATGTCCTGGGAAGCCGGGAGGCGCAGGATGCGGTCAGTTGGCGTCCTTGCACCCCAGCAGCTCTTCTGGCTCATGCAGGGCAAAAGCCAAGCACCCAGAGATGGAGTGAGGTGGGGAGACCACAGCCGAGCAAGAGTCTGGAAGGCCTTCCTTTCTGACCACCGGGGGCTGGACTCAGGCTGCTGGGACCACCAGGCCCTGGGCTGAGCATGAGGCTGAGCTGTCTGGTGGGGTGTGTGAGATAAGGCACCCAACCCCTGGACAGTTCCCTCAGGTGGGCACTGGCATGGCGGGGACAGTGGGAAAGGGGCTGGAAGGAGAGGCCTCTGGGTTTTGCAGAAGCCCTAATTTACCCCGTGGCACCTGAACCATATAAGAGAAGGAAAAGATTCACATTTCTGCATATGAGATTGGACTCTGGCGGGCCTGGAGCCTTGGGGAGCAGCAAGCCCAGTCCCCAAGCCTACTCGAGGCCTGACCCTGCTTACCTGCCGGCAGTCGTCTCCCACCTTGAAGATGGCTGCCTGCCAGGAGATCTTCTGGCCGTCGGCCTCCTGCGTGCTGCACTCATCCTCGGAGTCTGAGCGGCACCGCAGACCTGCCCGCAGGGAGAGAGGCCGCTGTTAGCCTGTAGGCAGTGAGAAGCCCTCTGAGGGGGCCAGGGATGAGTCCTCTCACATGCCTGAAAGGAACCCCAGCAATCTTGGGGATCACTTCTTCAAAACCCCAAGGAGGCCAAGGAGGAGCCCAGCAGGGCCCAAGGAAAGCCTTGGAACAGCAGGTGGAATCCAGGGTTGGAGTCTAAGAACATTTAGGCTTAAATGGAACTAAAAACAGAGCCCCATTTCATCTGCAGTGAAGACCCAGGTGTGCCTGGGTCAGTGTTGGGTGCTGTGAGCTAGGGGGCAGGAGGAATGTGTCTGTACACTGGGGTCCTGGGAGGGCTCGGGGCCAGCGTGCAGACATGGCCATGGGAGGCAGGTCCCTGCAAGGGGTGGCAGCCCCCTCTCCACAGCTGGCCACACCGTCTGTACTGGGTTGAAGAGTGTCTCCCTAAAATTCATGTTCACCCCAAACCTTAAAATGTGTCCTTATTTGGAAACAGGGTCTTTGCAGATGTAATTAGGTTAAGACAAGGTCACAGTGGATTAGGACAGTCCCTAATCCAATGACTGATGTCCTTCAAGGGAGATCATCATGTGAAGAGGGAGGCGGAGATGGGAGTGGAGCATCTGCAGGCCAAGGAGTGCCAGGACTGCTGGCAACACCACCAGAAGCTGAGGAGGCAAGGTGTGACCTGCCCAGAGCCTTCAGAGGGGGCACGGCCCTGATGATGGACTCCAGCCTCCAGAACTGAGATCGTCCGTACGGTAGCCCTGGGAAACTAACACCCCCCAACAGCCCCGGGCCCCTCAGCCTCAGGAAGGAGCCTGCTGGAGCATGCCAGCTGACTCACGGCAGACAGACCTCTGGGGTGGCACATCTGTCAGTGCATTTGAGCTCCCTGCCATCCCCCAATGAGGGATCTGACTGAGTGAGGGCAGACAGATGGACAGACATCATCTTTTATGGAGAGCTATACTAAATTTAACACATGCCAGAAGAAACTGGCATTAGCAAGGAAAAGCACTGAGCTCCCAAACAAAATCAGGGTTCTTTACTGACCTTCTTTTTCAAGTTCACTAACTCCACATCGCTTCACCTTGAACTTGGCCAGATATGGGGCTTTTGCAGCACTGAAAACAACAAAAAGAATGTGGCACCCATGA 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Task1_train_28604 | The gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spastic paraplegia 84, autosomal recessive | CCCCTCCCCAGCAGTTGTGGCCTTCCCGATGCGGGAACAGAGGCCCTGCATACATGTCCTGCCCTCTCTGGGAAGCCGTGCTGTTGTGTGAGCTCAACACAATGTGTTGGGAAGAAATGGTTAAACCGGGGTCCTGCAGGGCACTCCACAGCTGAGACCAGCCGCTGTGAACATCTGCACAGGACAGAGTTTGGAAGACAAGTTTGTGCCAATAGTTAGAAATGCAGAGAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATTGAGGCCATCCTGGCTAACACGGTGAAACTCTGACTCCACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCGACACAGCGAAACTCCATCTCAAAAAAACAACAACAAAAAAAGAAATGGAGAGAGAGCTGCCCAGTGAAGTCTGGATTTCCATCTTCTCTTGAAAAGCTCAGCTTGAATTCCCATGTGGCCACAGCCACAGGCACCCAGGAGCGACTTCCCATGGAGGCGGTGGGGGGGTGGTGCTGATGGGTCCCAGCACACCTGAGCCGTCCCACACTGGGCCCGCCATCCCCTCGTCTGTGTGACCTGCTCCTGTAATGCTGGAGCCTAGGAACCCTCTTCTAGAGTAACAGCTACTGAGGTCACTGTCAGCCTCCAGAAAAACAGCAGGCAGCAAGGAAGATGAAGGGCACCCACTGACGAGCAGCTCCCGCTCACTAGCGGCAGATTCTGGGGAGGGGCTGGGGTCCTGGGGCACCAGGCACCGTGGGCCCAAGCAGGTGTGGGGCTGGCCAAGCCACTGTGTCCACATCCTGCAGTGCCTGGAGAGGGCAGCAGCCTTCACGCCCCGCCGCCCGCCTGCAGGAAGAGGTTGGTCTGAGCCTCCAGAAGCCACCTGCTCACCCGGCTGCACCTTCACTTCAGACAGGGCCGACAGACAAGCCTTCTTTCTCTCGTCGCCTTTAGGGTAGGGCCTGAGAAACAGGAAAGAAATTCTTGCTTTGTCTCCTGGAGGAACTGGCTGCTGGGGGACAGCCCAGGGCCCCTCCTGCCTGGATTGCCCTCTCTGTCCCTCTCTTCCCGGCTCTAGCTGCTCCTAGCGCAGCCAGGCACCACTGGCAGCGATTCTTGCCCTGCATTCCTCATGGAGAATCCCCGACAGCCCCGGAAGGGCTGTTTTCTGGCAGGCTCTGCCCCTGCTGTGTGCGGGGGTGTGTGGCTGGGGGTGGTGGGGGTAATAATGCCTGCCACCTGCTGCCACCCAGGAAACGCTAGCTCCCGTCCTTCATCTCGTGGGTTAGAAGCTGCCAGCACTGCTATTCTCAGCACCCAGCCCAGAAAAGGACCTCAAAGTGACCAAGGTCAGAGCAGTGTAAGCACTGGAGACAGCCCAGCCAGCGTGCCCAGCATTGATGACTCCAGGGTTTCATCCCTTATGAATGCACAAAGCCATCAACATCCAAGGATGGTGTCAGGTCCACATGAATGGAAGGTCTAGGAAAACGATGACAGGACCTGCAAAGGCAGTCTGGTTTTCCTGACACCATGAGGATCGATCCTTCAAAGTGTGGAGAGGGCAGGGTGGCCTCAAATTGTGGAGCCATGTGCTAAATTCCACAAACCTCAGGAATGAAACTAAGCTGTGTTTCCTGAAACTGGCGTGGCCGTGCATTCTGCCATACCTTCAAGAGCCCTGGCTCACCCCAAGCAGTGCTTCCCCACCCACCCTGGCTGTCCATCAGAACCACCAGCGGCCCCGCTGCTAGAGACTCTCATTCATCTGGTTGGGGCCAGGCACGGGTATTTTTAAAGCTTCCCAGGCAATTCTGTTAAGCTGCAGGGACTGGAAGGAGATCCCAGAAGGTGGTTTCTGAAGCACTGCACTTACTTGATGATAGCCGACACGTTGGTGATCTTGTTAAAGAAATCAAACTCCCGCTGGTAAAAGTCCTTCGCTGGGCCGGACAAGGAGCCTGTGATCTCCTCTACCAACTGATCCAGGAGGTCGCCGATGTCAGCTGCCAAGGAAGCAAAGAGGCTTAAGTCTCTGTGGCTGTGGCAGAGGCCCCTCAGGAATACCAGCCCTGTTTCCCAGGCCCCAGACTGGCAGTGCCCAGAGTATGCTCTGCAGGCTTGGTGAGACCATAACAGCTGCCGTGTGCCCCTTTTGCTGTGTTGACACAGCTGACGCTGCTGGGAAGCTAAGCTGGTGCCTAAGCGGAGCTCAAGGCAGGGGCCAAGCGCACAAGTGGACGTGGAATCCTCACTGCTGCACACGCTACACACGCAGGAAGAAAAAAGCCCGTGTCATTTATGAATGTCACAGGGCATAGAATCCTCACTGCTGCACACGCAGGGAGAAAAAAGCCCGTGTCATTTATGAATGTCACAGGTGAAGCAATGAAAACTAATTCTTATTAAACTCTACCCTGAATACATGTCTTTTTTTTTTTTTAATAGAGGCACACAGTGGGCGGGGCTCTATATTAAATAGTGCCTCTCACTATTCAAATCCCAGGCTGAATTTAAATTCCTGGGCTCAAGAGATCCTCCTGTCTCAGTCACCTGAGTTGCTGGGACTACAGCTAGTAGGTGGGACTACAGGTGCGCATCACCACATCTGGCTTTTAAAGTATCCTTTGTGATGAAATGGGATGTGCACGAAGCACTCTTGCCGCATCTAAGGCAGGCGCTGTCCTGAGAAGCACCTGGAGCTTGTCTGATTTTGGAGCCTGGACTAACCTTTTTCACAGACCTTTGTTTTTACTTGAAGAAATGACTGACAGACAACATATAGCTATTCAGACTTAGGGATGTGGCAGATGTTTTCCTGAAAATGAACAAAAAATAAATCTTCCACTCAAAGGAACTGAAACATTTTTTTGGAAAACTTGGATCTGCTGCTGTGAGCTCAACAGCTTCCCTTAAAAACTCTTTCTGGGCCGGGCGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGACGTGAGTGGACCACAAGGTCAGGAAATTGAGACCATCCTGGCTAACATGGTGAAACACCGTCTCTACTGAAAATACAAAAAAATTAGCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACTAATCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCCTTTCTGGTAAGACTGGCAGATGTGAACAAATATGATTTTTCCACACTGTACAAAGAAATGCATCAACCTTTGAAAGATGTGCATAACTCACTGGCCTATATTTTACAAATGCCCACCGTTTGATGTTATAAAAGCTTTTGTGGGTCCAGGTGCGACGTAGACAGACTTGAACAAAACACAGCATGAGAAGTTTACTGCCAAGTTTAAGATGCCACACTGCAATTAACCTTTTTTTTGGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGACTGCAAGTAATCATTAAGAAGCTAGGCTGAGCTACAAAAAATTAAAAATTAGCCAGTCGTGGTGGCGTGCACCTATAGTCTCAGCTACTTGGGAGGATGAGGCAGGAGGATCGCTTAAGCCCAGGTGGTCAAGGCTGCAGTGAGCCGTGATTGCGCCACTGCATTCCTGCCTGGGAGAGGGACCCTGCCTCTAAAAAAATAAAACAAAAGCTACCACTTCTCAAGTGTGGTGCAGTATCAAAAAGAATCTCCACAATGACCTGAGAGACTACTAACATACAACTTCCTTTTTCAACTACATTCACTTCAACTGAAACAACACTGCAACAGATCAACTGCAGAAGTGGAACGAGAATGAGAATCCAGCCGTCTTCTACAAGGAAATGCCACTCTTTTGGCTCATTTTTTAGTTTTTTGGGGAAAGTTATTTTCCCAAAAAGATGTTATTTATATTAACATGTAATGAATGGGCT 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CCCCTCCCCAGCAGTTGTGGCCTTCCCGATGCGGGAACAGAGGCCCTGCATACATGTCCTGCCCTCTCTGGGAAGCCGTGCTGTTGTGTGAGCTCAACACAATGTGTTGGGAAGAAATGGTTAAACCGGGGTCCTGCAGGGCACTCCACAGCTGAGACCAGCCGCTGTGAACATCTGCACAGGACAGAGTTTGGAAGACAAGTTTGTGCCAATAGTTAGAAATGCAGAGAGAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATTGAGGCCATCCTGGCTAACACGGTGAAACTCTGACTCCACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCGACACAGCGAAACTCCATCTCAAAAAAACAACAACAAAAAAAGAAATGGAGAGAGAGCTGCCCAGTGAAGTCTGGATTTCCATCTTCTCTTGAAAAGCTCAGCTTGAATTCCCATGTGGCCACAGCCACAGGCACCCAGGAGCGACTTCCCATGGAGGCGGTGGGGGGGTGGTGCTGATGGGTCCCAGCACACCTGAGCCGTCCCACACTGGGCCCGCCATCCCCTCGTCTGTGTGACCTGCTCCTGTAATGCTGGAGCCTAGGAACCCTCTTCTAGAGTAACAGCTACTGAGGTCACTGTCAGCCTCCAGAAAAACAGCAGGCAGCAAGGAAGATGAAGGGCACCCACTGACGAGCAGCTCCCGCTCACTAGCGGCAGATTCTGGGGAGGGGCTGGGGTCCTGGGGCACCAGGCACCGTGGGCCCAAGCAGGTGTGGGGCTGGCCAAGCCACTGTGTCCACATCCTGCAGTGCCTGGAGAGGGCAGCAGCCTTCACGCCCCGCCGCCCGCCTGCAGGAAGAGGTTGGTCTGAGCCTCCAGAAGCCACCTGCTCACCCGGCTGCACCTTCACTTCAGACAGGGCCGACAGACAAGCCTTCTTTCTCTCGTCGCCTTTAGGGTAGGGCCTGAGAAACAGGAAAGAAATTCTTGCTTTGTCTCCTGGAGGAACTGGCTGCTGGGGGACAGCCCAGGGCCCCTCCTGCCTGGATTGCCCTCTCTGTCCCTCTCTTCCCGGCTCTAGCTGCTCCTAGCGCAGCCAGGCACCACTGGCAGCGATTCTTGCCCTGCATTCCTCATGGAGAATCCCCGACAGCCCCGGAAGGGCTGTTTTCTGGCAGGCTCTGCCCCTGCTGTGTGCGGGGGTGTGTGGCTGGGGGTGGTGGGGGTAATAATGCCTGCCACCTGCTGCCACCCAGGAAACGCTAGCTCCCGTCCTTCATCTCGTGGGTTAGAAGCTGCCAGCACTGCTATTCTCAGCACCCAGCCCAGAAAAGGACCTCAAAGTGACCAAGGTCAGAGCAGTGTAAGCACTGGAGACAGCCCAGCCAGCGTGCCCAGCATTGATGACTCCAGGGTTTCATCCCTTATGAATGCACAAAGCCATCAACATCCAAGGATGGTGTCAGGTCCACATGAATGGAAGGTCTAGGAAAACGATGACAGGACCTGCAAAGGCAGTCTGGTTTTCCTGACACCATGAGGATCGATCCTTCAAAGTGTGGAGAGGGCAGGGTGGCCTCAAATTGTGGAGCCATGTGCTAAATTCCACAAACCTCAGGAATGAAACTAAGCTGTGTTTCCTGAAACTGGCGTGGCCGTGCATTCTGCCATACCTTCAAGAGCCCTGGCTCACCCCAAGCAGTGCTTCCCCACCCACCCTGGCTGTCCATCAGAACCACCAGCGGCCCCGCTGCTAGAGACTCTCATTCATCTGGTTGGGGCCAGGCACGGGTATTTTTAAAGCTTCCCAGGCAATTCTGTTAAGCTGCAGGGACTGGAAGGAGATCCCAGAAGGTGGTTTCTGAAGCACTGCACTTACTTGATGATAGCCGACACGTTGGTGATCTTGTTAAAGAAATCAAACTCCCGCTGGTAAAAGTCCTTCGCTGGGCCGGACAAGGAGCCTATGATCTCCTCTACCAACTGATCCAGGAGGTCGCCGATGTCAGCTGCCAAGGAAGCAAAGAGGCTTAAGTCTCTGTGGCTGTGGCAGAGGCCCCTCAGGAATACCAGCCCTGTTTCCCAGGCCCCAGACTGGCAGTGCCCAGAGTATGCTCTGCAGGCTTGGTGAGACCATAACAGCTGCCGTGTGCCCCTTTTGCTGTGTTGACACAGCTGACGCTGCTGGGAAGCTAAGCTGGTGCCTAAGCGGAGCTCAAGGCAGGGGCCAAGCGCACAAGTGGACGTGGAATCCTCACTGCTGCACACGCTACACACGCAGGAAGAAAAAAGCCCGTGTCATTTATGAATGTCACAGGGCATAGAATCCTCACTGCTGCACACGCAGGGAGAAAAAAGCCCGTGTCATTTATGAATGTCACAGGTGAAGCAATGAAAACTAATTCTTATTAAACTCTACCCTGAATACATGTCTTTTTTTTTTTTTAATAGAGGCACACAGTGGGCGGGGCTCTATATTAAATAGTGCCTCTCACTATTCAAATCCCAGGCTGAATTTAAATTCCTGGGCTCAAGAGATCCTCCTGTCTCAGTCACCTGAGTTGCTGGGACTACAGCTAGTAGGTGGGACTACAGGTGCGCATCACCACATCTGGCTTTTAAAGTATCCTTTGTGATGAAATGGGATGTGCACGAAGCACTCTTGCCGCATCTAAGGCAGGCGCTGTCCTGAGAAGCACCTGGAGCTTGTCTGATTTTGGAGCCTGGACTAACCTTTTTCACAGACCTTTGTTTTTACTTGAAGAAATGACTGACAGACAACATATAGCTATTCAGACTTAGGGATGTGGCAGATGTTTTCCTGAAAATGAACAAAAAATAAATCTTCCACTCAAAGGAACTGAAACATTTTTTTGGAAAACTTGGATCTGCTGCTGTGAGCTCAACAGCTTCCCTTAAAAACTCTTTCTGGGCCGGGCGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGACGTGAGTGGACCACAAGGTCAGGAAATTGAGACCATCCTGGCTAACATGGTGAAACACCGTCTCTACTGAAAATACAAAAAAATTAGCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACTAATCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCCTTTCTGGTAAGACTGGCAGATGTGAACAAATATGATTTTTCCACACTGTACAAAGAAATGCATCAACCTTTGAAAGATGTGCATAACTCACTGGCCTATATTTTACAAATGCCCACCGTTTGATGTTATAAAAGCTTTTGTGGGTCCAGGTGCGACGTAGACAGACTTGAACAAAACACAGCATGAGAAGTTTACTGCCAAGTTTAAGATGCCACACTGCAATTAACCTTTTTTTTGGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGACTGCAAGTAATCATTAAGAAGCTAGGCTGAGCTACAAAAAATTAAAAATTAGCCAGTCGTGGTGGCGTGCACCTATAGTCTCAGCTACTTGGGAGGATGAGGCAGGAGGATCGCTTAAGCCCAGGTGGTCAAGGCTGCAGTGAGCCGTGATTGCGCCACTGCATTCCTGCCTGGGAGAGGGACCCTGCCTCTAAAAAAATAAAACAAAAGCTACCACTTCTCAAGTGTGGTGCAGTATCAAAAAGAATCTCCACAATGACCTGAGAGACTACTAACATACAACTTCCTTTTTCAACTACATTCACTTCAACTGAAACAACACTGCAACAGATCAACTGCAGAAGTGGAACGAGAATGAGAATCCAGCCGTCTTCTACAAGGAAATGCCACTCTTTTGGCTCATTTTTTAGTTTTTTGGGGAAAGTTATTTTCCCAAAAAGATGTTATTTATATTAACATGTAATGAATGGGCT 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Task1_train_28605 | With a mutation on Chromosome 22 in gene PI4KA (phosphatidylinositol 4-kinase alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Gastrointestinal defects and immunodeficiency syndrome 2 | TCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTAAGGACTCAGGGAGAAGATGGCTATCAATAAGCCAGGGAGATGGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTTGGAGGCGGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGACAACATAGCGAAACTCCATCTCTACAAAAAATACAAAAATTAGCTGGGCGTGGTCGCACACGCCTGTCATCCCAGTTACTTGGGAGGGGTAGCGGGGAAGGTGCTGAGGTGGGAGGATAGCTTGAGCCCGAGAGGTTGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCTAGCCTGAGTGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAAAAAAAGCCAGGGAGACAGGCCTCAGAAGGAAACAACCCTGTTCGAACAATGACCTTGGACTTCTGGCCTCCAGAATTCATGTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTGGCCTCCACAATTCTGAGAATGAGAATAGACATTTCTGTCGTTTAAGCTGCCCAGTCTGTGGTGCTTCGCTATGCAGCCCTGGCAGACTAATGCATATGTCATCTCGTTAATTTTCCTCACCACTTCCGGCTGAAGAGGGCAGGATTCAGGGATTTGAGGGGACCCCACCGATGAGAGGGAAGCCTGGCCAGGCTGCCTAGCCAGGCTGGCAACAGCCCCAGAACCGGCTCGCTCCACAGAGCATGCTTGGGCCTCAGGGTGAGGCAGTGGGTGAACATGGGTATCAAGGGACAATCACAGGGCCTGGGGTAGGGGGAGCAAGGGGACTGCTGGGCAGCCCTGCCCCTGAGGAGGCTCTGAGGAGCCTGTGAGGGCTGGGGACAGACCGGGCACAAGCTGGTGTGGAACACACTCTGTGAGTGAAGAGGACGGCCATGCAGGTGCAGGCTTACCTTGTCGTACCTGAGGGCCTGCACAATCTGGGGGATGTAGAAGAGGATGGCGTCCTGTGGAGGTGGAGCAGAGTTGGCCATGACTTCTGAGAGCAGAGCCACCCAACCCTACGGCCCAGGCCCTGCCTCTGCTTCTGCTCTGCCCACAGCAGGGCTGAGAACTGGGGAAAGCCCAGAGGATGGCAGGCAAAATGACCGATGGCTCAGAACACAGGAATGGAGGAAACAGGTAAAAGGAGCAAGGCTCCCGCTCTACAGCGGGCGAGGGCCTCGTGCTCCTCACTAGGGAGCCTGCCTCAGGGAATGGTCTGCTGTGGGTCAGACTCTAGAATATTCCAGAGACCCTTCTCCACCATCATCATGGCTATCTCGTGGGCTCCCTGGGCTCCCACAAGGAGTGAGGGACCCTCCACGGGTGAGGTCACTGTGGGGTTCCAAGGCACAGCTAGCTGCACTGCTGTGTGGGGTGTGCACAGCTGCCGCGCCGCCTCGTAATCAAACTCAAGTTAACTTTATGTCTTTAACTCAAACGCCTCACTAGATTAAAAAACAAATGTAACTAGAGAACACATTTGAATTAGAACTAAATCCATCTTCTACAACTACTTGAGCAAAAAACAGGGAAAGGACCAGTATGTAACGGGGCGACCTCATGGCCAATGGTGGGGCCTGTGCCTCTCACCAGGTAAGACCCCTCCCAACAGTCCTACCAGAGGCCAGCTCAGCAGGGCCCTGGGCTCACCGGAGGGAAGGACCGCAGGACTTTCACCCCGTACTGCGCCGTGAGAGGGTGCGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCACGGCTAGGTAGGGAGAGATGCTC 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TCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTAAGGACTCAGGGAGAAGATGGCTATCAATAAGCCAGGGAGATGGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTTGGAGGCGGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGACAACATAGCGAAACTCCATCTCTACAAAAAATACAAAAATTAGCTGGGCGTGGTCGCACACGCCTGTCATCCCAGTTACTTGGGAGGGGTAGCGGGGAAGGTGCTGAGGTGGGAGGATAGCTTGAGCCCGAGAGGTTGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCTAGCCTGAGTGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAAAAAAAGCCAGGGAGACAGGCCTCAGAAGGAAACAACCCTGTTCGAACAATGACCTTGGACTTCTGGCCTCCAGAATTCATGTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTGGCCTCCACAATTCTGAGAATGAGAATAGACATTTCTGTCGTTTAAGCTGCCCAGTCTGTGGTGCTTCGCTATGCAGCCCTGGCAGACTAATGCATATGTCATCTCGTTAATTTTCCTCACCACTTCCGGCTGAAGAGGGCAGGATTCAGGGATTTGAGGGGACCCCACCGATGAGAGGGAAGCCTGGCCAGGCTGCCTAGCCAGGCTGGCAACAGCCCCAGAACCGGCTCGCTCCACAGAGCATGCTTGGGCCTCAGGGTGAGGCAGTGGGTGAACATGGGTATCAAGGGACAATCACAGGGCCTGGGGTAGGGGGAGCAAGGGGACTGCTGGGCAGCCCTGCCCCTGAGGAGGCTCTGAGGAGCCTGTGAGGGCTGGGGACAGACCGGGCACAAGCTGGTGTGGAACACACTCTGTGAGTGAAGAGGACGGCCATGCAGGTGCAGGCTTACCTTGTCGTACCTGAGGGCCTGCACAATCTGGGGGATGTAGAAGAGGATGGCGTCCTGTGGAGGTGGAGCAGAGTTGGCCATGACTTCTGAGAGCAGAGCCACCCAACCCTACGGCCCAGGCCCTGCCTCTGCTTCTGCTCTGCCCACAGCAGGGCTGAGAACTGGGGAAAGCCCAGAGGATGGCAGGCAAAATGACCGATGGCTCAGAACACAGGAATGGAGGAAACAGGTAAAAGGAGCAAGGCTCCCGCTCTACAGCGGGCGAGGGCCTCGTGCTCCTCACTAGGGAGCCTGCCTCAGGGAATGGTCTGCTGTGGGTCAGACTCTAGAATATTCCAGAGACCCTTCTCCACCATCATCATGGCTATCTCGTGGGCTCCCTGGGCTCCCACAAGGAGTGAGGGACCCTCCACGGGTGAGGTCACTGTGGGGTTCCAAGGCACAGCTAGCTGCACTGCTGTGTGGGGTGTGCACAGCTGCCGCGCCGCCTCGTAATCAAACTCAAGTTAACTTTATGTCTTTAACTCAAACGCCTCACTAGATTAAAAAACAAATGTAACTAGAGAACACATTTGAATTAGAACTAAATCCATCTTCTACAACTACTTGAGCAAAAAACAGGGAAAGGACCAGTATGTAACGGGGCGACCTCATGGCCAATGGTGGGGCCTGTGCCTCTCACCAGGTAAGACCCCTCCCAACAGTCCTACCAGAGGCCAGCTCAGCAGGGCCCTGGGCTCACCGGAGGGAAGGACCGCAGGACTTTCACCCCGTACTGCGCCGTGAGAGGGTGCGGCGGGTACATGCTGGAGAAGTCGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCACGGCTAGGTAGGGAGAGATGCTC 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Task1_train_28606 | An alteration has been detected in PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCACGGCTAGGTAGGGAGAGATGCTCCAGGCGAGGTTCACGTTGTCCTTCCACTGCTTCTCACTCAGGCTGATGTACTTAGATCTCCAGTTGGCCACGCTGTTCTCTCCGGCCTGGTCTAGTTCCAGTTCCGGGGCTGACAGCGGGTTGTACCATGTGATGAGACGCTCGATCTCAGTGGCCTGGCAAGATAAGACATAAGGCCTGATATGCACCCCTTCTGTGAGTGCCCACACACTGCCCCGGCCACCAGGTGTCGTACAGGCAGGTGGCGGGCAGCAGGCACAGCTGCACCTGTGGGCCTTACCAGCAGGGACAGCAGCAGCGTCCTGCGCTTCATGTAGTATTTGTGCAGCTGGGAGCCCCGGTTGGTTTTCTTAGACATGCCTAGGAGGAAAGACAAAGCACAGGTGTAGTCCTCAGATGCTACCTGTCTGCCCTGAGATTCTAAACCTAGAGGAAGCTTGCAGTGCTCTGTTCTGCTGTCTGAGCAAGTGTCCATCAAGCAGCTTGCAACTAGAATGATAGCTTGCATGTGATGGCCCCAGCAGCACACCTCCCACCGACCTGATTTCTTGGAGATGGTGGACATGCCGCTGGACAGGGGGTATGTGTTGATCCAGCCTTGGGTGGCTTGTTGCCGAGAGCCGACAGTTATGTCCAGGTTGCTCCGGGTGTCCTGATTATCTGAGGGCAAACACATTGTTGATTCTAGAGTGAGGTGGCTCAAGAAAAGGTACCACAAAAAATAAACTACTATTCACCAGAGATAAAGCAATTAGTGGCAGAGCAGGCATTTTCTGGAGTCCTGGAATCGACTGCAGGAACAAATCTGTCTGGATGGTGGGTTTTCCAAAAGCATGAGAAGTTCTTTATTTTAACTATTCTAGATGGAATGTTTAAACATTTTTATTATATTTCTTTTAACCTTTTCAAAATTTATTTATTTATTTACTTATTTATTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGGTGGAGTGCAATGACGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACTGTGCCCAGCCTATGTTTTATTTTTGAGAAGGAGTCTCGCTGTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGTCTCAGCCTCCCGAATAGCTGGACTACAGACGCCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTAGCCAGGCTGGTCTCGAACTCCTTACCTCAAATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTACACCTGGACTTCTTCTAGCCTTTAAAATAGAATAGGCTGAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCTAGACGCCAGGAGATCGAGGCCAGCCTGGACAACAAGGCAAGACGCCCTATCTCTACAACAACAATAAAAATTAGCCAGGGGACCTGGCATGTGTCTGTAGTCTTAGCTGCTTGTGAGGCTGGGGTGGGAGAATTGCTTGCACCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTACACTATTGCACTCTAGCCTGCGCGACAGAATGAGACTGCATTTCTAAAAAAAAGTAGAAAATAAAATAGAATAAAACAAATATCATAATTTTCTTGATAAAAGATGGCAGTTATCTGATCACCGGCAACGTATAGTCCTTTAGTACGGTGACAACTTGAGGGCCTGTGGGGGCAGACTGTAAGGACTGTTTGCCCTCTTCTAAGTGGAGCCAGAAAGCTGCCTTAGAAAGTCACTGCATCTG 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CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCATGGCTAGGTAGGGAGAGATGCTCCAGGCGAGGTTCACGTTGTCCTTCCACTGCTTCTCACTCAGGCTGATGTACTTAGATCTCCAGTTGGCCACGCTGTTCTCTCCGGCCTGGTCTAGTTCCAGTTCCGGGGCTGACAGCGGGTTGTACCATGTGATGAGACGCTCGATCTCAGTGGCCTGGCAAGATAAGACATAAGGCCTGATATGCACCCCTTCTGTGAGTGCCCACACACTGCCCCGGCCACCAGGTGTCGTACAGGCAGGTGGCGGGCAGCAGGCACAGCTGCACCTGTGGGCCTTACCAGCAGGGACAGCAGCAGCGTCCTGCGCTTCATGTAGTATTTGTGCAGCTGGGAGCCCCGGTTGGTTTTCTTAGACATGCCTAGGAGGAAAGACAAAGCACAGGTGTAGTCCTCAGATGCTACCTGTCTGCCCTGAGATTCTAAACCTAGAGGAAGCTTGCAGTGCTCTGTTCTGCTGTCTGAGCAAGTGTCCATCAAGCAGCTTGCAACTAGAATGATAGCTTGCATGTGATGGCCCCAGCAGCACACCTCCCACCGACCTGATTTCTTGGAGATGGTGGACATGCCGCTGGACAGGGGGTATGTGTTGATCCAGCCTTGGGTGGCTTGTTGCCGAGAGCCGACAGTTATGTCCAGGTTGCTCCGGGTGTCCTGATTATCTGAGGGCAAACACATTGTTGATTCTAGAGTGAGGTGGCTCAAGAAAAGGTACCACAAAAAATAAACTACTATTCACCAGAGATAAAGCAATTAGTGGCAGAGCAGGCATTTTCTGGAGTCCTGGAATCGACTGCAGGAACAAATCTGTCTGGATGGTGGGTTTTCCAAAAGCATGAGAAGTTCTTTATTTTAACTATTCTAGATGGAATGTTTAAACATTTTTATTATATTTCTTTTAACCTTTTCAAAATTTATTTATTTATTTACTTATTTATTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGGTGGAGTGCAATGACGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACTGTGCCCAGCCTATGTTTTATTTTTGAGAAGGAGTCTCGCTGTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGTCTCAGCCTCCCGAATAGCTGGACTACAGACGCCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTAGCCAGGCTGGTCTCGAACTCCTTACCTCAAATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTACACCTGGACTTCTTCTAGCCTTTAAAATAGAATAGGCTGAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCTAGACGCCAGGAGATCGAGGCCAGCCTGGACAACAAGGCAAGACGCCCTATCTCTACAACAACAATAAAAATTAGCCAGGGGACCTGGCATGTGTCTGTAGTCTTAGCTGCTTGTGAGGCTGGGGTGGGAGAATTGCTTGCACCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTACACTATTGCACTCTAGCCTGCGCGACAGAATGAGACTGCATTTCTAAAAAAAAGTAGAAAATAAAATAGAATAAAACAAATATCATAATTTTCTTGATAAAAGATGGCAGTTATCTGATCACCGGCAACGTATAGTCCTTTAGTACGGTGACAACTTGAGGGCCTGTGGGGGCAGACTGTAAGGACTGTTTGCCCTCTTCTAAGTGGAGCCAGAAAGCTGCCTTAGAAAGTCACTGCATCTG 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Task1_train_28607 | Given this variant in gene PI4KA (phosphatidylinositol 4-kinase alpha) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spastic paraplegia 84, autosomal recessive | CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCACGGCTAGGTAGGGAGAGATGCTCCAGGCGAGGTTCACGTTGTCCTTCCACTGCTTCTCACTCAGGCTGATGTACTTAGATCTCCAGTTGGCCACGCTGTTCTCTCCGGCCTGGTCTAGTTCCAGTTCCGGGGCTGACAGCGGGTTGTACCATGTGATGAGACGCTCGATCTCAGTGGCCTGGCAAGATAAGACATAAGGCCTGATATGCACCCCTTCTGTGAGTGCCCACACACTGCCCCGGCCACCAGGTGTCGTACAGGCAGGTGGCGGGCAGCAGGCACAGCTGCACCTGTGGGCCTTACCAGCAGGGACAGCAGCAGCGTCCTGCGCTTCATGTAGTATTTGTGCAGCTGGGAGCCCCGGTTGGTTTTCTTAGACATGCCTAGGAGGAAAGACAAAGCACAGGTGTAGTCCTCAGATGCTACCTGTCTGCCCTGAGATTCTAAACCTAGAGGAAGCTTGCAGTGCTCTGTTCTGCTGTCTGAGCAAGTGTCCATCAAGCAGCTTGCAACTAGAATGATAGCTTGCATGTGATGGCCCCAGCAGCACACCTCCCACCGACCTGATTTCTTGGAGATGGTGGACATGCCGCTGGACAGGGGGTATGTGTTGATCCAGCCTTGGGTGGCTTGTTGCCGAGAGCCGACAGTTATGTCCAGGTTGCTCCGGGTGTCCTGATTATCTGAGGGCAAACACATTGTTGATTCTAGAGTGAGGTGGCTCAAGAAAAGGTACCACAAAAAATAAACTACTATTCACCAGAGATAAAGCAATTAGTGGCAGAGCAGGCATTTTCTGGAGTCCTGGAATCGACTGCAGGAACAAATCTGTCTGGATGGTGGGTTTTCCAAAAGCATGAGAAGTTCTTTATTTTAACTATTCTAGATGGAATGTTTAAACATTTTTATTATATTTCTTTTAACCTTTTCAAAATTTATTTATTTATTTACTTATTTATTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGGTGGAGTGCAATGACGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACTGTGCCCAGCCTATGTTTTATTTTTGAGAAGGAGTCTCGCTGTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGTCTCAGCCTCCCGAATAGCTGGACTACAGACGCCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTAGCCAGGCTGGTCTCGAACTCCTTACCTCAAATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTACACCTGGACTTCTTCTAGCCTTTAAAATAGAATAGGCTGAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCTAGACGCCAGGAGATCGAGGCCAGCCTGGACAACAAGGCAAGACGCCCTATCTCTACAACAACAATAAAAATTAGCCAGGGGACCTGGCATGTGTCTGTAGTCTTAGCTGCTTGTGAGGCTGGGGTGGGAGAATTGCTTGCACCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTACACTATTGCACTCTAGCCTGCGCGACAGAATGAGACTGCATTTCTAAAAAAAAGTAGAAAATAAAATAGAATAAAACAAATATCATAATTTTCTTGATAAAAGATGGCAGTTATCTGATCACCGGCAACGTATAGTCCTTTAGTACGGTGACAACTTGAGGGCCTGTGGGGGCAGACTGTAAGGACTGTTTGCCCTCTTCTAAGTGGAGCCAGAAAGCTGCCTTAGAAAGTCACTGCATCTG 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CGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTTTCCTACCATATCCTCTCCTGACTCTCCACAGCTGCTCATCCAGTGAGTCAGTGTCTCAGTCAACAGTCCAGGGGCCACAAGGCACCTGGTCCATGAAGGGGCAGCTACTGGTTTCCAGGTGTTCCCACCTCAGGCTAATGCAAGGCGGATGTCCCATGAGCACTGTGCTTTGAGACAATGCAGAGCTGCGCTGCGATCCTATTCCAGAGGATCAAAGTAGGGCTGGAGAGAGGATGCAGTACATTGGCAAGTCTGGGCTCACAATGGAGAATCACCCACCCTGGACACATTCACAGGAGGCTGTGGACCATCTGGTGGGATTCTAAACAGGGACTCTGCAGTCCCTCTCAGCCACCATCGGTCTGAAGTTCTGTCCCCATAAGAGCTGCCACAGAGAGATCACAGGAATGTCACTGCTGTCTGCAGCATGTGCCTCCTCCAAATACTCTGCCACTGAAAGGTGACATCCAGGAACAAACCCAAACCCTCCCCAAGGCGGTTCCGGCAGCCACCTGCCAGGAGTGACAGCCTCCACATGCTTCCTATCCGGCAGGAATCAGATCTTGGCTCTGAATTCACCCTGCTGCTACCTCCCTAGGCTCCAGCTGCTGCAGCACCCCAGGCAGGCATCTGAAAAGATCACGAGGGTTGCTGGGTTATCTCTGCACAGAAGGGCTCGGGGAGTGTCCTGGGGCTCGAGGACTAGACTACTTCCTGACTATCCTTGAAAGGGGCTGCAGGGCACTCCTGAGAACTCATGACCCAGCTGGCAAGCACCCTGCGCTGGACCTCTGGTGAGGCCTGTGTCAGGCTGTGGTGCCCGGGGGCCCACCTGGCAGGCAGCTGCATGGCTAGGTAGGGAGAGATGCTCCAGGCGAGGTTCACGTTGTCCTTCCACTGCTTCTCACTCAGGCTGATGTACTTAGATCTCCAGTTGGCCACGCTGTTCTCTCCGGCCTGGTCTAGTTCCAGTTCCGGGGCTGACAGCGGGTTGTACCATGTGATGAGACGCTCGATCTCAGTGGCCTGGCAAGATAAGACATAAGGCCTGATATGCACCCCTTCTGTGAGTGCCCACACACTGCCCCGGCCACCAGGTGTCGTACAGGCAGGTGGCGGGCAGCAGGCACAGCTGCACCTGTGGGCCTTACCAGCAGGGACAGCAGCAGCGTCCTGCGCTTCATGTAGTATTTGTGCAGCTGGGAGCCCCGGTTGGTTTTCTTAGACATGCCTAGGAGGAAAGACAAAGCACAGGTGTAGTCCTCAGATGCTACCTGTCTGCCCTGAGATTCTAAACCTAGAGGAAGCTTGCAGTGCTCTGTTCTGCTGTCTGAGCAAGTGTCCATCAAGCAGCTTGCAACTAGAATGATAGCTTGCATGTGATGGCCCCAGCAGCACACCTCCCACCGACCTGATTTCTTGGAGATGGTGGACATGCCGCTGGACAGGGGGTATGTGTTGATCCAGCCTTGGGTGGCTTGTTGCCGAGAGCCGACAGTTATGTCCAGGTTGCTCCGGGTGTCCTGATTATCTGAGGGCAAACACATTGTTGATTCTAGAGTGAGGTGGCTCAAGAAAAGGTACCACAAAAAATAAACTACTATTCACCAGAGATAAAGCAATTAGTGGCAGAGCAGGCATTTTCTGGAGTCCTGGAATCGACTGCAGGAACAAATCTGTCTGGATGGTGGGTTTTCCAAAAGCATGAGAAGTTCTTTATTTTAACTATTCTAGATGGAATGTTTAAACATTTTTATTATATTTCTTTTAACCTTTTCAAAATTTATTTATTTATTTACTTATTTATTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGGTGGAGTGCAATGACGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACTGTGCCCAGCCTATGTTTTATTTTTGAGAAGGAGTCTCGCTGTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGTCTCAGCCTCCCGAATAGCTGGACTACAGACGCCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTAGCCAGGCTGGTCTCGAACTCCTTACCTCAAATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTACACCTGGACTTCTTCTAGCCTTTAAAATAGAATAGGCTGAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCTAGACGCCAGGAGATCGAGGCCAGCCTGGACAACAAGGCAAGACGCCCTATCTCTACAACAACAATAAAAATTAGCCAGGGGACCTGGCATGTGTCTGTAGTCTTAGCTGCTTGTGAGGCTGGGGTGGGAGAATTGCTTGCACCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTACACTATTGCACTCTAGCCTGCGCGACAGAATGAGACTGCATTTCTAAAAAAAAGTAGAAAATAAAATAGAATAAAACAAATATCATAATTTTCTTGATAAAAGATGGCAGTTATCTGATCACCGGCAACGTATAGTCCTTTAGTACGGTGACAACTTGAGGGCCTGTGGGGGCAGACTGTAAGGACTGTTTGCCCTCTTCTAAGTGGAGCCAGAAAGCTGCCTTAGAAAGTCACTGCATCTG 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Task1_train_28608 | This sequence change occurs on Chromosome 22, altering PI4KA (phosphatidylinositol 4-kinase alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | ATTCACACACAGTCAAACAACTAAAAATGAAAGATAAGGAGAAACATCCAACAAGTAGTCAAAAGAAAAACAATAACATATACAGTCATCCTTGGTATCCTCAGGAGAACTGGTTCCAGGATGTGGAACCCATGGATATGGAGGGCCGGCTGTACTGAGAAACAAAAAGACTGTTGACTTCTCTCCAGAAACAATGCAAGCTACTAGACAATAGAAGATAATATCTGAAATGCTAAAAACAATAAAACAAAAAACTATCAACCTAGAATCCTGGGCCTAGAAAAAATAATCCATATGCATCAAAGATGAAGGTGAACTAAGATGAGAGAATTTATTTCCAGCAGACCTGCATTACTGGAACTGTTAAAGAAAATTACTTGGCAGAGGAGATCACAGGAAGACTGTAAAAGTGTGAGTGATGAAAAACATTTGGATAAATTATAATGCTGTAACAAAGCCTTGTCTTAATTTCTTTGAAAGACTTTTGATTTTTTTGAACAGAAACAACATTATAAGGTCTAATGCATATAGTAGTAAAATATGAAAACAGGACACAAGGAATTAGAGGGAGAAATTGGGTGTCATAATGGCAGTGGGTATCCACAGTGGCAATGGTATACAGCTGTCTCTGCAGAATCCTCTCCCTGGCAAGAACTATAACTGATGTGGCCACTCCAGTTGTCATTTACTGACAGCTCACTAGGATGCAGGTGCTCTTGTAATGATGTCCACCATGCAGGTGAGGAGCCCCGCCCAGGAATCAGAGCCCTGCAGGCTGAAGCGTGACTTCCACAGGCCCTTCTGCATATCTTTGATGGGAGCAGGCTGGTCAGGCTGAGAACCCAGCACTCCCCTGACTTCACAGGTGTCCCCCTGACTAGACAACCTCCCCCAGGCGCCCACTGGACCAAAATGTTTCCTAACAGCGCTCAATGGTGTGATTGATACAAACCCCACGAGGTTATAAAATAGCAGGCAAATGTGAGATATTATCATCACTGCCACCACCACCAGCCCGGAACATTTTAATTACATTTTTGGAAATATTCCAATTTTCCTGAGGGAAGAAGAAAATCAAAATCCCCCTTTTTGACCACTCATTTCAACTAATCCTAAGAAATACAGAAAGAAAACATGTCAAATTCCCTGCTACCCTGACAGTTAACAGAATCTTTGAAAAATAAAATTGTTCTTAAGCGTTTATCTAATCAGCTGAAACGTGAGTATAAACTTCCTTGTGGGCACCCCCTGCAGTAGCAACTCCAGAAATACGGATGCAGGGAAAGGGGGCTGATCCCAAGATTAGGTCAAGAAAAACATTCCCGTGGACAAACACAACTGCTCCCAATCAAATTCAAAGTTAACAGGTGTTCAAAAAGCTGGATTTCCAATTTCAGTAGAGAAATGGCTCCCCCTACCGAGGTTTTGGGAGATAACGGCTTCTAGGCACCAGTGGGATGCTGTTAACATATATTCTATTTTCTGTGACTGTCAGGTATAATAATAGAATCTGTAAGGAGACTGAGGCTTGAGAAGGTGAGGGGCTTGCCCAGTGTCTCCATGCTTGGTGGTGGCGGCACCAGGGAAGGCTCTTCCCGTCTGTTATCCCATCCCATCCTCACTGCCAACCCGAGGTCAGGGTCCTACCGGCACTTCCACTCCATCCTTGCCAGCCAGCAGCCACTCCCAGCAGGCCAGGGCCGTCTCCATGCCATGCTCATTGAACATCCGGAGGGGACCCCAGCACAGATGATGAAGGAGCTGCGGGTCACAATCTGGAACCAAACACACGTCAGTCAGAGGCCTCCAACAACAGCTGAACCCCAAAACAGCTTCCCTGGGCCAACAAGAGTTGACCAGCTGGGGCCAGTGATGGCCTTTTATTGACTTTCCACTCATGAGAGATACTCCTCTACTGGGGGAGCTCCTGCTCTTTCTCCGGCCAGTACTCCAGCTGGCTATGGGTCATCAAGGCCAGCATTCATTTAGAAACGAGCCCAGAATTCCACAGTGCTTCAGTGAGTTACCTTTACTGCTAATGAGCATTGCGGTCAGCTTGAACATGGCCTGCGTGTAGTGCTGAGGATGACTGCGGTCTAAAGCTGAATGTAGATCCTGGACCATCATTTTGTTCAGGTCAGACATCTGGCCTGTGGTGCCTGAGAACCGAATCATTCCATACACCTGCAAAAACATTCTCATCAGCAACTAAGCATATAATCCAGGCAATGTGGGTAAGGTTCTGGAAGCCACCAGACCACACTTGTGGTGGCACTGGTGGGTGCCTCGCTGCCCCAAAGTGGAGCTCATGCATGCAGAGAGACAGGCTCATTTCAATGATGCTACCACTGATCACAGCTTTTTTTTTTTTTAAAGAACAGCTCCTCTAGAAATGCATGTTGGCAGTGCCACCACTGCAGATGTTCCCCAAGGGTGGGAACCTTGTCCCTCATCATTGTACCCAGCAGTGAGCCCGGGGTCTGACCCATGGTGGGACTGCATGAATGTGAGCTGGATAAATACATTTCCTCAAACTCAATTAATGACTCAAACAACAATATCAGCCTCATTATTATTTTTTGAGAGAGGGAGTCTCGCTCTGATGCTCAGGTTGGAGTGCAGTGGCGTGATCTCGACTCAGTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTCTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATAATCCGCCCACCTTGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCGGCCACACCCAGCCCTCCTTACTATTATTAATAATTTTTTCTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATAGTTCACTGCATCCTCGAACTCCTGGGCTCAGGTGATCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGTGCTTGGCCAACCTATCTATTTTTAAAGACAAATATAACTTTTTTTTCCAGAGAGAAGAACATACAAGTGACAGAGTGCTAAGAAGGAGTGAACTCCCACTCAGACCAGGCCACTGATAGACTTTCAGAGTCACCAGGGAGCTTAGAAATGGCATAGACTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCGTCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAAAACAAACAAACAAAAAGAAATGGTATAGATTAGCTTCTGAGTTTATGGAGCAGGAAATGGAGGCCCACAGATGTGATGGCACTGGTGAGGCTGGAATAAACTGTGGTGTGGTGGGTGAAAGCCCACGATGTGGAGTTGGAAGATGTGGTTCCAGACCCCACTCCACTTGTGCGACTTTGGCAAGTTACTTAATCTTGGGAACCTCCGTTTATCTATAAAACTGGAATAATAATACATACATCTTACCGAGTGCCCAAGAGCCTATGGCATGTAAGTGTTTGTTACTGCTGTAAAAAAAAGCCAAAAAAATTAAAAACCTTCATTCAGTGTAGCCAAAGTGTACACAGAGTTACCCTCTTGTGGAAAAAACAAGTAACTGGTCATTAACACTCTGGAATGTGCCAAGAATCCTCCTAAAATGTGCTCTTTAAATCCTCCTAAAATATGTTAATTCCACATCACCGGGACGCTTTGTTCATTTTCCACTAGGAAGCGGCCAACAGGCCTCAAAACAAGAGGACACGTTAAAGGCCCTAGGGCGCAAGGACAAGAGAAGCACCTCGCCCGCGTAGCGGTTGCGCAGATTCAGGGATGCCATGAAGTTGGAG 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ATTCACACACAGTCAAACAACTAAAAATGAAAGATAAGGAGAAACATCCAACAAGTAGTCAAAAGAAAAACAATAACATATACAGTCATCCTTGGTATCCTCAGGAGAACTGGTTCCAGGATGTGGAACCCATGGATATGGAGGGCCGGCTGTACTGAGAAACAAAAAGACTGTTGACTTCTCTCCAGAAACAATGCAAGCTACTAGACAATAGAAGATAATATCTGAAATGCTAAAAACAATAAAACAAAAAACTATCAACCTAGAATCCTGGGCCTAGAAAAAATAATCCATATGCATCAAAGATGAAGGTGAACTAAGATGAGAGAATTTATTTCCAGCAGACCTGCATTACTGGAACTGTTAAAGAAAATTACTTGGCAGAGGAGATCACAGGAAGACTGTAAAAGTGTGAGTGATGAAAAACATTTGGATAAATTATAATGCTGTAACAAAGCCTTGTCTTAATTTCTTTGAAAGACTTTTGATTTTTTTGAACAGAAACAACATTATAAGGTCTAATGCATATAGTAGTAAAATATGAAAACAGGACACAAGGAATTAGAGGGAGAAATTGGGTGTCATAATGGCAGTGGGTATCCACAGTGGCAATGGTATACAGCTGTCTCTGCAGAATCCTCTCCCTGGCAAGAACTATAACTGATGTGGCCACTCCAGTTGTCATTTACTGACAGCTCACTAGGATGCAGGTGCTCTTGTAATGATGTCCACCATGCAGGTGAGGAGCCCCGCCCAGGAATCAGAGCCCTGCAGGCTGAAGCGTGACTTCCACAGGCCCTTCTGCATATCTTTGATGGGAGCAGGCTGGTCAGGCTGAGAACCCAGCACTCCCCTGACTTCACAGGTGTCCCCCTGACTAGACAACCTCCCCCAGGCGCCCACTGGACCAAAATGTTTCCTAACAGCGCTCAATGGTGTGATTGATACAAACCCCACGAGGTTATAAAATAGCAGGCAAATGTGAGATATTATCATCACTGCCACCACCACCAGCCCGGAACATTTTAATTACATTTTTGGAAATATTCCAATTTTCCTGAGGGAAGAAGAAAATCAAAATCCCCCTTTTTGACCACTCATTTCAACTAATCCTAAGAAATACAGAAAGAAAACATGTCAAATTCCCTGCTACCCTGACAGTTAACAGAATCTTTGAAAAATAAAATTGTTCTTAAGCGTTTATCTAATCAGCTGAAACGTGAGTATAAACTTCCTTGTGGGCACCCCCTGCAGTAGCAACTCCAGAAATACGGATGCAGGGAAAGGGGGCTGATCCCAAGATTAGGTCAAGAAAAACATTCCCGTGGACAAACACAACTGCTCCCAATCAAATTCAAAGTTAACAGGTGTTCAAAAAGCTGGATTTCCAATTTCAGTAGAGAAATGGCTCCCCCTACCGAGGTTTTGGGAGATAACGGCTTCTAGGCACCAGTGGGATGCTGTTAACATATATTCTATTTTCTGTGACTGTCAGGTATAATAATAGAATCTGTAAGGAGACTGAGGCTTGAGAAGGTGAGGGGCTTGCCCAGTGTCTCCATGCTTGGTGGTGGCGGCACCAGGGAAGGCTCTTCCCGTCTGTTATCCCATCCCATCCTCACTGCCAACCCGAGGTCAGGGTCCTACCGGCACTTCCACTCCATCCTTGCCAGCCAGCAGCCACTCCCAGCAGGCCAGGGCCGTCTCCATGCCATGCTCATTGAACATCCGGAGGGGACCCCAGCACAGATGATGAAGGAGCTGCGGGTCACAATCTGGAACCAAACACACGTCAGTCAGAGGCCTCCAACAACAGCTGAACCCCAAAACAGCTTCCCTGGGCCAACAAGAGTTGACCAGCTGGGGCCAGTGATGGCCTTTTATTGACTTTCCACTCATGAGAGATACTCCTCTACTGGGGGAGCTCCTGCTCTTTCTCCGGCCAGTACTCCAGCTGGCTATGGGTCATCAAGGCCAGCATTCATTTAGAAACGAGCCCAGAATTCCACAGTGCTTCAGTGAGTTACCTTTACTGCTAATGAGCATTGTGGTCAGCTTGAACATGGCCTGCGTGTAGTGCTGAGGATGACTGCGGTCTAAAGCTGAATGTAGATCCTGGACCATCATTTTGTTCAGGTCAGACATCTGGCCTGTGGTGCCTGAGAACCGAATCATTCCATACACCTGCAAAAACATTCTCATCAGCAACTAAGCATATAATCCAGGCAATGTGGGTAAGGTTCTGGAAGCCACCAGACCACACTTGTGGTGGCACTGGTGGGTGCCTCGCTGCCCCAAAGTGGAGCTCATGCATGCAGAGAGACAGGCTCATTTCAATGATGCTACCACTGATCACAGCTTTTTTTTTTTTTAAAGAACAGCTCCTCTAGAAATGCATGTTGGCAGTGCCACCACTGCAGATGTTCCCCAAGGGTGGGAACCTTGTCCCTCATCATTGTACCCAGCAGTGAGCCCGGGGTCTGACCCATGGTGGGACTGCATGAATGTGAGCTGGATAAATACATTTCCTCAAACTCAATTAATGACTCAAACAACAATATCAGCCTCATTATTATTTTTTGAGAGAGGGAGTCTCGCTCTGATGCTCAGGTTGGAGTGCAGTGGCGTGATCTCGACTCAGTGCAACCTCCGCCTCCTGGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTCTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATAATCCGCCCACCTTGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCGGCCACACCCAGCCCTCCTTACTATTATTAATAATTTTTTCTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATAGTTCACTGCATCCTCGAACTCCTGGGCTCAGGTGATCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGTGCTTGGCCAACCTATCTATTTTTAAAGACAAATATAACTTTTTTTTCCAGAGAGAAGAACATACAAGTGACAGAGTGCTAAGAAGGAGTGAACTCCCACTCAGACCAGGCCACTGATAGACTTTCAGAGTCACCAGGGAGCTTAGAAATGGCATAGACTAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCGTCCTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAAAACAAACAAACAAAAAGAAATGGTATAGATTAGCTTCTGAGTTTATGGAGCAGGAAATGGAGGCCCACAGATGTGATGGCACTGGTGAGGCTGGAATAAACTGTGGTGTGGTGGGTGAAAGCCCACGATGTGGAGTTGGAAGATGTGGTTCCAGACCCCACTCCACTTGTGCGACTTTGGCAAGTTACTTAATCTTGGGAACCTCCGTTTATCTATAAAACTGGAATAATAATACATACATCTTACCGAGTGCCCAAGAGCCTATGGCATGTAAGTGTTTGTTACTGCTGTAAAAAAAAGCCAAAAAAATTAAAAACCTTCATTCAGTGTAGCCAAAGTGTACACAGAGTTACCCTCTTGTGGAAAAAACAAGTAACTGGTCATTAACACTCTGGAATGTGCCAAGAATCCTCCTAAAATGTGCTCTTTAAATCCTCCTAAAATATGTTAATTCCACATCACCGGGACGCTTTGTTCATTTTCCACTAGGAAGCGGCCAACAGGCCTCAAAACAAGAGGACACGTTAAAGGCCCTAGGGCGCAAGGACAAGAGAAGCACCTCGCCCGCGTAGCGGTTGCGCAGATTCAGGGATGCCATGAAGTTGGAG 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Task1_train_28609 | This variant lies on Chromosome 22 and affects the gene PI4KA (phosphatidylinositol 4-kinase alpha). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | TGGCCAGGCTGGTCTCGAACTACTGGCCTCAGGTGATCCACTCGCCTTGGCCTCCTAAAGTGCTGGGGTTACAGGTGTGAGCCACCACATCCAGCCAAAATAAAAGACACTTACAATGAAAAAAGAACAAAGTCAACACTCCCTTGGCTCTGTGGGACTTGGGGAGAATGCGTCACTGATTTCCACATTTGGCTGTGTGTGGAGCCCCGGGCTGAGGGCAGGGAGGAGGAGACTGAGCAGGAGGGTAGGGTGCATTCCCATGCAACCAAAGCACTCTGCCTTTCTTTTATGTATTGAGCTTTCAAGGACTATTTTACTAGAGGGTTGGTGGCAACAATGAAAGGCTAAAATAGTGTTTTCCAAATAGCCTTTCTCTCAGGAACACTTTCTTTTTCAAATCATTTGGGAAAGAAATTATTCTACGACTTATTTGCATCCCTCCCGACTTAAGCTGAGTGTAATTTGACCTTTTCTTGACAACAGGAATCATCATTTTGTAGCCAATGTACTCAGCTGCTGTCCCAGGGCGCCTGAGGCCTCAGCACAGTGGGTCTGTATAGCACTGCCTACCTCACAAGCATGTCGGGGAGTGCGTAAACATGTGTAATGCAGCACAGTACCTGGTACAGCACAGACACTCAATCCAAGCTTACTTCTGAGGTCAACATGATAACAGCTGTAGATCCTAAGTGTCACTACCACTGTTAGGACTGCTGTGGCCACAGATGTGTCCTGAGCATCGGGCCACATGCAGGACTGTTTTGGAGCCGGCCCCACCCCATGTCGCATTTGCTGTTTGTACTCAACCATGGTCCTGGGAAACAGCTCAGTGAGTGTCCTAGACACGCACTCAGCGAGGCTGGGTCCTCAGAAGGGCCTCGCTCAGTCCGTGGGCTGAGTTCACAACACTGACTGCAACTGCTCAGAAGCCTGTTTCCTATCAGAGAGAAGATGATGCGGAGCTTAGATACTGGGAGGTGTTACTATACGTGGTGTCTGGTGGTCATGAAGGAGGGGCATACGAGAAAAGTAGAGGGTGTTTTTGCTTGGTTTTTCAGAAAGTTTGCATGTCTTGGGAGAAGTTGAAAAAAGTCTCATGCTTACGAGGGCACAAAAATGAAAACCCTGCTCAAATGTGGATGTGCATGTGCATGGTGGTGAAGGCACGTGTACCTCATGTACTCCAGCCGGTACACAGAGAGGAGGTAGGTGGACATGGCGAAGTCCAGCTTGTTGATGAGTGCGGACACCTCGGGAGGGGGGTCCAGCAGGTTGATGATAGTGCTGCGGAGCTCACTCAGCTCAGCCTGGAGGGAGAGAAACATCCGAGGGCTCATGGGGCATCCCCCAGGACAAACAGGTCCCAGTGGCTGGCAACATGTGTTAATAATGACAGTGAAAAGATCTGCCCTAATTGGCACAGAGAGCATGGTAAAAATGAGATGTGAATCCTTACGGGGGTGACCGTGTCATTCTTCATGGCTGAGTTATACTGGAGGACGGACCGCAGTGGCTCCTTGCTGGGAAAGGTGAGCAAGGGGGACTTAGTGGCTATTTCACAGACCCCCTCGTACCATTCTTCTGGCCAGAGTCCTGCAATAAAGTGAACATAAATGAGGAAATCACCTTGGTCGGAAAGCACTGCAGTGAGGTTGACTGACAATTTCTATAGTCATGGGTCCTTTGAGACAATTATCCCAAAAACTAGGCACAGAAACGAAGTCTGTTACCTGACTTGGACAGACTTTTCCTAAGGTGTATGGCATTCTCAGCACCCTAAACTACATCTGGGGACAGTAACACTTGCTAATACTTGCAGAAAGAAGCAGCTGCATGTGGACTCATTTAAACATGCTCACATTCATAATTACGTGGGCTCTGACCTCACCTTTACCTTCACTCTGCACTCCGTCTTCACTGGGAGAGAGATGATCCCCCTACCTGAGCCCTCCACAGCGAATCCCATCAGAACGGAATACAGCCAGAAGTCTCGGAAGAGCTTCTGTAACCGAGGCTTAGCTTCTTTGATGGGTGGCAGTCGTCGGGTGAGCTGATGTGCCAAGAAGAGAGGGAGAAAGGAGGTTATTTGCTGAGGAAACCCTAAGCCCTGTAGGTGTAAAATCAACCACAGATTCATTCTCTAAGAGCATTCTCAGAAACTCAGACTGGGTAGGAAAAGGCACACTGAGCAGTGATGATTCTGCCAATAAGCATTGTCCATCCACTCATTTACTGAGTCCCTAGTGTGCACCAGGTGCTGTGCCAGGGAGGAAAAAGCCCTGTTCCTGCACTTGAAGGACTTCCTGTCTAGTTTGGAGGCAGGTGAGCAACAGTTACAGTGGGGTGGAGTTCCCAGAGAAAGTGTCATGGGTCTCAGAGTTAACATTTGAGGAAAACTTAGCCAGGAAAGAAGAGAAGGCAGCCTGTCCAGCCACAAGAGCATTAGGTCCTAAGCCTGGCACTGTGGAGGGTAACAAATGCTCAGGAAAGGCAAACAATGGATGCGAGCCAGAGCTTGAGGAAGGGATGCCACTGGGGAGGCAGGGAGAGCACAAGAACTCTCATGGGCCAGGCAGCACAAATTTTCCAAACAGTAATCTTCGGCAGAATCCCCATATATGTAACAGGTAAAGCAGAGTTGCTTGGGTGCAGGTGAGGGGCTATTGTCCTTGTGTTCCTGCTCCAAATGCTGGGGGGAGGCAGGGAGAGACTCATCAGTGGTATAAATGGCTAAACTTGGCCAAGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGATTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAACCAAAAGGTTTAACTTGTGCACGATGCCCAGCTGGACAGGCTGATCCTTACGGACCCCCCAGTGGATGTTGAGCTCCCATCAGTGATGTTGAGCCTGTGGTAAGCGGGGGCTTTGCTACCCCCAAACACTTATGAGCACCTGGTATGGGCCAGGCACTGGGCCGGGAGAGAGGTGGGAGAGATGAAGACACCATCTCTTGAGGCAAGGAGGGCACAATGGGATGGGCTGTGACACATCATGCACAGCAGGCAGGACTGTAAACTGTCACAACACTTCTTTGAAAGCAATTTGGTAATATGCATCAGAAATTCTAAATATCCCCACATATTTCACCCAAAATCCCATCCCTGAGAAATCTATCCAAAAAATGTTAAAAAGCTGATTTAGGCACAAAAATGTTGCAACAGCAAAATAAATAGAAACACACTAGATGTCTACCTGAAAGGGACATTTAAATAAGTAATGGTATATTAAAAGTATAATAAATTGGCCGGGCACAGTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAAGACCATTCTGGCTAACAGGGTGAAACCCTGTCTCTACTAAAAAATACAAAAACATTAGCCGGGCGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTTGAGCTTGCAGTGAGCCAAGATGGCGCTACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGTATAATAAATTAATTATTTTTGAGATAGGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATCACTGCAGCACTGACCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTTCCCAGTAGCAGGGAGGACAGGTGTGCTCCACCATGTCCAGCTAATTATTATTTTATTTATACTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGAGGCACAACCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTAAAGCAA 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TGGCCAGGCTGGTCTCGAACTACTGGCCTCAGGTGATCCACTCGCCTTGGCCTCCTAAAGTGCTGGGGTTACAGGTGTGAGCCACCACATCCAGCCAAAATAAAAGACACTTACAATGAAAAAAGAACAAAGTCAACACTCCCTTGGCTCTGTGGGACTTGGGGAGAATGCGTCACTGATTTCCACATTTGGCTGTGTGTGGAGCCCCGGGCTGAGGGCAGGGAGGAGGAGACTGAGCAGGAGGGTAGGGTGCATTCCCATGCAACCAAAGCACTCTGCCTTTCTTTTATGTATTGAGCTTTCAAGGACTATTTTACTAGAGGGTTGGTGGCAACAATGAAAGGCTAAAATAGTGTTTTCCAAATAGCCTTTCTCTCAGGAACACTTTCTTTTTCAAATCATTTGGGAAAGAAATTATTCTACGACTTATTTGCATCCCTCCCGACTTAAGCTGAGTGTAATTTGACCTTTTCTTGACAACAGGAATCATCATTTTGTAGCCAATGTACTCAGCTGCTGTCCCAGGGCGCCTGAGGCCTCAGCACAGTGGGTCTGTATAGCACTGCCTACCTCACAAGCATGTCGGGGAGTGCGTAAACATGTGTAATGCAGCACAGTACCTGGTACAGCACAGACACTCAATCCAAGCTTACTTCTGAGGTCAACATGATAACAGCTGTAGATCCTAAGTGTCACTACCACTGTTAGGACTGCTGTGGCCACAGATGTGTCCTGAGCATCGGGCCACATGCAGGACTGTTTTGGAGCCGGCCCCACCCCATGTCGCATTTGCTGTTTGTACTCAACCATGGTCCTGGGAAACAGCTCAGTGAGTGTCCTAGACACGCACTCAGCGAGGCTGGGTCCTCAGAAGGGCCTCGCTCAGTCCGTGGGCTGAGTTCACAACACTGACTGCAACTGCTCAGAAGCCTGTTTCCTATCAGAGAGAAGATGATGCGGAGCTTAGATACTGGGAGGTGTTACTATACGTGGTGTCTGGTGGTCATGAAGGAGGGGCATACGAGAAAAGTAGAGGGTGTTTTTGCTTGGTTTTTCAGAAAGTTTGCATGTCTTGGGAGAAGTTGAAAAAAGTCTCATGCTTACGAGGGCACAAAAATGAAAACCCTGCTCAAATGTGGATGTGCATGTGCATGGTGGTGAAGGCACGTGTACCTCATGTACTCCAGCCGGTACACAGAGAGGAGGTAGGTGGACATGGCGAAGTCCAGCTTGTTGATGAGTGCGGACACCTCGGGAGGGGGGTCCAGCAGGTTGATGATAGTGCTGCGGAGCTCACTCAGCTCAGCCTGGAGGGAGAGAAACATCCGAGGGCTCATGGGGCATCCCCCAGGACAAACAGGTCCCAGTGGCTGGCAACATGTGTTAATAATGACAGTGAAAAGATCTGCCCTAATTGGCACAGAGAGCATGGTAAAAATGAGATGTGAATCCTTACGGGGGTGACCGTGTCATTCTTCATGGCTGAGTTATACTGGAGGACGGACCGCAGTGGCTCCTTGCTGGGAAAGGTGAGCAAGGGGGACTTAGTGGCTATTTCACAGACCCCCTCGTACCATTCTTCTGGCCAGAGTCCTGCAATAAAGTGAACATAAATGAGGAAATCACCTTGGTCGGAAAGCACTGCAGTGAGGTTGACTGACAATTTCTATAGTCATGGGTCCTTTGAGACAATTATCCCAAAAACTAGGCACAGAAACGAAGTCTGTTACCTGACTTGGACAGACTTTTCCTAAGGTGTATGGCATTCTCAGCACCCTAAACTACATCTGGGGACAGTAACACTTGCTAATACTTGCAGAAAGAAGCAGCTGCATGTGGACTCATTTAAACATGCTCACATTCATAATTACGTGGGCTCTGACCTCACCTTTACCTTCACTCTGCACTCCGTCTTCACTGGGAGAGAGATGATCCCCCTACCTGAGCCCTCCACAGCGAATCCCATCAGAACGGAATACAGCCAGAAGTCTCGGAAGAGCTTCTGTAACCGAGGCTTAGCTTCTTTGATGGGTGGCAGTCGTCGGGTGGGCTGATGTGCCAAGAAGAGAGGGAGAAAGGAGGTTATTTGCTGAGGAAACCCTAAGCCCTGTAGGTGTAAAATCAACCACAGATTCATTCTCTAAGAGCATTCTCAGAAACTCAGACTGGGTAGGAAAAGGCACACTGAGCAGTGATGATTCTGCCAATAAGCATTGTCCATCCACTCATTTACTGAGTCCCTAGTGTGCACCAGGTGCTGTGCCAGGGAGGAAAAAGCCCTGTTCCTGCACTTGAAGGACTTCCTGTCTAGTTTGGAGGCAGGTGAGCAACAGTTACAGTGGGGTGGAGTTCCCAGAGAAAGTGTCATGGGTCTCAGAGTTAACATTTGAGGAAAACTTAGCCAGGAAAGAAGAGAAGGCAGCCTGTCCAGCCACAAGAGCATTAGGTCCTAAGCCTGGCACTGTGGAGGGTAACAAATGCTCAGGAAAGGCAAACAATGGATGCGAGCCAGAGCTTGAGGAAGGGATGCCACTGGGGAGGCAGGGAGAGCACAAGAACTCTCATGGGCCAGGCAGCACAAATTTTCCAAACAGTAATCTTCGGCAGAATCCCCATATATGTAACAGGTAAAGCAGAGTTGCTTGGGTGCAGGTGAGGGGCTATTGTCCTTGTGTTCCTGCTCCAAATGCTGGGGGGAGGCAGGGAGAGACTCATCAGTGGTATAAATGGCTAAACTTGGCCAAGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGATTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAACCAAAAGGTTTAACTTGTGCACGATGCCCAGCTGGACAGGCTGATCCTTACGGACCCCCCAGTGGATGTTGAGCTCCCATCAGTGATGTTGAGCCTGTGGTAAGCGGGGGCTTTGCTACCCCCAAACACTTATGAGCACCTGGTATGGGCCAGGCACTGGGCCGGGAGAGAGGTGGGAGAGATGAAGACACCATCTCTTGAGGCAAGGAGGGCACAATGGGATGGGCTGTGACACATCATGCACAGCAGGCAGGACTGTAAACTGTCACAACACTTCTTTGAAAGCAATTTGGTAATATGCATCAGAAATTCTAAATATCCCCACATATTTCACCCAAAATCCCATCCCTGAGAAATCTATCCAAAAAATGTTAAAAAGCTGATTTAGGCACAAAAATGTTGCAACAGCAAAATAAATAGAAACACACTAGATGTCTACCTGAAAGGGACATTTAAATAAGTAATGGTATATTAAAAGTATAATAAATTGGCCGGGCACAGTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAAGACCATTCTGGCTAACAGGGTGAAACCCTGTCTCTACTAAAAAATACAAAAACATTAGCCGGGCGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTTGAGCTTGCAGTGAGCCAAGATGGCGCTACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGTATAATAAATTAATTATTTTTGAGATAGGGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATCACTGCAGCACTGACCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTTCCCAGTAGCAGGGAGGACAGGTGTGCTCCACCATGTCCAGCTAATTATTATTTTATTTATACTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGAGGCACAACCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTAAAGCAA 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Task1_train_28610 | This is a variant in PI4KA, SERPIND1 (phosphatidylinositol 4-kinase alpha| serpin family D member 1), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Heparin cofactor II deficiency | AAACATATGCAACCAAACTGAGAAAAGTAGGCTCTCAGAGGAAGGTATTTGCCCGGGTAGCCAGTCATCATGCTCTGTGAATTTTTCCTTAACAACGTCCCTTCTGTACCTGCCTCCTTCCATTCCTCCCTGCAGCCCGGCAGCTCTTGAGAAAGGGACTGCATCTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCATCATCATGGCTCACTGCAGCCTCAACCTCCTGAACTTAAGTGATCCTCTCACCTCAGCCTCCTGAATAGTTGAGACTACAGGCGTGCACCTTCATGCCCAGCTAATTAAACTTTTTTTGGTAGAGATGAGGTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTAACAGGCGTGAGCCGCTGTGCCTGGCCCATTTGACTTTTAATTGAGATCTTACTTGGTGCAAGGTATGAGCTAGGTAAAAGAGTGAAGAAGATCAAGCCTTCCTGCCCATCCAGCTGGGATTGCACCTTAAATCTCTTTATCCCCTGCAAAGTGCCAGACTAACTCCACAGGCACTACTGTTGCTATCCGCCCCCTTAGGGATTGAGTAAGTTGAGGCAAAGATTGAGAATATTCAGCATTGTCTAGTATATACAGGAAAGGTTCTTTTTAAAAGTACACTACCAGATATTCGACTCCTTAATTACAAAAAAAAAACCAAATGCCTAAAATTGGGAAACCAAACCAGAGAATTATTTTAGATGCCTTTTTAAACCATAAACCAGGAAAAGTTCTGCTGCTAACCTTGAAGATAGGAAACGAACCATACAGTCTCAAGGAAATAATCATGCAACAGAAAACACACCTCAGTTTTCAGTAGCGGAATTACAAAGGAGTGTGCTTCCTAAAATCCTCAACTGACAGTCCCGGAATATAAATTTTAATAAGTGCTATATCAATTCTGTGATAAATATAACCCGTGGCCCTTTAAAGGGAAAATCATGATTCTTTTGTAACTTGTGGTTCAATAAAACTGGGCCCCCCTTTCCTTTTCTGTCTAGAACTCGAGAAGTGCTTCTGCCGAAATTCAAGCTGGAGAAGAACTACAATCTAGTGGAGTCCCTGAAGTTGATGGGGATCAGGATGCTGTTTGACAAAAATGGCAACATGGCAGGCATCTCAGACCAAAGGATCGCCATCGACCTGGTAACCACTCCCTTGTCCACCCCCGACCCGTCCCCAGGGTCTGCCTCAGCACAGCCCCACCTCCACTTGCCCTTCCTACCCACCCCCCAATCTCATGTCCCAGCTTGGGGTGCTGAGTCTGCTCTTCGGCCTGGGTGGGATACACAGAATGCCTAGTTTCATGGATGCCAGCTGGAGAGCACGGCACCTGGCAGACACTTACTGGGCAGGGGGGATCCCAAGAGCAGCCATGGGGTGAGCCCCACTCCCGCTGACACCAGAGACAGGGGAGACATGTGCTGCGGTCTGGGAAATAGCTACCCCCAGCCAAATCATGAAAGAGCCATTAAACACCGCACTATACACATACTTAACTTAAACCAATCGGGCGCTCAGCAAAAGAGAGAGAACACCAGTCCAAACAGTGCAGCAGACCCAGTTCCCCATCCCGGAGAAGTGCGCAGCAGTGTGGGGAGCTGGAGCTGGGGTGGCTGTCCTGCACCAGCCCCCACGACCCTCAGACCACAGGCACTGCCAAGAGGGAACATGAACCTAGCCGGCCTCTAAGTGCAACGGCTGCCCCTGACAGGTGGTGACAGATATTTTCAAGAGTGACTCTGACCAGCTGTGATTTCCACCTTACATGTTGTCTTTGGATCCTTTCCCTGAATGATATGAGATTGTGCTGGGAACTCTAGCCCTCTGTGTGCTGACCTCCAGAATCTGACAACTTTCCTTTCCAAACAGTTCAAGCACCAAGGCACGATCACAGTGAACGAGGAAGGCACCCAAGCCACCACTGTGACCACGGTGGGGTTCATGCCGCTGTCCACCCAAGTCCGCTTCACTGTCGACCGCCCCTTTCTTTTCCTCATCTACGAGCATCGCACCAGCTGCCTGCTCTTCATGGGAAGAGTGGCCAACCCCAGCAGGTCCTAGAGGTGGAGGTCTAGGTGTCTGAAGTGCCTTGGGGGCACCCTCATTTTGTTTCCATTCCAACAACGAGAACAGAGATGTTCTGGCATCATTTACGTAGTTTACGCTACCAATCTGAATTCGAGGCCCATATGAGAGGAGCTTAGAAACGACCAAGAAGAGAGGCTTGTTGGAATCAATTCTGCACAATAGCCCATGCTGTAAGCTCATAGAAGTCACTGTAACTGTAGTGTGTCTGCTGTTACCTAGAGGGTCTCACCTCCCCACTCTTCACAGCAAACCTGAGCAGCGCGTCCTAAGCACCTCCCGCTCCGGTGACCCCATCCTTGCACACCTGACTCTGTCACTCAAGCCTTTCTCCACCAGGCCCCTCATCTGAATACCAAGCACAGAAATGAGTGGTGTGACTAATTCCTTACCTCTCCCAAGGAGGGTACACAACTAGCACCATTCTTGATGTCCAGGGAAGAAGCCACCTCAAGACATATGAGGGGTGCCCTGGGCTAATGTTAGGGCTTAATTTTCTCAAAGCCTGACCTTTCAAATCCATGATGAATGCCATCAGTCCCTCCTGCTGTTGCCTCCCTGTGACCTGGAGGACAGTGTGTGCCATGTCTCCCATACTAGAGATAAATAAATGTAGCCACATTTACTGTGTATCTGTTATAATTCTCTATTTTTTGAAGCTCAAATATCAAAAGCCAAATCCAAATTCCTGGATAACTCCAGGTATGATAAAGGCTGAGAGGAAGTCACTTGAGCACCACAATGTGCCACAGCAGGGCATGTTCTCAGGACAGGACAGGTGTGTGCTGAATCCTGGGGAGGGTCTGTGCAGTACCCCAGAACTGTGGGGTGCTAAGTGGCACACAAGCCCCAGGGCTCCCACAGTCTATGCCAGGCTGCTGCAGCTTTCATCCCTCATACCTGGTCCTGCAGTGGGTCTGGTTTGACAGAGCAGATGACACCTGAGGAATATGTTTCTGGATCCTTCAATCCCTGGGTAAGACAAGTGAAATCCACAGAGGCTGTTCAGCACGCAAGAGTGCCAGTGCTCTTTCAGTGAGGGGATGACTGACGGTCACAGGTGCTGTGTGTGCAGGTGTCTAACTGTAACCCCCACAGCCTGGCAGATGAGGAAGACAAGGGTTGGAAGAGTTCTGAAACCTGTCCAAGATGCTGAAGTAGTGGGGCTGGGTTCAAGTGCAGGTTGGCTGGACTCCAGGGACCACACAAGGAGTCCTGTCACAGGCTTCTGACCCCATGAGACCAATACCAGTAAGAAGAGTGGTAAAAGGGAGTAGGGACGGAAGGGGAACGTCACTGCCCTTTGTAGGCATGCCTGTGGGTTATCTCACAGAGTCTCCTTACCCTCAATCCCTAGGGGGCTGGCACTGTTACCCCTCCTTTTTACAGCTGCAGAAGCAATTTCAGCTCACAGAAGGGAAGGCCTCTGCCTGAGGCCTGAATCCACACCCAGGCAGGGGGACCCTGCAGCCCTGCTTTCCCCTGCTCCCTTCCTGACTTCCCACACTGGGCTCTGCCTCCTTACTCTGCTGAGAGCAGATGGTGCAGGGGCTGGATGAATTGCCCCAAGCCATCCTCTCGGCTTCCTGGTGAACCCTGATGCTGCGGATGGCCCACTCCTTCAATTCATTCTCCAATCTGCTTCACCCCTCTTCTTTTCTGTCATTCTCCAAACTGCTTCACCACTCTTCTTTTCTGTCATTCTCCAACCTGCTTCACCACTCTTCTTTTCTGGTGCCTGTCCTATATTTCTCATCTTGCTGCAGCTTCCTTTTGGCTCTTCTCATTTCTAAATGTAATAATCTCAAAAAACCCTTTTAGTCCTTTGCCATGTCTGTCCCATACCCAGAAAGGCAGTGGTCACTTCTGCTCACCCAGCGCCCTCTCTGCTACAGCCGGTGTGGAGTC 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AAACATATGCAACCAAACTGAGAAAAGTAGGCTCTCAGAGGAAGGTATTTGCCCGGGTAGCCAGTCATCATGCTCTGTGAATTTTTCCTTAACAACGTCCCTTCTGTACCTGCCTCCTTCCATTCCTCCCTGCAGCCCGGCAGCTCTTGAGAAAGGGACTGCATCTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCATCATCATGGCTCACTGCAGCCTCAACCTCCTGAACTTAAGTGATCCTCTCACCTCAGCCTCCTGAATAGTTGAGACTACAGGCGTGCACCTTCATGCCCAGCTAATTAAACTTTTTTTGGTAGAGATGAGGTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTAACAGGCGTGAGCCGCTGTGCCTGGCCCATTTGACTTTTAATTGAGATCTTACTTGGTGCAAGGTATGAGCTAGGTAAAAGAGTGAAGAAGATCAAGCCTTCCTGCCCATCCAGCTGGGATTGCACCTTAAATCTCTTTATCCCCTGCAAAGTGCCAGACTAACTCCACAGGCACTACTGTTGCTATCCGCCCCCTTAGGGATTGAGTAAGTTGAGGCAAAGATTGAGAATATTCAGCATTGTCTAGTATATACAGGAAAGGTTCTTTTTAAAAGTACACTACCAGATATTCGACTCCTTAATTACAAAAAAAAAACCAAATGCCTAAAATTGGGAAACCAAACCAGAGAATTATTTTAGATGCCTTTTTAAACCATAAACCAGGAAAAGTTCTGCTGCTAACCTTGAAGATAGGAAACGAACCATACAGTCTCAAGGAAATAATCATGCAACAGAAAACACACCTCAGTTTTCAGTAGCGGAATTACAAAGGAGTGTGCTTCCTAAAATCCTCAACTGACAGTCCCGGAATATAAATTTTAATAAGTGCTATATCAATTCTGTGATAAATATAACCCGTGGCCCTTTAAAGGGAAAATCATGATTCTTTTGTAACTTGTGGTTCAATAAAACTGGGCCCCCCTTTCCTTTTCTGTCTAGAACTCGAGAAGTGCTTCTGCCGAAATTCAAGCTGGAGAAGAACTACAATCTAGTGGAGTCCCTGAAGTTGATGGGGATCAGGATGCTGTTTGACAAAAATGGCAACATGGCAGGCATCTCAGACCAAAGGATCGCCATCGACCTGGTAACCACTCCCTTGTCCACCCCCGACCCGTCCCCAGGGTCTGCCTCAGCACAGCCCCACCTCCACTTGCCCTTCCTACCCACCCCCCAATCTCATGTCCCAGCTTGGGGTGCTGAGTCTGCTCTTCGGCCTGGGTGGGATACACAGAATGCCTAGTTTCATGGATGCCAGCTGGAGAGCACGGCACCTGGCAGACACTTACTGGGCAGGGGGGATCCCAAGAGCAGCCATGGGGTGAGCCCCACTCCCGCTGACACCAGAGACAGGGGAGACATGTGCTGCGGTCTGGGAAATAGCTACCCCCAGCCAAATCATGAAAGAGCCATTAAACACCGCACTATACACATACTTAACTTAAACCAATCGGGCGCTCAGCAAAAGAGAGAGAACACCAGTCCAAACAGTGCAGCAGACCCAGTTCCCCATCCCGGAGAAGTGCGCAGCAGTGTGGGGAGCTGGAGCTGGGGTGGCTGTCCTGCACCAGCCCCCACGACCCTCAGACCACAGGCACTGCCAAGAGGGAACATGAACCTAGCCGGCCTCTAAGTGCAACGGCTGCCCCTGACAGGTGGTGACAGATATTTTCAAGAGTGACTCTGACCAGCTGTGATTTCCACCTTACATGTTGTCTTTGGATCCTTTCCCTGAATGATATGAGATTGTGCTGGGAACTCTAGCCCTCTGTGTGCTGACCTCCAGAATCTGACAACTTTCCTTTCCAAACAGTTCAAGCACCAAGGCACGATCACAGTGAACGAGGAAGGCACCCAAGCCACCACTGTGACCACGGTGGGGTTCATGCTGCTGTCCACCCAAGTCCGCTTCACTGTCGACCGCCCCTTTCTTTTCCTCATCTACGAGCATCGCACCAGCTGCCTGCTCTTCATGGGAAGAGTGGCCAACCCCAGCAGGTCCTAGAGGTGGAGGTCTAGGTGTCTGAAGTGCCTTGGGGGCACCCTCATTTTGTTTCCATTCCAACAACGAGAACAGAGATGTTCTGGCATCATTTACGTAGTTTACGCTACCAATCTGAATTCGAGGCCCATATGAGAGGAGCTTAGAAACGACCAAGAAGAGAGGCTTGTTGGAATCAATTCTGCACAATAGCCCATGCTGTAAGCTCATAGAAGTCACTGTAACTGTAGTGTGTCTGCTGTTACCTAGAGGGTCTCACCTCCCCACTCTTCACAGCAAACCTGAGCAGCGCGTCCTAAGCACCTCCCGCTCCGGTGACCCCATCCTTGCACACCTGACTCTGTCACTCAAGCCTTTCTCCACCAGGCCCCTCATCTGAATACCAAGCACAGAAATGAGTGGTGTGACTAATTCCTTACCTCTCCCAAGGAGGGTACACAACTAGCACCATTCTTGATGTCCAGGGAAGAAGCCACCTCAAGACATATGAGGGGTGCCCTGGGCTAATGTTAGGGCTTAATTTTCTCAAAGCCTGACCTTTCAAATCCATGATGAATGCCATCAGTCCCTCCTGCTGTTGCCTCCCTGTGACCTGGAGGACAGTGTGTGCCATGTCTCCCATACTAGAGATAAATAAATGTAGCCACATTTACTGTGTATCTGTTATAATTCTCTATTTTTTGAAGCTCAAATATCAAAAGCCAAATCCAAATTCCTGGATAACTCCAGGTATGATAAAGGCTGAGAGGAAGTCACTTGAGCACCACAATGTGCCACAGCAGGGCATGTTCTCAGGACAGGACAGGTGTGTGCTGAATCCTGGGGAGGGTCTGTGCAGTACCCCAGAACTGTGGGGTGCTAAGTGGCACACAAGCCCCAGGGCTCCCACAGTCTATGCCAGGCTGCTGCAGCTTTCATCCCTCATACCTGGTCCTGCAGTGGGTCTGGTTTGACAGAGCAGATGACACCTGAGGAATATGTTTCTGGATCCTTCAATCCCTGGGTAAGACAAGTGAAATCCACAGAGGCTGTTCAGCACGCAAGAGTGCCAGTGCTCTTTCAGTGAGGGGATGACTGACGGTCACAGGTGCTGTGTGTGCAGGTGTCTAACTGTAACCCCCACAGCCTGGCAGATGAGGAAGACAAGGGTTGGAAGAGTTCTGAAACCTGTCCAAGATGCTGAAGTAGTGGGGCTGGGTTCAAGTGCAGGTTGGCTGGACTCCAGGGACCACACAAGGAGTCCTGTCACAGGCTTCTGACCCCATGAGACCAATACCAGTAAGAAGAGTGGTAAAAGGGAGTAGGGACGGAAGGGGAACGTCACTGCCCTTTGTAGGCATGCCTGTGGGTTATCTCACAGAGTCTCCTTACCCTCAATCCCTAGGGGGCTGGCACTGTTACCCCTCCTTTTTACAGCTGCAGAAGCAATTTCAGCTCACAGAAGGGAAGGCCTCTGCCTGAGGCCTGAATCCACACCCAGGCAGGGGGACCCTGCAGCCCTGCTTTCCCCTGCTCCCTTCCTGACTTCCCACACTGGGCTCTGCCTCCTTACTCTGCTGAGAGCAGATGGTGCAGGGGCTGGATGAATTGCCCCAAGCCATCCTCTCGGCTTCCTGGTGAACCCTGATGCTGCGGATGGCCCACTCCTTCAATTCATTCTCCAATCTGCTTCACCCCTCTTCTTTTCTGTCATTCTCCAAACTGCTTCACCACTCTTCTTTTCTGTCATTCTCCAACCTGCTTCACCACTCTTCTTTTCTGGTGCCTGTCCTATATTTCTCATCTTGCTGCAGCTTCCTTTTGGCTCTTCTCATTTCTAAATGTAATAATCTCAAAAAACCCTTTTAGTCCTTTGCCATGTCTGTCCCATACCCAGAAAGGCAGTGGTCACTTCTGCTCACCCAGCGCCCTCTCTGCTACAGCCGGTGTGGAGTC 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Task1_train_28611 | The following genetic variant occurs in SNAP29 (synaptosome associated protein 29) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CEDNIK syndrome | TAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGTTTTGTTTGGACAGAGAAAAAAAAAGGTTTAAAAAAATGTATAAGCCAGGCGCGGTTGTACTTCTGTAATCCCAACAATTTGTAAGGCTGAGGTAGGCAGATCATTTTAGCCCAGGAGTTTGAGACCAGCAGGGGTAACTGCGTCTCTACAAAATTTGAAAAATTAGCCAGGCATGGTGGCACACACATGTGAGTGCAGCTACTGAGGAGGCTGAGGCAGGAGGACCGCTTGAGCCCAGGATGTCAAGGTTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCTTGGGCGACAGAGCAACACGCTATCATTTCCCCTTGCTGTTTTCTTGGGTTAATTCCCTTCCCCACCTCTCTCTGTTCATGTATCCCTCATTGATCCACCTCCCTGTGGTTTTTTTTTTTTTTTTTTGAGACAGATTCTCGCTCTGTCAC 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TAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCACGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGTTTTGTTTGGACAGAGAAAAAAAAAGGTTTAAAAAAATGTATAAGCCAGGCGCGGTTGTACTTCTGTAATCCCAACAATTTGTAAGGCTGAGGTAGGCAGATCATTTTAGCCCAGGAGTTTGAGACCAGCAGGGGTAACTGCGTCTCTACAAAATTTGAAAAATTAGCCAGGCATGGTGGCACACACATGTGAGTGCAGCTACTGAGGAGGCTGAGGCAGGAGGACCGCTTGAGCCCAGGATGTCAAGGTTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCTTGGGCGACAGAGCAACACGCTATCATTTCCCCTTGCTGTTTTCTTGGGTTAATTCCCTTCCCCACCTCTCTCTGTTCATGTATCCCTCATTGATCCACCTCCCTGTGGTTTTTTTTTTTTTTTTTTGAGACAGATTCTCGCTCTGTCAC 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Task1_train_28612 | The following genetic variant occurs in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCAC 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TAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTGCCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCAC 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Task1_train_28613 | Gene LZTR1 (leucine zipper like post translational regulator 1), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; LZTR1-related schwannomatosis | GTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGAC 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GTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACGACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGAC 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Task1_train_28614 | A variant affecting Chromosome 22, within the gene LZTR1 (leucine zipper like post translational regulator 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome 10 | CCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGC 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CCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAACGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGC 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Task1_train_28615 | Given this variant in gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome 10 | CACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGG 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CACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGCAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGG 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Task1_train_28616 | This is a variant in LZTR1 (leucine zipper like post translational regulator 1), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28617 | Gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28618 | Here’s a variant in LZTR1 (leucine zipper like post translational regulator 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; LZTR1-related schwannomatosis | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28619 | Given this variant in gene LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28620 | An alteration has been detected in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Noonan syndrome 2 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28621 | Here’s a variant in LZTR1 (leucine zipper like post translational regulator 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; LZTR1-related schwannomatosis | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28622 | Here is a mutation in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28623 | This sequence variant lies in LZTR1 (leucine zipper like post translational regulator 1) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Noonan syndrome 10 | TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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TGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGTGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGAC 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Task1_train_28624 | The gene MAPK1 (mitogen-activated protein kinase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Abnormal facial shape | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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Task1_train_28625 | This mutation occurs in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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Task1_train_28626 | This mutation is located in gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Specific learning disability | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA |
Task1_train_28627 | A variant affecting Chromosome 22, within the gene MAPK1 (mitogen-activated protein kinase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Heart, malformation of | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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Task1_train_28628 | An alteration has been detected in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Short stature | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA |
Task1_train_28629 | This variant affects the gene MAPK1 (mitogen-activated protein kinase 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Atypical behavior | AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGGGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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AAATCACTGTGGCTAACACCTCCTCCACTAGAGAGCCACATGTGTATGGGGCAACAGAAGACATGAACCAGCTCAGCCCCTGCTGATAACAGGCTTCTTTCTCAGTCACTCCGCAAGGCTTATGGCTAGCAGTCCACTGCACGTCCTGTTCGCGTGACTCCACAACACTTCCCTTGGGTTTGAGAGATCGTCTTTTGGGGTGCGTCTGGTGTTAACAGCAGGCTAAGTGAGGGCTTAACAGTGCCAGCAGCCCTGCCTCCCCCAAGTTGGTAGGTTTAGAAAACTTGGAGTCTTTAAGACTTTGCCTTTCCTCCTCCTCTTGAATTTGCCGCTTCTCACCACTTCATTTCTAGTCCAAGGCTACGGCCCCTTTGGTATGGAAGACCAGGCATTTGTTCTTAGCTGATCTCCTACCCAGTATTCCCTCATTTCAACCCCTCCTGCTTTGATGTCAGACTTTTGAAAACACCATTTTCCGGCCCCCAAACTACTAGTGTCTATTCCCTACCAATTCCTCGTTCTGTTGCCCTGCCTGGCTTTCAGGGCTATCTGCTTGGAGGCTGAGTTGGTCATGTCAGTCCTCAGCTCATGTCTACTTGGTTCTTTGTTCTTACTGACGGGGAATGGACGCCTCTAACTGCAACACGGTTCTGTCCAAAGCATCTCCCCAGCAACTGCTTCTACCTTGGCTCACAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCACAATTCTTTATTCACTGCTTCTTTCTATAGAGTTCTAAACACAAGTCCAGTTCTCTCTCCTCTTGTCACATACTCTCTAAAATCAAGATTTGCATTCTTTTCCTGTATACTTTTCTTTTCTGACACAGGGTTCACCCAGGATGGAGTGCAGTGATACAATCATAGCTCATTGCAGCCTTGGACTCTGAGATTCAAGCGATCCTCTCCCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGTTGGGCCTGCTCAATTTTTAAAATCTACCAATATTGTCACATTGTTCACCTTCCCTTATGATCTAAGCACATGTAGCTTCTGTGCAGGCCCATGTAAATCCCCCTGACTGGCCAGCCCAGCCTCCATCTCCTGGATGAAGTTTCTCCAGCTCTCCAGCCTACACTGCTAGTCTGAACTGGTAACAGGGTCTGGGCCCCTTGCATGTGACATCAACTGTAGAACCAGGTCCCAGCTAGGAGTTTCTGAAGGGGCAGGCACAGAGGACTCTAATACTAAATTTATTTAACTGGTGGCTCTGCTTTCCATGGGAGGGAGTCCTGAGGCGAACCCTTTCCAGAGAGATGCTCATGTAACTGTGAAACTGCTCTGGACAGGCAGCAAGGAAAGGATGAGAACCCAAAGATGAACAATCTGGAATATGAAAAAGTTGTTTCCAAATAATCACATTCACTACCCTTGAGAGTAAAGGAGGTACTTGGAGTTTCTAATAAACGAGAGAGAGATTCCTAGGAGAATATATGTAACTTTCTAAATAATTTTTAATTCTAAATTTAAAAAAATACCTTCCAATAAGGAGCTTGGAAAAGAATACAAAATAATGGACCTTGAGGAACATAATATTCTAGAAACAAAAGGCAGCGCCTCCCTTGCTAGAGCTCACTGTATTAAACTCCAGGTACCTGACAAATTTAAGATCTGTATCCTGGCTGGAATCTAGCAGTCTCTTCAAAAATTAGTTCTTTGAGCTTTTCCTTAGGCAAGTCATCCAATTCCATGTCGAACTTGAATGGTGCTTCGGCGATGCGCTTTAAAAGAAAACAAAACATTTAACAGTCAAAGTTGTTATGGGTAAGGCAGTAATTTACTGATTCATAAAATGACCACTGCTCAGATTCTGAATTTACAACAGGACTGATGTCTCATAAAAACTTAAGAGTTGATGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCCGAGTGTGGTGGTGCACGCCTATAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGTCTGGGTGACAGAGAGAGACTGAGAGTTGTGCCCACACTCCTCAAGTTCTCATAAACACTTAGCCTGGGAGCAACTGAATCTGTTTCAAGTGTTTTTCTGAACTTACCACAAATCCCAGAATAATTTTTAAATGTTTTAAGGCAGTGAATGTCGAAATAAGAGAAATGTGCTGCTGTTGGGGTGGTGGTACGTTTATCCAATCAACACCCATAATACTAAAATACATGCATTTCATTAAATAAATCATGGTATCTTTGTATGAAAAAACATCTTAGAGCTGTTAAAAATTAAGCTGCAAGGCCAGGCGCAGTGGCTCACATCTGTAATCCCAGCACGTTGGGAGGCCAAGGTGGGAGGATCATGAGACCAGCCTGACCAACATAGTGAAACTCCATCTCTACTAAAAATACACAAAAATTAGCTAGGCATGGTGGCAGGCCCCCGTCGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACGGCACTCTGGCCGAGGCAACAGAGCAAGATTCCATCTCAAAGAAAAATAAAAAAAACTGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATGAGGTCAAGATATTGAGACCATCCTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGAAGTGAGCCGAGATCACACCACGGTACTCCAGCCTGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAGAAAACAAAATTAAGCTGCAAGGAAGATTAATAGGAAAATGCCTATGTTGTGTCAAGAGAATGAAAACTATTTTATTTTTAAAATTTAGATACAGAAATACAAGACTGAGAAGGAAATACTCCAAAATGTTAGTAACTGTAACAAGATTATAAAGCTACATATTTGTAGTATGAAAAAAATCTCTCCTGTATTTTCTTACAAGTTTGCTTTTCTCTTTTTTTTTCTATACAAAACCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA 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Task1_train_28630 | Here’s a variant in MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Abnormal facial shape | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28631 | The variant affects gene MAPK1 (mitogen-activated protein kinase 1), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Microcephaly | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28632 | A variant was discovered in gene MAPK1 (mitogen-activated protein kinase 1), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28633 | The gene MAPK1 (mitogen-activated protein kinase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Specific learning disability | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28634 | This sequence variant lies in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Short stature | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28635 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atypical behavior | CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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CGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTGGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCAC 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Task1_train_28636 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Abnormal facial shape | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGCCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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Task1_train_28637 | Chromosome 22 houses a mutation in gene MAPK1 (mitogen-activated protein kinase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Intellectual disability | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGCCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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Task1_train_28638 | This mutation is located in gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Specific learning disability | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGCCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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Task1_train_28639 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Heart, malformation of | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGCCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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Task1_train_28640 | This variant impacts the gene MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Atypical behavior | CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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CCAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGCCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCT 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Task1_train_28641 | A genomic change on Chromosome 22 affects MAPK1 (mitogen-activated protein kinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Abnormal facial shape | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTTGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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Task1_train_28642 | A variant was discovered on Chromosome 22, affecting MAPK1 (mitogen-activated protein kinase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTTGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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Task1_train_28643 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Specific learning disability | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTTGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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Task1_train_28644 | An alteration has been detected in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Heart, malformation of | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTTGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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Task1_train_28645 | A mutation in MAPK1 (mitogen-activated protein kinase 1), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Atypical behavior | CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTCGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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CAGGCTGGAGTGCAGTGGTACGATCCCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGATTATAGGCGCCTGGCACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGTGATTACAAGTGTGAGCCACCATACCTGGCCCCATTTTTTTTTTTGAGACTGAGTCTCATTCTATTGCCTAGGCTGGTGTGTACTGGCATGATCTTGGCTCGCTGCAACCTCTGCTTCCCGGGGTCAAGCAATTCTTATGCCTCAGCCTCCAGAGTAGCTGGGATTACAAACATGTACTACCACGCCCAGCTATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCCATTTTAATTTTTAACCATACTCCAGAAAGCTATTTAAGTAAAATATAAACTGTCTATTTAGATCAAAGAACCCCATACACACTCAGTGACAAACTGATTATTATTTTTTAGAGAAAGAGTTTTGCTCTGTCACCGAAGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGAAACCTCGATCTCCTGGGCTCAAGAGATCTTTCCACCTCAGCCTTCTGAATAGCTGGGACTACAGGTGTGAGCCACCATGCCTGGCCACATTTTGATTTTTAAATGCCCGTGAACTAATGCAATGTTACAGAACTAAGCTGATGATAATACCAGCTGTCAATCAGTGAATGCCTAGAATCTCACCTCTCACCCATGTAATCCTCACATGGGGCCTTTAGGGGGAGGAAGCACAGACCCCAAACTCTGCACTAAGCTTTGGCCATCTGAAAGGGGAGAAGGACTCATGTCCAGAAGAATAAATAGCTCAGCCCGAAGGAGGGCTATGCATCTGGGATCACAGGAGGTGTCCTACACGCATCACCCACCACCCCAGCCAGCTGATTTGGACTCGGAAGCTTGGGAAATCTCCAGCCCACTAAGCTTGTAAGAGCCCCAAACCTGTATTCTCTCCTATTCTGTGTTACTGGCTATGTTGTAGGTATTTCACAAGCTGCCTAACTTGTTGCTGGAGGCAGAGAGATGGATGTGGAAGGGAAAGCTGATTCTTTCAAAAATAGGAGGGTAAAGACTATTCTCTGTGCATATGAGCCTCAACTACAACAATCCAAACTTTTGGTTCATATTGCATTTTTCTTTGTTATCCTCCAGAGAATAAAGTTAAAATTGAACCCCAGAGACACCAGAGAGCCAAGGCACTAGGACTGTCTTGGGGAGAACATGACATGCAGCATCTTCTACCTGAATGCCCTGCCTGCTCTGAAGAGCTGCCATATCCACTCTGGCCTCATCACTTCTTACAACAGGCTCTCGTGTCCTTGTCTCTAGGGAATAGCACACCCGACATGGAGTCGCCAAGCCACAGTGGAAACTGTCCAAGTTGACTTCCCTCCCCACTCTGTGTGCTGTCCCTGTCAGCAGGCTGCCCACCTCCTCTCCACCCCGGCCATCCTCAGGGCCAGCACTTCACTTCAGGTGTCTCTTCCTGTCACACCATGACAATGGCCTCCAGTCTCAGACCCATGCCCTCTGTGCTCCATACTGGTGCAGCTGTCCCCTTTATACATGCGTTTACCCCGCCCCTACCTGTTGCAGGTGGCCTGGAGGAAGTCTTCTGAGATAGACAGAGTTACGGGGGGAGGGATTTCAAGCTGTGCCCCACAGCACTCGTCCTCAAGGCAAAGGTGGGCTTGTTGGAAGAACCGGGTATGGCAGCAGGTATATCTCAGGAAAATCTAAGCAAGATATGGTTGGTCCACTGCTGGCTGATCTATGTCCCTGAAGCAGCAGCCAGGAACATGAGCTCTTACCTCGTCACTCGGGTTGTAATACTGCTCCAGATATGGGTGGGCCAGAGCCTGTTCTACTTCAATCCTCTTGTGTGGGTTGAATGTCAACATTTTGTCCAATAAGTCCAGAGCTATAAAGAGAAAGGTTTTGCAGTAGTGAGAGCAGAAGTAGTCACAGAAATACTTCAATTTCCTGTTTAAGTAACTTACCCACAAAACAACTGAGCTAAGCATGACTACAGAGAGAGCAGCCAGCACAAAGGGTGCTGACTATATCTCCAAGCCTCCCGAGACTGTGAACATAGGGACCGACCATCTGACAATTGCAGACCGCAAACAAAAACACTGGCACTACTTAATGAAGCGTCTTTTCTGACAATGATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAGCAATGATCATTTCTTATTAGGTTATTTGTAGGTAAAGGTCAACTTCATCCATCTGCAAATTAGCACATACTATTAAGCCCTCAAAGTAGAATGATAAAATATCATTATTTCTTCTTAAAACATTTTAAAATTTAATTGTATGTCCCTTCTCACCATTCCTAAAATGATAAACAATCACGTAAAATTTGGTACAATTTAATACTCATGATCAGTTTAAGGAATCACTTCTAGCCACTACTTTCAAAAAGTAAGTTTTCACTATTTACTAAGAAAATGTTTCCTAACCCTTAAGAACAATCAGTAGACCTTCCGAAGGGATTGCTTGGGTGCTGGGGGGAGGTGGGAGGCATCTTGCTGCCTGAGGTCACTGAAGGGCTGTGGGTGTGTATTTGTGCTCAGCCCCGGCCAATTTTGACCTCCCTTGTTGCAACCCCTGACCTTAAGACAACAGGAGATGATAAACATGGTAAACCACATGCTGGACATAATGAGAAATTCCGCATAGAAAACATTTAAAAGTTATGTATGTTTCTATCTATAATCTTTTCAATACATACAAGTGCACTTTAGGAAATTACGGAATAATGATATTTTGTTTTATAGCCTAGATAACTTTTCAGAGTAGAGAATCCAGACAGGTTTTGCTGTGACTGAAGGAGTGTCTGCGCAGTAGAAGAGGTGGTCATGCCTGCAGCTGTGACCCTGGGTCTGTGGGCACACAAACTGGCTAGGTTTAGGAAGTGGCCCTCTCAAGGGTCAGGACAAAGACGCATGATGGTCAAGAACCCAGGAATCTCTGGTTCAAATCCTACTTCCAAGGAACACTTGTAGATATGTGTGCAAGACACACAACCCTTGCCGAATCTTAAGATTCCTGTGGTTGGCTGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTCCTGTGGTCTATAATATAGGTAATAAATCCCACTTTGCTTCCTGCTCCCAACCAGCCCTCCCCACATAGAACTCACAGACATTTTCTCAAGGACTTTCTTGAAACTAGATTAAGTCATTTGGCTTTTCACCCAATTAGATACTGTCTGTGCTAAGAAAAGTCCAGAAGGCCTGGACCACAATAAGATTCTA 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Task1_train_28646 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Abnormal facial shape | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTGCAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTACAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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Task1_train_28647 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Macrocephaly | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTGCAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTACAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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Task1_train_28648 | A variant has been detected on Chromosome 22 in MAPK1 (mitogen-activated protein kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Specific learning disability | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTGCAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTACAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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Task1_train_28649 | Here is a genetic alteration in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heart, malformation of | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTGCAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTACAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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Task1_train_28650 | Here’s a variant in MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Atypical behavior | CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTGCAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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CACCAACAGCTCCCTTTACAACTGGCACTGAACACTGGCATGCCAATGCTCCTTGTTTAGAATGGCTGTCACGTGGCCAGTCAGAGAAAGAACCTGTTGTGTGGGATTATTTGTGATATAGAATTACAGAGAATCAACATGGCATTTTCTTCTCTGAAACATCTGTTACACCAAATCCTTCTTTATAATGGAATTTATGTTAATGAGATTTTACTTTTATAACTAAACTGAACAAATGTAGGATATCAAGAAAAACTAAATGCTTTAAACAAATTCCATTTCCTTATGAAAAAATCTAATAGCTTATCTGTACTAGTAATAAAGGATGGAGGAAGAAAAAGAAGACTATAAGCTAATTAGACCTGTTCTTTCATTTCCACTAAGCCTCTCAGGACTATTTCTGGTTCCTGGGCCCTAGATACAAGATCCAATGTCTATTTTTATTGCTTTTCTTCAAGTATCTTTACATGACAGCAGAGGGAACTGTGTTTAAGAATCTTATAATCCTGAGATACTAGATACAGGTAGTATGTCAGGCCTACTTAACTACTCAATTTTCACACCTTATTCATATATTATTTGCAAATAACAGAAAAATACTGAATCTCAATCTCCATAGCAGCCCTCAATTTTTGCCTCCTGGCTCATAAACCCAACAAAAAATGTCAGACTTCACTTTTCTGGGCTTTTGTAAACTTATTCAACCATTTCTTATGACCAAGACACAGACCTTGCTAGTAGAGTGTGGATGAGACCTGGATGCACTCTCTATAGCCACTCACAGATGCAGAGGAAAGCACTTCATTTGGAAGCAGGAAATCACGTAATTTCAAAAGAATCCACGGCAGTTCCTACTCTGTCCACATTTATGTTTTCTTCAAGTACAACAAATTACAATATAATTCTGCCGAAGAGACATTCTTCATTATCAGATAAATTTGACCTTTATAGAATAGCCCTGGCCCATGTTCACAGAAATACACATTACTGAATAACCTCTACAACAAACCCAGCCTGCACCTAACAGTGACAGCGATAGGTAGGACTTCAGGACAGCTGTCCAAGGAGTGAAACACAGACCACTTATGGTAACAGTGACTGGAGAGGCACACCCCCTCCTACTCTACAACCGTCAGCACTATATCAGCTGAGGTAGAGAGGCTGAGCCCTAGGGCCCAGAAGTTCAATGCCGAACAAAATTTAGACAGCACCTTGGGGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTTTGCGGGGGGCGTGGGGGGTGCTGAGGTGGGTGGATCCCTTAAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGCGACATAGGAAGACGCCCTACTTTTACAAAAAAAATTTAAAAATTAGCCAGATGTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCATAAGGTCAGGAGATAGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGAGCCTGTAGTCCCATCTACTTGGGAGGCCGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCTGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATTAGCCAGGTGTAGCGGTGCACTCTGTAGTCCCAGCAACTCCGGAGACTGAGGTGAGGAGGGTCACTTGAGCCCAGGAGGTTGAGACTGGTAAGCCGTGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAACACCCTGTCTCAAAAAAGACAGCACCTTGTCTCTGGCCAGACAGGCAAACTCTCAACGCAGAGGGAGACTTACGGCTTACTGCAATGCATTCAGAAAGTTCTCTTACTTACTGGATTTCTTTTTATGCAAACTTCATCCTTACCTTGGAATTCAACATAATTTCTGGAGCCCTGTACCAACGTGTGGCCACATATTCTGTCAGGAACCCTGTGTGATCATGGTCTGGATCTACAACACGGGCCAGGCCAAAGTCACAGATCTAAGAGAGAAAAAAAACAGGATAACTTCTTAGAAATTCTAACCTTTCATATCAAAACATCACAAAAATAAAAAAGGCAATAGGAATAATAATGCTACTAAGTGGCAGATACTTTCTGGGCATTCTAGAAAATCATTATTTAATTTTCCCAACAACCTGAAAAGCAATCAACATGTTAGAGACCAGGATGCAGGCTGAAGAAGTCTTTACAGAGCACACTTTAAGAAGCATCCCTACCTTTCATTATCTGCTTAGCACAAAGCAATCTCAATAGGTGAATTGACAAAAACTGTTCTGAGTAGTCACCAAAACCAACCAGTACCCTTTTCTCAGCCTGTCCTGCTGGAGCTCTCAGGACTGCTGTGAAGATCTGCACTGGCCTTCTATTCTCAGACTCTACTTTCTGCTAGTCTTCTACTTAGTCTATAAATATAAGTATTTCCAAAGATTCTTCCCACTTCCTTCTTCTAGGTAGTCAAACCTACTCCCAAAGCTTTTTTTTTTTAAAGTTTCATATACTTAAGAATATTTTATTTTTAAAAAATACATAGTTTCTCATTTTCTCCGGTCTCAAGCATCTACTGGCCTTTCATCATCTGGCCCTCCAATATCATGGTGTGGCTTATTTTCTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATTCAACCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCTGGCCATGATTTTTTTTTAAGGTCTGTCAACACTATAAAATCAAAGACTAACCAAATTTACATGACACTAATCAATACAATGCCAAGGCTACAAAATAAAAAAGCAGTAGTACTCAGTATAATTCCATACAAAGGAAAATAAATAAGGATATGGTACAAGAAAATATACCTTTTGGGCTGTGTAAATTCAGATTTTCAAAAACAAAGGATGCCCCAAAGACGTGTTTCATTTGTATCTATCAGAGTCTTTCTTTCATAGGCATAGCCAGAATTTTCACATGTTGTGATCCCAGCATCTTGTGACTCCTACTGGGATTTCTGTGGGATCAGTCTAGTAAACAAGGGCACAGACTAGTATAGCTCACGTTCCCTGGTAGTTACACTAGAAATGTGCTAGCAGAGCCTCCAAATAGGGTCTGTAACCCTGGTGAGTTCCTGTGGTCCTGAAGAATAAAGTCTACAAGAGAGGATCCCGGAAGGGTCCTAAGATGTCAATGTCTGCTGGGTCTTAAGCTTCATAAAATAAGTGCAAAGCATGTTTATGGAAACCAAAAAGCAAGCTTATTTCTGTCGGCCTTGACTGATAACAGAGCCAAAAGTTAAAGGTCTAAGACACTGATAATAGCTGATATCGATAAGGGTTCAAGATATTTTGGTAAGGGTTCAAGAGTAAAAAACACTGTAACATAGAAGTCATTGGATGAAGGTTGAAGAAATCTTCTTGAAAATCTGAAAGGACCTAAATAACAGGAGGTCAGTGACGCTGCAAGTTACAAACTTCCTAGGCCAAGGGGCCTGTGGGAATAGGCATCATGGTCACATGGCACTGAGGATGTGATAAATGTGCAGTGATCCCAGAGCTCCAGCAAACACAAGTCCTCTCCTCATGTGGTGTTCTCAACTGTCATATGCACACTGAACTGCCACTGCCTCTTGCCCTGCTTTGACACGCTCACTGTAACAAATCAGTGACATACCATACTCATCTTTGAATGAGATTCTCTCTTCTCGCATTTATACCCATGAGAATGATGCACACACATTGCTGTATACTTTTTTTTTTCTGAGATGGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCACTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTGTTTGTATTTTCAGTAGAGACAGGGTTTCACCAAGTTGGTCAGACTGGACTTGAACT 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Task1_train_28651 | The gene MAPK1 (mitogen-activated protein kinase 1), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | GCTGGGACCACAGGCACATGCCACCACGCCCAGATTAATTTTTTTGTATTTTCGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGCTCCGGAGCTCAGGCAATCCACAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAACCACTGCACCCAGCCATTTTGAGTTAATTTTTTCATCTTTTTGTATGTGGCTATTCAGTTGTCCCAGATTCATTTGCTGAAAAGACTATTCTTTCCCCAGTGAATGGTCCTGGCATCCTTGCCAAAAATCAGTTGACCATAGATACACGGGTTTATTTACTGACTCTCACTTCTATTCCACTGACCTATATGTCTATTCTTATGCCAGTAGCACACTGTCTTGATTACTGTGTTTTGCAGTAAGTTTTGAAATCAGGAAGTGTATCAGTTCTCCATATGAATTTCCATATGAATTTTGGGATCAGCCTGTCAATTTCTACAGAAAAAAACAACTGGGGGCTTTGATAGGGATTGCACTAAATCTGCAAATCAATTTGGAGAATACTGCCATCTTAACAGTATTAAGTCTTATGATCCACAGACATGGGATGCCTTCCCATTTATTTAGGTCTTCTTGAATTCCTGTGCATTTTTTTAGACTGAATCGACATCGCTCCGTCACATCTAAGATATCCATAAATTTCCCTCGTTTACCTGTAACACCCATTAAAACAGAAATATGTAAATGCTGCATATTTTCAGAACTCTGAGGACTGTAAAGAATTTGGGGTTTTCTTATTTAGTTGGAATGCCTTATTAGGTATTAAAGTCAGTGACGTTAAGTTTTCTGCTGCTATCTTTTGAATAAAATTTATTGAAGAAAAATGTCACCAACAAAACATGATTTTAAAACTAACACATAAGGCCAGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACAAAAATACAAAAACAAAGAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGGGAACCTGGGAAGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAACAAACAAACGAACAAAAAAACTAACACATAATGTACGTGATCCTGTTTATCTATATAAAGTATAAAAATACACATGTATGCAAGAGCATAGAAAATACTTTGGGAGAAAATACACTTTGTTTTTTAGGACAGAGTTTTGCTTTGTCACCCAGGCTGGCGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGGTTCTCCTACCTCAGCTCCCATGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATAAGGCCCACCTTGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCAACTGGCCACCAATTTGTTATAGTAGTTAGTTATCACGGCCTGGTGCTGTGGCCCACATACATAATCCCAGCACTTTGGGAGGCCAAGAAAGGAGGACTGCTTGAGCCCAGGAGTTCCAGACCGGCCTGGGCAACATACTAAGACTCTGTCTTTAAGAAAAAAAAAAAAAAGGTATCTCTGGGGAGAAAGGAGCAATGGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACA 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GCTGGGACCACAGGCACATGCCACCACGCCCAGATTAATTTTTTTGTATTTTCGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGCTCCGGAGCTCAGGCAATCCACAGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAACCACTGCACCCAGCCATTTTGAGTTAATTTTTTCATCTTTTTGTATGTGGCTATTCAGTTGTCCCAGATTCATTTGCTGAAAAGACTATTCTTTCCCCAGTGAATGGTCCTGGCATCCTTGCCAAAAATCAGTTGACCATAGATACACGGGTTTATTTACTGACTCTCACTTCTATTCCACTGACCTATATGTCTATTCTTATGCCAGTAGCACACTGTCTTGATTACTGTGTTTTGCAGTAAGTTTTGAAATCAGGAAGTGTATCAGTTCTCCATATGAATTTCCATATGAATTTTGGGATCAGCCTGTCAATTTCTACAGAAAAAAACAACTGGGGGCTTTGATAGGGATTGCACTAAATCTGCAAATCAATTTGGAGAATACTGCCATCTTAACAGTATTAAGTCTTATGATCCACAGACATGGGATGCCTTCCCATTTATTTAGGTCTTCTTGAATTCCTGTGCATTTTTTTAGACTGAATCGACATCGCTCCGTCACATCTAAGATATCCATAAATTTCCCTCGTTTACCTGTAACACCCATTAAAACAGAAATATGTAAATGCTGCATATTTTCAGAACTCTGAGGACTGTAAAGAATTTGGGGTTTTCTTATTTAGTTGGAATGCCTTATTAGGTATTAAAGTCAGTGACGTTAAGTTTTCTGCTGCTATCTTTTGAATAAAATTTATTGAAGAAAAATGTCACCAACAAAACATGATTTTAAAACTAACACATAAGGCCAGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACAAAAATACAAAAACAAAGAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGGGAACCTGGGAAGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAACAAACAAACGAACAAAAAAACTAACACATAATGTACGTGATCCTGTTTATCTATATAAAGTATAAAAATACACATGTATGCAAGAGCATAGAAAATACTTTGGGAGAAAATACACTTTGTTTTTTAGGACAGAGTTTTGCTTTGTCACCCAGGCTGGCGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGGTTCTCCTACCTCAGCTCCCATGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATAAGGCCCACCTTGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCAACTGGCCACCAATTTGTTATAGTAGTTAGTTATCACGGCCTGGTGCTGTGGCCCACATACATAATCCCAGCACTTTGGGAGGCCAAGAAAGGAGGACTGCTTGAGCCCAGGAGTTCCAGACCGGCCTGGGCAACATACTAAGACTCTGTCTTTAAGAAAAAAAAAAAAAAGGTATCTCTGGGGAGAAAGGAGCAATGGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTGTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACA 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Task1_train_28652 | A variant was discovered in gene MAPK1 (mitogen-activated protein kinase 1), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Abnormal facial shape | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28653 | This mutation occurs in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microcephaly | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28654 | Gene MAPK1 (mitogen-activated protein kinase 1), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28655 | The gene MAPK1 (mitogen-activated protein kinase 1), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Specific learning disability | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28656 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short stature | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28657 | Given this context: Chromosome 22, gene MAPK1 (mitogen-activated protein kinase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atypical behavior | GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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GGGATAAGGAAGAAGAAGAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATATCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGC 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Task1_train_28658 | This alteration occurs within gene MAPK1 (mitogen-activated protein kinase 1) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Abnormal facial shape | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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Task1_train_28659 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Microcephaly | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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Task1_train_28660 | Consider this mutation in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG |
Task1_train_28661 | Here is a genetic alteration in MAPK1 (mitogen-activated protein kinase 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Specific learning disability | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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Task1_train_28662 | This genomic variant is located on Chromosome 22, within the MAPK1 (mitogen-activated protein kinase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Short stature | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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Task1_train_28663 | This variant lies on Chromosome 22 and affects the gene MAPK1 (mitogen-activated protein kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Atypical behavior | GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGATTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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GAGGACTACCACACTTTATTAGCATTTTTGCCATAAACATGTTTTTGGGTATTTCTGGTGTAATTTAAAATATGAATAATGACAAATATAACTATGCTTCAGTGAAAGGGTTTTTCAATATATATCACCTTAATAGTAAATAACCTGGCTGACCTTGAGATCACAGGTGGTGTTGAGCAGCAGGTTGGAAGGCTTGAGGTCACGGTGCAGAACGTTAGCTGAATGGATATATTTTAACCCTCTGAGGATCTGGTAGAGAAAATAGCAGATATGGTCATTGCTGAGGTGTTGTGTCTTCAAGAGCTTGTAAAGATCTGTTTCCATGAGGTCCTGTACTATATATCTGTTTGCACAGGTTAAGGTAAAACACCAATTAGCTGGTCACATTTAGCAAAGCATTGAAAACAAAAATGCATCCTCTCTTGACTCTCTTCCCAAACAGTCCATCATTACACCATGAAGCCCTTAAAGGAAAGAAGAAACTGAGGAAAACTTGGTTTCCTTCATGGAAAGAATCTGAAGTCGTTAACTCCTTTTAGGTCCTGTGAGATGGCAGGCATTCCAGCATTACATCTGACTGATGCGGCTATGGGCCTAGACTGAGATCTGAAACAGGCTGTTAGGGAAATTCTGGTCAATCTTGAAGTCTCAACCTCTTTGCTCTCTAAATTGTCCACCATCAACGAACCCCCTCCAAGGTTTGCTGGAAACACTGTTAGCCTGTAAGTAGCAGATACTCCCTCCTCTGTTTGGTCCAGTAACCTGTAATGTCACTATTCTTTTTACTTCTTGTTGCCGCTCCCCTCCTCTCCCAAGCTCCTCAAAAGCCAAACATAAAACTTCCAGAAATACAGGTCTAGAAACATACTCTTACTAGTAAATCCAACCCTAAGTCTATTTTCTTGACTCTTCCATTACTGTTAAGATCTTAAATAAGTAAGACTATGGGCAAGTCGTTCTAAGAAGGGGTTTGTGCTAGTTTTCCTCCTCATGCTTTCTTGCCTGGTCACGTACTTAACTACCTAAAAGTTTAGCTATGGCTACTTTCTTTCTCACAGAAATTAAATTATTAAAGCATTTAGCCTTTAACTTCATCATAGTATTATTTCATTAGCAGTATTTCTACATTTCTTTTACTCACTTCTGTGTAAACACTAGTCTCTGTTTCTTACAGATTTATGCTATAGGAGGCGCAGCATGGGATTCAAAGGAAACATGATTTAAAAATCTGTCATCTGAGAGAGGCTTATTTTCATGGCAAAAAGTAAAGCAGGACCAACAGGTGGTAGTGGCAGGAGGCATTTCACTTCAAATATCACTACAACTTATTAACAGAGCTGTTTAAAAATGGAAAGGGCTGCCTAGAAACAGCGAGCTCCCGCACCCTGGAGGGGCGGAATACAAATTGGGTAAACTGGTAGGAGTGCTGTATAACCCTTTCCCTTCTGGCAGATCCTCTTCAGTATACTTAACCTCTCTATCTTTCAAATGGAGCCTTTACCCAGGCAGCATCCTCTAGATCTGTTCAGTCCAGATTTCTAAATGTTGGTCAGAGTTAATCACATAATTTCAGACCTCAGTTGACCTTAAAGATCATGACGACCAGTTCCTTCATTTTAAAGGTGGGGAAACTGAGACCTAAAGTGGTAACCTGACTCTTAAGATCAGGACAGTCCTGATTTCACCAGGTAGATAGCCAGGGCACCCTCTTTCTTAGTCTACTACTGATCTTCCCTTTACCTTTTCATCATCACAACAAACCATCCCTTGGACAGAAGAAACATGACTGCAAACAGAGTTAACCAAGATTTTCCATGACTAGACTTAGGGAGTAAATAGCAAACAGATTACGATTTTCCCTTTAGCATGTTTAATGCACTTTTCCTTTAAGTTCAGGAAATTTCAAGTTCTATTTACTCAACAAGGTTACCAAGCAGTGGAATTGGCCAGTTGCCTAAAAAGGATACACATCTTTCATTTGCTCGATGGTTGGTGCTCGAATAATGTCATTGATTCCAATGATGTTCTCATGTCTGAAGCGCAGTAAGTTTTTTATCTCCCTCAGGGTTCTCTGGCAGTAGGTCTGGTGCTCAAAGGGGCTGATTTTCTTGATAGCTACTCGAACTTTGTTGACATTATCATAAGCAGAGCTTAAAAAAGAGAGAGAGAGATGGCATTAAAAACAGCCCTCAGAATATTTGAAGAAGGCAAGTTGGTAAAGTATTATATTTTTAACACTGTGTAAACACCTGTTTCATACCCGTGAAGGCAGCATGTATATTATCCACAAAAAGGCCTCAAGCTAGGGAGGATGGATGCAACTGACATGAGAGAGCACACAGTGACTCTCAAAACTAACAGAGAACCTAGCCCTGTTAACTGGGTGAAAGTCTTGCCTTTATAAACCCAGAAATACACAAACAAGCATTCTCCCATTGTCTTAAACAGCAACTGCATTCTGGTGAGAGTAATCACTTCTGTCTCTGAAACACCTTCTTACTGTTGTATCAAATTCCTCTGACACAGAAGAAACATTCAAATAACCTACAACTGTACATCTTTATCCCTAACAAAAATGGACCCAAGAGAACACCTTGATTACTTCTATTAACTTTGTTTCTCTCACTTGCAAAACAACATGACCATTTCTTCCCCCAAGAAACTGAATCAAGATGTTTGGGTAGTTTTATAACAAAACCTAGAAAAGTATTCTTCAAAAAACATATTTGTGGCAATAACATGGGGCCCAGTTCTTTCCTAGTTGTCCTTAATGTCTGATAAACCAGAATTATAAGCAAAAGCAATAATAAAAATTATACCTTCAATTTTATGAATTTGAATCTTGAGTATTACTACTATCTTTATGATAAACATTCTATTACAATCTTGTGTATAAGAAATTTTCATATTAATAAATGTCAACATCTGGCCCACTGACCAAAGCAATCAAATAACATTGACAGGCAGTAAGACAACATTTCTTGTTTCCTTGGGGTAAGTGCTAGAATAGAAAGCAGTAAAATAACTTTATTCTAAAATTTATGCTTCTAGGGCCGGGTGCAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAAGCTGGGGCGGCTGGATCACTTGAGGACAGGAGTTTTGAGACCAGCCTGGACAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGCAAGTGCCTACAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGAGATGCACGTGGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCTAAATTAAATAAAGTTTATGCTTCTATAATATTTATCAGTCTACTAATCCTAAGAATTATTGATACATTTGTCTGATTCTATGACAAGATAATGCTCTGGAGGAGAACTTTGTCTTACTAGGATCCAATTATCCTACAACACCATTAACATATAGTACACAGGTGGCCCCAAATGCTTTGAAATGAAGTATATTTTCTTAAGTAAAATAACCACTACTCAAATCTTATTTTGCTTTGGTTTGGTACATGAGGCCCTAAGCCAGTGATTTTCAGTTAGGCAACAGCATATATAATAGTAATAATTTAACATAGTATTAAAAAGCATATATAATAAGCAAGCTTATTCAATATTGGGAATATTTTTAGAAAAAAATTCTATTTTGGTAATTCAAATCATAGAACAAGAGTTCAACAACAGCACGGATTAGTTATAAAATGCTGGTTTAAACTCAACATTACAATTTTCTAGTGTTAATATTATAAATTTCTAGTGTTAACAGTCACAAGTGGTCATAATTTGTTCTGCAAAATTATAATCCAACAAAATTTTTGGAGAGAGGAGTTTATGGTCAGTGTGCCCCTCTACTGTATCAACACTCAGTGACGAAATAACTGCCCTCCCCCCCGGCCTCTTTAAAATTTTTTTGTGGAAGCAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCCCCTCCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAG 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Task1_train_28664 | Mutation context: Chromosome 22, Gene CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ACAACCCAGCAGGACTCCTCTTGCAGAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTG 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ACAACCCAGCAGGACTCCTCTTGCAGAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGACCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTG 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Task1_train_28665 | Located on Chromosome 22, this mutation impacts CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant mitochondrial myopathy with exercise intolerance | GAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCA 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GAATCTGGAATTGCTGAGAAGTTGCATCAGCAAGAGGGGCAAGGTCAGACAGGATTTGAGGCCGCCAGGGGCACCTAAGCTGTGGGTGCAGAGAATGGGATGCAGAGGTAGAGACAAGAAGGGTAGAGGTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCGCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCA 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Task1_train_28666 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal dominant mitochondrial myopathy with exercise intolerance | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGAGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT |
Task1_train_28667 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Lower motor neuron syndrome with late-adult onset | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGAGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT |
Task1_train_28668 | This gene mutation involves CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT 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GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGAGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT 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Task1_train_28669 | This is a variant in CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGCGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT 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GTGGCAGGTATCCCTGATAAGGGGGAGACCATGGGTTCATCCTGGGATTCCACCCTCAGAGTCAGATGCCCTTGGGATCACCGACTAATGCCTCTCCACCTCACTCTGGACTGCCCAAGGAATCTGTCCTGTGCTACCCACAGTGCAGATTGCAACAGGGCTCCTCCTCCCCACCCAGGGCCCTGATTAAGGGGATGGATTGCACACTGTAGTGAGACATCCATCCTGACCCCACCTCATCAGCCAGGGAGCTCCCTGAAGACAGGCCATCGAGAGAGGCACACAACAGGCTGTGGTCTAAAATAAACTTTTAATTGCACATTTGTGTCTTGGGTTATCTGTGGGGTGAGAAACCTCCTCACTTCCAATCCCAGCTATCTGGGTACAATCTGGTGTTGTGGTCTGGCTGTCGGCGAGGGGTAGAGGTGGGTGCAGGACTGGCCCCCGAGTCTGCACCGACCTCTTCAGGGCAGGGAGCTCAGACCTGGGAAGGGAGGGGCAGCACAGGCTGGTGGTCAGCCTGCAGGTGCAAGAGGAGGGTTGGCCTCTCCCCCTCCCCGCCTGAGTCGGGGTCCACTCACTCACCATGGTAGTACTTGCACTGCTTCAGGGCCTCGCTGAAGCCCTCACACAGGGACAGGTCACTCTGAGTGGTGGAACAGTCCAGGAACTGCCTGATCTCGTAGGCGCAGGGCCCCATCTGCAGGGGCTGGGGGGCAGCGGGGGTGGGGGCCTGGGGGTACAGTGCAAGAGGCTGCAGGATCAGCTTGGAGTTGGCACCTGGAGGTGCGTTTCAAACCTGGGGCCACCTGCCCCTCCCCACATCCCCAGCCTGGGTGTCCCAAGGGTCCTAGGCAGGCTGAGTGATCCAGCAGCAGAGGCGGCTACAGACAGCATGTTTCTGCTGCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGAGTGGAGTGCAGCGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGGTTGTCCTGCCTTGGCCTCCCAAGTAGCTGGGGCTACAGGCGCCCGCCACCATGCCCAACAAATTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGAACTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTCTGCTGCCTTCTAATGGGCACTTTGGGCGGGTGCAGGAGAGGGAGGAGAAGGCTCTAGGAAAGCCCAGTACTCTGCCTGTACTCTCAGAGTATGAGCCCCACCCCCACAAGTTCTAGCACCTTCCTGGCTCAGCTACACTAATCCTCATGACCCCTGACCTAGCCACAAAGCCACATTTGGCTTACGGCGGTGGGGTTCCTAGCAGGGGAAAGGTCATCAGGGAAGTGGCTCCCCTTCGCCCTTGCGCCCAGCGGCCACAGTGCCCAGACCTGGGTGTGGGGAGAACAGGGGCTCAGGAAATCCAACATCCCTCCCCTCTGCTAGGGTGAGGTGACCTTGGGCGAGTCTCTGAGCCCTCAGGGCCTGGGTTTCCCATCTTTAAAGGGCTGGTTGGTGTCTCTCCCTGGGAGCTTAGGGACCCTGGCCTCAAGGGAGAGGCCGGGAAGCCTGCCTCTAAGTGACAGTGAACTCAAGACCAGTGGACTAGGACCCTTCCCGGGCAGAGTCCTGGGCTGAAGCAATGGTGAATACACGCGGACACTCCTCACTGGACACTTGGGCAGCTCCCTGTGTGGCCTCGAGATAATCCTGCCTCAGTTTCTCTTGGACTCGCTGCTCACCTGCTGGACAGCAGGCTGGGAGGGCTCCGAGCTCCCCCCGCTGAAGGCTCCGGTCAGGGCGCTGCCCATGACGTGTCCCACAGCCGAGCCCACGGCTACCCCTGCGGCCGTGGTCGCCATCTGAGCCATGAGCCCCGGCTGGCCCGAAGGGGCGGGGGCTGGGGCGGCTGCCGAGGGCGGTGGGTGCGCGGGCGGGTGGGCAGAGGGCGCGGCTGGGAGGCTGCGGGGGTGGGAGGAAGCAGGGTTAATCCTGGCCAGACCCCAGGCTGGAGGGCTGCAGCTCCTGGAAACGACCCCCGGAGAGATGGACGACCCACGTCTCCACACGTGGGTGCTGCACCCCCACCCCTCCCCCCGCCAAGATGGCGCAGCAGCAGCCAAGGTCACTCTGCGGACGCCCTTAGGGGAGTGCCCACACTTCCCTAACCCCCTCCCCACAGGGCCCTTGTCCCCCTCACACCTGGCTGGCCGGGAGGCCGCGCTGCGGCTTCCCCGAGGCATGGTGGCGGCGGTGGGACCCGGGCGACCTTAGAGACGGCGGCAGCGGTGCTGTCGCGGGGACAAATGCCGCAGCGCTTGTCACAGCCGGCGCAAAAAAGGCGGGGCCCCGGGCGGGGCCTCAGGAACACGCCCCCAGCGGGAGGCGGCACTGCCCCCAACCCTATCCCCCTTCTCCCGTCCTCCGGACATCTCCCTTCCAGCAGCTCCGGGTCTCGGCTGGAAATGGGACCCTGCTCCCTCCCTGCGCCTGGCAGGCTGTGCGGGTTCTGGGGACAGGGGCCAGTGTCGCAAAGCGCCGAGGGCTTAAGGAGGGCGACAGTGCCTTCTGTTAGGACCACCGCAGAGGGCAGGGAGCGGAGTTGGGGGTTGTTGCGAGCCCTGGAGGGGAGAGGAGACGGGGAGGCGACGGGATGGGGCCAGCTGGGAAGGGGACGCGAGGCTCCAGGCTGGACTCCGCTCTCTGCCCCCTCCCGGACTCGGCTGTCTGTCCCCTCCCTCCAGACAGGGTCTGCTGACCACCGCGTGGCCTGGGAGTCTCCGGTGGCCTAGGGAAGTGAAGCGCGGCCCTGGGGAAGGCCTGGAGCAACCCATCCCCAGAACTCCCACGAGGGGGCGTCCCAACCCGTCTTCGACTGTTGGCCAAAATGCGCTGCCAATGCTGGCAGCCTTACGCAGTGCCCGCGGGGGATATGAGGCCCCCCGCGCGGCCCTGAACCCCACCGGATTCCCCGGGCCGGCCCGACCGCCCCCACCTAGTCCCTGGCCCCGCGAGTGCAACCCCCGACACTAACGGCCTTTACGCGACATCCGAGCAGCGTGTCTATCCCAAAGGCCTAGGAGCATTTGCCCGGCTCGGTCAAATCTAGCGCAAGTTTGAAGCCTGCGGCCTCGCAATTTTAGCAGCTTCGTTCCAGGCCAGGTGAGCTGGAGCGCGGATTTAGAATGCTTTCCTGCTCTTCGAGAACTTGAGGTTTTAATTTTACTTTTTACTTTTTTTTTTTTGACACGGAGCCTTGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAACTGGTCTCCAACTCCTGAGCTCATGATCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCATCGCGCCCGGCTGAGCTTGAGGTTTTTATGGTCTTTTCTGGGTGACTTTGCAGTGGTCATATTATTACTCCTAGGTGGGGGAAGGTAGGGACTGTCCCTCATCACTGCTGTGCCTGCAGAGGACTCCTGACACCGGGATTGTCGGCAGGGTGCAACCAAGAGCAAAAGCACCCAGAAGTGGGGGTGTGGGTCACCAAGTAAGAGAGGAGGCCCCTCCATAAGGAAGGAGCAGGTCAAGGGGCAAGGGGAGTGGTGGCTGGGGCGTTTGGCCCTGCCTGGCATGCTCAATTCTGTGTGTGCACAGCTGTCCCCAGCCATGCATGCTCTCCATGGAAGTCAGGTGCAGCCCTGTGTTCTCTCACACTGCAGTCCTTTCAGCCAGCCTGTGAACAGGGCCCTTCCCCGCCCTGTCTTCAGTTTCTCCTCTCTGAAGGGGGGTGACCACCCACCTTGAGGGTGGCCTCCCAGTGAGGTGAGCACACCAAGGGTGGGCCAT 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Task1_train_28670 | Chromosome 22 houses a mutation in gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACG | AAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGCCTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACG 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Task1_train_28671 | This alteration in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Teebi hypertelorism syndrome 1 | TTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTA 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TTAGCCAGGCATGGTGGCACGCTCCTGTAATCCCAGCTACTTGGGAGGCCTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAAGGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTA 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Task1_train_28672 | Gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oculomaxillofacial dysostosis | CTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAG | CTAGGAAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCCGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAG 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Task1_train_28673 | Assess the clinical impact of this variant on gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Teebi hypertelorism syndrome 1 | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACG | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAAAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACG 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Task1_train_28674 | Here’s a variant in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Teebi hypertelorism syndrome | CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACG 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CGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAAAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACG 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Task1_train_28675 | The gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Teebi hypertelorism syndrome | CTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAGCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACGTT 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CTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGAAATCGCTCCACTGCACTATAGCCTGGGTGATGGTCAAGAGAGACTCCATCTCAAAAAAAACCAAAAAAACGAACAAAAAAAACTTCCTGTTCTTTTTGTATTAAACAAATGATTGTGTCAGTTTTCACAGGTTTAAAATTTTAGTAGTTAAGTAATCATGTGATTCACGTAGATTTGATTGACGCATCATCATTATTTAACATTAGTGCTTCGTTGTTTTTTACATTTAGAGAGACAGTATAACATACTGGTTAAGGTGCAAAATCTGGAACCAGACTGCCTGGGTTTCAATTTTGGCTCATCTATTTATTACCTGTGACATGTTGGCAAATTATTTAACATCTGTGTCTGAGTTTCTTCATCTGTAAAACAAGGTGATAATAGCACCTACCTCACGTCTTTAATGAGGCTTATATAAGTTAATGTATGTGAAGTGTTAATGTATTTGTATAACCAAGTGCTAGGTATGTGTTAGCTATTGTTATAATTGTTATTATTTATGTGGCATTTTATGGTGTTAAAACTATTTTGCATTTACTTTGGTCAGAGTAAAATTTTTGTGTTTCTAGTAGGTAGCTTAGATTTTTGGTTTTCCCAGAGACTGCTTTTCCCTTCTTGCCCACCTATGATCTCCCTTCACTATCTGTGTACAGTTAGTTTACCACCGACTGGCTAATCCTGGAGTCATCTTCACCTGTCTTGCCCTAGAATATTATGCCTCTGGCCAACTGGTTAAAACCCCACTTCTGGATTCAAGTTAATGTATATCATTTAAATAACAGCTTTGTAGAAATGTAATTCACATTCCATAAAATTTACTCTTTTAAAAACATGTAAAACAAAGTGTATAACTTATTTCTCCTTGATAATTAAAAGATGAATGATCTTCTGGTTTTGAAGAAATTGAACTTTAACAGACTCTAAGGCAAGATTATTGTAGATCTAAATCATTGTGTAGATCCTGGATTTCATCTCATTACACCTGGGGCAGGAACTGTGTATTCTATGTAGCCTTTTATTGCTGACATTTTTGCCTTACATTTTTTGTATTAAACACATAGGCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGTTCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCTGCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACAGAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCTTTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTACATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCTGAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAGTCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTGAAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAGAGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCTGGTAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGCTCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAACTCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGATGATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCCCGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATACACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGACCTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAAGAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGTCGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGATGAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAGAATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTGAAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGCAGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCCACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAGGCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGAGACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAGACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTACAGGATGCCATTGCTAAGGTATTGTTTAAATAGATTAAAATGTTCCGGACAGCATTAGGCAGCTGCCATGCACAGTGTTTACTGAGAACCTGGGTTACTGGTTTGGTTTGGTGTGTTATTAGCTTTTTTTTAAAACTGATATTTTTAAAACTTGGGAATGGTTTCCTTTTATTGGAATAGTGTGAAAAGTATTCTTAAGATAATGTCACTTTCTCTCACTTGTATTTTGTTTCTGTTTTCCTGCCTGTGAGAGGATATGGCTGGTATTACAGCTAAAACCAGAATTTGTCCCTAGTTCTGAGTATTCCTATGGAGCGGGTCATGAAATTTTACCTCCCCCCGCCTCATCTCGAATCTGTTTTGGTGTAATAGGTGGAGAGTCAGTATTCCAGTCTGTAGCATCAGCAGTGCATGTTTCCTCTTATCTTGCTATAGTAATAGTTTTTCAAATAGAGATCTGTTGATAGTTAAAAAATATTTTTGGCATATAGAGGCTCCTGTTTCTCAGAGGCCTGTGATTTATTGCTGGCAGGGACCTTAGCAATTATCAGTCCAGACCCTTGTTGTACATGCCTCCAGCATAATAGTGAGGACTCAGTTGGAACTGCTACCCAGGGCCACTGGCATTCTGGCCAGGGATCTATCTATACCCCATGTGGTTGCTGATGAACTGTTTATTTCCATGAGTTATTCTAGTTATACTAGTTATTCTAGCTTACATTTTATTTATTTGTTATTTTAGTGCAATGATTTTAAAATAAATTTTCATATATCTTTGGCTAAAATTTGAGTAATTTAGATTTTAGGGTGTTTTTAGTGATCACTTTTAAAGTTACAGTTTAGGAGATTTGTATTAGTTCTTGGCACATACATGTTGAGAGGCTACTGTGAACTAATACTTTTGTAAAAACACTATTTGAGAATTGTTTTCCCTTTTTCAGTTTGATACTGGAACCGTCACAAATATGACATCATTTTTGTTAGGACAACATGTTAATCATTAAACAAACGTACATGCTTTCAGTCCAAAGTTAGGAGAAACGAAAATTTCCAAAGTTTCCTTGTAAATAATCAGGTTAAGTTCAATGATACATCAATATAATTTCAGTCAGTGTTACAGCAACAGTTTAAGTGTATTAGATAAAATCTTACCATGGAGTGCTTTTTCATACTTTTTAACAGTTATTACACAGGTTGTTTTAGTTTATCCATAGTGCCTCATACTTAGCTCCCCTTGGAAACTGTGTGTACCTCAATTCTGGAACGTACCTTAGAACAACTCTTAACTTTTCTAAATCTGCATCGTCAATTTTACGTAGGTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAACAAATTGAAGATTTGAATATGACGTT 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Task1_train_28676 | Chromosome 22 houses a mutation in gene SPECC1L-ADORA2A, SPECC1L (SPECC1L-ADORA2A readthrough (NMD candidate)| sperm antigen with calponin homology and coiled-coil domains 1 like). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; SPECC1L-related syndrome | AGCATAGGTTTGTTGTGGCACCAGGTAGAGGTGAGTGTCGTCCTTCAGATGCATCTGTCCCAGGCAGTTGTGGAGGCCACGTGACTTTCTCTGTGCCTTGTTCATGCACTGCAGTGACACAGTTTCTTTTACAGAGAAGGAACTTCATGCTGGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCCTTGTCCCCCTGAGTCACTGGCAGGGCCCTCCTTCTGGTTAAGAAGAGTTCAGTCCTGTTTAAGCTGAATCCTCGTGGGCATGGGGTAGTGTGGCTGCCTGGTAAAAGGCAGCTATGGGGTGCTCTGGGGCCAAGGGAGGGTCCCGTCAAGGGTGGGTGCAGATGTGGGATCTTGTGTCCTGGCCCCCAGCACTTTTATCTCACGTGAAACACCCTAAGGATGCCCCCTGAAAGGGTGGGAGGCCTGAGACCATGGGCCCAGCCAACCTTCCCTGGGACGGCTCTTTGCAGTCATCTCTTCCATAAGGGAGTCCCTCAGGTTAAAAGAAAAATGTCATATGTTTATAAATCTCGCTGTCAAAAACACCACACCAGCAGGTCCATCTGCCTTGTTCATCTAGAGCGAGAGGGCAAGGCAGCTCTCAGCCAAGGCAGGCGGCTTTAGAGGCTGGACCGGGGAGGCTCCTGCACTTCCTCGTGATGGTGTGGGTAGCCGCCACTCACAGGACAGAAGTGTGGAAACCCGGCGTGTTCTCAGGTTCTTTAGGCCTCTCACGCTTCTACCTTGCCGAGCCCAACTTTCCGGGAGAAAACATAGCGTCCAAATCCAAAGCCAAAACTTCTACACCCAGAGACGCTTTTATTAAGTGAACTGAGTGCCGCAGCCTCACATGGGACACACAGACCATCGGGATTTTCAGAAAGGGCGGAGAGCCCACAGGCCAGTCCAAGCCCCAAACAGTCCTAGATCTGGGGCCCTCCAGGGTCACCTCCCCATCCCCGTGCCCCCAGCCTAACTTGTAGCAGCTGGAGGTGCTGTGAAGAAGTGTTTACGCCCATGTTCACTCATTAGAGTCTTCATGCCACAGGTGCATCTAAATCCCTAGAAATGTGCATTTTTTAGGGTGGCCTCTGTTCACCTGTACAGGGAAAAATAAGTTAAATATTCCCCCATTCCTGGATATTTTACAACACGTGTAAAGTTCCAATATATAAAAAAAGCAGGCCTTTTTCCCACCCTCAAAAGCTTCTATAGTCAAGATTCTTGCATTGAACAGGCAGGTTTTCGTTTTCTGCATCAAGTCACCAAGGGCGCCCTCCTGATCCTGCGTGCTCAGCCACACGTCCTGTGCTCGTCACCCATGGGAAGGGAAGGATCTCTCAGGCCGGCCCCTTGGGTCACTCCCCGAGCCTTCAGCAGCAGCAGTGTGTCACTTTTTGAGGCCTTCTGTCTCGTGTTAAAGGCTGTGAGACACTGGAGTGAGGTGGGGGTGGGTCCACGGTTTCCCAAGTTTATTTTCCTAGAACATCAGTTCACCGGTCACAGGTCACTGGCGTTCAGCAGAGCACAGTTACAGAGCAGAGTCTTGGATGATTTCAGACTGTTGCCCATGGTGAAGGCCGTCAGAGTGTTGGTTCTGGGAGCCCCCGACAGAGAGAAATTCTCCTAGGCCAGTGCCTGGGGCTGAGAAGGGCTCTCAGAAGGGTCCCCCAAGGAGTGGTTTAAGAAGAGAGGCAGGCGCGGGGAGGAGGGAGGAAGTTCCTCCGCCCAGACTGGATGAAACCCTTCCCATCCTGCAGAGCCGTGAGCAGGGAGGCACCTTGCCTGTGGCTCTGGGGCAGGGGTGGATGGCCTGGGGACGATGCTGATGCCCAGGGAGGAAGCATTCTTGGCCAGGCTTTAAAAATGTGTAATTAGGCCTAGAAAATATTTCAAGGCCCCATCCAACTCCAAGAGCCCATGTTGCTATGGCAGAGCCCATTGGCACAGCCTGGAGGTGACCTGCAGTTCTAACCAAGCGTCTTCCTTGTCTGTCAGGACATTAATGAAATGGTACGGACTGAACGACCCGACTGGCAGAACGTGATGCTGTATGTGACGGCGATCTACAAGTACTTTGAGACCTGAGCATGCCGGGAGGAGCCGCCCCAATAGCGGGGGTACCCCTCCACAGCGACCGAGCGACACCGACGCCATTAGCTACGCACCCCTGTAAAGCTTCCAGCAACTCTGGGCTGCCCCACAGCGTGTGAGCCTCCAGCTCGGGGCTTCCGTATTGGAAGAACTCAGCCGTGTGGCCCACAGCTCCCACCAGGGCCCCTCCCACATGACCCGTCCATTCAGGTCATGTGGGCTCAGCACACATCCTGCAGGCCGGTGGCTGCTGGAGTTTTCCTTCTGAAGAGAATATTGAACTACACTAGTGCTCCAGGGCACCAAACAAAAAGGGCTCATGCACAGCTGAATTTGGGAAAAGGGATTCAGTTCTGTGGGAAACTCACTAGGGTTGATGAAGGCTCGGCCGCGGCACTTCCTGACTATTGGCTGGGGTGGGTTCCGGTGCTGGTGAGAACCCAGAAGGAGAGTCAGCGCCTGGCAGTTCCCAGCGCCCTGGGCCCTTCACCGTCCTAGTTTGGAGGAGCATGTTCACCACAGACGTGGGTCAGCTGCCCCACACCTGACGGGGCTGTCCCGGCCGACACAATCCAGGCGTGTTCAGCCTGAGCTAGGAGAGTATCTAGAGGGCGTGGTGCGGGCACGCCAGGGCTGGGGTGCTGCTGCTGCACTCACGCGGCTGGGCTTTCTGGCGGGAAGCAGTTACGGGGGCCCCTTGCCTGGACTCAGCGACCTGTCTTCCAGCCTGGAAGGGGTTTGGAGTCCCAGCTCTGGCTTTAGATTTCTTCATCATAAGGAGTTTTTCTAGTTAACATTTTTGTTTTGTTACGAGCAATGCTGGAAAAGGTCGCTCCTGTTCTGTTAGTACCAAAGTTACATTGTTTCAATAAGCATAGAAATCTAAACAACATCTGTACATTAGCATGGTGAGAGCAAGGAATAAAGCAGGAAATAGGAGAAAAGTAAACAACTTTAGGGAGCCCAGGCAGTGTCATTTAAACTCACTGAGTCACTAAGACATAATTCTCCTAGGCCAGAGTTAAAGAAAGTGCCTTAACTCTTCTTGTGAGGGCAGCCACTGCCCTCCGTGGCCAAGGCAGGACCTCCAAGACTCAGTGGTTGAGTTGTCTCCTACCACCATGCCCGCCCTCCCCAGGTACTGGGTCCATGCCCCCTGTGCCCACCCTCCCCAGGTGCTGGGTCCATGCTGTTTGAACCAAAGCCTTATTTAAAGGTGGTCACTGGAGATGCTCTCAGGCCAGAACTCAACAGCTATTTTTGGGAATAGGGATCTCCCGTGTGCCTAACGCAGTAGCTATTGGTTTGAACAATGTCCAGACAAGACCTGTACCTTTGAGAATATAACTGTGTTTGGCACCTGCATAGCACCATGAGGAAGACCAGCCACCAGTGGAAGCGGGGTCACTGCCCCACAGACTGGATGCAATGAGGGGCTCACAGGAGGCCCAGCCAGCCCGATTGTGGGCTGAGGGGTCTGCATTCAAGCACGATGTTCTAGAATAGGAGTTTAACGTGTCTACGTAACCTAGAATGTGGTTATTAGGAAAGGGGCTGTGCATGTGGGTGCAGCTGGCGGCACACCTGGTCACCAGATGGCCAGAAGCTGCCCATCAGCCCTGCCCAGATGTCAGCCTGGGAGCTCAGGCTGCTGCCGCTGGCTGGATGCCCTTTGGTGAAATGCCTGTTTTCAGCTAAGAAAGGAGAGGCCAGGCAAGCAAAGTCATGCCACAAAGCATATCAGAGACCCCCGCAGACTCCTGGCCCCGTCCCGCCCCCTGTCTGAGTTGTGTTTTTGTTGCTGTTCCTCTGTTGATGGCCAGCTCTGCTGTTGGCATGAGCCACTGATGTTCATGTGAGAATTACTGTTTTTAAGTGTCTCTCCACTTAGGTGTCCTCAGTTCCCACTTTTGCTCTCATTTGCCTTCACAGAGGCCACTCCACCTGTCCGGATCCAGCTGTCTGGTCATGGTTTGGTTT 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AGCATAGGTTTGTTGTGGCACCAGGTAGAGGTGAGTGTCGTCCTTCAGATGCATCTGTCCCAGGCAGTTGTGGAGGCCACGTGACTTTCTCTGTGCCTTGTTCATGCACTGCAGTGACACAGTTTCTTTTACAGAGAAGGAACTTCATGCTGGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCCTTGTCCCCCTGAGTCACTGGCAGGGCCCTCCTTCTGGTTAAGAAGAGTTCAGTCCTGTTTAAGCTGAATCCTCGTGGGCATGGGGTAGTGTGGCTGCCTGGTAAAAGGCAGCTATGGGGTGCTCTGGGGCCAAGGGAGGGTCCCGTCAAGGGTGGGTGCAGATGTGGGATCTTGTGTCCTGGCCCCCAGCACTTTTATCTCACGTGAAACACCCTAAGGATGCCCCCTGAAAGGGTGGGAGGCCTGAGACCATGGGCCCAGCCAACCTTCCCTGGGACGGCTCTTTGCAGTCATCTCTTCCATAAGGGAGTCCCTCAGGTTAAAAGAAAAATGTCATATGTTTATAAATCTCGCTGTCAAAAACACCACACCAGCAGGTCCATCTGCCTTGTTCATCTAGAGCGAGAGGGCAAGGCAGCTCTCAGCCAAGGCAGGCGGCTTTAGAGGCTGGACCGGGGAGGCTCCTGCACTTCCTCGTGATGGTGTGGGTAGCCGCCACTCACAGGACAGAAGTGTGGAAACCCGGCGTGTTCTCAGGTTCTTTAGGCCTCTCACGCTTCTACCTTGCCGAGCCCAACTTTCCGGGAGAAAACATAGCGTCCAAATCCAAAGCCAAAACTTCTACACCCAGAGACGCTTTTATTAAGTGAACTGAGTGCCGCAGCCTCACATGGGACACACAGACCATCGGGATTTTCAGAAAGGGCGGAGAGCCCACAGGCCAGTCCAAGCCCCAAACAGTCCTAGATCTGGGGCCCTCCAGGGTCACCTCCCCATCCCCGTGCCCCCAGCCTAACTTGTAGCAGCTGGAGGTGCTGTGAAGAAGTGTTTACGCCCATGTTCACTCATTAGAGTCTTCATGCCACAGGTGCATCTAAATCCCTAGAAATGTGCATTTTTTAGGGTGGCCTCTGTTCACCTGTACAGGGAAAAATAAGTTAAATATTCCCCCATTCCTGGATATTTTACAACACGTGTAAAGTTCCAATATATAAAAAAAGCAGGCCTTTTTCCCACCCTCAAAAGCTTCTATAGTCAAGATTCTTGCATTGAACAGGCAGGTTTTCGTTTTCTGCATCAAGTCACCAAGGGCGCCCTCCTGATCCTGCGTGCTCAGCCACACGTCCTGTGCTCGTCACCCATGGGAAGGGAAGGATCTCTCAGGCCGGCCCCTTGGGTCACTCCCCGAGCCTTCAGCAGCAGCAGTGTGTCACTTTTTGAGGCCTTCTGTCTCGTGTTAAAGGCTGTGAGACACTGGAGTGAGGTGGGGGTGGGTCCACGGTTTCCCAAGTTTATTTTCCTAGAACATCAGTTCACCGGTCACAGGTCACTGGCGTTCAGCAGAGCACAGTTACAGAGCAGAGTCTTGGATGATTTCAGACTGTTGCCCATGGTGAAGGCCGTCAGAGTGTTGGTTCTGGGAGCCCCCGACAGAGAGAAATTCTCCTAGGCCAGTGCCTGGGGCTGAGAAGGGCTCTCAGAAGGGTCCCCCAAGGAGTGGTTTAAGAAGAGAGGCAGGCGCGGGGAGGAGGGAGGAAGTTCCTCCGCCCAGACTGGATGAAACCCTTCCCATCCTGCAGAGCCGTGAGCAGGGAGGCACCTTGCCTGTGGCTCTGGGGCAGGGGTGGATGGCCTGGGGACGATGCTGATGCCCAGGGAGGAAGCATTCTTGGCCAGGCTTTAAAAATGTGTAATTAGGCCTAGAAAATATTTCAAGGCCCCATCCAACTCCAAGAGCCCATGTTGCTATGGCAGAGCCCATTGGCACAGCCTGGAGGTGACCTGCAGTTCTAACCAAGCGTCTTCCTTGTCTGTCAGGACATTAATGAAATGGTACGGACTGAACAACCCGACTGGCAGAACGTGATGCTGTATGTGACGGCGATCTACAAGTACTTTGAGACCTGAGCATGCCGGGAGGAGCCGCCCCAATAGCGGGGGTACCCCTCCACAGCGACCGAGCGACACCGACGCCATTAGCTACGCACCCCTGTAAAGCTTCCAGCAACTCTGGGCTGCCCCACAGCGTGTGAGCCTCCAGCTCGGGGCTTCCGTATTGGAAGAACTCAGCCGTGTGGCCCACAGCTCCCACCAGGGCCCCTCCCACATGACCCGTCCATTCAGGTCATGTGGGCTCAGCACACATCCTGCAGGCCGGTGGCTGCTGGAGTTTTCCTTCTGAAGAGAATATTGAACTACACTAGTGCTCCAGGGCACCAAACAAAAAGGGCTCATGCACAGCTGAATTTGGGAAAAGGGATTCAGTTCTGTGGGAAACTCACTAGGGTTGATGAAGGCTCGGCCGCGGCACTTCCTGACTATTGGCTGGGGTGGGTTCCGGTGCTGGTGAGAACCCAGAAGGAGAGTCAGCGCCTGGCAGTTCCCAGCGCCCTGGGCCCTTCACCGTCCTAGTTTGGAGGAGCATGTTCACCACAGACGTGGGTCAGCTGCCCCACACCTGACGGGGCTGTCCCGGCCGACACAATCCAGGCGTGTTCAGCCTGAGCTAGGAGAGTATCTAGAGGGCGTGGTGCGGGCACGCCAGGGCTGGGGTGCTGCTGCTGCACTCACGCGGCTGGGCTTTCTGGCGGGAAGCAGTTACGGGGGCCCCTTGCCTGGACTCAGCGACCTGTCTTCCAGCCTGGAAGGGGTTTGGAGTCCCAGCTCTGGCTTTAGATTTCTTCATCATAAGGAGTTTTTCTAGTTAACATTTTTGTTTTGTTACGAGCAATGCTGGAAAAGGTCGCTCCTGTTCTGTTAGTACCAAAGTTACATTGTTTCAATAAGCATAGAAATCTAAACAACATCTGTACATTAGCATGGTGAGAGCAAGGAATAAAGCAGGAAATAGGAGAAAAGTAAACAACTTTAGGGAGCCCAGGCAGTGTCATTTAAACTCACTGAGTCACTAAGACATAATTCTCCTAGGCCAGAGTTAAAGAAAGTGCCTTAACTCTTCTTGTGAGGGCAGCCACTGCCCTCCGTGGCCAAGGCAGGACCTCCAAGACTCAGTGGTTGAGTTGTCTCCTACCACCATGCCCGCCCTCCCCAGGTACTGGGTCCATGCCCCCTGTGCCCACCCTCCCCAGGTGCTGGGTCCATGCTGTTTGAACCAAAGCCTTATTTAAAGGTGGTCACTGGAGATGCTCTCAGGCCAGAACTCAACAGCTATTTTTGGGAATAGGGATCTCCCGTGTGCCTAACGCAGTAGCTATTGGTTTGAACAATGTCCAGACAAGACCTGTACCTTTGAGAATATAACTGTGTTTGGCACCTGCATAGCACCATGAGGAAGACCAGCCACCAGTGGAAGCGGGGTCACTGCCCCACAGACTGGATGCAATGAGGGGCTCACAGGAGGCCCAGCCAGCCCGATTGTGGGCTGAGGGGTCTGCATTCAAGCACGATGTTCTAGAATAGGAGTTTAACGTGTCTACGTAACCTAGAATGTGGTTATTAGGAAAGGGGCTGTGCATGTGGGTGCAGCTGGCGGCACACCTGGTCACCAGATGGCCAGAAGCTGCCCATCAGCCCTGCCCAGATGTCAGCCTGGGAGCTCAGGCTGCTGCCGCTGGCTGGATGCCCTTTGGTGAAATGCCTGTTTTCAGCTAAGAAAGGAGAGGCCAGGCAAGCAAAGTCATGCCACAAAGCATATCAGAGACCCCCGCAGACTCCTGGCCCCGTCCCGCCCCCTGTCTGAGTTGTGTTTTTGTTGCTGTTCCTCTGTTGATGGCCAGCTCTGCTGTTGGCATGAGCCACTGATGTTCATGTGAGAATTACTGTTTTTAAGTGTCTCTCCACTTAGGTGTCCTCAGTTCCCACTTTTGCTCTCATTTGCCTTCACAGAGGCCACTCCACCTGTCCGGATCCAGCTGTCTGGTCATGGTTTGGTTT 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Task1_train_28677 | A mutation found in UPB1 (beta-ureidopropionase 1) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Deficiency of beta-ureidopropionase | GAACCAGTCTGTGCCCAGTTTCTTTCTCTTCTCTCAGATTATGAACTCCCCAAAGGCACCATCCAGGTTTTTACCCCGCTTGTCAAATTCCCCTCTGGCCCAGGGCTGGCTGCTCAGCAGGAGTGTTTAATAAGCACTTAATTGCCCGGTGAGTACAGACCATTCCAGCTCACCTTAACTGTTTCCTGGCTGACTCGCCTCTCGGCCTGATTGCCCTGCTCATCTGGCTGAGTGAGCTGGAATGAGTGTAGTGGTAGTGCCACCTATAGGTTCCTCTTACCTTGGTCTTATTTCACAGGAGCACTTCCCGAACGAGTTTACCTCGGGAGATGGAAAGAAAGGTATGTCCCATGAACCATGGTGGCTGCAGTTGAGGAGTGGGCCTTCCTCTCCCCTTCTCTGTCTGCTTCCTCCAGTCAGGATCTGCCACACAGATCACATCTGCATGCCTGGCACCTAGGAGGAGGCGCCAATTCCTCTCTGCTTTATTGCCTGCAGTGTGGGAATCGGGCTGTGGCTGGGGTGTGGATAGGCAGTCCTGAGCTTGAGGAGTGGGTTGGACTCCATCCATTCCCCGGGACTGGTGTGAAGATGAACCAAGAGGATGTGGGGGATCCTCTGTGAGCTCTCTGAAAGGGAGAGGTGCTCTCATCCAGCCCATAGATCTCCCTTTCCACTTTCCTTTGTCCTTGTCCCCCCTCCCCTTGCCCAAACCAGCTGTACTGATGCCACAGGGCATTGGCATGGATGGCCCTGGGTTTCTAGAGTCCATGGCTTGTTTTGATCCAAGGGCATATACCACCTCACCTCTGCTAAGAACCCTAAAGACTCCTTTCCCATGTCTCTGGCCAAGAATGAGGGAGGTAGGGACTGCCCCCCTCACCAAGGAGGTATCTGAACCTTGGTGAGGTAGCTTGGACACTTGGAGGTAGCTCAGAGTGTCCTCTAGAAAGCCAGGAGGAGGCCAGGCATGGTGTCTCATGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGGCCAGCCTGACCAACATGGAGAAACCCAGTCTCTACTAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCCCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGACATCGCACCATTGCACTCCAGCCTGGGCAACAGGAGGGAAATGCCACCTAAAAAAAAAAAAAAAAAAAAAAAATGCCAGAAGGGGCTGAGCGAGTCTGTTTTCCAGGAAAACACTTCCTGAAAGGGTCCCAGATGCCGCCATTTCAGGTCCCCCGACTTCTAGAGTCCCTGATCCTAGTTAACTTACTGCAAATAGAGATGCAGAAAGGGCAGGGGAATGAGCGTCCACTGGGTGCCTGCTGCATCTGGGCCATGCTAGGCCCTGCCCAGCCCCACCTGCTCCTTACACATGTGTGGGGTGGCTGCTAGTCCTCCCTGACTGGTGAAGGGACCAAGGCCTGGAGGGAGGATAAGGGTGACGCAGCTGGCAAGGCAGATGAAGGCAGAGCCTCCAGCTCACTGTGAGGGCCCCCATAGGAAGCCCCCAGAGTGTGACTTTCTGTTTTCCTTAGGCTGTGGGTAGAAGTGACACCTCTCAGAAGGGTGACATTTAGACATTTCCCCAGGGGCAAAGGGAAGCAGCATAAGGGGGCCATTTGCAGCAATTTGCTGGGCCTTCAGGCCTGAGATGAGAGACAGGCCTTTTGGGCCTCAGCATTTGGCAGACACTGGGGAGGATGGCATGGACTCCGTGTCCTGGGCCTGCCTCAAGGTGCCTGACCCTCTGTGGAGCCCACAGTGCATCTACACAAGCTCACAGATGTGTTTCTTTGTTCCTTTAAAGCTCACCAGGACTTTGGCTACTTTTATGGCTCGAGCTATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCGTAGCCGGGATGGACTGCTAGTTGCTAAGCTCGACCTAAACCTCTGCCAGCAGGTGAATGATGTCTGGAACTTCAAGGTAGGTCCCCAGGACCCCTGTTGTTGCCTGCTCCTCTGCTTTGGCCCTCATCCTGCTCTCAGGAACTGCTGTTGCGGGGTTGCCCATGGCAGCATGAGGTACCAGCTCCCACCTGAGGGCTCTGTGTGAGCTGAGGGCTGAATCTCTGCCTCCTTGCTGGCTCCCGGGAGGAACAGTTGGGTCAAACAATGTACAAGCAGCAGGCTGCAATAAATTCTCCTCTCATCTGATTTAGATTCTGGGTGCCTTCAGACAAATTAATCTCAATTTCATTTGTCCAGAGAATAGAATGGATTGGCTCCTCTAATCCTTTTTCCTTTCCAGGCATTTGCACTTATCACAAGATAAATATGCATGTCTGGTTCTGCTTGTGGCCAGTCCCTGCAGTCTAGGCCTTGACGATAGCAGGAAATGGGTCATGCAGAGAAATGGAATCTAGGCCTGGCTCTGCCACAGCCTTCCTTCCTTGGTCACCTTAATTAAGCCCCTTGTGCTCCCAAGCCTTAGTACTCCCAGTTGTAAAATACGGGGCTTAACTCGAAGGTCCCATGCTGGCTTTGACACCTAATGCCCTGTGATGTCAGGAGTCAGAGGAATGGAGATGTCTGCCCTCCTGGGATGGGACTCCACCCTAGAAAGGCTCACAGCTTCAGAGTTTGCTGTATTAGTGTCCGAAAGTATTTCCACCAACTCAGCACCCCTTTTTCTTTTTTGGTGGAGTAGGGGGCATGGAGACAAGGTCTTGGCTCTGTCATCTAGGCTGGACCAATGGCACAGCCATAGATCATGGCAGCCTTGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAACTGGGACTATAGGCGTGCACCACCACCACACCCAGCTAATTTTTAAAATTTTTTATAGAGACCGAGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCAATCCTCGCACCTCGGGCTCCCAAAATACCAGGATTATAGACATAAGCCACTGTGCCCTGCCTCAGCAACCTTTTATAAGCAAATTGTATATGCAAATGTCCATTGTTATAACTGACTTTGCCCGGTGTGACTAAAAGACCACCAGGGCCTCTAATCCACCCAGACATGGGCTTTTGGCCTTGATCCTGTTTTCTGAGCATGGGTTCCTCAGTCTCGGATCCTTGTCAGACAAACAAGGTATTGGGCATGAGAGAGTCTCCTGACCTCTCTCTCCTCTTCCTGGGCAACTAGGATGAATGTAGGATTCCACCCAAATCAGAAGGGAGCCAAGAATGCTGGCCAACTCTTTTTAATAAGTATCCCAGGAGCAGTAAACCAAATGTTTTCTCATTAGACACTTCTTAGAAGCAGAAGCCTTCCCAACTTTGGTAATGGGCCTGAGCTCCTGTCAAGGCTTTTGGGAGTAATCCACCTTGGGAAAGGAGGGAGGGAGGGAGGGTGTGCTGGGTGTGAGCACTGTGGGTGGGCTTTCCAACTCCACCAGCCTCTGTATCCACGATGAGATGCCACATGGAGTAGACAGAACTCCAGGCCCATCCAGGAGCCCCTGGTTCAAATCCCAGCCTTTTCTACAACTGGCTAGTGACCTGGAGCAGGTCACTCCTCTCTGGGCTGTAGGATGCTCTTCTGGGGAGCAACAGGACCACGGGACTCCCCTTCTCCATCCTGCCTCAGCAGACCACACTTTCTGGATAGACAGGTCGAAGGGGTCACAGCAGCCAATGCTGGGCTGTATGAGTCATTGTAGCATCTGTGAACTTTGCCACAGTACTAGAATCAGTGCCAAGAGGTCACTGTCAACGAGCCTTCCTGATGCGTTCCTGCCCCATGACTGCCCTCCAGTGGCAAGAGGTGGTGGCGTGTAAGTGATGGGGATTTATAAAACCAGAACCTCTAAAGTACATCTGTGTTTTGCTTTCAGATGACGGGCAGGTATGAGATGTACGCACGGGAGCTCGCCGAAGCTGTCAAGTCCAACTACAGCCCCACCATCG 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GAACCAGTCTGTGCCCAGTTTCTTTCTCTTCTCTCAGATTATGAACTCCCCAAAGGCACCATCCAGGTTTTTACCCCGCTTGTCAAATTCCCCTCTGGCCCAGGGCTGGCTGCTCAGCAGGAGTGTTTAATAAGCACTTAATTGCCCGGTGAGTACAGACCATTCCAGCTCACCTTAACTGTTTCCTGGCTGACTCGCCTCTCGGCCTGATTGCCCTGCTCATCTGGCTGAGTGAGCTGGAATGAGTGTAGTGGTAGTGCCACCTATAGGTTCCTCTTACCTTGGTCTTATTTCACAGGAGCACTTCCCGAACGAGTTTACCTCGGGAGATGGAAAGAAAGGTATGTCCCATGAACCATGGTGGCTGCAGTTGAGGAGTGGGCCTTCCTCTCCCCTTCTCTGTCTGCTTCCTCCAGTCAGGATCTGCCACACAGATCACATCTGCATGCCTGGCACCTAGGAGGAGGCGCCAATTCCTCTCTGCTTTATTGCCTGCAGTGTGGGAATCGGGCTGTGGCTGGGGTGTGGATAGGCAGTCCTGAGCTTGAGGAGTGGGTTGGACTCCATCCATTCCCCGGGACTGGTGTGAAGATGAACCAAGAGGATGTGGGGGATCCTCTGTGAGCTCTCTGAAAGGGAGAGGTGCTCTCATCCAGCCCATAGATCTCCCTTTCCACTTTCCTTTGTCCTTGTCCCCCCTCCCCTTGCCCAAACCAGCTGTACTGATGCCACAGGGCATTGGCATGGATGGCCCTGGGTTTCTAGAGTCCATGGCTTGTTTTGATCCAAGGGCATATACCACCTCACCTCTGCTAAGAACCCTAAAGACTCCTTTCCCATGTCTCTGGCCAAGAATGAGGGAGGTAGGGACTGCCCCCCTCACCAAGGAGGTATCTGAACCTTGGTGAGGTAGCTTGGACACTTGGAGGTAGCTCAGAGTGTCCTCTAGAAAGCCAGGAGGAGGCCAGGCATGGTGTCTCATGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGGCCAGCCTGACCAACATGGAGAAACCCAGTCTCTACTAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCCCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGACATCGCACCATTGCACTCCAGCCTGGGCAACAGGAGGGAAATGCCACCTAAAAAAAAAAAAAAAAAAAAAAAATGCCAGAAGGGGCTGAGCGAGTCTGTTTTCCAGGAAAACACTTCCTGAAAGGGTCCCAGATGCCGCCATTTCAGGTCCCCCGACTTCTAGAGTCCCTGATCCTAGTTAACTTACTGCAAATAGAGATGCAGAAAGGGCAGGGGAATGAGCGTCCACTGGGTGCCTGCTGCATCTGGGCCATGCTAGGCCCTGCCCAGCCCCACCTGCTCCTTACACATGTGTGGGGTGGCTGCTAGTCCTCCCTGACTGGTGAAGGGACCAAGGCCTGGAGGGAGGATAAGGGTGACGCAGCTGGCAAGGCAGATGAAGGCAGAGCCTCCAGCTCACTGTGAGGGCCCCCATAGGAAGCCCCCAGAGTGTGACTTTCTGTTTTCCTTAGGCTGTGGGTAGAAGTGACACCTCTCAGAAGGGTGACATTTAGACATTTCCCCAGGGGCAAAGGGAAGCAGCATAAGGGGGCCATTTGCAGCAATTTGCTGGGCCTTCAGGCCTGAGATGAGAGACAGGCCTTTTGGGCCTCAGCATTTGGCAGACACTGGGGAGGATGGCATGGACTCCGTGTCCTGGGCCTGCCTCAAGGTGCCTGACCCTCTGTGGAGCCCACAGTGCATCTACACAAGCTCACAGATGTGTTTCTTTGTTCCTTTAAAGCTCACCAGGACTTTGGCTACTTTTATGGCTCGAGCTATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCGTAGCCGGGATGGACTGCTAGTTGCTAAGCTCGACCTAATCCTCTGCCAGCAGGTGAATGATGTCTGGAACTTCAAGGTAGGTCCCCAGGACCCCTGTTGTTGCCTGCTCCTCTGCTTTGGCCCTCATCCTGCTCTCAGGAACTGCTGTTGCGGGGTTGCCCATGGCAGCATGAGGTACCAGCTCCCACCTGAGGGCTCTGTGTGAGCTGAGGGCTGAATCTCTGCCTCCTTGCTGGCTCCCGGGAGGAACAGTTGGGTCAAACAATGTACAAGCAGCAGGCTGCAATAAATTCTCCTCTCATCTGATTTAGATTCTGGGTGCCTTCAGACAAATTAATCTCAATTTCATTTGTCCAGAGAATAGAATGGATTGGCTCCTCTAATCCTTTTTCCTTTCCAGGCATTTGCACTTATCACAAGATAAATATGCATGTCTGGTTCTGCTTGTGGCCAGTCCCTGCAGTCTAGGCCTTGACGATAGCAGGAAATGGGTCATGCAGAGAAATGGAATCTAGGCCTGGCTCTGCCACAGCCTTCCTTCCTTGGTCACCTTAATTAAGCCCCTTGTGCTCCCAAGCCTTAGTACTCCCAGTTGTAAAATACGGGGCTTAACTCGAAGGTCCCATGCTGGCTTTGACACCTAATGCCCTGTGATGTCAGGAGTCAGAGGAATGGAGATGTCTGCCCTCCTGGGATGGGACTCCACCCTAGAAAGGCTCACAGCTTCAGAGTTTGCTGTATTAGTGTCCGAAAGTATTTCCACCAACTCAGCACCCCTTTTTCTTTTTTGGTGGAGTAGGGGGCATGGAGACAAGGTCTTGGCTCTGTCATCTAGGCTGGACCAATGGCACAGCCATAGATCATGGCAGCCTTGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAACTGGGACTATAGGCGTGCACCACCACCACACCCAGCTAATTTTTAAAATTTTTTATAGAGACCGAGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGCAATCCTCGCACCTCGGGCTCCCAAAATACCAGGATTATAGACATAAGCCACTGTGCCCTGCCTCAGCAACCTTTTATAAGCAAATTGTATATGCAAATGTCCATTGTTATAACTGACTTTGCCCGGTGTGACTAAAAGACCACCAGGGCCTCTAATCCACCCAGACATGGGCTTTTGGCCTTGATCCTGTTTTCTGAGCATGGGTTCCTCAGTCTCGGATCCTTGTCAGACAAACAAGGTATTGGGCATGAGAGAGTCTCCTGACCTCTCTCTCCTCTTCCTGGGCAACTAGGATGAATGTAGGATTCCACCCAAATCAGAAGGGAGCCAAGAATGCTGGCCAACTCTTTTTAATAAGTATCCCAGGAGCAGTAAACCAAATGTTTTCTCATTAGACACTTCTTAGAAGCAGAAGCCTTCCCAACTTTGGTAATGGGCCTGAGCTCCTGTCAAGGCTTTTGGGAGTAATCCACCTTGGGAAAGGAGGGAGGGAGGGAGGGTGTGCTGGGTGTGAGCACTGTGGGTGGGCTTTCCAACTCCACCAGCCTCTGTATCCACGATGAGATGCCACATGGAGTAGACAGAACTCCAGGCCCATCCAGGAGCCCCTGGTTCAAATCCCAGCCTTTTCTACAACTGGCTAGTGACCTGGAGCAGGTCACTCCTCTCTGGGCTGTAGGATGCTCTTCTGGGGAGCAACAGGACCACGGGACTCCCCTTCTCCATCCTGCCTCAGCAGACCACACTTTCTGGATAGACAGGTCGAAGGGGTCACAGCAGCCAATGCTGGGCTGTATGAGTCATTGTAGCATCTGTGAACTTTGCCACAGTACTAGAATCAGTGCCAAGAGGTCACTGTCAACGAGCCTTCCTGATGCGTTCCTGCCCCATGACTGCCCTCCAGTGGCAAGAGGTGGTGGCGTGTAAGTGATGGGGATTTATAAAACCAGAACCTCTAAAGTACATCTGTGTTTTGCTTTCAGATGACGGGCAGGTATGAGATGTACGCACGGGAGCTCGCCGAAGCTGTCAAGTCCAACTACAGCCCCACCATCG 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Task1_train_28678 | This variant impacts the gene CRYBB3 (crystallin beta B3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Microphthalmia | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCCAGGAATTAGCAGTAGGGTTGGAGGGAGGGTACAAGGTTCAAGGTCAGCAGCTCTTGGACACTTCTCTCACTAAACTTGAATCCTTCCTCAGCTGCAGCAAAGGTGACCCAGCCAAGCCTCTTCCTCCCTCAGGTGGCTGGCATTTGAGTCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGGCCTCTGAATATTGTGAGTGTGGTTCCTGCTCACTTCTGGGTGTTCCTGGAAGCAGGGTGCACTGAGAGCTGGTCAGGCAGCTCATTGCACAAGCTGGGCTGAGGGTTTGGCCCATATGGACCTGGCCTGGGAAGGGCCCTCATGTTTCTGATTTGAACAATTGTGTGGGACAAGAAGTGGGATATTGAAGGGACATTCGGTTGGGGATTGAGACACCAGGACTCACATCTTGAATTAAACCAGCATAGCACTGGGACTTTTCTTTGTAACCGTACTAAAACGATGAGCCACATGGCCCAGTCTCAAATCAGTATTGTTATCAAAGAAATGCAGTCCAGGAAATAACTTCAGAAAGTAGCCAAAATACTTTAAGTTCTCCACTTGTGTTTTTCTAGCACCTGAAAGGGACACAGTCCACAGTGACACTTTTTATTTATTTGTTTATTTATTTATTTTTCGAGACAGACTCCTGCTCTGTCACCCATGCTGGAGTGCAGTCTTTCTCTCTCTCTCTTTTTAAACATTTTTATTTATGTATTTTTATTTCATTTTGAGTTGCAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGAAGGCACATGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGTGGCGTTTTGCCATGTTGGCAAAGCTGGTCTTGAACTTCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCCTGAGCCACCACGCCCGGCCCACAGTGACACTTTAAACACCACCCTTCTCCCTCCCCTGCTTCACTCACACCCCGCAGCTGCTCCAGCCCTTTCTCTTTGTCACATAACTGAGTCCTCCTTAGAGGGCAGTGGAAGAGGGGAAACTGGGAAGATTAAACCGGCATCTGGTTAGGAAAGAGGGAAAGCTCATATGTTGATACTTTTGATCTCTGTCCACCCTCTCCTGGCCTCAGTTTCTCTATCATTTAAATGATGGGATTGAACAAGATCTGGAAATTCCTTTTCAGTTTTATAATCTACGGCTCTAGGTTCCTAAATCAACCAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACC | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCCAGGAATTAGCAGTAGGGTTGGAGGGAGGGTACAAGGTTCAAGGTCAGCAGCTCTTGGACACTTCTCTCACTAAACTTGAATCCTTCCTCAGCTGCAGCAAAGGTGACCCAGCCAAGCCTCTTCCTCCCTCAGGTGGCTGGCATTTGAGTCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGGCCTCTGAATATTGTGAGTGTGGTTCCTGCTCACTTCTGGGTGTTCCTGGAAGCAGGGTGCACTGAGAGCTGGTCAGGCAGCTCATTGCACAAGCTGGGCTGAGGGTTTGGCCCATATGGACCTGGCCTGGGAAGGGCCCTCATGTTTCTGATTTGAACAATTGTGTGGGACAAGAAGTGGGATATTGAAGGGACATTCGGTTGGGGATTGAGACACCAGGACTCACATCTTGAATTAAACCAGCATAGCACTGGGACTTTTCTTTGTAACCGTACTAAAACGATGAGCCACATGGCCCAGTCTCAAATCAGTATTGTTATCAAAGAAATGCAGTCCAGGAAATAACTTCAGAAAGTAGCCAAAATACTTTAAGTTCTCCACTTGTGTTTTTCTAGCACCTGAAAGGGACACAGTCCACAGTGACACTTTTTATTTATTTGTTTATTTATTTATTTTTCGAGACAGACTCCTGCTCTGTCACCCATGCTGGAGTGCAGTCTTTCTCTCTCTCTCTTTTTAAACATTTTTATTTATGTATTTTTATTTCATTTTGAGTTGCAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGAAGGCACATGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGTGGCGTTTTGCCATGTTGGCAAAGCTGGTCTTGAACTTCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCCTGAGCCACCACGCCCGGCCCACAGTGACACTTTAAACACCACCCTTCTCCCTCCCCTGCTTCACTCACACCCCGCAGCTGCTCCAGCCCTTTCTCTTTGTCACATAACTGAGTCCTCCTTAGAGGGCAGTGGAAGAGGGGAAACTGGGAAGATTAAACCGGCATCTGGTTAGGAAAGAGGGAAAGCTCATATGTTGATACTTTTGATCTCTGTCCACCCTCTCCTGGCCTCAGTTTCTCTATCATTTAAATGATGGGATTGAACAAGATCTGGAAATTCCTTTTCAGTTTTATAATCTACGGCTCTAGGTTCCTAAATCAACCAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGAGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACC 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Task1_train_28679 | This variant lies on Chromosome 22 and affects the gene CRYBB3 (crystallin beta B3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cataract | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCCAGGAATTAGCAGTAGGGTTGGAGGGAGGGTACAAGGTTCAAGGTCAGCAGCTCTTGGACACTTCTCTCACTAAACTTGAATCCTTCCTCAGCTGCAGCAAAGGTGACCCAGCCAAGCCTCTTCCTCCCTCAGGTGGCTGGCATTTGAGTCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGGCCTCTGAATATTGTGAGTGTGGTTCCTGCTCACTTCTGGGTGTTCCTGGAAGCAGGGTGCACTGAGAGCTGGTCAGGCAGCTCATTGCACAAGCTGGGCTGAGGGTTTGGCCCATATGGACCTGGCCTGGGAAGGGCCCTCATGTTTCTGATTTGAACAATTGTGTGGGACAAGAAGTGGGATATTGAAGGGACATTCGGTTGGGGATTGAGACACCAGGACTCACATCTTGAATTAAACCAGCATAGCACTGGGACTTTTCTTTGTAACCGTACTAAAACGATGAGCCACATGGCCCAGTCTCAAATCAGTATTGTTATCAAAGAAATGCAGTCCAGGAAATAACTTCAGAAAGTAGCCAAAATACTTTAAGTTCTCCACTTGTGTTTTTCTAGCACCTGAAAGGGACACAGTCCACAGTGACACTTTTTATTTATTTGTTTATTTATTTATTTTTCGAGACAGACTCCTGCTCTGTCACCCATGCTGGAGTGCAGTCTTTCTCTCTCTCTCTTTTTAAACATTTTTATTTATGTATTTTTATTTCATTTTGAGTTGCAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGAAGGCACATGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGTGGCGTTTTGCCATGTTGGCAAAGCTGGTCTTGAACTTCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCCTGAGCCACCACGCCCGGCCCACAGTGACACTTTAAACACCACCCTTCTCCCTCCCCTGCTTCACTCACACCCCGCAGCTGCTCCAGCCCTTTCTCTTTGTCACATAACTGAGTCCTCCTTAGAGGGCAGTGGAAGAGGGGAAACTGGGAAGATTAAACCGGCATCTGGTTAGGAAAGAGGGAAAGCTCATATGTTGATACTTTTGATCTCTGTCCACCCTCTCCTGGCCTCAGTTTCTCTATCATTTAAATGATGGGATTGAACAAGATCTGGAAATTCCTTTTCAGTTTTATAATCTACGGCTCTAGGTTCCTAAATCAACCAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACC | CACACCAGGCCTCTGTTTTCTCATCTGTTGAATGGGGATAACAATGGTACGTACTTCAGAGAGAGTTTTTATGAAAATGAATGGAATGATGCAAATAAATACATATTAATAACAATACAATACAAAGAAGAGGAAAAGGAAGAGGAAGAAGTCACTGTCACCTATGGAATACTTACTGTGTACCGGGCATTGTGCTAAAGACTTTTCTGGGTACCTTGCACAGAGGCTAGATTCTCAATAACATACCCTAGGATGGTTTTCTGGCCCAGAGTCTCAGACAGTTCCCGGTATGTCCTAGCAGCTCCTTTAATTACAGGTCCAGGAATTAGCAGTAGGGTTGGAGGGAGGGTACAAGGTTCAAGGTCAGCAGCTCTTGGACACTTCTCTCACTAAACTTGAATCCTTCCTCAGCTGCAGCAAAGGTGACCCAGCCAAGCCTCTTCCTCCCTCAGGTGGCTGGCATTTGAGTCCAGGGCCTTCCGCGGGGAGCAGTTTGTTCTGGAGAAGGGGGATTATCCTCGCTGGGATGCCTGGTCCAACAGCCGTGATAGTGACAGCCTTCTGTCCCTCCGGCCTCTGAATATTGTGAGTGTGGTTCCTGCTCACTTCTGGGTGTTCCTGGAAGCAGGGTGCACTGAGAGCTGGTCAGGCAGCTCATTGCACAAGCTGGGCTGAGGGTTTGGCCCATATGGACCTGGCCTGGGAAGGGCCCTCATGTTTCTGATTTGAACAATTGTGTGGGACAAGAAGTGGGATATTGAAGGGACATTCGGTTGGGGATTGAGACACCAGGACTCACATCTTGAATTAAACCAGCATAGCACTGGGACTTTTCTTTGTAACCGTACTAAAACGATGAGCCACATGGCCCAGTCTCAAATCAGTATTGTTATCAAAGAAATGCAGTCCAGGAAATAACTTCAGAAAGTAGCCAAAATACTTTAAGTTCTCCACTTGTGTTTTTCTAGCACCTGAAAGGGACACAGTCCACAGTGACACTTTTTATTTATTTGTTTATTTATTTATTTTTCGAGACAGACTCCTGCTCTGTCACCCATGCTGGAGTGCAGTCTTTCTCTCTCTCTCTTTTTAAACATTTTTATTTATGTATTTTTATTTCATTTTGAGTTGCAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGAAGGCACATGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGTGGCGTTTTGCCATGTTGGCAAAGCTGGTCTTGAACTTCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCCTGAGCCACCACGCCCGGCCCACAGTGACACTTTAAACACCACCCTTCTCCCTCCCCTGCTTCACTCACACCCCGCAGCTGCTCCAGCCCTTTCTCTTTGTCACATAACTGAGTCCTCCTTAGAGGGCAGTGGAAGAGGGGAAACTGGGAAGATTAAACCGGCATCTGGTTAGGAAAGAGGGAAAGCTCATATGTTGATACTTTTGATCTCTGTCCACCCTCTCCTGGCCTCAGTTTCTCTATCATTTAAATGATGGGATTGAACAAGATCTGGAAATTCCTTTTCAGTTTTATAATCTACGGCTCTAGGTTCCTAAATCAACCAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGAGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACC 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Task1_train_28680 | This variant impacts the gene CRYBB3 (crystallin beta B3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental cataract | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGG | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCCGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGG |
Task1_train_28681 | A mutation on Chromosome 22 affecting CRYBB3 (crystallin beta B3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cataract 22 multiple types | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGG | CAGCTTTGGAGGAATCTCCCCGTCCCTCCTACAGTGAATTTGGGGGTGGAGGCATCTCCTGAGGCCCTTCCCTCCTGCAGCAGGTTTGGGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCCGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGG |
Task1_train_28682 | Mutation context: Chromosome 22, Gene CRYBB3 (crystallin beta B3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cataract 22 multiple types | GGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGTGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGGCTAATTTTTGTGTTTTTAGAAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGCCCACCCACTT 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GGGGTGGGTGTTATTTTGTGGTGACCTGTTGATTCTTTCCGGCATCTGGAGCCTCCTTGACCTCTGTTCTGGATATGGGAGCAGCCGCTCACCCCACGATATTGCCCTCAGGATAGTCCACATCACAAGCTGCATCTGTTTGAGAACCCAGCTTTCAGTGGCCGCAAGATGGAGATAGTGGATGATGACGTGCCCAGCCTGTGGGCTCATGGCTTCCAGGACCGTGTGGCGAGTGTCCGTGCCATCAACGGGACGTAAGGGACCCAACCCTCACCCTTGCCCCATCTTCTGGTCAGCCATGCCTCTGGCTCCAAACAGAATCAGTGCCCATAGTTTCTTATTATTTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACGACCACGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCATCGGTGCCTATAGTTTCTTGCATGATTCATGTTCCCTGCACTCCTGTACTGTTGAGATTTCTAGGCAGCCTTGACTTAAAACAAGTAAAATCTGTTCTCTCCACCTGTTCCCATCTGAGTCCTTCCTGCTTTTTTAAACATCCCCACACCCTTGAACTGATTCTTGAAATGTTCTTCCCCCTCACAACTCTTGTTCTTCTTAACAAGGGGCCCAGGATGTATGCAGTTATTGAGATGTGACACAAGTTGTACAGAGGAGAGCAGGCTTATCACCTCCCTCTTTCTAGGCTTAATATCACCGTTGATGCAGTCTTAGGATCACCTGCTTTTTGTAGGTGGTTACATCTCACTTGTGGGCTTGTAATCTGGGGTTGGGCCTTGAGAGGTGCCACCTATCCCTGATAATAATTTATTCAACAATTTTTTACTGAACATCTACTATATGCTGGTGTGCTGATACAGAGAACAACAAGAATGGCACATCCTCTGGCCCTCAAAAAATTTGCGTAGTCTGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGCGGATCACCTGAGGTCAGGAGTTCATGACCAGCCTGACCACCACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCGAAACTCCATCTAAAAAAAGAAAAATTACATAGTTTGATGGAGAGACAGACAAAGTAACAGGTATTCACAACGTATTGTGATCAGGATTGGGACTGGGATGCACAAGGGGCTCTGGGAGTCCCAGTGAGGTACTCGATTCAGCCTGCAGGAGTCTGGAGACATCTAAATTGAGCTGTAATGGATGCAAGTGGAAAAAAGGGGGAAGGAGAGGGATGAGGTGAGCAAGAGTGTTCCAGGCAGAAGGAATCATGCATACAAAGGCCCCCCAACACAGCAGGTTCCGGGAAAGTAGAATAAGAGAGGCCACGGTGTTGAGTGTGAATGGGATGTTGAGAGATAAGGCTAGAGATGCTTTGTTAAGGGTCCTGTGAGCAGGGTAAAGAGTTTGGATTCATCCCAAGGGCTCTGGGGAGCTAAAGAGGAATGTAGGCAGGCAGAGTGCATGGTCAGATGCTGGCTGGAGGCAGGGTGACTGGAAGCAGACCGTCCACATCTCAACCTTGGTCTCCCGGCAGGTGGGTTGGCTATGAGTTCCCCGGCTACCGTGGGCGCCAGTACGTGTTTGAGCGGGGCGAGTACCGCCACTGGAATGAGTGGGACGCCAGCCAGCCGCAGCTGCAGTCTGAGCGCCGCATCCGTGACCAGAAGTGGCACAAGCGGGGCCGCTTCCCCAGCAGCTGAAAGGCACCCAGACTTCAAGGACCCAGACCCACCCTGGGGGGCTGCAAGGGCAAGAAGAGGAGGCTCCAGGGTTGGGGCGAGGGCCGACCTGTCCACCCTTCCCTGGAATCTGCTCAATAAAGCCTGGGGTTGGTCCCCCACCCGCCACGTTCCTCGGCATCACTTCCTGAGGGAGCCAGGCCTGGGGCGGGACCTGTGGGAGAGGCGTGCTGAAGGAGGCTGGGGCTTGAGTGTTCTGAGACTCCCAGGAAGGGGCTGGGAAATTTGCCCATATCCTAGGCTCTAATCCTTTCAGGCAGAGCCATGTGCCCCTACTGCCCTGATCTTGTGTTTGTCTGCTGCTGCATGTTTCCATCTGAATGTCTGTCAGTCTGCCCATCCACTCACCCATCCATCCATCATCCTTCCACCCACCCACCCACCCATTCATCCACCCATTCACCCACTCATGTGCCCATCCATTCGTCTACTCACCCATCCATCCATCCATCCACCCACCCATTCATCCACCCATTCACCCACCCATGTGCCCATCCATTCATCTACTCACCCATCCATCCATCCACCCACCCACCCATCTACCCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATGCATCCATCCATCCATCCATTCATCCACCCACTTACCCATCCATCCATTCATTCTTCCTTCCATCTTCCTATATTTGTTCTTTCCATTAATTCATCCATTTTTCCTTCCACTCACGCATCTTTCTATCTATCCTTTTATCCACTTATCCATCAATTTTTCTTTCAATCTACTTGTCCATCAATGTGTCCATCTGATCTTCCTTCCTTCCTTCCTTTCTTCCCTCCTTCCTTCCATTCATCTATCCATTATTTCCCCTTCCACCTCTCTGTGGGTCAGTCTCTGTTGTCATTAATGTATTCAGCAAATGCCATGCCCTGTTCAGTGTATTCAGCAAATGCCATGCCCTGTTCAAGGCCTAAGGACAGGGCACAATGTCCTGCCCTCCAGGTTCTCACCTTCTGTGGGAGAGACAGAAAGTAAATAAACAGGTCGATGAGGGCTATAATGTTGGGAGGCGGTAAATACCAAGAACAATAAAGCTGGATAAAAATATGGAAGTGATGGGGGTGGTGGCCAGGAAACTCTGTGCAAAGGAGCCGAGTCCTCAGTGAACCACCAGAACATTCCAGGCAGAGAAATAACAGGTGCAAAGGCCCTAGGCAGGAGTATGCTGGCCTAATGGGAAACAGCCAGGGGCCCAGCAGGTCTGGAATGGAGTAAAAGACTGGGGATAGGGTTCAGAGGGAACAGGGTCAGGTCATTTAGGGCTTTGCAGAACCTAGTGGACTTTGCTTGTTCTCTGAGGGAGGTGGGAGCCATGGAGCATTTGAGCAAAGTGAGCCGTGGTCTGCAGTGGGGTTTAATAGGATCACTCTGGCTAGGGTGCAAATCATACACTTAGTGGCCAAGGAGGGATGCAGAGAGACCAGTTGGGAGGCTACTGCAGAGAGTCTCGTGAGCTGTGTTTGTGCGGTCCACCTGAGCCTCTCTCTCTCATGCCTCAGTATCTCTGTCCCCTTGCCCAGAGGCCTTCTGCAGCCTCGCCTGGGGTACTGAGTGCCCATCCCACCTCCCCCCACTGACCACTGCTCTGGGCCCCCGTGGCTTCATCTGGGCAGTGGGAGTTGCTGAAGAGCTGAACAGAGACACTGGGGCAGTGCCAGGCATAAATGAGGCCTTTGTTTGTTTGTTTATTTAGAGACAGAGTCTCGCTCTGTTGCCCAGGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCTGCTTCGGCGTCCCAAGTAGCTAGGACTACAGGTGCGCAGCACCACGCCCGGCTAATTTTTGTGTTTTTAGAAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGCCCACCCACTT 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Task1_train_28683 | A variant was discovered in gene CRYBB2 (crystallin beta B2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 3 multiple types | CACGTAAGTGCGTTGCCAGCCCTGGCTCACCCTGCCCCAGGAACTGAGACTCTGGGGTCCTAAGTCCTGCTCTGCCCTGTACACGCTGGTGATCTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGGGAACAGGAGGTGTCATTTTCCACTGAATCAAAGTTCCTGGGCACATCGACCCTGGCCATCAGCAGTGAGGGATTTCTCATGGTAATAAATTTGGATTCCATGGGGGTCCACAGATGAGCTTTGGGCAGCGGTGTGCTGGAAACAGCTTATACCAGCTTGTAAGAACTTTTTTTTTTTTTTTTAATTGAGACGGAGGCGCGCACTTTCGCCCTGGCTGGAGTGCAGTGGAATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTATCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAAGCTCAGCTGATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGTTAGTTTTAAACTCCTGACCTCATGACCTGCCTGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGGAACGGACTCTTAAATTTTCAGAATCTGTGTGAACTGGTTGACTAATCATTGGTAGCTTGAAACCAGCCACAGGGTGCATTTACAGCATAGAAATCAGCAAGTGCTGCTAATTAAGGCTCTTTCCCCACAACAGAACCAATTTAGCCAAACATACTGGCTTCTTGGGGTTTGTGAAACTCCTAAAATAGTGTGCAAAGTTCTGTGCTCCTATTCCCCTTCATTCCCTCATTCATTCATTCATTCATTCAATCTGTCAGTGCTGCCATATGCCAGGCATTGTGTTAGGTGCCCAGGGTGAAGGAGATTAAAGAGATCTGGCTTCTGCCCTGTGTAGCCAACAGTCTAGAAGGGGCAACTGTAAATACTTTAAGAATTCACATGAATCTAAGCTACTTCCTTGGAGAAAAGATTCTTGAGCTGAGATCTCAAGGAACAGTAGGAATTGCAGGGGTAAAGAGGCCAAGGAAGAGCATCCCAGACAACGAGAGCAGCATGTGCAAAGGCCCTGTGGTGTGTGTGGGGGAGCCTGGTAGGTCTGAGAAACTCTACAAAGGCCATGGTGGCTGGAATGCAGAGATGTGGGAGCATAAGAATGCGAAGTAGAGCTGGAGGTGTCCACAGAAACTGGCCAGGCAGGTCCTTGCAGGCCAGGCCTGTGTGACATTTTCTGGAGAGAAGACCAGCACTTTCATTAAGTAGCCCCTGGAAACTCTTTCATCAGAAGGCCCCTGGAACCTCCCCCAACTCTTCTTTGACCTTGTAGCTGGGCTTGGAGGTGGGATAGGACTGGAGGGAGACGGTTCAAAGGCCTGGCTTATTCTAAGCTTCAGTGAGCTTAAGATATCACCCCCTTGCTCTGACCCCAGTACAGTACAGTACAGTACAGTACAGTACAGGCCTTCAGTCAAAATTTGCTTCAGGAGGCAGTGAGCTCCCCATCAAGAGAAGGAAGAAAGCAGAGGCTCAGTGCTGGAAGGGTGGGGTGGAAAGGGTGTCCTGCTTACCCTTGGGAAGTGGCAATGGTTGGGAGGCTTCACCCTTCCTAGTGGCTTATGGATGCTCTATCTCTCTCCCCTCGCCTCTCTCTCTGTCTGCTTCTCTTCCTGTCCCCCTCGTTCACCCTCCCATCACCTCTGGCCCTGCAGGTGGGTTGGCTACCAGTACCCCGGCTACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCGACTTTGGGGCCCCTCACCCCCAGGTGCAGTCCGTGCGCCGTATCCGCGACATGCAGTGGCACCAACGTGGTGCCTTCCACCCCTCCAACTAGTGCCCTCCCCACCATGCCTCCTTCCCAGGACCCAGGTCTGCTGCCCAGGAACCCTCCAGACCTCCCAGAGAGTGAATAAAGTGTGACTTGCAACTTGTCTGCTGTGGGTCTTTGATCTCCCCTGGCAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGTGACAGCGAGAGAGAAATGAGAATCAGCAAGTACCTGTGCTAGGAGTAGGGCAACAGAACCCTTACTGAGTCTTACGGTTCTGCAGCTGCTTAGCTGTGTGACCTTGGACACAGTGCCCAACCTCTCTGAGCCTTTGTTTCTTCACCTGACTTGCAATTCCCTTGCCTCTGAGTGGCTGGCTTGGTTGAGCTCCTGAGCTCCCTGTTACATGCTGGTTGCTGAGCACAGTCACTCTCAGGGGCATGTGATGGGTGCCCCAGCCCTTAAAAACATATCCACTGCCCGTCAATCTCACATTATCACATTGTCCCCTTGAGTCTGGGGGTCTTTTTGGATCTGCAAGAGAAGCCAAGAACCCTGAAACCCCCACTCCAGCCCGGAGAGGTCAGAATGCCATGTTTGTGAGTGTGATCATTCATTCATCATATGGCTGAGGGCAACTGTTAGTAATTGAAGAATCTACGCAACCTCTAAGCTACTTCAATGAGGAAGAGACTATTGAGCTGTGAGGATCTTGGCTGTAGCCAGGCTCAAGGTGATGCAATGATCTGGGAATGAAGGCTGGGTTTACACTGCTGTTCTGGGGCACTGGCCAGGGATAGAGGCTCAGGCAAGTCCTTTTGCCTTCAGAGCTTTGATGTTTCTACTCAGGAAGATGGGAGAGAAATAGTACCTTCCTAACGCGGTTGCGATGGGGCTGAAACAAGATGCTGCAGGCCTTCTGTCTTTAGACTCAGCTTTTGTTGGTTAATTTGTAGTGCAAATATCCGCTTCCTGGGTACAGCCTCTTGTCACTTTGTTTTTGGTATCTCTTGATGACATTTTAAATTTTAATGTGGTCAAACAGCAATATTTTCCTTTAGGGTTTATGCCTTTCAAATCTCCTTGAAGAAATTCTTTCTTTCTTTTTTTTTTTTCCCCCCAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTATAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAGTTTTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGCAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACCCCTGAAATTGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCTGGCCAACCTTGAAGAAATTCTTTCTAATCCCTGGTTACAAAGAAATTCTCCAATATATTTTCTTCCCCTAAACTTTTAAAACTTTTGCTCTTCACATTTGCGTTCTTAATCCCTCTGGAGCTGATTCTTGTATGTAGTGTATGGTAGAGATTCAGTTTCTTTTTCTTTTTTTTCCACTTTGGACGTCCAGTGTCCTAAAATCATTCATGAAGGGGTCCATTTCCTGCACTGTGGTGCAGTGTCACCTTGCTGATCTATCCCCTTCCCCACAGGTGGGGTGATTTTATAGGCCCTCCACCCCCGGGCCTCCGGTGGCCTGGAATGGGGGCTGCACAGCAGGAGGTGGGGATTACAGCCTGAGCTCCGCCTCCCGTCAGACCAGCGGCAGCATTAGATTCTCATAGGGGTGCAAACCCTATTGTGAACTGCACATGGAAAGGATCTAGGTTGCATGCTCCAATGAGAATCTAATGTGTCCCCTGCCCACAGCCCATGAAAAACTGTCTTCCACAAAA 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CACGTAAGTGCGTTGCCAGCCCTGGCTCACCCTGCCCCAGGAACTGAGACTCTGGGGTCCTAAGTCCTGCTCTGCCCTGTACACGCTGGTGATCTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGGGAACAGGAGGTGTCATTTTCCACTGAATCAAAGTTCCTGGGCACATCGACCCTGGCCATCAGCAGTGAGGGATTTCTCATGGTAATAAATTTGGATTCCATGGGGGTCCACAGATGAGCTTTGGGCAGCGGTGTGCTGGAAACAGCTTATACCAGCTTGTAAGAACTTTTTTTTTTTTTTTTAATTGAGACGGAGGCGCGCACTTTCGCCCTGGCTGGAGTGCAGTGGAATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTATCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAAGCTCAGCTGATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGTTAGTTTTAAACTCCTGACCTCATGACCTGCCTGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGGAACGGACTCTTAAATTTTCAGAATCTGTGTGAACTGGTTGACTAATCATTGGTAGCTTGAAACCAGCCACAGGGTGCATTTACAGCATAGAAATCAGCAAGTGCTGCTAATTAAGGCTCTTTCCCCACAACAGAACCAATTTAGCCAAACATACTGGCTTCTTGGGGTTTGTGAAACTCCTAAAATAGTGTGCAAAGTTCTGTGCTCCTATTCCCCTTCATTCCCTCATTCATTCATTCATTCATTCAATCTGTCAGTGCTGCCATATGCCAGGCATTGTGTTAGGTGCCCAGGGTGAAGGAGATTAAAGAGATCTGGCTTCTGCCCTGTGTAGCCAACAGTCTAGAAGGGGCAACTGTAAATACTTTAAGAATTCACATGAATCTAAGCTACTTCCTTGGAGAAAAGATTCTTGAGCTGAGATCTCAAGGAACAGTAGGAATTGCAGGGGTAAAGAGGCCAAGGAAGAGCATCCCAGACAACGAGAGCAGCATGTGCAAAGGCCCTGTGGTGTGTGTGGGGGAGCCTGGTAGGTCTGAGAAACTCTACAAAGGCCATGGTGGCTGGAATGCAGAGATGTGGGAGCATAAGAATGCGAAGTAGAGCTGGAGGTGTCCACAGAAACTGGCCAGGCAGGTCCTTGCAGGCCAGGCCTGTGTGACATTTTCTGGAGAGAAGACCAGCACTTTCATTAAGTAGCCCCTGGAAACTCTTTCATCAGAAGGCCCCTGGAACCTCCCCCAACTCTTCTTTGACCTTGTAGCTGGGCTTGGAGGTGGGATAGGACTGGAGGGAGACGGTTCAAAGGCCTGGCTTATTCTAAGCTTCAGTGAGCTTAAGATATCACCCCCTTGCTCTGACCCCAGTACAGTACAGTACAGTACAGTACAGTACAGGCCTTCAGTCAAAATTTGCTTCAGGAGGCAGTGAGCTCCCCATCAAGAGAAGGAAGAAAGCAGAGGCTCAGTGCTGGAAGGGTGGGGTGGAAAGGGTGTCCTGCTTACCCTTGGGAAGTGGCAATGGTTGGGAGGCTTCACCCTTCCTAGTGGCTTATGGATGCTCTATCTCTCTCCCCTCGCCTCTCTCTCTGTCTGCTTCTCTTCCTGTCCCCCTCGTTCACCCTCCCATCACCTCTGGCCCTGCAGGTGGGTTGGCTACCAGTACCTCGGCTACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCGACTTTGGGGCCCCTCACCCCCAGGTGCAGTCCGTGCGCCGTATCCGCGACATGCAGTGGCACCAACGTGGTGCCTTCCACCCCTCCAACTAGTGCCCTCCCCACCATGCCTCCTTCCCAGGACCCAGGTCTGCTGCCCAGGAACCCTCCAGACCTCCCAGAGAGTGAATAAAGTGTGACTTGCAACTTGTCTGCTGTGGGTCTTTGATCTCCCCTGGCAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGTGACAGCGAGAGAGAAATGAGAATCAGCAAGTACCTGTGCTAGGAGTAGGGCAACAGAACCCTTACTGAGTCTTACGGTTCTGCAGCTGCTTAGCTGTGTGACCTTGGACACAGTGCCCAACCTCTCTGAGCCTTTGTTTCTTCACCTGACTTGCAATTCCCTTGCCTCTGAGTGGCTGGCTTGGTTGAGCTCCTGAGCTCCCTGTTACATGCTGGTTGCTGAGCACAGTCACTCTCAGGGGCATGTGATGGGTGCCCCAGCCCTTAAAAACATATCCACTGCCCGTCAATCTCACATTATCACATTGTCCCCTTGAGTCTGGGGGTCTTTTTGGATCTGCAAGAGAAGCCAAGAACCCTGAAACCCCCACTCCAGCCCGGAGAGGTCAGAATGCCATGTTTGTGAGTGTGATCATTCATTCATCATATGGCTGAGGGCAACTGTTAGTAATTGAAGAATCTACGCAACCTCTAAGCTACTTCAATGAGGAAGAGACTATTGAGCTGTGAGGATCTTGGCTGTAGCCAGGCTCAAGGTGATGCAATGATCTGGGAATGAAGGCTGGGTTTACACTGCTGTTCTGGGGCACTGGCCAGGGATAGAGGCTCAGGCAAGTCCTTTTGCCTTCAGAGCTTTGATGTTTCTACTCAGGAAGATGGGAGAGAAATAGTACCTTCCTAACGCGGTTGCGATGGGGCTGAAACAAGATGCTGCAGGCCTTCTGTCTTTAGACTCAGCTTTTGTTGGTTAATTTGTAGTGCAAATATCCGCTTCCTGGGTACAGCCTCTTGTCACTTTGTTTTTGGTATCTCTTGATGACATTTTAAATTTTAATGTGGTCAAACAGCAATATTTTCCTTTAGGGTTTATGCCTTTCAAATCTCCTTGAAGAAATTCTTTCTTTCTTTTTTTTTTTTCCCCCCAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTATAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAGTTTTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGCAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACCCCTGAAATTGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCTGGCCAACCTTGAAGAAATTCTTTCTAATCCCTGGTTACAAAGAAATTCTCCAATATATTTTCTTCCCCTAAACTTTTAAAACTTTTGCTCTTCACATTTGCGTTCTTAATCCCTCTGGAGCTGATTCTTGTATGTAGTGTATGGTAGAGATTCAGTTTCTTTTTCTTTTTTTTCCACTTTGGACGTCCAGTGTCCTAAAATCATTCATGAAGGGGTCCATTTCCTGCACTGTGGTGCAGTGTCACCTTGCTGATCTATCCCCTTCCCCACAGGTGGGGTGATTTTATAGGCCCTCCACCCCCGGGCCTCCGGTGGCCTGGAATGGGGGCTGCACAGCAGGAGGTGGGGATTACAGCCTGAGCTCCGCCTCCCGTCAGACCAGCGGCAGCATTAGATTCTCATAGGGGTGCAAACCCTATTGTGAACTGCACATGGAAAGGATCTAGGTTGCATGCTCCAATGAGAATCTAATGTGTCCCCTGCCCACAGCCCATGAAAAACTGTCTTCCACAAAA 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Task1_train_28684 | Consider this mutation in CRYBB2 (crystallin beta B2) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental cataract | CTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGGGAACAGGAGGTGTCATTTTCCACTGAATCAAAGTTCCTGGGCACATCGACCCTGGCCATCAGCAGTGAGGGATTTCTCATGGTAATAAATTTGGATTCCATGGGGGTCCACAGATGAGCTTTGGGCAGCGGTGTGCTGGAAACAGCTTATACCAGCTTGTAAGAACTTTTTTTTTTTTTTTTAATTGAGACGGAGGCGCGCACTTTCGCCCTGGCTGGAGTGCAGTGGAATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTATCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAAGCTCAGCTGATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGTTAGTTTTAAACTCCTGACCTCATGACCTGCCTGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGGAACGGACTCTTAAATTTTCAGAATCTGTGTGAACTGGTTGACTAATCATTGGTAGCTTGAAACCAGCCACAGGGTGCATTTACAGCATAGAAATCAGCAAGTGCTGCTAATTAAGGCTCTTTCCCCACAACAGAACCAATTTAGCCAAACATACTGGCTTCTTGGGGTTTGTGAAACTCCTAAAATAGTGTGCAAAGTTCTGTGCTCCTATTCCCCTTCATTCCCTCATTCATTCATTCATTCATTCAATCTGTCAGTGCTGCCATATGCCAGGCATTGTGTTAGGTGCCCAGGGTGAAGGAGATTAAAGAGATCTGGCTTCTGCCCTGTGTAGCCAACAGTCTAGAAGGGGCAACTGTAAATACTTTAAGAATTCACATGAATCTAAGCTACTTCCTTGGAGAAAAGATTCTTGAGCTGAGATCTCAAGGAACAGTAGGAATTGCAGGGGTAAAGAGGCCAAGGAAGAGCATCCCAGACAACGAGAGCAGCATGTGCAAAGGCCCTGTGGTGTGTGTGGGGGAGCCTGGTAGGTCTGAGAAACTCTACAAAGGCCATGGTGGCTGGAATGCAGAGATGTGGGAGCATAAGAATGCGAAGTAGAGCTGGAGGTGTCCACAGAAACTGGCCAGGCAGGTCCTTGCAGGCCAGGCCTGTGTGACATTTTCTGGAGAGAAGACCAGCACTTTCATTAAGTAGCCCCTGGAAACTCTTTCATCAGAAGGCCCCTGGAACCTCCCCCAACTCTTCTTTGACCTTGTAGCTGGGCTTGGAGGTGGGATAGGACTGGAGGGAGACGGTTCAAAGGCCTGGCTTATTCTAAGCTTCAGTGAGCTTAAGATATCACCCCCTTGCTCTGACCCCAGTACAGTACAGTACAGTACAGTACAGTACAGGCCTTCAGTCAAAATTTGCTTCAGGAGGCAGTGAGCTCCCCATCAAGAGAAGGAAGAAAGCAGAGGCTCAGTGCTGGAAGGGTGGGGTGGAAAGGGTGTCCTGCTTACCCTTGGGAAGTGGCAATGGTTGGGAGGCTTCACCCTTCCTAGTGGCTTATGGATGCTCTATCTCTCTCCCCTCGCCTCTCTCTCTGTCTGCTTCTCTTCCTGTCCCCCTCGTTCACCCTCCCATCACCTCTGGCCCTGCAGGTGGGTTGGCTACCAGTACCCCGGCTACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCGACTTTGGGGCCCCTCACCCCCAGGTGCAGTCCGTGCGCCGTATCCGCGACATGCAGTGGCACCAACGTGGTGCCTTCCACCCCTCCAACTAGTGCCCTCCCCACCATGCCTCCTTCCCAGGACCCAGGTCTGCTGCCCAGGAACCCTCCAGACCTCCCAGAGAGTGAATAAAGTGTGACTTGCAACTTGTCTGCTGTGGGTCTTTGATCTCCCCTGGCAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGTGACAGCGAGAGAGAAATGAGAATCAGCAAGTACCTGTGCTAGGAGTAGGGCAACAGAACCCTTACTGAGTCTTACGGTTCTGCAGCTGCTTAGCTGTGTGACCTTGGACACAGTGCCCAACCTCTCTGAGCCTTTGTTTCTTCACCTGACTTGCAATTCCCTTGCCTCTGAGTGGCTGGCTTGGTTGAGCTCCTGAGCTCCCTGTTACATGCTGGTTGCTGAGCACAGTCACTCTCAGGGGCATGTGATGGGTGCCCCAGCCCTTAAAAACATATCCACTGCCCGTCAATCTCACATTATCACATTGTCCCCTTGAGTCTGGGGGTCTTTTTGGATCTGCAAGAGAAGCCAAGAACCCTGAAACCCCCACTCCAGCCCGGAGAGGTCAGAATGCCATGTTTGTGAGTGTGATCATTCATTCATCATATGGCTGAGGGCAACTGTTAGTAATTGAAGAATCTACGCAACCTCTAAGCTACTTCAATGAGGAAGAGACTATTGAGCTGTGAGGATCTTGGCTGTAGCCAGGCTCAAGGTGATGCAATGATCTGGGAATGAAGGCTGGGTTTACACTGCTGTTCTGGGGCACTGGCCAGGGATAGAGGCTCAGGCAAGTCCTTTTGCCTTCAGAGCTTTGATGTTTCTACTCAGGAAGATGGGAGAGAAATAGTACCTTCCTAACGCGGTTGCGATGGGGCTGAAACAAGATGCTGCAGGCCTTCTGTCTTTAGACTCAGCTTTTGTTGGTTAATTTGTAGTGCAAATATCCGCTTCCTGGGTACAGCCTCTTGTCACTTTGTTTTTGGTATCTCTTGATGACATTTTAAATTTTAATGTGGTCAAACAGCAATATTTTCCTTTAGGGTTTATGCCTTTCAAATCTCCTTGAAGAAATTCTTTCTTTCTTTTTTTTTTTTCCCCCCAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTATAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAGTTTTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGCAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACCCCTGAAATTGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCTGGCCAACCTTGAAGAAATTCTTTCTAATCCCTGGTTACAAAGAAATTCTCCAATATATTTTCTTCCCCTAAACTTTTAAAACTTTTGCTCTTCACATTTGCGTTCTTAATCCCTCTGGAGCTGATTCTTGTATGTAGTGTATGGTAGAGATTCAGTTTCTTTTTCTTTTTTTTCCACTTTGGACGTCCAGTGTCCTAAAATCATTCATGAAGGGGTCCATTTCCTGCACTGTGGTGCAGTGTCACCTTGCTGATCTATCCCCTTCCCCACAGGTGGGGTGATTTTATAGGCCCTCCACCCCCGGGCCTCCGGTGGCCTGGAATGGGGGCTGCACAGCAGGAGGTGGGGATTACAGCCTGAGCTCCGCCTCCCGTCAGACCAGCGGCAGCATTAGATTCTCATAGGGGTGCAAACCCTATTGTGAACTGCACATGGAAAGGATCTAGGTTGCATGCTCCAATGAGAATCTAATGTGTCCCCTGCCCACAGCCCATGAAAAACTGTCTTCCACAAAATCGATCCCTGGTGCCAAAACATTTGGGGACCACTGCCCTATAATATGATTCTTCAGGAATGTTTTAGGTATTCTTGACCTTTCAGGACTCCAC | CTTGCACACATCAGTGTGCTCTGCTGACCTCTGGCTTCCCACTGGAAAGTAAATGGGAATTCTCTGCCCATAGGTGGCTTACAGCCGCTGAATTTCTTTCTAGAGCTGCCTTTGGGGAAATGGTATGCCTTTGGAGTGGAGAAACCTTGGCCTTAACCTCAGCCCCAGTGAGCAAGACATGTATGTCAGAGGGGCAAGTTGAGGCAGAGGGAGGATTAGGTTGAGGCAGGAGGGAAGGAATGAGTTGAGTAGTCTGAAAGCTATGAGAAGCAGGAGGACCAGCCCATGCTGCCTTTGACCGCGTGTGTCCCTAAGTTTGGGAACAGGAGGTGTCATTTTCCACTGAATCAAAGTTCCTGGGCACATCGACCCTGGCCATCAGCAGTGAGGGATTTCTCATGGTAATAAATTTGGATTCCATGGGGGTCCACAGATGAGCTTTGGGCAGCGGTGTGCTGGAAACAGCTTATACCAGCTTGTAAGAACTTTTTTTTTTTTTTTTAATTGAGACGGAGGCGCGCACTTTCGCCCTGGCTGGAGTGCAGTGGAATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTATCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAAGCTCAGCTGATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGTTAGTTTTAAACTCCTGACCTCATGACCTGCCTGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGGAACGGACTCTTAAATTTTCAGAATCTGTGTGAACTGGTTGACTAATCATTGGTAGCTTGAAACCAGCCACAGGGTGCATTTACAGCATAGAAATCAGCAAGTGCTGCTAATTAAGGCTCTTTCCCCACAACAGAACCAATTTAGCCAAACATACTGGCTTCTTGGGGTTTGTGAAACTCCTAAAATAGTGTGCAAAGTTCTGTGCTCCTATTCCCCTTCATTCCCTCATTCATTCATTCATTCATTCAATCTGTCAGTGCTGCCATATGCCAGGCATTGTGTTAGGTGCCCAGGGTGAAGGAGATTAAAGAGATCTGGCTTCTGCCCTGTGTAGCCAACAGTCTAGAAGGGGCAACTGTAAATACTTTAAGAATTCACATGAATCTAAGCTACTTCCTTGGAGAAAAGATTCTTGAGCTGAGATCTCAAGGAACAGTAGGAATTGCAGGGGTAAAGAGGCCAAGGAAGAGCATCCCAGACAACGAGAGCAGCATGTGCAAAGGCCCTGTGGTGTGTGTGGGGGAGCCTGGTAGGTCTGAGAAACTCTACAAAGGCCATGGTGGCTGGAATGCAGAGATGTGGGAGCATAAGAATGCGAAGTAGAGCTGGAGGTGTCCACAGAAACTGGCCAGGCAGGTCCTTGCAGGCCAGGCCTGTGTGACATTTTCTGGAGAGAAGACCAGCACTTTCATTAAGTAGCCCCTGGAAACTCTTTCATCAGAAGGCCCCTGGAACCTCCCCCAACTCTTCTTTGACCTTGTAGCTGGGCTTGGAGGTGGGATAGGACTGGAGGGAGACGGTTCAAAGGCCTGGCTTATTCTAAGCTTCAGTGAGCTTAAGATATCACCCCCTTGCTCTGACCCCAGTACAGTACAGTACAGTACAGTACAGTACAGGCCTTCAGTCAAAATTTGCTTCAGGAGGCAGTGAGCTCCCCATCAAGAGAAGGAAGAAAGCAGAGGCTCAGTGCTGGAAGGGTGGGGTGGAAAGGGTGTCCTGCTTACCCTTGGGAAGTGGCAATGGTTGGGAGGCTTCACCCTTCCTAGTGGCTTATGGATGCTCTATCTCTCTCCCCTCGCCTCTCTCTCTGTCTGCTTCTCTTCCTGTCCCCCTCGTTCACCCTCCCATCACCTCTGGCCCTGCAGGTGGGTTGGCTACCAGTACCCCGGCTACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCGACTTTGGGGCCCCTCACCCCCAGGTGCAGTCCGTGCTCCGTATCCGCGACATGCAGTGGCACCAACGTGGTGCCTTCCACCCCTCCAACTAGTGCCCTCCCCACCATGCCTCCTTCCCAGGACCCAGGTCTGCTGCCCAGGAACCCTCCAGACCTCCCAGAGAGTGAATAAAGTGTGACTTGCAACTTGTCTGCTGTGGGTCTTTGATCTCCCCTGGCAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGTGACAGCGAGAGAGAAATGAGAATCAGCAAGTACCTGTGCTAGGAGTAGGGCAACAGAACCCTTACTGAGTCTTACGGTTCTGCAGCTGCTTAGCTGTGTGACCTTGGACACAGTGCCCAACCTCTCTGAGCCTTTGTTTCTTCACCTGACTTGCAATTCCCTTGCCTCTGAGTGGCTGGCTTGGTTGAGCTCCTGAGCTCCCTGTTACATGCTGGTTGCTGAGCACAGTCACTCTCAGGGGCATGTGATGGGTGCCCCAGCCCTTAAAAACATATCCACTGCCCGTCAATCTCACATTATCACATTGTCCCCTTGAGTCTGGGGGTCTTTTTGGATCTGCAAGAGAAGCCAAGAACCCTGAAACCCCCACTCCAGCCCGGAGAGGTCAGAATGCCATGTTTGTGAGTGTGATCATTCATTCATCATATGGCTGAGGGCAACTGTTAGTAATTGAAGAATCTACGCAACCTCTAAGCTACTTCAATGAGGAAGAGACTATTGAGCTGTGAGGATCTTGGCTGTAGCCAGGCTCAAGGTGATGCAATGATCTGGGAATGAAGGCTGGGTTTACACTGCTGTTCTGGGGCACTGGCCAGGGATAGAGGCTCAGGCAAGTCCTTTTGCCTTCAGAGCTTTGATGTTTCTACTCAGGAAGATGGGAGAGAAATAGTACCTTCCTAACGCGGTTGCGATGGGGCTGAAACAAGATGCTGCAGGCCTTCTGTCTTTAGACTCAGCTTTTGTTGGTTAATTTGTAGTGCAAATATCCGCTTCCTGGGTACAGCCTCTTGTCACTTTGTTTTTGGTATCTCTTGATGACATTTTAAATTTTAATGTGGTCAAACAGCAATATTTTCCTTTAGGGTTTATGCCTTTCAAATCTCCTTGAAGAAATTCTTTCTTTCTTTTTTTTTTTTCCCCCCAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTATAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAGTTTTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGCAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACCCCTGAAATTGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCTGGCCAACCTTGAAGAAATTCTTTCTAATCCCTGGTTACAAAGAAATTCTCCAATATATTTTCTTCCCCTAAACTTTTAAAACTTTTGCTCTTCACATTTGCGTTCTTAATCCCTCTGGAGCTGATTCTTGTATGTAGTGTATGGTAGAGATTCAGTTTCTTTTTCTTTTTTTTCCACTTTGGACGTCCAGTGTCCTAAAATCATTCATGAAGGGGTCCATTTCCTGCACTGTGGTGCAGTGTCACCTTGCTGATCTATCCCCTTCCCCACAGGTGGGGTGATTTTATAGGCCCTCCACCCCCGGGCCTCCGGTGGCCTGGAATGGGGGCTGCACAGCAGGAGGTGGGGATTACAGCCTGAGCTCCGCCTCCCGTCAGACCAGCGGCAGCATTAGATTCTCATAGGGGTGCAAACCCTATTGTGAACTGCACATGGAAAGGATCTAGGTTGCATGCTCCAATGAGAATCTAATGTGTCCCCTGCCCACAGCCCATGAAAAACTGTCTTCCACAAAATCGATCCCTGGTGCCAAAACATTTGGGGACCACTGCCCTATAATATGATTCTTCAGGAATGTTTTAGGTATTCTTGACCTTTCAGGACTCCAC |
Task1_train_28685 | Consider this mutation in CRYBA4, CRYBB1 (crystallin beta A4| crystallin beta B1) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Cataract 17 multiple types | CAGGGCAGAGAGAGGAAGGGTTAGACCAAGCTTATTTAACCTGCGGCCTGCAGGCCACATGTGGCTCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTGAACTTTCTTAAAACATTATGAGATTTTTTTTGCAATTGTTTTAAAGCTCATCCGCTATCGTTAGTGATAGTGTATTTTATGTGTAGCCCAAGACAATTCTTCCAGCGTGGGCCAGGGAAGCCAAAATATTGGGCACCCCTGAATTAGATGGTTGGATCTCAGCCCTGGCTGCACAGACGGACTACTTAGAGGGCATAGAAAAGATAGCAGTGCCGGAGTTCCAGCCCTAGAGATTCAGAATTAATTGGTCTGGGGTGGGGTCTAGGCTTTGAGATTTCTAAACATTTCTAATAACATATTTTATTTAAACAAATATACCTAAAATATTATAATTTCAATATGTAACCAATATAATGATATCAATGCATTGTTGACATTCTTTAAAATTTTTTTTACTATGTATTCAAAACCTAATATGTATTTTACACTTATGACACATCTCCATTTAGCCAAAATTCAAGTGTCCAATGGCCACATATGGCTACTGCCTATTATGTTGAATAGCAAGCTTCTAGAAGCTACTGGAAATGCCCTGGTTGATCACTCTTCCAAACAAACCCCTTAACATAGGTTGGCATATAAGAACCATTCAATGATTGAGAGAGACATCTGTGAATTCTTACAGAGAGTGCATCATGAAGGCAAATAATTCAGTCTTACATTCTGCGAAAAGTGTTGGGAATGATCTGTTTGAATAATCCATTAAGATAAATTTGGTGATGTCAAAACAGCTGGTGGTTGGCACTTGATAGCCTCAAATGCACATTCATGAAAATTCTTATAAATGTTCCCATCATGGAAGACAAAAGTCGGTTACCATCAGCAACTAACATTGGTGAGTAAGATGTAGCTGGTTCATGACTCATCATCAACTTAATTCTGGAAAAAACTGTGAATCACTTGGAGATATCGCCACCATTTTGACCTTGAATCTTCTGGAAGTTGACTTAGTTAAATATTATAAGAAACTAATTCAGTATATTGTCTTATTATTAAGAGGTTCAAGCTGCGTTTCTACAGTATCCCTCTCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCACCGTCACCCCGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTTGCTAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGTCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGGGTAACCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCATGCCCGGCTACAATATCCCTCTTCTTAGCCATTGCATGATCTGCAACCAGCATGTTTGGTGTTTCGAATGGGCACTGAAATTTGAAAAGTTTTCCCAGGCCTGGCATGGTGGCTCACGGCTGTAATCCTAGCACTTTAGGAGGCCCAGGCGGGAGGATCACTTGAGGCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCACACTACTGTACACCAGGCTGGGGGACACAGCAAAACCCCATCTTTGGGAAAAAAAAAAAAAAAAAAAGCTCCCAGTAAGGTCTAAATGTGCAGCCAGGGATATCAAGAGAATCAAGGAAGATGCTGAAGTTTTTAGCTCTAACTTGGAAGCTTTTGTGCTTATCATTTGCCCAGGGTTCCTAGCTGGGTATGTAGTGAGTGTGTTAAGGACACTGATGAATTGATGAGCTCAAGAATCCACGGTCCTTTGACAACTCGGAGGCTGCCACGCCTCCCTACCCACCATCATCTCCTTCTTGCCCTTGTCAGATCTCAGACTTACACCTGCCCTGCCCCGCCTGGCTGATTCTCCAGCCCCAGCCGGAGAGCCACTCACCATTTTGATGGGCCGGAAGGACATGAGCCGATCACTGCGGTAGCTGCTCGACCATGTGTTCCAGCGAGGGTACTCGCCCTTCTCCAGGATGAACATCTCCCCGCGGAAGTTGGACTGCTCAAAGGCGACCCAGCTGGATACAAGAAGGACCATGAGGCAGACAGGAGACATATGGTTAGTAGAAGCCCCCACTCCCTACTTGCCTTTCTCTCTCCCCTGGCAAGGCAGCCCTGAGGACAGTAGGAAAGTCCAAAGGGGGCTGAACATGTCTGGGTTTGATTTTAGGCTCTGACACTTACAGGCTGTGTGACTATGGGCAAGTGACTTTACCTCTCTGAGCCTTTGTTTCTCATCTACACTCATATGCCTGTTTCCTTGGAGTTGGTGAAGGATTAAGTGAGATAAATGTGTGTGATTATCTGAGCACACTGTTTCTCTAGATGTAAGGTTCATACATGCTTCAAGTACTATCAGGACTTGGAGCCAAGGAACACATAGACATTTGAAACTTGACGCCAGCTAGGAGAAAGGCTCGTTTGATGTTAATGTGCCTTTAACACTTACTAATCTCTCCTTTTTTTCTTTTGTAACAAAGAGAGAAAAGACCACTAGCCCAGAACCTCCAGCAGACAATGGTGTAATAGCAACATAATAATACCACTTTTGTGTTTATTGTTAATTTTGTATGGATACCTTTTACTTATAGGAAATAATACTAGCCTTCCATTTGTAAAAAGTGGTGTCAGGGTTCTTTTAAAATGTGTTTATTTGTGGTTAGCAGGATCATTTTAAATGAAATATATTAAATGAACGACAGTCTCGGAGGTACAGGGGTAAGGGAAAAATTGATACAGGTGTTTGCATCCTTGCTGGGTAAATACTGGCCTGGTATTCGGGAGATACTCAGTAACTAGTATGAGGCAATGGGAAGGGAATGATGGTAATATCTACCCTCAGATACCTATGGTAATATAATGTGATAGCGCTTATGAAGATGCTAGGTTCCTTACATGGACTAATTAGAAGTTTGAAATTAGATGGAAGATTTTCCTGGCTTTCCCAGTGAAGATTGATTAAGGACAAGAAGTGAGCTTGTGTTACAGGGACCAGGGATTGTGGCAGTGCAGGTGGGGTAGATAAGACAATCCCCATTCCGTAGATGAGAAAGCTGAGACTAAGGAACTCCTTGACCTTTGCTCCCCGTGTGTTCAAGAGTTCTTAGGAAAAAAGAGACGGATGAGGGGACACTGACACTAGCATCTTCTCCCAGGGGGCTGCTGGGACCCTGCTCTCCCCAGAAGGAGACAAGGATGATGGGCTATCACCATGGGCTGAGACAGAATGCATCACAGGAGCCTCAGGTCTTTGTCTGAGAGATGAGTTAACCACACTGGAGTAAATTAAAGATATGTTTGTCTTCCCAGAATAGAGTTGCATTTGCCTCAGCCCTGTCTGGTCTGGAGTAGAAGAGAAATAAATGGGAGAATAGATGGATGGATGGACAGATGAATGGGTGGATGGATGGGTGGATGAAAGGATGGTTGAATAGATGGATAGGTGGATGGGTAGATGGACAGATGAATGGATGCATGGATAAAGGGATGGATGAAGGGATGGTTGAATTGATGGATAGCTAGATGGGTAGATGGATGGGTGGGTAGATGGATAGATTTATAGATGGATGGGTGGGTGATGGAGAACACATGGTGGGTACGTGTGTATAAATGGAGAATGGATGTATGTATGGATAGATCAATAGACGAATGGGTAGATGCATGGGTAAGTAGATGGATGATGAATAAATGGGTGGATAGACGCATGGGTGAATAAGAAGGGAGCCTTGGAAGGTGGTTTCATGTAGGAGTTAAGAGGACAGACCCTGGAAACAGACAGACCTGAATTCTAATCCAAGCTTTGCCATTTGCTGCATGCATTTGGGCAGCACTTACACCTGCTAAGCTTTAGTAACAGAGAAGAAATGATACATCTACTTTGTTGCATCTACCTTGTTGGGAGATTATGAGGGCCTAAAAGAGGGAATGCATGGAACAGATACAGCACAGAGTAAGCCTCCAAATTAATACTGTTCCTGA | CAGGGCAGAGAGAGGAAGGGTTAGACCAAGCTTATTTAACCTGCGGCCTGCAGGCCACATGTGGCTCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTGAACTTTCTTAAAACATTATGAGATTTTTTTTGCAATTGTTTTAAAGCTCATCCGCTATCGTTAGTGATAGTGTATTTTATGTGTAGCCCAAGACAATTCTTCCAGCGTGGGCCAGGGAAGCCAAAATATTGGGCACCCCTGAATTAGATGGTTGGATCTCAGCCCTGGCTGCACAGACGGACTACTTAGAGGGCATAGAAAAGATAGCAGTGCCGGAGTTCCAGCCCTAGAGATTCAGAATTAATTGGTCTGGGGTGGGGTCTAGGCTTTGAGATTTCTAAACATTTCTAATAACATATTTTATTTAAACAAATATACCTAAAATATTATAATTTCAATATGTAACCAATATAATGATATCAATGCATTGTTGACATTCTTTAAAATTTTTTTTACTATGTATTCAAAACCTAATATGTATTTTACACTTATGACACATCTCCATTTAGCCAAAATTCAAGTGTCCAATGGCCACATATGGCTACTGCCTATTATGTTGAATAGCAAGCTTCTAGAAGCTACTGGAAATGCCCTGGTTGATCACTCTTCCAAACAAACCCCTTAACATAGGTTGGCATATAAGAACCATTCAATGATTGAGAGAGACATCTGTGAATTCTTACAGAGAGTGCATCATGAAGGCAAATAATTCAGTCTTACATTCTGCGAAAAGTGTTGGGAATGATCTGTTTGAATAATCCATTAAGATAAATTTGGTGATGTCAAAACAGCTGGTGGTTGGCACTTGATAGCCTCAAATGCACATTCATGAAAATTCTTATAAATGTTCCCATCATGGAAGACAAAAGTCGGTTACCATCAGCAACTAACATTGGTGAGTAAGATGTAGCTGGTTCATGACTCATCATCAACTTAATTCTGGAAAAAACTGTGAATCACTTGGAGATATCGCCACCATTTTGACCTTGAATCTTCTGGAAGTTGACTTAGTTAAATATTATAAGAAACTAATTCAGTATATTGTCTTATTATTAAGAGGTTCAAGCTGCGTTTCTACAGTATCCCTCTCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCACCGTCACCCCGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTTGCTAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGTCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGGGTAACCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCATGCCCGGCTACAATATCCCTCTTCTTAGCCATTGCATGATCTGCAACCAGCATGTTTGGTGTTTCGAATGGGCACTGAAATTTGAAAAGTTTTCCCAGGCCTGGCATGGTGGCTCACGGCTGTAATCCTAGCACTTTAGGAGGCCCAGGCGGGAGGATCACTTGAGGCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCACACTACTGTACACCAGGCTGGGGGACACAGCAAAACCCCATCTTTGGGAAAAAAAAAAAAAAAAAAAGCTCCCAGTAAGGTCTAAATGTGCAGCCAGGGATATCAAGAGAATCAAGGAAGATGCTGAAGTTTTTAGCTCTAACTTGGAAGCTTTTGTGCTTATCATTTGCCCAGGGTTCCTAGCTGGGTATGTAGTGAGTGTGTTAAGGACACTGATGAATTGATGAGCTCAAGAATCCACGGTCCTTTGACAACTCGGAGGCTGCCACGCCTCCCTACCCACCATCATCTCCTTCTTGCCCTTGTCAGATCTCAGACTTACACCTGCCCTGCCCCGCCTGGCTGATTCTCCAGCCCCAGCCGGAGAGCCACTCACCATTTTGATGGGCCGGAAGGACATGAGCCGATCACTGCGGTAGCTTCTCGACCATGTGTTCCAGCGAGGGTACTCGCCCTTCTCCAGGATGAACATCTCCCCGCGGAAGTTGGACTGCTCAAAGGCGACCCAGCTGGATACAAGAAGGACCATGAGGCAGACAGGAGACATATGGTTAGTAGAAGCCCCCACTCCCTACTTGCCTTTCTCTCTCCCCTGGCAAGGCAGCCCTGAGGACAGTAGGAAAGTCCAAAGGGGGCTGAACATGTCTGGGTTTGATTTTAGGCTCTGACACTTACAGGCTGTGTGACTATGGGCAAGTGACTTTACCTCTCTGAGCCTTTGTTTCTCATCTACACTCATATGCCTGTTTCCTTGGAGTTGGTGAAGGATTAAGTGAGATAAATGTGTGTGATTATCTGAGCACACTGTTTCTCTAGATGTAAGGTTCATACATGCTTCAAGTACTATCAGGACTTGGAGCCAAGGAACACATAGACATTTGAAACTTGACGCCAGCTAGGAGAAAGGCTCGTTTGATGTTAATGTGCCTTTAACACTTACTAATCTCTCCTTTTTTTCTTTTGTAACAAAGAGAGAAAAGACCACTAGCCCAGAACCTCCAGCAGACAATGGTGTAATAGCAACATAATAATACCACTTTTGTGTTTATTGTTAATTTTGTATGGATACCTTTTACTTATAGGAAATAATACTAGCCTTCCATTTGTAAAAAGTGGTGTCAGGGTTCTTTTAAAATGTGTTTATTTGTGGTTAGCAGGATCATTTTAAATGAAATATATTAAATGAACGACAGTCTCGGAGGTACAGGGGTAAGGGAAAAATTGATACAGGTGTTTGCATCCTTGCTGGGTAAATACTGGCCTGGTATTCGGGAGATACTCAGTAACTAGTATGAGGCAATGGGAAGGGAATGATGGTAATATCTACCCTCAGATACCTATGGTAATATAATGTGATAGCGCTTATGAAGATGCTAGGTTCCTTACATGGACTAATTAGAAGTTTGAAATTAGATGGAAGATTTTCCTGGCTTTCCCAGTGAAGATTGATTAAGGACAAGAAGTGAGCTTGTGTTACAGGGACCAGGGATTGTGGCAGTGCAGGTGGGGTAGATAAGACAATCCCCATTCCGTAGATGAGAAAGCTGAGACTAAGGAACTCCTTGACCTTTGCTCCCCGTGTGTTCAAGAGTTCTTAGGAAAAAAGAGACGGATGAGGGGACACTGACACTAGCATCTTCTCCCAGGGGGCTGCTGGGACCCTGCTCTCCCCAGAAGGAGACAAGGATGATGGGCTATCACCATGGGCTGAGACAGAATGCATCACAGGAGCCTCAGGTCTTTGTCTGAGAGATGAGTTAACCACACTGGAGTAAATTAAAGATATGTTTGTCTTCCCAGAATAGAGTTGCATTTGCCTCAGCCCTGTCTGGTCTGGAGTAGAAGAGAAATAAATGGGAGAATAGATGGATGGATGGACAGATGAATGGGTGGATGGATGGGTGGATGAAAGGATGGTTGAATAGATGGATAGGTGGATGGGTAGATGGACAGATGAATGGATGCATGGATAAAGGGATGGATGAAGGGATGGTTGAATTGATGGATAGCTAGATGGGTAGATGGATGGGTGGGTAGATGGATAGATTTATAGATGGATGGGTGGGTGATGGAGAACACATGGTGGGTACGTGTGTATAAATGGAGAATGGATGTATGTATGGATAGATCAATAGACGAATGGGTAGATGCATGGGTAAGTAGATGGATGATGAATAAATGGGTGGATAGACGCATGGGTGAATAAGAAGGGAGCCTTGGAAGGTGGTTTCATGTAGGAGTTAAGAGGACAGACCCTGGAAACAGACAGACCTGAATTCTAATCCAAGCTTTGCCATTTGCTGCATGCATTTGGGCAGCACTTACACCTGCTAAGCTTTAGTAACAGAGAAGAAATGATACATCTACTTTGTTGCATCTACCTTGTTGGGAGATTATGAGGGCCTAAAAGAGGGAATGCATGGAACAGATACAGCACAGAGTAAGCCTCCAAATTAATACTGTTCCTGA 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Task1_train_28686 | The gene CRYBA4 (crystallin beta A4), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cataract 23 | TGTGCCCTCCTGAAGTACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAAGGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTT 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TGTGCCCTCCTGAAGTACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAATGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTT 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Task1_train_28687 | Consider this mutation in CRYBA4 (crystallin beta A4) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Cataract 23 | ACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAAGGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTTCATTCTCTGTCTTTCT 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ACTGAGGAGTGTGCAGGACTGCCATGTAAGATTATGCAGGTTGCGCACTGCCCAACAGTAGGAGGGTGCCATTTACACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAAGGGCAGCAGTACATTCCGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTTCATTCTCTGTCTTTCT 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Task1_train_28688 | This sequence variant lies in CRYBA4 (crystallin beta A4) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cataract 23 | CACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAAGGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTTCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTTCATTCTCTGTCTTTCTTTTTCTTTCTTTTTCTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCCTTCCTTCCTTCCTTCTCTCTCTCTCTTTC | CACAGACCCTGCCCACTGGATGAGGCAGTTCTGCAGGAGATCCTTAGAATCCAGTGTTGGATCTAAAAATGTCCCTCCCAGCCGTAAATTGAAAGCCAACATCACCCGCCTAAAGTAGAAGGTAACTGTAAAAATAAACATAATGTTTTAATGCTATTAATTTTTAGCTAAATAGTCTTGCTGCTAAGCATGTGGCCTGATCATTTTTTGTAAAAAAAAAAAAAATTAAAAAACAAAAAAGAGAGTGAGAGAGAGAGATTAGTGAGACACAGAGAGGTGTTAAGGACACACTAATAACACACCAAGACTTTCTAGACCAGTGTCATTCAGTGGACCTGTCTGCAATGATGGAGATGTTCTACATCTACACCATCCATTTCAGAGCCACTGGCCAGATGTGACCATTGAGGATTTGAAAGGTAGCCAGCATGAGTAGAGAACTGAATCTTGTTTAATCTTAATTTATTTAAGTTTAAATTTAATTAGCTACATATGGCCAGTGGCTACCATATTAGATAGAAGGTTCTAGAAGGTTGGAAAGCAGGTAGAAAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGCTCTAGAAGTTTGGAAAGTAGTTGGAAAGATGTGGCCAGTAGCTACCATATTGGATAGAAGTTTCTAGAAGGCAGGAAAGTAAATAGAAAGGAGGTGTGGCCAGTAGCTACCATACTGGATAAAAGTTCTAGAAGTTTGGAAAGTAGATCGAAAGGAGATGTGGCCAGTAGCTTCCATATTGGATAGAAGGTTCTAGAAGGTTGGAAAGTAGCTAGAAAGGCAATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTCTAGAAAGTTGGAAAGTAGATAGACAGGAGATGTGGCCAGTAGCTACCATATTGGATAGAAGGTTGTAGAAGTTTGGAAAGTAGATAGGAGATTTGGAGTCACTTAATGCTACACCTGTGAGTGCCACCTGAGGTCATCTTGGGTGATTTTTGCACATCTCATGCTTTAGTAAATACTCTTTTAGCTTCTGATTTGTGCAGGTGGGGAATGGGGGTCAGATGGGAACAGAGGCTTTCTAGGGGTATGTCCAGCAGGCTGACAGACTCAGCCAGTAAGCAGACAATGAGCTTGGATAGATTCAGACAGTTTATTACTTATACAGACAGTAAAGGCAAGGTGCAGCCTCCTGTGTCCCTTGTCCTACTGGACGACACCAAAACAAAGGGGGCTGAATGACAGGCATTAGGAATGGTAGGAACCCCGTGGCTGAAGAGCTGCTTCCATGCTTCAACGATAGCTTGCTGCTGTCGCCTGTGGGGAGGCGAGGTGGAAAGCCCCACATCTCAGAGTGGCCAGAGAGGCAGATGAGGGGCTGCCTCGTGGCAGCCTCCCACAAGAGAGGGAGGAAAATGAGAGATGGCCATGCGGTCGCTCCTTGCAAGACTGCCCGTCTCCCACACCCTGGCAGGATCACGGGGAATTCCACCAAGGTGAGATCAGTCTGTGATCAGCTTTGCCTCCTTGGCCTCTGTGGACACGGACGGAGGAGCAAGGTTGTCAGGGCACCTGTGTGAAGCAGTTTCCCTACCTATGGGACACACAGCAAGTGAGGTCTAGAGCTGGGTTCCTCAACTCTGGCGCTACTGATGTTTCGGGCTGGATCATCCTTTGCAGGGAAGGCTGGCCTGTGCATTATGGGATGTTTAGTGGTATCCCTGGCCTCTACCCGATAGATGGCCTTCGCAGTCCCTCCCCTAGTCGTGACAACCAAAAATGTCTCCAGCCATCGTCAAGTGTTTCCTGGGGGCACAGTCACCCCTGAATGGTTGTGACTGTGACCGTTCTAGACCCAATTGCTGGTCTAGAATGCAGGGTGAGGGGGACGCTTACCTCCTGCACACTCTACCCTCTGTCTGCAGGTGGGTGGGCTTTGAGCATGCTGGCTTCCAAGGGCAGCAGTACATTCTGGAACGAGGCGAATATCCAAGCTGGGATGCCTGGGGCGGCAACACGGCCTACCCCGCCGAGAGGCTCACCTCCTCCCGGCCTGCGGCCTGTGCTGTAAGTTCTACCACTGCTGCATCCCGGGGAGGCCCAAGCCCCTCATGTGGGCACTTCGGAATCAAAGGTTCCAGAGTTGAAATTCTCATGTCGCCACTTCAAGCTGTGTGACAAGGGCTGTTCAGTCTCTTTCCTCTCCAAGCCTCGGTTTCTTCATCTTGAAATGGGGCAATAGTACCAATGTTCTTGGGAAGAAGAACGTATAACATCTGACCAGAGCCTGCCTTAAACTCTCTGCTCACAGCAACCCTGGTTGTGATAGGAGCCCCTGCCAGTTTTGTGCCCTTTTTTTTTTGTGATTCAGGGACCCTGAGAGAATCTGGGTACCAGGGATGGTAGGGCCAAGTGGAGAGGAAAGGTTTCATTTCTTGCTCCTAATTCAGCATCAGTGCTCCTGATCTTACATTTTACTGCTGTTTTTGGAGTGTGGGTGGAGGTGGGCATTATTATTCCCATCTCACCAATGAAAACATTGAGGCTCAGAAAGGTGTATTTTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGGCCAGGAGTTCAAGATCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGTTGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGCCAGAGCAAGACTCTGTCTCAAAACAAAACAAAACAAAAAAACAAAAACAAACAAACAAACACAAAAACAACAAAGTGTGTTTTATTTTTCAATTCTTATTGATTTAAAATGACATAAGTCACCATATTTACCATCCAAAATTCTGAAGGAAAATCCTGCTATGGTCAGGGTTGAGTATCCCTTACCTGAAATGCTTGGGACCAGAAGTGTTTTGGATTTTGAATATTTTCCCCAGATTTTGCAATATTTGTAATACTTACAGTTGAGCAGCCTGAATCCAAAAATCCAAAATCTGAAATACTGCAGTGAGCATTCTTTGAGTGTCATGTCGTCACTCAAAAAGTTTTAGATTTTGGAGCATTTTGGATTTCGGATTTTTAGGTTAGGGATGTTCAACCTATACATTTGTGTCTCTATGTATATACACATCCAAATCAACATCTACATCTATATCTGTATAATCTATATATCTTATCTATATTGCACACATAATTTTGTCATAAAATTGGAATCATAATGAATCTAAGGCTTGGAAACTAGCTTTTCTCACTGAGCAAATGTGTCGCAATCATCAGTCCAGGTGATTAAATCTCACTTCCATCGTTTTTCATAGCTCCCTAGTATTCTGTTTTGTGAATAAGTCCATTTGTTCATTTATTCTGCAAACAGTCTAGATATTGTGCTAATATAGGGACCCGTGGCGGGCTGCAACAGAAACAATCCCTCATTCCCAGCAGTTTGCAACTCCTGATTTCATTTAGTCCTCAAAAGAACCCTGAAAAATGGGTAGGGTTAGTTTCATTTTATAGATACAGGAACAGAGGCTCAGAAATCCTGTCTAACCTCAGTCAGTTGGTAAGTGGCAGCTGCCTCCTAGCAGGAAGGATTTGAGATGATATCTCTACACCTCCTTTCTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCCTTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTTTCTTTCTTTCTTTCCTTCTTTCATTCTCTGTCTTTCTTTTTCTTTCTTTTTCTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCCTTCCTTCCTTCCTTCTCTCTCTCTCTTTC 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Task1_train_28689 | A mutation found in CHEK2 (checkpoint kinase 2) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bone osteosarcoma | GGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAGAGACAGGGTTTTGCCATGTTGCCCAAGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCAATGTTAAAATACACACATGTGTATTTTAAACATATGCAGAGCAAAACTTACTATTGGAACCAGGAGGTGTCAGAAAGGGTCAACATGTTTAAATCACAAGGTTGGCTATTTTGAGACAAAAACAAGTAACAAGTAGTCAACAAATGGCCATCTCTATTCTGAACAGCTCTGATTCTCTGAAGCTGTGGCAAACCACAGCAGAGGTTAACTAGTGAAGCTTTTGTGATTAGGGGATAATGTTTGCAAGTTTGAGTGAATCTGCATTTTTCTAGGAAGAGGGTCCAAAGCTACCTTCAGATCTTTGGATGGACAGCACATTGTAAATGTCCAATTATTATTTGTTGAAAGAGTAAATGAACAGAATCCACAGCAGGTAACAGCCAGGGCAACACCCAATACTGCCTCTTTGGTTTTACCTTTTATCACATTCAAACTCCAGAATTATTCTAAGAGTGGCTCAAGCATTCTGCTGCAACTAACTAAGGCAGGAAAATAGGGTCTGAAGGCAGGGAATCTATGGCCAATTCACGCAAACTTCCTGGAATAGATGGGCACGGTTGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAAGCAGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGTGTCTGTAATCCCAGCTACTCAGGAATCTGAGACAGGAGAATCGCTTGAACCCAGGAGTCAGAGGCTGCAGTGAGCCGAGCCGAGATGGCGTCACTGCACTTGTCTGTGCGACAGAGCAAGACTCCGTTGCCAAAAAAAAAAAAAAAAAAATTCCTGAAACTAAACAAAAAAGGAAGAATTTGCACTCTGGCCTATGATCCGTCCATTCTAGGACCTTCATTTGCATAAGGCGTCAATCCACACCAGTCTTGGAATGGCCGAGCTCCAATTCACTTTGGCCTCTAATGGGCTGTGAGCCAGCACTTCATTTACATAGGATGTAAACAGTGGGAGACCTCTAGAGGGTACTTGAACCCCAGAAGACTTTGCTACAAGGGCTCTGCAGCCACTTGCTCAGGCCTGCTCCCATCCTGTGACATGTACTTTAGCTTCTATTGCCTTCCACTTCAATAAATCTATGCTTTCATTGCTTGTTCATGCATGATGTTCAATTATTTGTTCAACGTGCCAAAAACCTGGACAACTCCAATCAGAACCTTCCACCTGGTAATACAACTTTCTGTAAGTGTTTTTCTGAACAAAACGTGATACTATACAACAAAGGGTCTTACCAAGATTGGCAAATCCATCCTGAAGGGCCCATAATCGAGCCCAGGGGGCAGGGGTAGGCTCCTCAGGTTCTTGGTCCTCAGGTTCTTGGTCCTCAGGAATAGAATAGAGTTCCTGAGTGGACACTGTCTCTAAGGAGCTCAGTGTCCCAGAGCTGGAGTGAGAGGACTGGCTGGAGTTTGGCATCGTGCTGGTAGAGGAGCTGGATATGCCCTGGGACTGTGAGGAGGAGCCTTGGGACTGGGTAACGCTGCCATGGGGCTGTGAACAGGCACTGCTGCCATGAGACTGCTGAGCCTCAACATCCGACTCCCGAGACATCACGACCTCAAAAAGAAAGTGTCCAACAACAAAGGTGAGTTTCAAGGCACAAGACTTAAAATTAAAAAGTAAATGATGGGCCTATTACAACAGCAAAAGAAAAGAAAAAAAAAAAAACAGGGCAAACATGCTCTCCAAAAATTAAAAGTCCTAACAGCCCAGACCTATAGTTCTTCTGGGCTGAGCTTTTCACCAGATCATTGTCACCAGATCAGTTTTTTATCTGACAGCCATAAACTACAGGGAAAAACAAATTATCTGAAGGTTACAAATAAGTAAAAAGCAATAAAATTGAGCTGGGGGGCTCATAAAAGCTTACATTTGTCCAATTCTTTTAAATTAAGACTGAAACCAAAAATGTACTGATACAATCAACACTACATTTAAATTTCATATATACAGGGGGCCAGGCGCGGGGGTTCACTCCTGTAGTCCCGCACTTTGGGAGGACAAGACGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTATTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGTGCAAGACTCCGTTTCAAAAAAAAAAACTCATATATACAGTCCTCAATTTAACAATGCTTCTATTTAACAATGTTTAGACTTTCTGTGAAAGCAATCAGTAGACACTTACTTCTCCAAGTCCTCACATAACCATTCTGGTTTTCACCTTCAGTACAGTATTCAAGTAATTACATGAGATATTTAACACCTTATTATAAAATAGGCCAGGTGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGAACTCTGGGGGGTCAAGGCAGGTAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACACAGTCAAACCCCGTGTCCACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTCAGGAGGCTGAAGCAGGAGAATTGCTCGAGCCCAGGAGGCAGAGGTTGCACTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGGAGTGAAACCCTGTCTCAAAAAAATTAATTAATTAAATAAATAAAATTTTAAAATAAAATAAAATAGGCCAGGTGCAGTGACTCACAACTGTAAACCCAATATTTCGGGTGGTGGAGGTAGGAGGATTGCTTGAGGGCAGGTGTTTGAGACCCCACCTCTACAAAAAATAATAACAATAATCTTTGTGTTAGATAATTTTGCCCAACTGTACCCTGACATAAGTGTTCTGAGCATGTTTAAAGGAGGCTAGGCTAAACTATGACGTTTGGTATCTTAGGTGTATTAAATGTAATTTCAATTTAACAATATTTTCAACTTAGAATGGTTTTATTTAGACATAATGCCATTGAAAGTTGAGGAGCATCTGTGTACTTTGGAAAGCAAAAGAAGACAAAAAATCAGGTGGCTTGATATAAAAGTCAAAAAGAAATTGTACAATAACCTGCTGCATTACTCCAAAGGGTCCATTTACATAAAATGTCACTGGTACCCCTTTTCCCCCAGGCTTGCTCCTAAAGTGAAACACACCTGTTCGTTCAATCTATATTCCCTGACACCTAAGGACCCAGTGACTTAATGAGGCAGAACACAAAGGAAGACAGCTCTTAACAACTCCACCTATCCCTTTGTGATGCTAAATAACCATAGGGCTTATCTTTTCAGCATCCTAAATGGCCTTCCGGCCTTGATGTAATCTTGCAGGAACCATTCTTTTATAAACTGGAGACCGTAACAGAGGCTTCCACCCTTGTCTTAGAATTAACCTGATAGACAGTTAGACTGTCATAACAGGCTGGGTGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGAGGACCA 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GGTATATTCCTCCATTTTTTATAGTTTTTTCAAGATATCAAAGTTAGACATGAAATAAAACAAGGATGGTGAGTGACAAAACACAAAATGATACATCAGTCCTTCATTTCTTTATATTAACATATTCTATCCTGTTAATGCCAAGTTCAAATTTGTTTATTAAAGAGGTCATTGCAATGTAAGCGAAAGGAAAAAAAACACTATTTTTTTTGGCCGGAGTGCAGTGGTGCAATCCTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGTCTCATCCTCCTGAGTAGCTGGGATTGCAGACATGCGCCACCACACCTGGCTAATTTTTGTATTTTCAGGAGAGACAGGGTTTTGCCATGTTGCCCAAGCTGGTTTCGAACTCCTGGCCTCAAGTGATCCTCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCAATGTTAAAATACACACATGTGTATTTTAAACATATGCAGAGCAAAACTTACTATTGGAACCAGGAGGTGTCAGAAAGGGTCAACATGTTTAAATCACAAGGTTGGCTATTTTGAGACAAAAACAAGTAACAAGTAGTCAACAAATGGCCATCTCTATTCTGAACAGCTCTGATTCTCTGAAGCTGTGGCAAACCACAGCAGAGGTTAACTAGTGAAGCTTTTGTGATTAGGGGATAATGTTTGCAAGTTTGAGTGAATCTGCATTTTTCTAGGAAGAGGGTCCAAAGCTACCTTCAGATCTTTGGATGGACAGCACATTGTAAATGTCCAATTATTATTTGTTGAAAGAGTAAATGAACAGAATCCACAGCAGGTAACAGCCAGGGCAACACCCAATACTGCCTCTTTGGTTTTACCTTTTATCACATTCAAACTCCAGAATTATTCTAAGAGTGGCTCAAGCATTCTGCTGCAACTAACTAAGGCAGGAAAATAGGGTCTGAAGGCAGGGAATCTATGGCCAATTCACGCAAACTTCCTGGAATAGATGGGCACGGTTGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAAGCAGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGTGTCTGTAATCCCAGCTACTCAGGAATCTGAGACAGGAGAATCGCTTGAACCCAGGAGTCAGAGGCTGCAGTGAGCCGAGCCGAGATGGCGTCACTGCACTTGTCTGTGCGACAGAGCAAGACTCCGTTGCCAAAAAAAAAAAAAAAAAAATTCCTGAAACTAAACAAAAAAGGAAGAATTTGCACTCTGGCCTATGATCCGTCCATTCTAGGACCTTCATTTGCATAAGGCGTCAATCCACACCAGTCTTGGAATGGCCGAGCTCCAATTCACTTTGGCCTCTAATGGGCTGTGAGCCAGCACTTCATTTACATAGGATGTAAACAGTGGGAGACCTCTAGAGGGTACTTGAACCCCAGAAGACTTTGCTACAAGGGCTCTGCAGCCACTTGCTCAGGCCTGCTCCCATCCTGTGACATGTACTTTAGCTTCTATTGCCTTCCACTTCAATAAATCTATGCTTTCATTGCTTGTTCATGCATGATGTTCAATTATTTGTTCAACGTGCCAAAAACCTGGACAACTCCAATCAGAACCTTCCACCTGGTAATACAACTTTCTGTAAGTGTTTTTCTGAACAAAACGTGATACTATACAACAAAGGGTCTTACCAAGATTGGCAAATCCATCCTGAAGGGCCCATAATCGAGCCCAGGGGGCAGGGGTAGGCTCCTCAGGTTCTTGGTCCTCAGGTTCTTGGTCCTCAGGAATAGAATAGAGTTCCTGAGTGGACACTGTCTCTAAGGAGCTCAGTGTCCCAGAGCTGGAGTGAGAGGACTGGCTGGAGTTTGGCATCGTGCTGGTAGAGGAGCTGGATATGCCCTGGGACTGTGAGGAGGAGCCTTGGGACTGGGTAACGCTGCCATGGGGCTGTGAACAGGAACTGCTGCCATGAGACTGCTGAGCCTCAACATCCGACTCCCGAGACATCACGACCTCAAAAAGAAAGTGTCCAACAACAAAGGTGAGTTTCAAGGCACAAGACTTAAAATTAAAAAGTAAATGATGGGCCTATTACAACAGCAAAAGAAAAGAAAAAAAAAAAAACAGGGCAAACATGCTCTCCAAAAATTAAAAGTCCTAACAGCCCAGACCTATAGTTCTTCTGGGCTGAGCTTTTCACCAGATCATTGTCACCAGATCAGTTTTTTATCTGACAGCCATAAACTACAGGGAAAAACAAATTATCTGAAGGTTACAAATAAGTAAAAAGCAATAAAATTGAGCTGGGGGGCTCATAAAAGCTTACATTTGTCCAATTCTTTTAAATTAAGACTGAAACCAAAAATGTACTGATACAATCAACACTACATTTAAATTTCATATATACAGGGGGCCAGGCGCGGGGGTTCACTCCTGTAGTCCCGCACTTTGGGAGGACAAGACGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTATTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGTGCAAGACTCCGTTTCAAAAAAAAAAACTCATATATACAGTCCTCAATTTAACAATGCTTCTATTTAACAATGTTTAGACTTTCTGTGAAAGCAATCAGTAGACACTTACTTCTCCAAGTCCTCACATAACCATTCTGGTTTTCACCTTCAGTACAGTATTCAAGTAATTACATGAGATATTTAACACCTTATTATAAAATAGGCCAGGTGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGAACTCTGGGGGGTCAAGGCAGGTAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACACAGTCAAACCCCGTGTCCACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTCAGGAGGCTGAAGCAGGAGAATTGCTCGAGCCCAGGAGGCAGAGGTTGCACTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGGAGTGAAACCCTGTCTCAAAAAAATTAATTAATTAAATAAATAAAATTTTAAAATAAAATAAAATAGGCCAGGTGCAGTGACTCACAACTGTAAACCCAATATTTCGGGTGGTGGAGGTAGGAGGATTGCTTGAGGGCAGGTGTTTGAGACCCCACCTCTACAAAAAATAATAACAATAATCTTTGTGTTAGATAATTTTGCCCAACTGTACCCTGACATAAGTGTTCTGAGCATGTTTAAAGGAGGCTAGGCTAAACTATGACGTTTGGTATCTTAGGTGTATTAAATGTAATTTCAATTTAACAATATTTTCAACTTAGAATGGTTTTATTTAGACATAATGCCATTGAAAGTTGAGGAGCATCTGTGTACTTTGGAAAGCAAAAGAAGACAAAAAATCAGGTGGCTTGATATAAAAGTCAAAAAGAAATTGTACAATAACCTGCTGCATTACTCCAAAGGGTCCATTTACATAAAATGTCACTGGTACCCCTTTTCCCCCAGGCTTGCTCCTAAAGTGAAACACACCTGTTCGTTCAATCTATATTCCCTGACACCTAAGGACCCAGTGACTTAATGAGGCAGAACACAAAGGAAGACAGCTCTTAACAACTCCACCTATCCCTTTGTGATGCTAAATAACCATAGGGCTTATCTTTTCAGCATCCTAAATGGCCTTCCGGCCTTGATGTAATCTTGCAGGAACCATTCTTTTATAAACTGGAGACCGTAACAGAGGCTTCCACCCTTGTCTTAGAATTAACCTGATAGACAGTTAGACTGTCATAACAGGCTGGGTGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGAGGACCA 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Task1_train_28690 | Consider a variant on Chromosome 22 in gene KREMEN1 (kringle containing transmembrane protein 1). Determine its clinical classification and disease relevance. | Pathogenic; Ectodermal dysplasia 13, hair/tooth type | AAACAACTCAATAGTTAAAAAAACTGAACAAAGCAATTTAAAAATGGGCAAAAGACCTGAACAGAAGATATACAGATGGCAAATAAGCATATGAAAAGAAGCCAAAGAAGATATACAGATGACAAATAAGCACATGAAAAGATAGTCATCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACCTGTAGTCCCAGTTACTCGGGAAGCTGAGACAGGACAATTGCTTGCACCTGGGAGGTGGAGGTTGCGGTGAGCCAACATCATACCACTGTACTCCAACCTGGATGACAGAGTGAGACTCTATCTGAAAAACAAAAGAAAACAAAGAAAGAAAAAGAAGATATAGTCGACATCATTAGCCATTAAGGTAATGCCAATTAAAACTAAAATGAGATATCACTACATACCTATTAAAATGGCTAAAATAAAATATACTGAAAATAACAAGTGCTGACAAGGATACAGAGCAACTGGGACTTTCATATATTGTTGGTGCAGATCTAGAATGGTAGTCATTCTGGAAAAAGTTTGGCACTTTTTTATAAAGTTAAATATACATCTACCATATGACCTAGTAATTCCATTCCTAGTTATTACCCTAGAGACATGAAAACTTATATTCACATAAAAATCAGTACACAAATGCTTATAGCAGTTCTATTCATAATTATGAATAACTAGAAACAGCCCAACAGATAAACAAGCTGTGATACATCCATACAATGAACTCTGCTCAGCAATAAGAAGGAGTAAACTATTGATACAAACACCAATTTGGATGACTCTCAAAGACATTATGCTGACTGAAAGAAGCCAGTCTCAAAAAGATTACATACTATATGATTCTATTTATGTGACATTTTCGAAAAGACAAAACTACAGTAAAGGAAAATGCGTCAGTGGTTGCCAGGGTTTCTGGGGGAGGGGGCCTATAAAGCAATAGTGCAAAGAAAATTATTGGGGTAATGGAGCTGTTCTGAATCCTGATTGTACTGGTGGTTGCACAAATCTTTTTTTTTTTTTTCTTTGAGACAGAGTCTCACTGTGTTGCCCAGGCTGCAGTGCAGTGATGCAGTCTCGGCTCACTGCAACATCCACCTCCAGGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCAAGCAGTTGGGATTACAGGTGCCCACGACCACACCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACTTTGTTGGCCAGACTGGTCTCTAACTCCTGATCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTAAGCCACCATGCCCGGCTGTGGTTACACAAATCTATACAAGTGTTAAAATTTATAGAACTATATGCCAAAATACTATATAGCAATGTAAAAACAAAATTGTAAAATGGGGCCTATAATGTGTTTGCTTTGAGGGTTAGCTATAAAGCACTCACTGCCTGGCTCATAGTAAACAGTCAATAAAATGTTTAGCTGTTACTCACATTTGAAGTTTATGAGATTTTCTCCCCCTTAAAACTTACTGAAGTGCAGTAGAAACACAAACATTAAAAAGTGATGCTCGCCGACAGGGAAACACATTGGTGGTTGCGTACTTATTGTTCAGCTTGAAATTAAGTGTTGCAAGAGTGGAAGAAGGGGGAGGTCCCAGGGGAAGGGACCCTGGGAAGTTGAGGCTGATTGCTTGCTGGAAGCCCACCCTGCCAGGCTCCTTCAGGCCATCTGACATCCCTGATGATGCTTACCGTGTGCTGCTTCTCTGTTGTGGCAGTTTGCTGGGATGGAGTCAGGCTATGCTTGCTTCTGTGGAAACAATCCTGATTACTGGAAGTACGGGGAGGCAGCCAGTACCGAATGCAACAGCGTCTGCTTCGGGGATCACACCCAACCCTGTGGTGGCGATGGCAGGATCATCCTCTTTGATAGTGAGTATGCCCTGTGCCCATCACTGCCCAAGGCACAGGAACCCTTGGACCAGAGCAACAAGCCTGCCCACCCTCCCTCCCTTCTATGTATTCATTCATTCACTTGGCAATAGACAATACTTGTGACTAGACCCTGGGAATACAGCACAGTGCATGAAGACTCAGCCCCTGCCTTCTGGAAGAGAGAACAGACACTTAAAAAGGGATTAGCTACAGTCATGCCAAACGGTTTGAAGCAACGTGGCCTATTCTGTGATGCTTAGACAACCCAGAAATGATAACCTTTCCAATTTTACATAGACACTAATATAACAATCCAGTATCAGCTTTATTATACTCTTGCTTTAATATAATTTCCAAACCCTTTTGACTGTTTTTTTTTTAGGCATTTGGGATTTATATATTATTGTGATAGACCTGAGGAGACAGCGTAGCTCTAAGTTGTTTTTTCAGGCCTGGCATTGGGTTTGCCCTGACCCACCTCCTCTCTAAACTGCCGCATTTGTGAGATACTGGCCAGGGGCAGAGTGTGTTCAGAATGGGAGTGGATCCAGGGCCTTGACCTCACCAACATCATGTTCTAACCACTGAGCCAGCTGATTCCTCATCATAATCCACCAGCATCCTCTCAGTGGCAGTGAAACTTTATGATAATTACAGCGCTGTGCAGCACCAGATTTAAAGATAGTGGAGGCAGACAAAAAAAAAAAAAGGCTCGAGATTACCAAGAAATATTGTAGTGTCTGTGGTGTCTTTGGCCTTTAGGCTAGAGGAGGTGCGCTACTGGCATCTCAACCAGGCAGCATGGCTAGTTTTGAGCAAAAATGACATATGGTTTATTAGTTTCCTAGGACTGCCATAACAGATTATCACCAACTGGGTGGCTTAAAACAACAAACATTCATTCTCTGACAGTTCTGGAGGCTAGAAATCCAAAATCGAGGTGTCAGCAGGGCTGTGCTCTCTCCAAAGTCTCCAGGGAAGCCCTCCTCACTTCTGGTGGTTGTCGGCGATCCTTGGCATTTGTTGGCTGCACCACTCCAGTCTCTGCCTTCTCTTTCACATGGCCATCTTCCCTCTGTGTGTGTCTGTGTGTCTATGTCTCTGTGTGTCTCCTTAAAAGGAACCAATCATTGGATTTAGGGCCCACCTTAATTTAGTATAGCCTCATCTTAACTCGGTTACATAACATTCACAGGTACCAGGTGTTAGGACTCGAACTTATCTTTCTAGGGGACACAATTCAGCCACTATATATATGGTGACTATAAAACCCAGCCAAGGTTTATAACTGAGCCTTTTACATGTTATAGCTTAGATATTATCTAAAGTGTGTTTGTATTTGGGGTGGGAAGACAGGATTAGTGAACAGAACTTACAGTCAATTGGTTTTTTTAGCTAAGTGTGCCCATTGGAGACTGCCAGTTGATTCCTATACATCCTGTTATGTCCAGACCAATGCTTAGTTTGATACCTTTGTTTTGGCTAAAGACTGAACTTTGGCTAATGATTAACGAATCTTGCTAATGCTTAGTTGGCAAATAACTACCCACTGCACATCTATTTAACCTTTTATTCTAGAGTTCATTATTATAAGATTCTCTGCCTTAACACTGTAACTCAGGAGAGTAAGTTTTCTGAACTTGCAGAATGCCTGGTATACTCTTAAGTGAAAAAACAAAGGAAATGTTTCTTGAGTACCTAGTATGCATGAAGGCCTTATCTAAATTATCACATTCGGTTCTCTTGGCACCCTTCTGAAGTAGGGGTTATTGTGATTACTCTCATTTCACAGAAGACAGCCACATGACATGGACAGGATAAATAACTTGCTGGGATTCATACTGCTAAGAAACCACTAGAGAGGTGCTAGAGAGGAAAGAGGAGTAGTGTGAGGGTTTACTACCTGTTTTTTGACTTTAAATAGAATGCAGTGTCAATTAAAAAATGGAAAATGAGTGTCCACAGATATATGGAGAAATTGGAACCCTCATACATTGCTGGTGGGAATGTAAAATGGTGCAGCTGCTTTGGAAAACAGT 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AAACAACTCAATAGTTAAAAAAACTGAACAAAGCAATTTAAAAATGGGCAAAAGACCTGAACAGAAGATATACAGATGGCAAATAAGCATATGAAAAGAAGCCAAAGAAGATATACAGATGACAAATAAGCACATGAAAAGATAGTCATCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACCTGTAGTCCCAGTTACTCGGGAAGCTGAGACAGGACAATTGCTTGCACCTGGGAGGTGGAGGTTGCGGTGAGCCAACATCATACCACTGTACTCCAACCTGGATGACAGAGTGAGACTCTATCTGAAAAACAAAAGAAAACAAAGAAAGAAAAAGAAGATATAGTCGACATCATTAGCCATTAAGGTAATGCCAATTAAAACTAAAATGAGATATCACTACATACCTATTAAAATGGCTAAAATAAAATATACTGAAAATAACAAGTGCTGACAAGGATACAGAGCAACTGGGACTTTCATATATTGTTGGTGCAGATCTAGAATGGTAGTCATTCTGGAAAAAGTTTGGCACTTTTTTATAAAGTTAAATATACATCTACCATATGACCTAGTAATTCCATTCCTAGTTATTACCCTAGAGACATGAAAACTTATATTCACATAAAAATCAGTACACAAATGCTTATAGCAGTTCTATTCATAATTATGAATAACTAGAAACAGCCCAACAGATAAACAAGCTGTGATACATCCATACAATGAACTCTGCTCAGCAATAAGAAGGAGTAAACTATTGATACAAACACCAATTTGGATGACTCTCAAAGACATTATGCTGACTGAAAGAAGCCAGTCTCAAAAAGATTACATACTATATGATTCTATTTATGTGACATTTTCGAAAAGACAAAACTACAGTAAAGGAAAATGCGTCAGTGGTTGCCAGGGTTTCTGGGGGAGGGGGCCTATAAAGCAATAGTGCAAAGAAAATTATTGGGGTAATGGAGCTGTTCTGAATCCTGATTGTACTGGTGGTTGCACAAATCTTTTTTTTTTTTTTCTTTGAGACAGAGTCTCACTGTGTTGCCCAGGCTGCAGTGCAGTGATGCAGTCTCGGCTCACTGCAACATCCACCTCCAGGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCAAGCAGTTGGGATTACAGGTGCCCACGACCACACCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACTTTGTTGGCCAGACTGGTCTCTAACTCCTGATCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTAAGCCACCATGCCCGGCTGTGGTTACACAAATCTATACAAGTGTTAAAATTTATAGAACTATATGCCAAAATACTATATAGCAATGTAAAAACAAAATTGTAAAATGGGGCCTATAATGTGTTTGCTTTGAGGGTTAGCTATAAAGCACTCACTGCCTGGCTCATAGTAAACAGTCAATAAAATGTTTAGCTGTTACTCACATTTGAAGTTTATGAGATTTTCTCCCCCTTAAAACTTACTGAAGTGCAGTAGAAACACAAACATTAAAAAGTGATGCTCGCCGACAGGGAAACACATTGGTGGTTGCGTACTTATTGTTCAGCTTGAAATTAAGTGTTGCAAGAGTGGAAGAAGGGGGAGGTCCCAGGGGAAGGGACCCTGGGAAGTTGAGGCTGATTGCTTGCTGGAAGCCCACCCTGCCAGGCTCCTTCAGGCCATCTGACATCCCTGATGATGCTTACCGTGTGCTGCTTCTCTGTTGTGGCAGTTTGCTGGGATGGAGTCAGGCTATGCTTGCTTCTGTGGAAACAATCCTGATTACTGGAAGTACGGGGAGGCAGCCAGTACCGAATGCAACAGCGTCTGCTTCGGGGATCACACCCAACCCTGTGGTGGCGATGGCAGGATCATCCTCTCTGATAGTGAGTATGCCCTGTGCCCATCACTGCCCAAGGCACAGGAACCCTTGGACCAGAGCAACAAGCCTGCCCACCCTCCCTCCCTTCTATGTATTCATTCATTCACTTGGCAATAGACAATACTTGTGACTAGACCCTGGGAATACAGCACAGTGCATGAAGACTCAGCCCCTGCCTTCTGGAAGAGAGAACAGACACTTAAAAAGGGATTAGCTACAGTCATGCCAAACGGTTTGAAGCAACGTGGCCTATTCTGTGATGCTTAGACAACCCAGAAATGATAACCTTTCCAATTTTACATAGACACTAATATAACAATCCAGTATCAGCTTTATTATACTCTTGCTTTAATATAATTTCCAAACCCTTTTGACTGTTTTTTTTTTAGGCATTTGGGATTTATATATTATTGTGATAGACCTGAGGAGACAGCGTAGCTCTAAGTTGTTTTTTCAGGCCTGGCATTGGGTTTGCCCTGACCCACCTCCTCTCTAAACTGCCGCATTTGTGAGATACTGGCCAGGGGCAGAGTGTGTTCAGAATGGGAGTGGATCCAGGGCCTTGACCTCACCAACATCATGTTCTAACCACTGAGCCAGCTGATTCCTCATCATAATCCACCAGCATCCTCTCAGTGGCAGTGAAACTTTATGATAATTACAGCGCTGTGCAGCACCAGATTTAAAGATAGTGGAGGCAGACAAAAAAAAAAAAAGGCTCGAGATTACCAAGAAATATTGTAGTGTCTGTGGTGTCTTTGGCCTTTAGGCTAGAGGAGGTGCGCTACTGGCATCTCAACCAGGCAGCATGGCTAGTTTTGAGCAAAAATGACATATGGTTTATTAGTTTCCTAGGACTGCCATAACAGATTATCACCAACTGGGTGGCTTAAAACAACAAACATTCATTCTCTGACAGTTCTGGAGGCTAGAAATCCAAAATCGAGGTGTCAGCAGGGCTGTGCTCTCTCCAAAGTCTCCAGGGAAGCCCTCCTCACTTCTGGTGGTTGTCGGCGATCCTTGGCATTTGTTGGCTGCACCACTCCAGTCTCTGCCTTCTCTTTCACATGGCCATCTTCCCTCTGTGTGTGTCTGTGTGTCTATGTCTCTGTGTGTCTCCTTAAAAGGAACCAATCATTGGATTTAGGGCCCACCTTAATTTAGTATAGCCTCATCTTAACTCGGTTACATAACATTCACAGGTACCAGGTGTTAGGACTCGAACTTATCTTTCTAGGGGACACAATTCAGCCACTATATATATGGTGACTATAAAACCCAGCCAAGGTTTATAACTGAGCCTTTTACATGTTATAGCTTAGATATTATCTAAAGTGTGTTTGTATTTGGGGTGGGAAGACAGGATTAGTGAACAGAACTTACAGTCAATTGGTTTTTTTAGCTAAGTGTGCCCATTGGAGACTGCCAGTTGATTCCTATACATCCTGTTATGTCCAGACCAATGCTTAGTTTGATACCTTTGTTTTGGCTAAAGACTGAACTTTGGCTAATGATTAACGAATCTTGCTAATGCTTAGTTGGCAAATAACTACCCACTGCACATCTATTTAACCTTTTATTCTAGAGTTCATTATTATAAGATTCTCTGCCTTAACACTGTAACTCAGGAGAGTAAGTTTTCTGAACTTGCAGAATGCCTGGTATACTCTTAAGTGAAAAAACAAAGGAAATGTTTCTTGAGTACCTAGTATGCATGAAGGCCTTATCTAAATTATCACATTCGGTTCTCTTGGCACCCTTCTGAAGTAGGGGTTATTGTGATTACTCTCATTTCACAGAAGACAGCCACATGACATGGACAGGATAAATAACTTGCTGGGATTCATACTGCTAAGAAACCACTAGAGAGGTGCTAGAGAGGAAAGAGGAGTAGTGTGAGGGTTTACTACCTGTTTTTTGACTTTAAATAGAATGCAGTGTCAATTAAAAAATGGAAAATGAGTGTCCACAGATATATGGAGAAATTGGAACCCTCATACATTGCTGGTGGGAATGTAAAATGGTGCAGCTGCTTTGGAAAACAGT 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Task1_train_28691 | A variant has been detected on Chromosome 22 in AP1B1 (adaptor related protein complex 1 subunit beta 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | AAGCCGGTAGCATGCCCCCCTCAGCTGTGAAAACCAAAGTATCTCCAGACACCACCAAATATCCCTCAGGGGGGCAAAGCTGCCACTTTGGTTAAGCTATTCTGGGTTAAGCTATTTGAGACTTCCTGCATGGTGACAGGTCAGTTTCCTTTGAGAGCCCCCATTCCCAGCAGAAGAGGCTCCCCGAGGGGTACGCATGGACGTGCGTGTGGTGACCTCAGTACCTTTTCTGCACGATGAGATTGATGTTGCGCAGGGCCACATACTGCAGCTCTGGCTCGGCTGACAGCAGTGTGACCAGGGGTGGGGCCAGCTTCTTGAGCAGTGTGCCGTAGTAGTCCAAGTCCTTAGACAACATCTCCATGAACTTCATCAGCACCTTCACAGCAGAGAGCACCACAGCGGAGTTGGCATGGGAGAGCCTGGGGGTGACCCGCTCACAGATGCTGGGGTCCGTCCATTCCAACGGGGCAAACAGGAAAGACAAGGGGAAACATTCTGTTTTTAGTTACCAAAATAGCATGTCCAGGCCAGGCGTGATAGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATGGTAAAACTTTGTCTCTACCAAAAAATATAAAAATTAGCTGGGCATGGTGGTAAGCACCTGTAGTCCCAGGTACTCAGGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCGAAAAAAAAAAAAATAGCATGTTCAGCCTGGGCAAAATCATGAGACCCTTCTCTACTAAAAATAATTTTACACATTAGCTGAGTATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGACGCAGGAGGACTGCTTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTGAGACTGTGACACTGCACTCTGGCCTGGGCAACAGAGCGAGACCCTGTCATAAACAAACAAACAAACAAACATGTTTTTTGTAGGAGAAAGATCTAAATCTTGGTTCTGCTGCTTGATAACCCCTAGCAGGTTCAAATCACTCTGAGCCTCAGTTTCTTCATTTATAGAATCAAGATGATGATGCCTACTTCACAGGGTTGCTAGGGGCTTAACTGACACAACGCATGTAAAGAACAAGGCTGGGTGAGGCTGAGATGGGTGGATTGCTTGATCCCAGGAGTTTGAGACCAGTCTGGGCAACATGGAGAAAACCTGTCTCTATACAAAATATAAAAATTAGCTGCTCATGTTGGCATGCAGATGTCTGTAGTCCCAGCTACCTGGGAGAATTGATTGAGCCCTGCAGGTTGGGGCTGCAGCTCCAGCCTGCAGAACAGAGACCCTGCCAAAAAAAAAAAAAAAAAGAACAAGCACAGTACTGGCATGTAGTACATACTGTATAGATGGCAACTCCTCACTTCCTCCGACTTGGAGGGTATCTTGTTGGTTAAGACCATGAGTCAGGTGAGCCCCAGCCAGGGGACCTGCACTATTCCCTCCACCTCTCTAAGCTGGAGCTCCCTCATCTGGAAAGTGGGGGATGATGATAAAAGTTGCATTAAAGACTCTAAAGTGTGGAAAGCACCCGGCAGAGCCCCAGACACCCAGTGAGAATTCAATGAGCAGTGGCTCTGGCGCTACCCACCTATTGAACTCAAAAGAGGTGCCCTGGGCTTCTGCCAGCTCCAAGGCCAGGCCATGCGTATGCCCATAGCTGCCCAAGGCAACTCTCCTGTCTACCTGGCTCTGGAGAGGTGGGAAGCAGGCAGGCCTCCCTTTAGGTGTGTCTGAGGGTGGGTTATGGGGCAAAGCACTAGAAAGGGGCCCACTAAGGCCCAAGGCCCAGTGCCTGGTTGGAGCCCCTGAGGACCAGGGTCCTCAAGCTGGGCTGGCAAGCAACGGGCAGCCCGCTCACCTCTGGGCCTCGCGGTCGTCCTTGGGCATATAGTTGGCGAGGCAGTCCAGGATGAAGATCTGGCCCCACTCGGTGCACTCATTGAGGGCTGTCAGCAGCTTGTTGATGGACTGTGGGTTCAGATCGAGCAGGTTGCTGCTGGGGTGAGACTCGGCAATTTCTGAGAGCGCTGCCACTGCATTGGCCACCACCTGGTTGAGAGGGTGGGAGGGGCAGAGGCTGGGGGTGCTGCTCACAGGCCAGGGGGCAGTGCATTAATGATGCTGGCTGGTCAGAGGTCAAATATCCTGAAAGGAATATGACCCAATGGGCAGGGTCTGGAGCTGCAACGAGACCCACTCCAAGCACTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTA 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AAGCCGGTAGCATGCCCCCCTCAGCTGTGAAAACCAAAGTATCTCCAGACACCACCAAATATCCCTCAGGGGGGCAAAGCTGCCACTTTGGTTAAGCTATTCTGGGTTAAGCTATTTGAGACTTCCTGCATGGTGACAGGTCAGTTTCCTTTGAGAGCCCCCATTCCCAGCAGAAGAGGCTCCCCGAGGGGTACGCATGGACGTGCGTGTGGTGACCTCAGTACCTTTTCTGCACGATGAGATTGATGTTGCGCAGGGCCACATACTGCAGCTCTGGCTCGGCTGACAGCAGTGTGACCAGGGGTGGGGCCAGCTTCTTGAGCAGTGTGCCGTAGTAGTCCAAGTCCTTAGACAACATCTCCATGAACTTCATCAGCACCTTCACAGCAGAGAGCACCACAGCGGAGTTGGCATGGGAGAGCCTGGGGGTGACCCGCTCACAGATGCTGGGGTCCGTCCATTCCAACGGGGCAAACAGGAAAGACAAGGGGAAACATTCTGTTTTTAGTTACCAAAATAGCATGTCCAGGCCAGGCGTGATAGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACAAGCCTGGCCAACATGGTAAAACTTTGTCTCTACCAAAAAATATAAAAATTAGCTGGGCATGGTGGTAAGCACCTGTAGTCCCAGGTACTCAGGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCGAAAAAAAAAAAAATAGCATGTTCAGCCTGGGCAAAATCATGAGACCCTTCTCTACTAAAAATAATTTTACACATTAGCTGAGTATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGACGCAGGAGGACTGCTTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTGAGACTGTGACACTGCACTCTGGCCTGGGCAACAGAGCGAGACCCTGTCATAAACAAACAAACAAACAAACATGTTTTTTGTAGGAGAAAGATCTAAATCTTGGTTCTGCTGCTTGATAACCCCTAGCAGGTTCAAATCACTCTGAGCCTCAGTTTCTTCATTTATAGAATCAAGATGATGATGCCTACTTCACAGGGTTGCTAGGGGCTTAACTGACACAACGCATGTAAAGAACAAGGCTGGGTGAGGCTGAGATGGGTGGATTGCTTGATCCCAGGAGTTTGAGACCAGTCTGGGCAACATGGAGAAAACCTGTCTCTATACAAAATATAAAAATTAGCTGCTCATGTTGGCATGCAGATGTCTGTAGTCCCAGCTACCTGGGAGAATTGATTGAGCCCTGCAGGTTGGGGCTGCAGCTCCAGCCTGCAGAACAGAGACCCTGCCAAAAAAAAAAAAAAAAAGAACAAGCACAGTACTGGCATGTAGTACATACTGTATAGATGGCAACTCCTCACTTCCTCCGACTTGGAGGGTATCTTGTTGGTTAAGACCATGAGTCAGGTGAGCCCCAGCCAGGGGACCTGCACTATTCCCTCCACCTCTCTAAGCTGGAGCTCCCTCATCTGGAAAGTGGGGGATGATGATAAAAGTTGCATTAAAGACTCTAAAGTGTGGAAAGCACCCGGCAGAGCCCCAGACACCCAGTGAGAATTCAATGAGCAGTGGCTCTGGCGCTACCCACCTATTGAACTCAAAAGAGGTGCCCTGGGCTTCTGCCAGCTCCAAGGCCAGGCCATGCGTATGCCCATAGCTGCCCAAGGCAACTCTCCTGTCTACCTGGCTCTGGAGAGGTGGGAAGCAGGCAGGCCTCCCTTTAGGTGTGTCTGAGGGTGGGTTATGGGGCAAAGCACTAGAAAGGGGCCCACTAAGGCCCAAGGCCCAGTGCCTGGTTGGAGCCCCTGAGGACCAGGGTCCTCAAGCTGGGCTGGCAAGCAACGGGCAGCCCGCTCACCTCTGGGCCTCGCGGTCGTCCTTGGGCATATAGTTGGCGAGGCAGTCCGGGATGAAGATCTGGCCCCACTCGGTGCACTCATTGAGGGCTGTCAGCAGCTTGTTGATGGACTGTGGGTTCAGATCGAGCAGGTTGCTGCTGGGGTGAGACTCGGCAATTTCTGAGAGCGCTGCCACTGCATTGGCCACCACCTGGTTGAGAGGGTGGGAGGGGCAGAGGCTGGGGGTGCTGCTCACAGGCCAGGGGGCAGTGCATTAATGATGCTGGCTGGTCAGAGGTCAAATATCCTGAAAGGAATATGACCCAATGGGCAGGGTCTGGAGCTGCAACGAGACCCACTCCAAGCACTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTA 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Task1_train_28692 | A mutation found in AP1B1 (adaptor related protein complex 1 subunit beta 1) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | CTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTAGTCAGAGGGTGAGGAGAAGGGAATCTAGGTCTAGCTCCCTCCAGAGAGGGTGCCTGAACCACCAAAAGGCACAAGAACAACTGGCACCCCCAGCCAGGCTCCGACTTCTAGGTACTCAGGACTGCCTGGTGAAGAGTCAAGCCAATGTCTTCCCAAGCAACCCAGGAGGTGGTGGAGGTAGCACGGTGGGTGGCAGTGGCTTACCATGGGGTTAGAGTCGGAGATGAGGTCTTTAAGGGTGTCCAGGAAGCCCTGGTCCTCCACCAGCTGGGCGTTGATGTCGTGGAGCTTGGCCACGCACACAGCTGCTGTCTTGCGCACATATGGATCCTCGTCCTTCAGGCACTTCCGGAGTGGCTCGCACAGGTACTCTGTGATCTTGTCAACGCGGATGCAGCCCATGGTCCGCACTGCCAGGGCTCGGATGAGGGGGTTGGGGTCCTCACAGTCCTGGGGGGAACCAGCCATCGGCCAGGGCAGGGGTGGGATGAGCCATCTGTGGCTTCATATTCTCCCTGGCCTGCAGCTCTGAGCCCTGCTAGGCTGAGCGACATCAGATGGCTGCTGTGGATCTTCACCAACTACAGCCAACAACAGCAAAAGTAAATGCTATATAACCAGCACCCATGCCAGCTCTGCACACCATCTCCTCTGATCCTCACAGTAGAAATACAATACGGGTCCCATTTTATAGATGATGAAACTGAGGCTCTCAGAAAGGCTAGGAGCTCATCTGAAGCCACAGAGCAGAGCCGTGATTCAAACCCACATCCACCTAGCATCACAGCCCTCGGTCTTTCCACTGGGCCACAGAAGCCTCATTTCCCCATATCCGAGCACGGACAGGACTCAGGGGAGCTAAGGTTCTAAAGGTATACAAATTCAGAGGTACTGAACATTAGGAGAAAATAAAATTAAAATATAGGTGCACAGAGCTGACAATTTAATCTGAAGGACAGAAAATGGAGAAAGCAGCAGTCTGTAAGGGCAACAGAGAAGCTCTCGGGCACCTGCTGATTCCTGCCCTAGCAAAGCATGCAGGGCAGGGTCCAATCAGGGCAGTGAGGGGATCAACAGGCCTGGCAGGACCTCACACAGGATGAGTTACGCAGGGTCCTTAGCATCTGATTTTCTGGAGAGTGGGAGCCCTCTGCTGGAGGAAGAGGCCTGCAGGCTGGGCGGGCGCGGGCAGTCTGAAGGTCTGGACTCCATCCAGTGCCACAGGGCCCCGCCCCAAAGAGACTGAGGGGAGACAGAGCCTTAAGCACCCAATGTCCCCACGCCCACCAAGCGTCTGCTCACCTTCACAAAGGTGTTGACGGCCATAATGGCCATGTCAGGCTGACTCTTGGCGTAATTCATCAAGTAGAGGTATACTAGCTTCTTCAGCTCCAGGTTGTCCGTCTGCATGCAGTTGACCACATCGGGGAAGAGGGCACTGGAAGGTCAAAATGGTGTCAGCATGGGAAAGGCTGAACAAAGGAAGAGGAAGATTTTCAGGCTGCTAACTAGTGGGTGAGAGGACAGTGGGTAGGAGAGAAAGGAGAGACACACTGGACTTCCTGGTAAAAGGGAGGGTTTCAGGTCTGCTGTTAACAATCAACACCTATTGATAGAAAGGGAATCCCAAAGGGTAATTTTAAAAGCAGGAAAGTCCTTGATTCTTTTCATATAGTTCAAACATGAGTTCTGGAGCCCATCAAACCCACCACTGCCTCTTGCTAGCTATATGACATTGGAGAAATTCCTTTGTCACCTGCCCCCTCGCCCTGAGTCTCAATTTTCTAACTTCCAAGAAAGACGCAACAGAAACTCACTTCACAGGGCCTTTATGATAACTGAATGAGACAACATACTTAGGTATCTGGTCCTTGATATCTGGGAGATGCTGAGTAAATGAAAATGATCCTTTCTCCCTCTCTGATACTTAATGTGGCCCCTTACATTGGGCTGCTGGTTCTGGAGGGTCGCAGGGAAGCAGGATGGCTCATGCTGCTTTCTCCACAAGCTCTGGCACCCGGTAAGAACCAGCACAGCATGCATGGAGCACACACCATACACCAGGCTTGGTGCTAAGAGCTTTACATGCTTGATCTCATTTAACTGCCCTCAGAAGTCAGGGGATGATCCCCATTTCAGAGAACACTGAGGTTCATAAATGTCAAATAACCTGCCTGGAGGAATCAGGTCTGAGAACAAGGTCCGTGCTCATGACCACTGGGTGGAACCCTTCTCAACATGGTACCCGTGGTCCCAGAGTCACAGGCCTTCTTAAGATGTGAAATTTGGTTAGAGATCAATTTTCTATCTCTGAAATCATCATATCCCCTCTCAATTCTTATGTGTT 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CTCACCCTGCTGACTCCTCTGCAAACTGGAACAAAACAAGTGTGCCTGCCATTTAGAAAAACAAGAAAGACCTAGCTCCAAGGGCTTAGCCACAGAAAGCATTCTCAGCTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTAGTCAGAGGGTGAGGAGAAGGGAATCTAGGTCTAGCTCCCTCCAGAGAGGGTGCCTGAACCACCAAAAGGCACAAGAACAACTGGCACCCCCAGCCAGGCTCCGACTTCTAGGTACTCAGGACTGCCTGGTGAAGAGTCAAGCCAATGTCTTCCCAAGCAACCCAGGAGGTGGTGGAGGTAGCACGGTGGGTGGCAGTGGCTTACCATGGGGTTAGAGTCGGAGATGAGGTCTTTAAGGGTGTCCAGGAAGCCCTGGTCCTCCACCAGCTGGGCGTTGATGTCGTGGAGCTTGGCCACGCGCACAGCTGCTGTCTTGCGCACATATGGATCCTCGTCCTTCAGGCACTTCCGGAGTGGCTCGCACAGGTACTCTGTGATCTTGTCAACGCGGATGCAGCCCATGGTCCGCACTGCCAGGGCTCGGATGAGGGGGTTGGGGTCCTCACAGTCCTGGGGGGAACCAGCCATCGGCCAGGGCAGGGGTGGGATGAGCCATCTGTGGCTTCATATTCTCCCTGGCCTGCAGCTCTGAGCCCTGCTAGGCTGAGCGACATCAGATGGCTGCTGTGGATCTTCACCAACTACAGCCAACAACAGCAAAAGTAAATGCTATATAACCAGCACCCATGCCAGCTCTGCACACCATCTCCTCTGATCCTCACAGTAGAAATACAATACGGGTCCCATTTTATAGATGATGAAACTGAGGCTCTCAGAAAGGCTAGGAGCTCATCTGAAGCCACAGAGCAGAGCCGTGATTCAAACCCACATCCACCTAGCATCACAGCCCTCGGTCTTTCCACTGGGCCACAGAAGCCTCATTTCCCCATATCCGAGCACGGACAGGACTCAGGGGAGCTAAGGTTCTAAAGGTATACAAATTCAGAGGTACTGAACATTAGGAGAAAATAAAATTAAAATATAGGTGCACAGAGCTGACAATTTAATCTGAAGGACAGAAAATGGAGAAAGCAGCAGTCTGTAAGGGCAACAGAGAAGCTCTCGGGCACCTGCTGATTCCTGCCCTAGCAAAGCATGCAGGGCAGGGTCCAATCAGGGCAGTGAGGGGATCAACAGGCCTGGCAGGACCTCACACAGGATGAGTTACGCAGGGTCCTTAGCATCTGATTTTCTGGAGAGTGGGAGCCCTCTGCTGGAGGAAGAGGCCTGCAGGCTGGGCGGGCGCGGGCAGTCTGAAGGTCTGGACTCCATCCAGTGCCACAGGGCCCCGCCCCAAAGAGACTGAGGGGAGACAGAGCCTTAAGCACCCAATGTCCCCACGCCCACCAAGCGTCTGCTCACCTTCACAAAGGTGTTGACGGCCATAATGGCCATGTCAGGCTGACTCTTGGCGTAATTCATCAAGTAGAGGTATACTAGCTTCTTCAGCTCCAGGTTGTCCGTCTGCATGCAGTTGACCACATCGGGGAAGAGGGCACTGGAAGGTCAAAATGGTGTCAGCATGGGAAAGGCTGAACAAAGGAAGAGGAAGATTTTCAGGCTGCTAACTAGTGGGTGAGAGGACAGTGGGTAGGAGAGAAAGGAGAGACACACTGGACTTCCTGGTAAAAGGGAGGGTTTCAGGTCTGCTGTTAACAATCAACACCTATTGATAGAAAGGGAATCCCAAAGGGTAATTTTAAAAGCAGGAAAGTCCTTGATTCTTTTCATATAGTTCAAACATGAGTTCTGGAGCCCATCAAACCCACCACTGCCTCTTGCTAGCTATATGACATTGGAGAAATTCCTTTGTCACCTGCCCCCTCGCCCTGAGTCTCAATTTTCTAACTTCCAAGAAAGACGCAACAGAAACTCACTTCACAGGGCCTTTATGATAACTGAATGAGACAACATACTTAGGTATCTGGTCCTTGATATCTGGGAGATGCTGAGTAAATGAAAATGATCCTTTCTCCCTCTCTGATACTTAATGTGGCCCCTTACATTGGGCTGCTGGTTCTGGAGGGTCGCAGGGAAGCAGGATGGCTCATGCTGCTTTCTCCACAAGCTCTGGCACCCGGTAAGAACCAGCACAGCATGCATGGAGCACACACCATACACCAGGCTTGGTGCTAAGAGCTTTACATGCTTGATCTCATTTAACTGCCCTCAGAAGTCAGGGGATGATCCCCATTTCAGAGAACACTGAGGTTCATAAATGTCAAATAACCTGCCTGGAGGAATCAGGTCTGAGAACAAGGTCCGTGCTCATGACCACTGGGTGGAACCCTTCTCAACATGGTACCCGTGGTCCCAGAGTCACAGGCCTTCTTAAGATGTGAAATTTGGTTAGAGATCAATTTTCTATCTCTGAAATCATCATATCCCCTCTCAATTCTTATGTGTT 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Task1_train_28693 | Given this variant in gene AP1B1 (adaptor related protein complex 1 subunit beta 1) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive keratitis-ichthyosis-deafness syndrome | CTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTAGTCAGAGGGTGAGGAGAAGGGAATCTAGGTCTAGCTCCCTCCAGAGAGGGTGCCTGAACCACCAAAAGGCACAAGAACAACTGGCACCCCCAGCCAGGCTCCGACTTCTAGGTACTCAGGACTGCCTGGTGAAGAGTCAAGCCAATGTCTTCCCAAGCAACCCAGGAGGTGGTGGAGGTAGCACGGTGGGTGGCAGTGGCTTACCATGGGGTTAGAGTCGGAGATGAGGTCTTTAAGGGTGTCCAGGAAGCCCTGGTCCTCCACCAGCTGGGCGTTGATGTCGTGGAGCTTGGCCACGCACACAGCTGCTGTCTTGCGCACATATGGATCCTCGTCCTTCAGGCACTTCCGGAGTGGCTCGCACAGGTACTCTGTGATCTTGTCAACGCGGATGCAGCCCATGGTCCGCACTGCCAGGGCTCGGATGAGGGGGTTGGGGTCCTCACAGTCCTGGGGGGAACCAGCCATCGGCCAGGGCAGGGGTGGGATGAGCCATCTGTGGCTTCATATTCTCCCTGGCCTGCAGCTCTGAGCCCTGCTAGGCTGAGCGACATCAGATGGCTGCTGTGGATCTTCACCAACTACAGCCAACAACAGCAAAAGTAAATGCTATATAACCAGCACCCATGCCAGCTCTGCACACCATCTCCTCTGATCCTCACAGTAGAAATACAATACGGGTCCCATTTTATAGATGATGAAACTGAGGCTCTCAGAAAGGCTAGGAGCTCATCTGAAGCCACAGAGCAGAGCCGTGATTCAAACCCACATCCACCTAGCATCACAGCCCTCGGTCTTTCCACTGGGCCACAGAAGCCTCATTTCCCCATATCCGAGCACGGACAGGACTCAGGGGAGCTAAGGTTCTAAAGGTATACAAATTCAGAGGTACTGAACATTAGGAGAAAATAAAATTAAAATATAGGTGCACAGAGCTGACAATTTAATCTGAAGGACAGAAAATGGAGAAAGCAGCAGTCTGTAAGGGCAACAGAGAAGCTCTCGGGCACCTGCTGATTCCTGCCCTAGCAAAGCATGCAGGGCAGGGTCCAATCAGGGCAGTGAGGGGATCAACAGGCCTGGCAGGACCTCACACAGGATGAGTTACGCAGGGTCCTTAGCATCTGATTTTCTGGAGAGTGGGAGCCCTCTGCTGGAGGAAGAGGCCTGCAGGCTGGGCGGGCGCGGGCAGTCTGAAGGTCTGGACTCCATCCAGTGCCACAGGGCCCCGCCCCAAAGAGACTGAGGGGAGACAGAGCCTTAAGCACCCAATGTCCCCACGCCCACCAAGCGTCTGCTCACCTTCACAAAGGTGTTGACGGCCATAATGGCCATGTCAGGCTGACTCTTGGCGTAATTCATCAAGTAGAGGTATACTAGCTTCTTCAGCTCCAGGTTGTCCGTCTGCATGCAGTTGACCACATCGGGGAAGAGGGCACTGGAAGGTCAAAATGGTGTCAGCATGGGAAAGGCTGAACAAAGGAAGAGGAAGATTTTCAGGCTGCTAACTAGTGGGTGAGAGGACAGTGGGTAGGAGAGAAAGGAGAGACACACTGGACTTCCTGGTAAAAGGGAGGGTTTCAGGTCTGCTGTTAACAATCAACACCTATTGATAGAAAGGGAATCCCAAAGGGTAATTTTAAAAGCAGGAAAGTCCTTGATTCTTTTCATATAGTTCAAACATGAGTTCTGGAGCCCATCAAACCCACCACTGCCTCTTGCTAGCTATATGACATTGGAGAAATTCCTTTGTCACCTGCCCCCTCGCCCTGAGTCTCAATTTTCTAACTTCCAAGAAAGACGCAACAGAAACTCACTTCACAGGGCCTTTATGATAACTGAATGAGACAACATACTTAGGTATCTGGTCCTTGATATCTGGGAGATGCTGAGTAAATGAAAATGATCCTTTCTCCCTCTCTGATACTTAATGTGGCCCCTTACATTGGGCTGCTGGTTCTGGAGGGTCGCAGGGAAGCAGGATGGCTCATGCTGCTTTCTCCACAAGCTCTGGCACCCGGTAAGAACCAGCACAGCATGCATGGAGCACACACCATACACCAGGCTTGGTGCTAAGAGCTTTACATGCTTGATCTCATTTAACTGCCCTCAGAAGTCAGGGGATGATCCCCATTTCAGAGAACACTGAGGTTCATAAATGTCAAATAACCTGCCTGGAGGAATCAGGTCTGAGAACAAGGTCCGTGCTCATGACCACTGGGTGGAACCCTTCTCAACATGGTACCCGTGGTCCCAGAGTCACAGGCCTTCTTAAGATGTGAAATTTGGTTAGAGATCAATTTTCTATCTCTGAAATCATCATATCCCCTCTCAATTCTTATGTGTTTATAGGAAAGGACGTGTCAACATAGAGACTTAGGAGGTCAAAGTGAACTTCCTGATCCCCAACAGGCAGGAGTCCTGCCAAAGCCAAAATTTATGTGTCACCTTGGAA 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CTTCCTAACACAGCAGCGCCTGTCTACCAGCAACAGCACCTCACTTCAATGCTTGTCAGCTGTGCTTCTCAGAGCTAGGGGATTCCTGCAGAGCTCCTCGAGGCTACTGGGAGTGGATGGGGGCTTGCCAGGTGAAGCTCCAGGCCCTCAATCCATTTCCACTAGGAAGGTGTTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGATGGAGTTGTGCTCTGTCGCCCAGGTTGCAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCTTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTGATTACAGGCATGCACCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAGACTCCTGACCTCAGGTGATCCTCCCACCTCAACCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCACATAGCTTGTTTTTGTTGTTTTTGAGATTGAGTCTCACTGTGTTGCCCAGTCTGGAGTGTAGTGGTGCAATCTTGGCTTACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGTAATCCTGTATGAGCCACTGCGCGCGGCCTCAGGCAGCTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTACAGTGACGCAGTCTTAGCTCACTGCAACCTCCGACTTCCTGGGTACAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCAGGCAGCTGTTTTTAAGGGTGTTCTGCATTGTTTCCAACTTTTCTCTGTGAACCATCCAGTGCTCCAGTACCCATCCCTGTACTGGCCGCTCAGTACTGTGTATGGCAGTTGCTCAGTGTTTCTGCTCAGAGTGGGGAATGGCTGGGTTTGTGCATTCATTTTAAACAGGCCCTGCCAAACTGCCCTCCAAACTGCTGCCACCATTGTGGGTAAGGGGACTGTGGGGTTCCACATCCAGCTACATCCTGATGTCCTGTCTTCCAGGCTATGCTACTTCAAGGGTGACCCTCTACAACCCAACAAAGATGGGGGAAGGGAAAAGCACCACACATGCAGCATATTGGCTTGGTGAGAAGACAGCAACAATAACAGTGACTAGAAGGGGAAGGAGGGCACTAGTATTGATGGTGCACCGTTACCAGGCCATCCCAGGCACGTCACCTTCACAGCACTCCTGCCAGCCACGTAGAATGAGATCCATCTCACTGATGAAGAAAAGAGAGCCTAGGCAGCTTGCCCCAGGTTGCGCAGCTAGTCAGAGGGTGAGGAGAAGGGAATCTAGGTCTAGCTCCCTCCAGAGAGGGTGCCTGAACCACCAAAAGGCACAAGAACAACTGGCACCCCCAGCCAGGCTCCGACTTCTAGGTACTCAGGACTGCCTGGTGAAGAGTCAAGCCAATGTCTTCCCAAGCAACCCAGGAGGTGGTGGAGGTAGCACGGTGGGTGGCAGTGGCTTACCATGGGGTTAGAGTCGGAGATGAGGTCTTTAAGGGTGTCCAGGAAGCCCTGGTCCTCCACCAGCTGGGCGTTGATGTCGTGGAGCTTGGCCACGCACACAGCTGCTGTCTTGCGCACATATGGATCCTCGTCCTTCAGGCACTTCCGGAGTGGCTCGCACAGGTACTCTGTGATCTTGTCAACGCGGATGCAGCCCATGGTCCACACTGCCAGGGCTCGGATGAGGGGGTTGGGGTCCTCACAGTCCTGGGGGGAACCAGCCATCGGCCAGGGCAGGGGTGGGATGAGCCATCTGTGGCTTCATATTCTCCCTGGCCTGCAGCTCTGAGCCCTGCTAGGCTGAGCGACATCAGATGGCTGCTGTGGATCTTCACCAACTACAGCCAACAACAGCAAAAGTAAATGCTATATAACCAGCACCCATGCCAGCTCTGCACACCATCTCCTCTGATCCTCACAGTAGAAATACAATACGGGTCCCATTTTATAGATGATGAAACTGAGGCTCTCAGAAAGGCTAGGAGCTCATCTGAAGCCACAGAGCAGAGCCGTGATTCAAACCCACATCCACCTAGCATCACAGCCCTCGGTCTTTCCACTGGGCCACAGAAGCCTCATTTCCCCATATCCGAGCACGGACAGGACTCAGGGGAGCTAAGGTTCTAAAGGTATACAAATTCAGAGGTACTGAACATTAGGAGAAAATAAAATTAAAATATAGGTGCACAGAGCTGACAATTTAATCTGAAGGACAGAAAATGGAGAAAGCAGCAGTCTGTAAGGGCAACAGAGAAGCTCTCGGGCACCTGCTGATTCCTGCCCTAGCAAAGCATGCAGGGCAGGGTCCAATCAGGGCAGTGAGGGGATCAACAGGCCTGGCAGGACCTCACACAGGATGAGTTACGCAGGGTCCTTAGCATCTGATTTTCTGGAGAGTGGGAGCCCTCTGCTGGAGGAAGAGGCCTGCAGGCTGGGCGGGCGCGGGCAGTCTGAAGGTCTGGACTCCATCCAGTGCCACAGGGCCCCGCCCCAAAGAGACTGAGGGGAGACAGAGCCTTAAGCACCCAATGTCCCCACGCCCACCAAGCGTCTGCTCACCTTCACAAAGGTGTTGACGGCCATAATGGCCATGTCAGGCTGACTCTTGGCGTAATTCATCAAGTAGAGGTATACTAGCTTCTTCAGCTCCAGGTTGTCCGTCTGCATGCAGTTGACCACATCGGGGAAGAGGGCACTGGAAGGTCAAAATGGTGTCAGCATGGGAAAGGCTGAACAAAGGAAGAGGAAGATTTTCAGGCTGCTAACTAGTGGGTGAGAGGACAGTGGGTAGGAGAGAAAGGAGAGACACACTGGACTTCCTGGTAAAAGGGAGGGTTTCAGGTCTGCTGTTAACAATCAACACCTATTGATAGAAAGGGAATCCCAAAGGGTAATTTTAAAAGCAGGAAAGTCCTTGATTCTTTTCATATAGTTCAAACATGAGTTCTGGAGCCCATCAAACCCACCACTGCCTCTTGCTAGCTATATGACATTGGAGAAATTCCTTTGTCACCTGCCCCCTCGCCCTGAGTCTCAATTTTCTAACTTCCAAGAAAGACGCAACAGAAACTCACTTCACAGGGCCTTTATGATAACTGAATGAGACAACATACTTAGGTATCTGGTCCTTGATATCTGGGAGATGCTGAGTAAATGAAAATGATCCTTTCTCCCTCTCTGATACTTAATGTGGCCCCTTACATTGGGCTGCTGGTTCTGGAGGGTCGCAGGGAAGCAGGATGGCTCATGCTGCTTTCTCCACAAGCTCTGGCACCCGGTAAGAACCAGCACAGCATGCATGGAGCACACACCATACACCAGGCTTGGTGCTAAGAGCTTTACATGCTTGATCTCATTTAACTGCCCTCAGAAGTCAGGGGATGATCCCCATTTCAGAGAACACTGAGGTTCATAAATGTCAAATAACCTGCCTGGAGGAATCAGGTCTGAGAACAAGGTCCGTGCTCATGACCACTGGGTGGAACCCTTCTCAACATGGTACCCGTGGTCCCAGAGTCACAGGCCTTCTTAAGATGTGAAATTTGGTTAGAGATCAATTTTCTATCTCTGAAATCATCATATCCCCTCTCAATTCTTATGTGTTTATAGGAAAGGACGTGTCAACATAGAGACTTAGGAGGTCAAAGTGAACTTCCTGATCCCCAACAGGCAGGAGTCCTGCCAAAGCCAAAATTTATGTGTCACCTTGGAA 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Task1_train_28694 | Located on Chromosome 22, this mutation impacts NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Acoustic neuroma | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTGATATTCTTCCATCTAGGTTGCTGCTTTGCTTGACTTTGACTGCAAACACAGAGAAGGGATGGGCTTTCCTGTTGAGTACCTTGTAGAGAACCCACTGTTCATTCATATGTGTTAAAAATGAAAAGCCTACTTGAAAACTCCCCTGTAGAATCAGGTTTTAGCAAAAACCAATCAGGTATCAGAGGTCTAACTTATTTTTCCCTTCTTGGTTTTATAGCAAGTCTCTAAACCCTAAGATTTTTTGTTTGTTTGTTTGAGATGGAGTCTTGCTTTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGTTTCGAGTGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCTAATTTTTTAGTATTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCTGCCTAAGAATTTTTTTCATTCCTTTTCATTATATACATCTTCAGTGTGCCAAGACTTTGAGTGGAGATTTCTAATGAGGGCAGGAAGGGACGGATGCTTCTGCAATTGAGTGGTCTCATTTTTCCCATGTCTGTCGAAAGATTACTCTTTCATGACCACCATTTCTATGATGCATCTCATATGATCCTAATGCACTCGAGTTTGTATTTGAATGTCCATCTGATATTTAGGGGTGGTTGGGGCAAGGAGGGGGCAAGCAGCAACTAAGGGGTTGTATGGGAACATCCTGGTGGTTTAACTTGAAAGCCACTAGGTGGCAACATTTACTAAGTTGCCAGCCATTCTCTTCCCTTAAGACATTGAACTTGCTTTTCCACATAGCAGATGGAATAGCTGAGAAAAGAGATTGCCATTGCTTCAGGTTCTTTTGAAAGTGAGGCTATAGGATAAACACACTACAGTATATTGATATCTATTCGTCACCTGGGTTTAGATACCAGGAGTTTGAATTTGCTCTGGGTGACTGGGTGAGTAGCTTCCCCTTTGGCCTCAGTTAGGCATCCTTGACAGGACAGACCTGTGATTGGACTGTCTGGTCTCTCATGGTTCTTTTTCTCCATGATTTATGACTTTGATTATGATTTCTTTATATTAAAAAAAAACTTGTAGTAAAACCAGTCTTATTTAAAGGAATACTAGCCTTTTATCAAAGGGCAAAGTAATGATTTAAAAAAAAAATCAACAACAAAATTTCAAGGGAATGAATGTCCCTAGAAGCTAGCCATCTCCCCGAGTTAACTTAAGAGGCTAGACTCTCCTAAATGAGGATGCTTATTTACCAGCTTTCCTAAATTAGCAGCTTTGGAGATGTTAAAATCCGTAAGGAACTGTCCAAGGGATGTATTGTGTATGCTTTGCAGTGATTAAGCCATTAAGCTCTAATTGGTATTTTCCCACTCATGGGTTTGTAAAGGAAGCTTTAAAATTATTTAGGAATTCAGTCCTCATCAGCTGTCTTAGTGTCATCCCCACGTTTTGGAACCTGAGAGTGGAGAGTGCAGAGAAAAGGTTTTATTAATGATTTTTGCTCACAGTGTCCTTCCCCATTGGTTTGTTATTGCAGATGAAGTGGAAAGGGAAGGACCTCTTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACACAATCAAGGACACAGTGGCCTGGCTCAAAATGGACAAGAAGGTTGGGCTAGAACTCGATGAAACTGGTGGGGCTGACGTGAGCTTTCCAGTTTTTCCCTGAGCAGGCGCCTAGCTCATCACTGGGGCGCTGTAGCTGTATAGTAGAGAAGGGGGCACATTCCTGAATTAAGTCATGCAGAAAGCAGGACGTAGAGATGCTACCAGTTTCCTTCTCCTCACAGGCTCTCCTGGGCAAGCAGAAGTTACCAGGATTAGACTGCTGCTGGCCCTGGCTTCTTTACCCATTGTTACCAGCCTGATTGCTTCTGGCTTTATGCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGG 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TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTGATATTCTTCCATCTAGGTTGCTGCTTTGCTTGACTTTGACTGCAAACACAGAGAAGGGATGGGCTTTCCTGTTGAGTACCTTGTAGAGAACCCACTGTTCATTCATATGTGTTAAAAATGAAAAGCCTACTTGAAAACTCCCCTGTAGAATCAGGTTTTAGCAAAAACCAATCAGGTATCAGAGGTCTAACTTATTTTTCCCTTCTTGGTTTTATAGCAAGTCTCTAAACCCTAAGATTTTTTGTTTGTTTGTTTGAGATGGAGTCTTGCTTTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGTTTCGAGTGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCTAATTTTTTAGTATTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCTGCCTAAGAATTTTTTTCATTCCTTTTCATTATATACATCTTCAGTGTGCCAAGACTTTGAGTGGAGATTTCTAATGAGGGCAGGAAGGGACGGATGCTTCTGCAATTGAGTGGTCTCATTTTTCCCATGTCTGTCGAAAGATTACTCTTTCATGACCACCATTTCTATGATGCATCTCATATGATCCTAATGCACTCGAGTTTGTATTTGAATGTCCATCTGATATTTAGGGGTGGTTGGGGCAAGGAGGGGGCAAGCAGCAACTAAGGGGTTGTATGGGAACATCCTGGTGGTTTAACTTGAAAGCCACTAGGTGGCAACATTTACTAAGTTGCCAGCCATTCTCTTCCCTTAAGACATTGAACTTGCTTTTCCACATAGCAGATGGAATAGCTGAGAAAAGAGATTGCCATTGCTTCAGGTTCTTTTGAAAGTGAGGCTATAGGATAAACACACTACAGTATATTGATATCTATTCGTCACCTGGGTTTAGATACCAGGAGTTTGAATTTGCTCTGGGTGACTGGGTGAGTAGCTTCCCCTTTGGCCTCAGTTAGGCATCCTTGACAGGACAGACCTGTGATTGGACTGTCTGGTCTCTCATGGTTCTTTTTCTCCATGATTTATGACTTTGATTATGATTTCTTTATATTAAAAAAAAACTTGTAGTAAAACCAGTCTTATTTAAAGGAATACTAGCCTTTTATCAAAGGGCAAAGTAATGATTTAAAAAAAAAATCAACAACAAAATTTCAAGGGAATGAATGTCCCTAGAAGCTAGCCATCTCCCCGAGTTAACTTAAGAGGCTAGACTCTCCTAAATGAGGATGCTTATTTACCAGCTTTCCTAAATTAGCAGCTTTGGAGATGTTAAAATCCGTAAGGAACTGTCCAAGGGATGTATTGTGTATGCTTTGCAGTGATTAAGCCATTAAGCTCTAATTGGTATTTTCCCACTCATGGGTTTGTAAAGGAAGCTTTAAAATTATTTAGGAATTCAGTCCTCATCAGCTGTCTTAGTGTCATCCCCACGTTTTGGAACCTGAGAGTGGAGAGTGCAGAGAAAAGGTTTTATTAATGATTTTTGCTCACAGTGTCCTTCCCCATTGGTTTGTTATTGCAGATGAAGTGGAAAGGGAAGGACCTCTTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTCTGGACTGCAGTACACAATCAAGGACACAGTGGCCTGGCTCAAAATGGACAAGAAGGTTGGGCTAGAACTCGATGAAACTGGTGGGGCTGACGTGAGCTTTCCAGTTTTTCCCTGAGCAGGCGCCTAGCTCATCACTGGGGCGCTGTAGCTGTATAGTAGAGAAGGGGGCACATTCCTGAATTAAGTCATGCAGAAAGCAGGACGTAGAGATGCTACCAGTTTCCTTCTCCTCACAGGCTCTCCTGGGCAAGCAGAAGTTACCAGGATTAGACTGCTGCTGGCCCTGGCTTCTTTACCCATTGTTACCAGCCTGATTGCTTCTGGCTTTATGCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGG 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Task1_train_28695 | This alteration occurs within gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurofibromatosis, type 2 | TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTGATATTCTTCCATCTAGGTTGCTGCTTTGCTTGACTTTGACTGCAAACACAGAGAAGGGATGGGCTTTCCTGTTGAGTACCTTGTAGAGAACCCACTGTTCATTCATATGTGTTAAAAATGAAAAGCCTACTTGAAAACTCCCCTGTAGAATCAGGTTTTAGCAAAAACCAATCAGGTATCAGAGGTCTAACTTATTTTTCCCTTCTTGGTTTTATAGCAAGTCTCTAAACCCTAAGATTTTTTGTTTGTTTGTTTGAGATGGAGTCTTGCTTTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGTTTCGAGTGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCTAATTTTTTAGTATTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCTGCCTAAGAATTTTTTTCATTCCTTTTCATTATATACATCTTCAGTGTGCCAAGACTTTGAGTGGAGATTTCTAATGAGGGCAGGAAGGGACGGATGCTTCTGCAATTGAGTGGTCTCATTTTTCCCATGTCTGTCGAAAGATTACTCTTTCATGACCACCATTTCTATGATGCATCTCATATGATCCTAATGCACTCGAGTTTGTATTTGAATGTCCATCTGATATTTAGGGGTGGTTGGGGCAAGGAGGGGGCAAGCAGCAACTAAGGGGTTGTATGGGAACATCCTGGTGGTTTAACTTGAAAGCCACTAGGTGGCAACATTTACTAAGTTGCCAGCCATTCTCTTCCCTTAAGACATTGAACTTGCTTTTCCACATAGCAGATGGAATAGCTGAGAAAAGAGATTGCCATTGCTTCAGGTTCTTTTGAAAGTGAGGCTATAGGATAAACACACTACAGTATATTGATATCTATTCGTCACCTGGGTTTAGATACCAGGAGTTTGAATTTGCTCTGGGTGACTGGGTGAGTAGCTTCCCCTTTGGCCTCAGTTAGGCATCCTTGACAGGACAGACCTGTGATTGGACTGTCTGGTCTCTCATGGTTCTTTTTCTCCATGATTTATGACTTTGATTATGATTTCTTTATATTAAAAAAAAACTTGTAGTAAAACCAGTCTTATTTAAAGGAATACTAGCCTTTTATCAAAGGGCAAAGTAATGATTTAAAAAAAAAATCAACAACAAAATTTCAAGGGAATGAATGTCCCTAGAAGCTAGCCATCTCCCCGAGTTAACTTAAGAGGCTAGACTCTCCTAAATGAGGATGCTTATTTACCAGCTTTCCTAAATTAGCAGCTTTGGAGATGTTAAAATCCGTAAGGAACTGTCCAAGGGATGTATTGTGTATGCTTTGCAGTGATTAAGCCATTAAGCTCTAATTGGTATTTTCCCACTCATGGGTTTGTAAAGGAAGCTTTAAAATTATTTAGGAATTCAGTCCTCATCAGCTGTCTTAGTGTCATCCCCACGTTTTGGAACCTGAGAGTGGAGAGTGCAGAGAAAAGGTTTTATTAATGATTTTTGCTCACAGTGTCCTTCCCCATTGGTTTGTTATTGCAGATGAAGTGGAAAGGGAAGGACCTCTTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACACAATCAAGGACACAGTGGCCTGGCTCAAAATGGACAAGAAGGTTGGGCTAGAACTCGATGAAACTGGTGGGGCTGACGTGAGCTTTCCAGTTTTTCCCTGAGCAGGCGCCTAGCTCATCACTGGGGCGCTGTAGCTGTATAGTAGAGAAGGGGGCACATTCCTGAATTAAGTCATGCAGAAAGCAGGACGTAGAGATGCTACCAGTTTCCTTCTCCTCACAGGCTCTCCTGGGCAAGCAGAAGTTACCAGGATTAGACTGCTGCTGGCCCTGGCTTCTTTACCCATTGTTACCAGCCTGATTGCTTCTGGCTTTATGCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGG 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TTCAGTGAAGTCTGCCTGTAGGAATTAAAACTTTTGGTGAATTAAAAAGCTTTTTGTCCTATTGTCAGACTGGGAAATGGATGTGCCCATTACTCAGCCTTAAAAACGAGGAAGGAGATCATCTGTTAAAAATAAAACTCATCATTTTCTTTTATTCTTCTCAAAATAATCCCTAAAGACCTCAATCTTTATAGTGTTCCAGTGGCCCCACTATAGTCAGAGAGGAGACAGGGCAGAAGTTGAAGGACAGATAGGAGAAACGGCCCTGCTAAAAGATAAAAGCCAGTATGCATCTCAGCTACTTGTCTGCTGTGGTCCTGATATTCTTCCATCTAGGTTGCTGCTTTGCTTGACTTTGACTGCAAACACAGAGAAGGGATGGGCTTTCCTGTTGAGTACCTTGTAGAGAACCCACTGTTCATTCATATGTGTTAAAAATGAAAAGCCTACTTGAAAACTCCCCTGTAGAATCAGGTTTTAGCAAAAACCAATCAGGTATCAGAGGTCTAACTTATTTTTCCCTTCTTGGTTTTATAGCAAGTCTCTAAACCCTAAGATTTTTTGTTTGTTTGTTTGAGATGGAGTCTTGCTTTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGTTTCGAGTGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCTAATTTTTTAGTATTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCTGCCTAAGAATTTTTTTCATTCCTTTTCATTATATACATCTTCAGTGTGCCAAGACTTTGAGTGGAGATTTCTAATGAGGGCAGGAAGGGACGGATGCTTCTGCAATTGAGTGGTCTCATTTTTCCCATGTCTGTCGAAAGATTACTCTTTCATGACCACCATTTCTATGATGCATCTCATATGATCCTAATGCACTCGAGTTTGTATTTGAATGTCCATCTGATATTTAGGGGTGGTTGGGGCAAGGAGGGGGCAAGCAGCAACTAAGGGGTTGTATGGGAACATCCTGGTGGTTTAACTTGAAAGCCACTAGGTGGCAACATTTACTAAGTTGCCAGCCATTCTCTTCCCTTAAGACATTGAACTTGCTTTTCCACATAGCAGATGGAATAGCTGAGAAAAGAGATTGCCATTGCTTCAGGTTCTTTTGAAAGTGAGGCTATAGGATAAACACACTACAGTATATTGATATCTATTCGTCACCTGGGTTTAGATACCAGGAGTTTGAATTTGCTCTGGGTGACTGGGTGAGTAGCTTCCCCTTTGGCCTCAGTTAGGCATCCTTGACAGGACAGACCTGTGATTGGACTGTCTGGTCTCTCATGGTTCTTTTTCTCCATGATTTATGACTTTGATTATGATTTCTTTATATTAAAAAAAAACTTGTAGTAAAACCAGTCTTATTTAAAGGAATACTAGCCTTTTATCAAAGGGCAAAGTAATGATTTAAAAAAAAAATCAACAACAAAATTTCAAGGGAATGAATGTCCCTAGAAGCTAGCCATCTCCCCGAGTTAACTTAAGAGGCTAGACTCTCCTAAATGAGGATGCTTATTTACCAGCTTTCCTAAATTAGCAGCTTTGGAGATGTTAAAATCCGTAAGGAACTGTCCAAGGGATGTATTGTGTATGCTTTGCAGTGATTAAGCCATTAAGCTCTAATTGGTATTTTCCCACTCATGGGTTTGTAAAGGAAGCTTTAAAATTATTTAGGAATTCAGTCCTCATCAGCTGTCTTAGTGTCATCCCCACGTTTTGGAACCTGAGAGTGGAGAGTGCAGAGAAAAGGTTTTATTAATGATTTTTGCTCACAGTGTCCTTCCCCATTGGTTTGTTATTGCAGATGAAGTGGAAAGGGAAGGACCTCTTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTCTGGACTGCAGTACACAATCAAGGACACAGTGGCCTGGCTCAAAATGGACAAGAAGGTTGGGCTAGAACTCGATGAAACTGGTGGGGCTGACGTGAGCTTTCCAGTTTTTCCCTGAGCAGGCGCCTAGCTCATCACTGGGGCGCTGTAGCTGTATAGTAGAGAAGGGGGCACATTCCTGAATTAAGTCATGCAGAAAGCAGGACGTAGAGATGCTACCAGTTTCCTTCTCCTCACAGGCTCTCCTGGGCAAGCAGAAGTTACCAGGATTAGACTGCTGCTGGCCCTGGCTTCTTTACCCATTGTTACCAGCCTGATTGCTTCTGGCTTTATGCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGG 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Task1_train_28696 | A variant was discovered in gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTAGATGAAGGTGATCTGACTTGGGTTTTACAACCCAGATAACTCTTGCCCTAACCTCCAACAATACTCAGGAAGCTTGCAGAGAGAGCTGTTTCATTTCCAGAACCTTCCAGGTAAAGAAAGTACACAAAGGAAAAGCAAGAACTTAAATAAAATTCCAACACCCAAATCTGTTTGAGGGTAGAAGATAACATACCACACACTCTTGTTGAATTACTTGAGATGAGTTTACTGTTTACCAAGGGCAAGGTGGGAAACTAAGGCCAAGAAACTCCGTGATGAGTCTGTTCTCTGACTATCTTTTGATGGGGATGGGAAATTCTGCTTGACCTCAGTGTGTTTAATAGACTCAGGGCCGGGCAGAGCTTTGCTGGTGTCTGCTGTGGCTTTTGTCTTCTGGCAGCGACGTGGCTCTAGAGGAATGGCAGGGTCAGAATGCTTGATTTGGTGCCCACCCGCTCTCCACCCATCTCACTTAGCTCCAATGACAGTGTCTTCCGTTCTCCCCACAGGGATGAAGCTGAAATGGAATATCTGAAGATAGCTCAGGACCTGGAGATGTACGGTGTGAACTACTTTGCAATCCGGGTGTGTTGAAACCTCTCTGAGCTCCTTGTGTAGTAGACAGAGACTGAGTGAGGGCCAGACTGCTAAAATGGTTACTTCTTCATTCCAAGGCGATAGACTCTTTTATGGTTCTGTGGTAAAGAAGGAAAGAGGAAGGAAAGAGAGGTCTTAGTGCCTAACTTTCTATTTTTGGACTTCAATTAGATCATAGGTAATTAAGTGTCACTTGAGCCTTGGGGGACTTGGACCTGGTTCTGCTCTCAGCAGAAACCTGTTTGAATGCTCTGAGTGTAAGATTTGATTATTTCTGGCTCTGTGAGATCTCCGTCCACAGGGAGCACTTGTAAGTACTTCTCCCCCCAACACACACCCCACCCCCATCCCCACCCCCACCCCCACCCCAGGCACTAGTAGAGTAGATCTGCCTTTATAGATTACTGATTTGTTTGGGATTCTCACTATGAGGCTAATTGGTTTTCTATTCAGACTATTAATAGTCTGCTGTCTGCTGGGAACCCACTGCTTCTGCAGGGAGAGGCATTTGTGTGCAGCCCAGATCTGGGCCTTTAGAATGTCTTTCTCCTGTGGGTCAGTATCTGGATGCAGTGTATAGGCAGCTTCTTACAAAGGGATGCATGCGATTTGCCAAAGCATTTCACTACGGACTCCAAACTGCAGATGAGTAGATGTTAAAACAATGAGGCGGGTCCACCTTTATTTTCATAGTCATGCTTTGCTTTCCCTTATTGGGTTCCTACAGTTGTTGTATTAAATTCAGGTAAATTGAAACATATTTTAAATATTCTAGGATAGCTTTCTACTTCATTTGTATTTTGTAAATACAGATTTGTATGGATTACACTGCATAAGAAAATAAGGCACACTTAAAGTGCCTAAAAGATGCTCCATAATAGTACAGGAAGTTCTTTTCTAAAGTTCTGTCAGTTTGTATTTGCTAATTGCTTGGTTTCTTTAAGGTCAAACTAATGTAACACATTTCTGTGGTTTTGTCAACTCAACTCCTCTTGCCCCATGTTCTGGCCACCTAGATTCTAGAAAACTAAAGTTTTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAAC 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CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTAGATGAAGGTGATCTGACTTGGGTTTTACAACCCAGATAACTCTTGCCCTAACCTCCAACAATACTCAGGAAGCTTGCAGAGAGAGCTGTTTCATTTCCAGAACCTTCCAGGTAAAGAAAGTACACAAAGGAAAAGCAAGAACTTAAATAAAATTCCAACACCCAAATCTGTTTGAGGGTAGAAGATAACATACCACACACTCTTGTTGAATTACTTGAGATGAGTTTACTGTTTACCAAGGGCAAGGTGGGAAACTAAGGCCAAGAAACTCCGTGATGAGTCTGTTCTCTGACTATCTTTTGATGGGGATGGGAAATTCTGCTTGACCTCAGTGTGTTTAATAGACTCAGGGCCGGGCAGAGCTTTGCTGGTGTCTGCTGTGGCTTTTGTCTTCTGGCAGCGACGTGGCTCTAGAGGAATGGCAGGGTCAGAATGCTTGATTTGGTGCCCACCCGCTCTCCACCCATCTCACTTAGCTCCAATGACAGTGTCTTCCGTTCTCCCCACAGGGATGAAGCTGAAATGGAATATCTGAAGATAGCTCAGGACCTGGAGATGTACGGTGTGTACTACTTTGCAATCCGGGTGTGTTGAAACCTCTCTGAGCTCCTTGTGTAGTAGACAGAGACTGAGTGAGGGCCAGACTGCTAAAATGGTTACTTCTTCATTCCAAGGCGATAGACTCTTTTATGGTTCTGTGGTAAAGAAGGAAAGAGGAAGGAAAGAGAGGTCTTAGTGCCTAACTTTCTATTTTTGGACTTCAATTAGATCATAGGTAATTAAGTGTCACTTGAGCCTTGGGGGACTTGGACCTGGTTCTGCTCTCAGCAGAAACCTGTTTGAATGCTCTGAGTGTAAGATTTGATTATTTCTGGCTCTGTGAGATCTCCGTCCACAGGGAGCACTTGTAAGTACTTCTCCCCCCAACACACACCCCACCCCCATCCCCACCCCCACCCCCACCCCAGGCACTAGTAGAGTAGATCTGCCTTTATAGATTACTGATTTGTTTGGGATTCTCACTATGAGGCTAATTGGTTTTCTATTCAGACTATTAATAGTCTGCTGTCTGCTGGGAACCCACTGCTTCTGCAGGGAGAGGCATTTGTGTGCAGCCCAGATCTGGGCCTTTAGAATGTCTTTCTCCTGTGGGTCAGTATCTGGATGCAGTGTATAGGCAGCTTCTTACAAAGGGATGCATGCGATTTGCCAAAGCATTTCACTACGGACTCCAAACTGCAGATGAGTAGATGTTAAAACAATGAGGCGGGTCCACCTTTATTTTCATAGTCATGCTTTGCTTTCCCTTATTGGGTTCCTACAGTTGTTGTATTAAATTCAGGTAAATTGAAACATATTTTAAATATTCTAGGATAGCTTTCTACTTCATTTGTATTTTGTAAATACAGATTTGTATGGATTACACTGCATAAGAAAATAAGGCACACTTAAAGTGCCTAAAAGATGCTCCATAATAGTACAGGAAGTTCTTTTCTAAAGTTCTGTCAGTTTGTATTTGCTAATTGCTTGGTTTCTTTAAGGTCAAACTAATGTAACACATTTCTGTGGTTTTGTCAACTCAACTCCTCTTGCCCCATGTTCTGGCCACCTAGATTCTAGAAAACTAAAGTTTTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAAC 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Task1_train_28697 | A mutation found in NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis, type 2 | CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTAGATGAAGGTGATCTGACTTGGGTTTTACAACCCAGATAACTCTTGCCCTAACCTCCAACAATACTCAGGAAGCTTGCAGAGAGAGCTGTTTCATTTCCAGAACCTTCCAGGTAAAGAAAGTACACAAAGGAAAAGCAAGAACTTAAATAAAATTCCAACACCCAAATCTGTTTGAGGGTAGAAGATAACATACCACACACTCTTGTTGAATTACTTGAGATGAGTTTACTGTTTACCAAGGGCAAGGTGGGAAACTAAGGCCAAGAAACTCCGTGATGAGTCTGTTCTCTGACTATCTTTTGATGGGGATGGGAAATTCTGCTTGACCTCAGTGTGTTTAATAGACTCAGGGCCGGGCAGAGCTTTGCTGGTGTCTGCTGTGGCTTTTGTCTTCTGGCAGCGACGTGGCTCTAGAGGAATGGCAGGGTCAGAATGCTTGATTTGGTGCCCACCCGCTCTCCACCCATCTCACTTAGCTCCAATGACAGTGTCTTCCGTTCTCCCCACAGGGATGAAGCTGAAATGGAATATCTGAAGATAGCTCAGGACCTGGAGATGTACGGTGTGAACTACTTTGCAATCCGGGTGTGTTGAAACCTCTCTGAGCTCCTTGTGTAGTAGACAGAGACTGAGTGAGGGCCAGACTGCTAAAATGGTTACTTCTTCATTCCAAGGCGATAGACTCTTTTATGGTTCTGTGGTAAAGAAGGAAAGAGGAAGGAAAGAGAGGTCTTAGTGCCTAACTTTCTATTTTTGGACTTCAATTAGATCATAGGTAATTAAGTGTCACTTGAGCCTTGGGGGACTTGGACCTGGTTCTGCTCTCAGCAGAAACCTGTTTGAATGCTCTGAGTGTAAGATTTGATTATTTCTGGCTCTGTGAGATCTCCGTCCACAGGGAGCACTTGTAAGTACTTCTCCCCCCAACACACACCCCACCCCCATCCCCACCCCCACCCCCACCCCAGGCACTAGTAGAGTAGATCTGCCTTTATAGATTACTGATTTGTTTGGGATTCTCACTATGAGGCTAATTGGTTTTCTATTCAGACTATTAATAGTCTGCTGTCTGCTGGGAACCCACTGCTTCTGCAGGGAGAGGCATTTGTGTGCAGCCCAGATCTGGGCCTTTAGAATGTCTTTCTCCTGTGGGTCAGTATCTGGATGCAGTGTATAGGCAGCTTCTTACAAAGGGATGCATGCGATTTGCCAAAGCATTTCACTACGGACTCCAAACTGCAGATGAGTAGATGTTAAAACAATGAGGCGGGTCCACCTTTATTTTCATAGTCATGCTTTGCTTTCCCTTATTGGGTTCCTACAGTTGTTGTATTAAATTCAGGTAAATTGAAACATATTTTAAATATTCTAGGATAGCTTTCTACTTCATTTGTATTTTGTAAATACAGATTTGTATGGATTACACTGCATAAGAAAATAAGGCACACTTAAAGTGCCTAAAAGATGCTCCATAATAGTACAGGAAGTTCTTTTCTAAAGTTCTGTCAGTTTGTATTTGCTAATTGCTTGGTTTCTTTAAGGTCAAACTAATGTAACACATTTCTGTGGTTTTGTCAACTCAACTCCTCTTGCCCCATGTTCTGGCCACCTAGATTCTAGAAAACTAAAGTTTTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAAC 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CAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTAGATGAAGGTGATCTGACTTGGGTTTTACAACCCAGATAACTCTTGCCCTAACCTCCAACAATACTCAGGAAGCTTGCAGAGAGAGCTGTTTCATTTCCAGAACCTTCCAGGTAAAGAAAGTACACAAAGGAAAAGCAAGAACTTAAATAAAATTCCAACACCCAAATCTGTTTGAGGGTAGAAGATAACATACCACACACTCTTGTTGAATTACTTGAGATGAGTTTACTGTTTACCAAGGGCAAGGTGGGAAACTAAGGCCAAGAAACTCCGTGATGAGTCTGTTCTCTGACTATCTTTTGATGGGGATGGGAAATTCTGCTTGACCTCAGTGTGTTTAATAGACTCAGGGCCGGGCAGAGCTTTGCTGGTGTCTGCTGTGGCTTTTGTCTTCTGGCAGCGACGTGGCTCTAGAGGAATGGCAGGGTCAGAATGCTTGATTTGGTGCCCACCCGCTCTCCACCCATCTCACTTAGCTCCAATGACAGTGTCTTCCGTTCTCCCCACAGGGATGAAGCTGAAATGGAATATCTGAAGATAGCTCAGGACCTGGAGATGTACGGTGTGTACTACTTTGCAATCCGGGTGTGTTGAAACCTCTCTGAGCTCCTTGTGTAGTAGACAGAGACTGAGTGAGGGCCAGACTGCTAAAATGGTTACTTCTTCATTCCAAGGCGATAGACTCTTTTATGGTTCTGTGGTAAAGAAGGAAAGAGGAAGGAAAGAGAGGTCTTAGTGCCTAACTTTCTATTTTTGGACTTCAATTAGATCATAGGTAATTAAGTGTCACTTGAGCCTTGGGGGACTTGGACCTGGTTCTGCTCTCAGCAGAAACCTGTTTGAATGCTCTGAGTGTAAGATTTGATTATTTCTGGCTCTGTGAGATCTCCGTCCACAGGGAGCACTTGTAAGTACTTCTCCCCCCAACACACACCCCACCCCCATCCCCACCCCCACCCCCACCCCAGGCACTAGTAGAGTAGATCTGCCTTTATAGATTACTGATTTGTTTGGGATTCTCACTATGAGGCTAATTGGTTTTCTATTCAGACTATTAATAGTCTGCTGTCTGCTGGGAACCCACTGCTTCTGCAGGGAGAGGCATTTGTGTGCAGCCCAGATCTGGGCCTTTAGAATGTCTTTCTCCTGTGGGTCAGTATCTGGATGCAGTGTATAGGCAGCTTCTTACAAAGGGATGCATGCGATTTGCCAAAGCATTTCACTACGGACTCCAAACTGCAGATGAGTAGATGTTAAAACAATGAGGCGGGTCCACCTTTATTTTCATAGTCATGCTTTGCTTTCCCTTATTGGGTTCCTACAGTTGTTGTATTAAATTCAGGTAAATTGAAACATATTTTAAATATTCTAGGATAGCTTTCTACTTCATTTGTATTTTGTAAATACAGATTTGTATGGATTACACTGCATAAGAAAATAAGGCACACTTAAAGTGCCTAAAAGATGCTCCATAATAGTACAGGAAGTTCTTTTCTAAAGTTCTGTCAGTTTGTATTTGCTAATTGCTTGGTTTCTTTAAGGTCAAACTAATGTAACACATTTCTGTGGTTTTGTCAACTCAACTCCTCTTGCCCCATGTTCTGGCCACCTAGATTCTAGAAAACTAAAGTTTTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAAC 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Task1_train_28698 | The gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 2 | ATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTTTCGTAGAGATCAGGTCTTGCTATGTTACCCAGGCTGATCTCAAACTCCTGGGCTCAAACATTCCTCCTACTTCAGCCCCCCAAAGTGCTAGGGTTACAGGCATGAGCTGCTATGCCTGCCTGGCCTGACTGGGCTTTTTCTTTCTTTCTTTCTTAGTTTCTTTTTTTTTAAAAGAATTGTAGATATGTAGTAAGCCACCTTATGGAAATTGTAATATGATGGAAATTAGAGAACAAATTGGCCAAGCTTTTCATTGACTTACAAGGAGAAAATTGGAGAAGAACTTTCACTGTTTTATTGCTTGTCTTTGCATTATCTTTTTGAGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGGCTTAGGATTTAGAAAAAGCAGCAGTCTTAGAAACCTTGTATGACCAGAGTGTGGGATAAGATTGAAGCAAGAAGTAATTAAATGTGCTTTAATTATTTAAGGCAGAAAATAGTGCAGTGGTCACTTCTGGGTTCTGCTTTTTGAACTCAGTTAGTACCCTGGGATCACAGAGGAATGGCACTGTCTTGTGCTTGTTCCCCTTATTAAGCTCAGCATGTGGCCCAATTAATGCAGTGATCCAGAAGGCAAGGGAGGTAGTGGTGGCTTTGTGCTGTTGCCTTAAGGACACGGGGCTGTGTTTCCCGCCTGGCTCCCTCCTGTCCTAGGCCTGGCTCAGGAGTTGTCTCCACATGAGGCTGTGCAAGTCTGTGCTGTGGCTGTTGCAGCTCCCCCCTGTGAAATACAATGTGTGAACTATTGATGCATCACGTAGAATGATTCCATCTTCTCTGTGGGTCAGAGGCAAGAGTGGAGCTATTGTTGATGAAATCAGAGATGTGAGAGGGGTCCATGTGGATTAGAAATGGTGAGATGGCTTGCCTGCCCAGATGAGAAAGCTGCTTATTTCTGGGGCTCTATCTGAGGGAGGAGGTCCTGCATTGCATCCCATCGGCCATGGGGCAGAGCCACCTGGGGTTTCCCAACAAAAAGCAACATTGGCAAGGTAGCCATTTCAGTGCACCGTGTATAAGAATGCCTCCTTCTGCCAGGCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTGATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGG 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ATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTTTCGTAGAGATCAGGTCTTGCTATGTTACCCAGGCTGATCTCAAACTCCTGGGCTCAAACATTCCTCCTACTTCAGCCCCCCAAAGTGCTAGGGTTACAGGCATGAGCTGCTATGCCTGCCTGGCCTGACTGGGCTTTTTCTTTCTTTCTTTCTTAGTTTCTTTTTTTTTAAAAGAATTGTAGATATGTAGTAAGCCACCTTATGGAAATTGTAATATGATGGAAATTAGAGAACAAATTGGCCAAGCTTTTCATTGACTTACAAGGAGAAAATTGGAGAAGAACTTTCACTGTTTTATTGCTTGTCTTTGCATTATCTTTTTGAGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGGCTTAGGATTTAGAAAAAGCAGCAGTCTTAGAAACCTTGTATGACCAGAGTGTGGGATAAGATTGAAGCAAGAAGTAATTAAATGTGCTTTAATTATTTAAGGCAGAAAATAGTGCAGTGGTCACTTCTGGGTTCTGCTTTTTGAACTCAGTTAGTACCCTGGGATCACAGAGGAATGGCACTGTCTTGTGCTTGTTCCCCTTATTAAGCTCAGCATGTGGCCCAATTAATGCAGTGATCCAGAAGGCAAGGGAGGTAGTGGTGGCTTTGTGCTGTTGCCTTAAGGACACGGGGCTGTGTTTCCCGCCTGGCTCCCTCCTGTCCTAGGCCTGGCTCAGGAGTTGTCTCCACATGAGGCTGTGCAAGTCTGTGCTGTGGCTGTTGCAGCTCCCCCCTGTGAAATACAATGTGTGAACTATTGATGCATCACGTAGAATGATTCCATCTTCTCTGTGGGTCAGAGGCAAGAGTGGAGCTATTGTTGATGAAATCAGAGATGTGAGAGGGGTCCATGTGGATTAGAAATGGTGAGATGGCTTGCCTGCCCAGATGAGAAAGCTGCTTATTTCTGGGGCTCTATCTGAGGGAGGAGGTCCTGCATTGCATCCCATCGGCCATGGGGCAGAGCCACCTGGGGTTTCCCAACAAAAAGCAACATTGGCAAGGTAGCCATTTCAGTGCACCGTGTATAAGAATGCCTCCTTCTGCCAGGCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTGATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCCGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGG 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Task1_train_28699 | This variant affects gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 2 | TATCCAGACATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGAGACACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAGAAATTGATTTCTCACAGTTTGGGAGGCTGAGAAGGCCAAGATCAAGGCACGGGCAGAGGTGGAGTCTAGTGAGGGCATTCTTGCTGGTTCATAATCAGCCCCTTTTTGCTGCATGCTCACCCAGTGGAAGGGATGAGGGGTCTCTCTGGAGTCTCTTTTATAAGGGCACTAATCCCATTCATGAGGCTCTACCCTCATGACTGCCCAAAGGCCCCACCTCCTGACACTTTTTTTTTTTTTGAGATGGAGTCTCACTCCATCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATGCTATCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCGGTGATTAGGTTTCCACATATGAATTTTGAAGACACGAACATTCAGACCATAGCACTTCTTACCCTTGCACATATTGGCAGAGTCTCTATACTAACCATGGCAATCCCTATGGAGTGTTTTTGGTATTTGTATTGCATGGTTTTTCTGGCCATGCCTTGTAGTTGGACACTTTGTGGGTGGTTTCCAGATTTTCACCATCATAGATGCTGTCACTCAGTGTTATCTGTTCTCAGGTGAGGGTGGGGATCTTTTCTTCCTTGCGTTGGGTGAGCTTCTGAGTGAGCTTCTGTCATCTTTAGATGAAGTCTCAGAACAAGTGGGAATGTGGATGTGGCCTATCAAAAGAGATCACGTGAAGCTGGGCGCTGTGGCTTATGCCTATAATCCCAGCCCTTTGAGACCAGGGGTTCAAAGCCAGCCTGGGCAGCATAGCAAGATCCTATAAAAAAAAAAAAGAGTTTACTTGAATTACTGCTCCAAGAAGGGTTGAGACAAGGAGATTGTTCTGGGTTCCCAGGAAGCTTGTTTCACGTATGTTTTTTTTTTGTACAGAACGAAAAGCTGTCCATGAGAGCTGGTATTTGTAGAGCCCCCTATGAGAATTTACCAAGGGCTTTTCTACTCTTTCTTTTTCTTTCCTTTTCTTTTTTTTTTTTTAAAAATAGAGACAGGGTCTTGCTATGTTTCCCAAGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCACCCAAAGTACTGGGATTACAGGTGGAGCCACCGTGCCTGGCCTCCTACACTGTTTTATTTAATCCTAACCACGGCCCTGTGATCATTATCCCAATTTTAATGATGAGGAAACATTCATAGCATTTAAGTGACCAGCCCAAGCTCCCATGGCCTGTGAGTGGCCAAGTAGAGACGTGAACCCCAGGCCTCAAACCCTAGATCGCACACCAAGCAGCTTGTGGGCCGCAGAGCACCTGAGCCGTGTCTCACTGTCTGCCCAAGCCCTGATGCATGATACCCTCTTGCCGGCAGAGTGGAATACATGGAAAAGAGCAAGCATCTGCAGGAGCAGCTCAATGAACTCAAGACAGAAATCGAGGCCTTGAAACTGAAAGAGAGGGAGACAGCTCTGGATATTCTGCACAATGAGAACTCCGACAGGGGTGGCAGCAGCAAGCACAATACCATTAAAAAGGTACCCAGGGTCTCTTTCTTGTATTTTGCTGATCAGGACCATCATTAATGAAATGTGCGGTTGGCATCTGGTTTCCTCAGTAGCCAAGTCACTAGACTATTGGCATCTTTTGTATGTACTTAGTTGAGGAAATTTTTTAACTTATGCCAGAAAGGGAATTTAATCTGCCAATGACTATGAACCCATTGGCTGGATGGAAGTTGAGCTTGTGTTAAAAGCTCTGATGTAATGAACCCCTGTTACAGGGTGGATTTTGAGCCCTCATTTAGCAGTAAAGCATAATGCCCTTTTAAGCCAAGGGGTGTTATACCCAGGGAGCTGCCTTACTTTATGAGAAAGCAGAATGAAATGGAGGCTATTGAGAATGGACTTTCCCTCTAGTCTTGTGGTGTCTTTAAGTGGCAAGGACTATAAAACCAAACTGAATTTTTAACTTTTTTCATACTTAAAAGGAAGTGTCTAGGAAAGAACCTCTTTGTTTTAAAAGAGAAGACTTTATTACTTTGCAAATGGTTTCATATCTTTCTCTACTGGTATTTTGAGCTTTCAGCATTGTCGAGATTCAGAAGCTAAATTCCATACTAATTATCAGCCCAAGAGCATACCTCTCTCATTTGGGCCAAGCAGAAGGGTCCTCTCATACCAAATAATGCTCTGCTCTTAACTGATAGCCCAGGACCAGGTTAACACCTATAAAATAGGTGTTATTAAGATAAGACTGTCCATTGAGTTTAGGTGATACTGATACAGTTAATTTTTTATTCTTTACCTCAGTCTTTAAAATAGGCTTCCAGTTTTATGGACTGTCTCTGTTTTTAGTGGTTAAGCTGTATCTGAAAACTCCAGGGGATCTGTTTCTGCCTGCCTTCGTTGTTGGGTACAGTAGGCAGCCCTGACTTCTACCTCTCGACTCCAGTCACAACTGGCACCGGGTAGAGAATTCCTTTTAATAGTGCAACCTAGAAGGAAAGGCATTTCCACATTCCACATTCTTCTTTCCTCTGGCTTCTGTAATTTACTGGGCTTCCCTTCCAAAACAAAATTATTAAACAGTAAAGGGGAGTTCAAGGGAGGCCTCGGTCATTAAGGAAAGAGGTAAAACGATGGCTGAGCCAGTGAGCCAGTCAGCCCTTAAATGAACTGCCTCAGACACCCCATCTCACCCCTTACCCCCAGCCTTGTCATCTGGGTCCCAGGAACAGTCTCACCATTTCCACTGCTGCTGCAATGAGCAGTGCCCTCAGCCACAGAAACCTGCAGTGTGAGAGCTGGAGAGACCCCGTTCCAAGCCATTAAAACAAACAAAATCACTCATCACGATTTCAGGCCTATCCAAGCATTTTGCAGATGGCACTTATGGCATTGTTGATATCACAGGGTATGTTTTTGTTTTTCTTCATTTTATTTTGCTGGTTTAGCCTCAAGCCCAAGGCAGAAGACCTATCTGCATTTGAGCCCTCAAAGTAGGTTGTTCCCAGGTACTCTCTATGTGGTGATGGTGCTGCCCTCTGTGATACTAACCCGTGCATGAGCTTGCCTGTCTCTGTCCTCGGGCCACACTGAGCCCTTACGAGGGCAGGTGGTGCCTGGGTACTGGCCGCAGCATGCTTTGAGTCTAAAAGTAGGCACCCACCCTGTGAAGCCAGACCAGCCTCCAGGGCCCCAGAAGACTGCCTCGTTCCGAAGAGCATGTCATGGGGCTGTAGGACCAGCCATTCTTCCCATCTCGGGTCATTGTTGGGCTGGGGAAGGTTATGGCTTCTTGTCCAGTCAGGTGTGTCTAAAAGTCCTTTGTCTTGGTGGCATACTCCTAGCATGGAAATGGGGTCAATCTGGGCACTTTGGAGACTGGTGTGTTTAACTCAAGATCAAGACCTTTTATGCGTTGACAGCCTCTCAAGACCCATGGTCACA 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TATCCAGACATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGAGACACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAGAAATTGATTTCTCACAGTTTGGGAGGCTGAGAAGGCCAAGATCAAGGCACGGGCAGAGGTGGAGTCTAGTGAGGGCATTCTTGCTGGTTCATAATCAGCCCCTTTTTGCTGCATGCTCACCCAGTGGAAGGGATGAGGGGTCTCTCTGGAGTCTCTTTTATAAGGGCACTAATCCCATTCATGAGGCTCTACCCTCATGACTGCCCAAAGGCCCCACCTCCTGACACTTTTTTTTTTTTTGAGATGGAGTCTCACTCCATCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATGCTATCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCGGTGATTAGGTTTCCACATATGAATTTTGAAGACACGAACATTCAGACCATAGCACTTCTTACCCTTGCACATATTGGCAGAGTCTCTATACTAACCATGGCAATCCCTATGGAGTGTTTTTGGTATTTGTATTGCATGGTTTTTCTGGCCATGCCTTGTAGTTGGACACTTTGTGGGTGGTTTCCAGATTTTCACCATCATAGATGCTGTCACTCAGTGTTATCTGTTCTCAGGTGAGGGTGGGGATCTTTTCTTCCTTGCGTTGGGTGAGCTTCTGAGTGAGCTTCTGTCATCTTTAGATGAAGTCTCAGAACAAGTGGGAATGTGGATGTGGCCTATCAAAAGAGATCACGTGAAGCTGGGCGCTGTGGCTTATGCCTATAATCCCAGCCCTTTGAGACCAGGGGTTCAAAGCCAGCCTGGGCAGCATAGCAAGATCCTATAAAAAAAAAAAAGAGTTTACTTGAATTACTGCTCCAAGAAGGGTTGAGACAAGGAGATTGTTCTGGGTTCCCAGGAAGCTTGTTTCACGTATGTTTTTTTTTTGTACAGAACGAAAAGCTGTCCATGAGAGCTGGTATTTGTAGAGCCCCCTATGAGAATTTACCAAGGGCTTTTCTACTCTTTCTTTTTCTTTCCTTTTCTTTTTTTTTTTTTAAAAATAGAGACAGGGTCTTGCTATGTTTCCCAAGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCACCCAAAGTACTGGGATTACAGGTGGAGCCACCGTGCCTGGCCTCCTACACTGTTTTATTTAATCCTAACCACGGCCCTGTGATCATTATCCCAATTTTAATGATGAGGAAACATTCATAGCATTTAAGTGACCAGCCCAAGCTCCCATGGCCTGTGAGTGGCCAAGTAGAGACGTGAACCCCAGGCCTCAAACCCTAGATCGCACACCAAGCAGCTTGTGGGCCGCAGAGCACCTGAGCCGTGTCTCACTGTCTGCCCAAGCCCTGATGCATGATACCCTCTTGCCGGCAGAGTGGAATACATGGAAAAGAGCAAGCATCCGCAGGAGCAGCTCAATGAACTCAAGACAGAAATCGAGGCCTTGAAACTGAAAGAGAGGGAGACAGCTCTGGATATTCTGCACAATGAGAACTCCGACAGGGGTGGCAGCAGCAAGCACAATACCATTAAAAAGGTACCCAGGGTCTCTTTCTTGTATTTTGCTGATCAGGACCATCATTAATGAAATGTGCGGTTGGCATCTGGTTTCCTCAGTAGCCAAGTCACTAGACTATTGGCATCTTTTGTATGTACTTAGTTGAGGAAATTTTTTAACTTATGCCAGAAAGGGAATTTAATCTGCCAATGACTATGAACCCATTGGCTGGATGGAAGTTGAGCTTGTGTTAAAAGCTCTGATGTAATGAACCCCTGTTACAGGGTGGATTTTGAGCCCTCATTTAGCAGTAAAGCATAATGCCCTTTTAAGCCAAGGGGTGTTATACCCAGGGAGCTGCCTTACTTTATGAGAAAGCAGAATGAAATGGAGGCTATTGAGAATGGACTTTCCCTCTAGTCTTGTGGTGTCTTTAAGTGGCAAGGACTATAAAACCAAACTGAATTTTTAACTTTTTTCATACTTAAAAGGAAGTGTCTAGGAAAGAACCTCTTTGTTTTAAAAGAGAAGACTTTATTACTTTGCAAATGGTTTCATATCTTTCTCTACTGGTATTTTGAGCTTTCAGCATTGTCGAGATTCAGAAGCTAAATTCCATACTAATTATCAGCCCAAGAGCATACCTCTCTCATTTGGGCCAAGCAGAAGGGTCCTCTCATACCAAATAATGCTCTGCTCTTAACTGATAGCCCAGGACCAGGTTAACACCTATAAAATAGGTGTTATTAAGATAAGACTGTCCATTGAGTTTAGGTGATACTGATACAGTTAATTTTTTATTCTTTACCTCAGTCTTTAAAATAGGCTTCCAGTTTTATGGACTGTCTCTGTTTTTAGTGGTTAAGCTGTATCTGAAAACTCCAGGGGATCTGTTTCTGCCTGCCTTCGTTGTTGGGTACAGTAGGCAGCCCTGACTTCTACCTCTCGACTCCAGTCACAACTGGCACCGGGTAGAGAATTCCTTTTAATAGTGCAACCTAGAAGGAAAGGCATTTCCACATTCCACATTCTTCTTTCCTCTGGCTTCTGTAATTTACTGGGCTTCCCTTCCAAAACAAAATTATTAAACAGTAAAGGGGAGTTCAAGGGAGGCCTCGGTCATTAAGGAAAGAGGTAAAACGATGGCTGAGCCAGTGAGCCAGTCAGCCCTTAAATGAACTGCCTCAGACACCCCATCTCACCCCTTACCCCCAGCCTTGTCATCTGGGTCCCAGGAACAGTCTCACCATTTCCACTGCTGCTGCAATGAGCAGTGCCCTCAGCCACAGAAACCTGCAGTGTGAGAGCTGGAGAGACCCCGTTCCAAGCCATTAAAACAAACAAAATCACTCATCACGATTTCAGGCCTATCCAAGCATTTTGCAGATGGCACTTATGGCATTGTTGATATCACAGGGTATGTTTTTGTTTTTCTTCATTTTATTTTGCTGGTTTAGCCTCAAGCCCAAGGCAGAAGACCTATCTGCATTTGAGCCCTCAAAGTAGGTTGTTCCCAGGTACTCTCTATGTGGTGATGGTGCTGCCCTCTGTGATACTAACCCGTGCATGAGCTTGCCTGTCTCTGTCCTCGGGCCACACTGAGCCCTTACGAGGGCAGGTGGTGCCTGGGTACTGGCCGCAGCATGCTTTGAGTCTAAAAGTAGGCACCCACCCTGTGAAGCCAGACCAGCCTCCAGGGCCCCAGAAGACTGCCTCGTTCCGAAGAGCATGTCATGGGGCTGTAGGACCAGCCATTCTTCCCATCTCGGGTCATTGTTGGGCTGGGGAAGGTTATGGCTTCTTGTCCAGTCAGGTGTGTCTAAAAGTCCTTTGTCTTGGTGGCATACTCCTAGCATGGAAATGGGGTCAATCTGGGCACTTTGGAGACTGGTGTGTTTAACTCAAGATCAAGACCTTTTATGCGTTGACAGCCTCTCAAGACCCATGGTCACA 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