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_23700 | A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC 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Task1_train_23701 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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Task1_train_23702 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; ALOX12B-related disorder | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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Task1_train_23703 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lamellar ichthyosis | TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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TCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCATGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCG 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Task1_train_23704 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTT 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TCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCACAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTT 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Task1_train_23705 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTG 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TTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGTCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTG 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Task1_train_23706 | This variant affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGG 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TGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGGCATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGG 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Task1_train_23707 | Assess the clinical impact of this variant on gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGA 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AGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCTCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGA 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Task1_train_23708 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCAT 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GCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGAACTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCAT 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Task1_train_23709 | This mutation occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGG 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ACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGGGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGG 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Task1_train_23710 | A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG 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TTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGAGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG 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Task1_train_23711 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lamellar ichthyosis | GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC 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GCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTAGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC 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Task1_train_23712 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not specified | TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTT 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TACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTTAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTT 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Task1_train_23713 | Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG 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CCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGCGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG 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Task1_train_23714 | With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG 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AAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTATGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG 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Task1_train_23715 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lamellar ichthyosis | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA 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CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTAGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA 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Task1_train_23716 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; See cases | CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA 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CTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTAGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA 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Task1_train_23717 | With a mutation on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC 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TCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTTGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC 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Task1_train_23718 | A mutation on Chromosome 17 affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC 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GTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGTGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC 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Task1_train_23719 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT 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ACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACATCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT 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Task1_train_23720 | A variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGC 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ACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTCGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGC 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Task1_train_23721 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTT 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GATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGTCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTT 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Task1_train_23722 | Here’s a variant in ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAA | CCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCGGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAA 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Task1_train_23723 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCA 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TTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGCAGAGGCTAAGTCTAATTATCTCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAGTGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCA 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Task1_train_23724 | A variant was discovered on Chromosome 17, affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTC | TCAGTATTTCCAGTAGGGACCTGACCCCCTTCAGGGATTGGTTTTCCAGGTGGATGGATGGATGAAGTCAAAGAGACAAGCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCGGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTC 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Task1_train_23725 | This genomic variant is located on Chromosome 17, within the ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCC 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GCACACCCCACAGACACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGAAGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCC 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Task1_train_23726 | This gene mutation involves ALOX12B, LOC130060196 (arachidonate 12-lipoxygenase, 12R type| ATAC-STARR-seq lymphoblastoid active region 11660) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTA 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ACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAATATCTGGGACTACAGGCGCCGCCCCCGACCATGCCCAGCTAATTTTTGTAGTTTTAGTAAAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTTGAGCTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGGATTACAGGCGTGAGCCACCACACCGGGCCTAGAGAGCGGGCCTAGAGAGGATTGAAAATACACAAGAGGGCCGGGCGAGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGAGTGCAACATGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGAGCAGCGCACTTTGTACTTCTGTACCTCAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGAGCCTTGCAAGGTGCATCTCCACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAACTAGAAAAATGTGCCCAGGCTGGACGCGGTGGCTCACGCCTGTGATCCCAACACACAAGAAGATGTGTGTAAGTTATATGTAAATACTGGGACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGAGCGACATGCAGTGGCATGATCTAGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCTAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTA 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Task1_train_23727 | This sequence variant lies in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGTCATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTACACATTTTTTAACACCCATTTATGGGTGAGAACATTCGGTATTTGACTTTCTGGTCTGGCTTGTTTCACTTAAGATAATGACTTCTAGTTCCATCCATGTTGCTGCAAATGACATGATTTCATTTTTTTCATGACTGAATAGTATTCCACTGTGTATATATACCACATTTTCTTTATCCAGTCATCCATTAGGGCACTTAGGGTGATTCCATATCTTTGCTAGTGTGAATAGCGCCACAATAAATAAGGCATCTTTTTGATATGTTGATTTCTTTTCCTTTGGGTATATACCACTGAAATATTAATAACTGACAGTTGTTTAGCACTTACTAGGTCCCAGGTATTGGGAAAAGGGCTTGTGGGGTGCCTGTATAAACTGGCCATAAAAATATGTGACAGTAAGCTGTGGAAAGTCACAAAAGGCCTCTGAGGAGGAAAGCGTTCTTATCGCCATTATGTTCCCATGCTCTGAGCGTTAACCTGCTGTCTTATCTATAAACACTGTGTTCAAGGAGAAAGACACTCCTTTGAAACCTGGAAGGTGGACAGACGCGCAGGCTCCTAGTTAAGCCTGTTCCCACTAGCTGCTCTCCGATAAGTTAAAGATGTGCTGTTTGAGCACAAAGGAGATTCGTTTAAACCGCTATTGCTATAGATTACGCCTGTGACGCACTGCCTCCCTTTCAGTGTTTCACCCTGAACATCTGCTTCTTAGATCTAAGTGACTGTACTCAATAAATAGTGTGGAGACCAGAACTCTGGGCCTTTTGCAGCCTCCATTTTGCAACTGCCTCCCTGGCCCCCACTCTTTTTGCACTCTTAACCTGTCTCTTCTCATTCCTTCGTCACCACCGGACTTTGGGTACCCTACAGGTGGTGTTGAGGCTGGTCCCCAACACCAGGCACTTTGTAGACACTTTACTTTTATTAATCTAAGCCTAAGAAGCACCCTATGAGGCAGGTGACTATTACTATAGGCTGGTGACCCCTTCGTCACAACTGCAAAGTACAGAAAGCTGTGGAAATCAAGTTTGTCTGTTTGTTCCACAACAAATTCATTGGTTGACAAAGCCTGCTGTGAATCTCCCTGAGGCTATATACAATCTTTATTTAACTCACTGGGTCTAACTATTCATAGTTTTTACTGGGAAGTGTTAGTATATTTGATTGGGGTGCCCTGTGGTAGATATAGCACATAATATATGGGGTATGTGTGTGATATAGATTTATAGATGAAGATATATATGTATACATATACATATTTTA 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TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCAATACTGGGACATTTTATATAAGAAACTTGAGCATCTGCAGATTTTGGCATCCCGGGGAGGTCCTGGAACCAATCTCTCAAGGATAACGAGAGACGGCTGAATACATGCAGGTCCACACGCTCACATAAGCGCGCGCACACTCGGAGGAGCATTCGCGCACACAGAGGCTCAGCGGCAGCGCCGCCTGCAGCCCAGGCACCTGGATGGCGATGGGCATCATCTTGCCCTCGGGTCCAAAGTGCAGCAGGCAGAGGGGGGCGCAGTGGTGCTGCTTCCGGCCGCTGAGCTCCACGGTGGGGATGCCCTCCATGATGCGGTAGTCGGCCAGGTAAATGTTCCCCTTCTGGAGGGGAGCCGCGATGGGTGGCAAGTAGGCACCCACACGGGAAGCCCGTGACCCGCGCCGCAGGTGCACAGGGCGCTGGCGACTAGGGGCAGGGGTGGGACGGGGACAGGGACGCGGGGTGCGGGCTTGCCTGGGACTGGCGCGGGCGCCGGAGGTGGGGAGAGACGGGGATGCCCGCGAGGGAGGCCGGGAGGAGGGCCGGGGTCTCCGCCGGAGCGGGCCTCACCTCCAGCTCCGCTTGCAAGCACGTTCCCTCGCCCAGGAACGGAGCCACCATGTCGTCTGTGACGGGGAACTTGTCTGGGATCCGCGTGCAGCGGCGGATCAGGCCGGGGTTGACGCCGTTGAGGTACTGGTACCCAAAGAAGGTGTCCTCTGCCCAGTGCTCGGCCACGTACTCTGCGAGGACGGCGCGAGGGCGTCACAAGGAGGCCCGGCCCCCCTCGGGGACGGAGAGGCATGGGACAGAAGAAGACTATGGGCACCGAGAGGAGTCGGGGAGGAAAACGAGGCCCCCAGCCTGGCGCTGAGCGGCCGGAGGAGCCCGGTGCGACATTTTCCAAGAAGCCGCCAGAGGGCGCGCGCGCGCCTCGCTGCCTCTCCCGTCCCACTGCCCCGAAGTCGGGGGCCTGCCTAGCACGCCGGAGACCGCCTGGCTCCCCCTGCTCGATCCGGGACGCCCCATTCCATACCGGAGACGACAGATTTCTTGCCAGGGAAAATTTTCCTAATGTCCTTCAGCCTCTTCCACGAATGTTTGCAGTCCAACAGGCCGCGGACTTTGAAAGCCAGTGCCCTAGGAGATGGGATTCCAGGAAGAGGCCTTCAGAGGGGCTGCCAAGCGCCGGCTGGGGCAGGTGGCGGGGCCGCCCCATCCACTTAGGTCTCTGGGTCTCAGGGTCTGTGCGTCGCAAAGTCTCTGGGTCCCATGTCTCAAGATCTTTGCATCTCTAGGTCTCTGGGATCATGTCTCAGGTTTTCTGGGTCTGCGTTTCAGCTCCCTCTGCCTTCCTGGCCATTCCAACCTCTGGGGCTGTCTTGGAGGCCGCCAAGGTTGGGGGAGAGGGAAAGTTCTTGCAGGAGCCCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCAGGCGGACGAAGAAGGAGGCCGTCTTGAGGAAGGAGTAGCGGAGATTTAAGTTCAGGAACTTGGTGGCCTTAAAGTTGATGAGAATTGGGAATCCCGGAATATAGCCATTCCACCTGTGGGGAGAAGCGCAGGGCAACTGGGATCCAGGGGGCGGGGAGGAGGCAGGCGCCCAGGGGAAAACCATGGGCGGGGCCCAGCACAGCTTCGGGTCCTTACTCAGGCCGGTTGGGGTTGCGATGCCTCCGCACCGGAGGGCGGTAACTGGGAATGTGCACATAGCTGGGCAGGCCAGGAAGAAAGACTCGCCAGCTGCAAGGGAAACCGAGATGTCACCCTCATGCCCGTGCACCACCCCAGGGCAAAGGGCCAGAGCCATCACTGCCCCCCACCTCCCTGGACCCCTGCCGGGCGCCCAGACTCTGCCACCCGCCCCCTCACTGGTAGAAGTCCTGCTTGGCTCTGATCTCCTCTTTTCTGTGCTCCAGGAGGACGGGGAGCGAGACATCTGCTGTTGTCTTTCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTACACATTTTTTAACACCCATTTATGGGTGAGAACATTCGGTATTTGACTTTCTGGTCTGGCTTGTTTCACTTAAGATAATGACTTCTAGTTCCATCCATGTTGCTGCAAATGACATGATTTCATTTTTTTCATGACTGAATAGTATTCCACTGTGTATATATACCACATTTTCTTTATCCAGTCATCCATTAGGGCACTTAGGGTGATTCCATATCTTTGCTAGTGTGAATAGCGCCACAATAAATAAGGCATCTTTTTGATATGTTGATTTCTTTTCCTTTGGGTATATACCACTGAAATATTAATAACTGACAGTTGTTTAGCACTTACTAGGTCCCAGGTATTGGGAAAAGGGCTTGTGGGGTGCCTGTATAAACTGGCCATAAAAATATGTGACAGTAAGCTGTGGAAAGTCACAAAAGGCCTCTGAGGAGGAAAGCGTTCTTATCGCCATTATGTTCCCATGCTCTGAGCGTTAACCTGCTGTCTTATCTATAAACACTGTGTTCAAGGAGAAAGACACTCCTTTGAAACCTGGAAGGTGGACAGACGCGCAGGCTCCTAGTTAAGCCTGTTCCCACTAGCTGCTCTCCGATAAGTTAAAGATGTGCTGTTTGAGCACAAAGGAGATTCGTTTAAACCGCTATTGCTATAGATTACGCCTGTGACGCACTGCCTCCCTTTCAGTGTTTCACCCTGAACATCTGCTTCTTAGATCTAAGTGACTGTACTCAATAAATAGTGTGGAGACCAGAACTCTGGGCCTTTTGCAGCCTCCATTTTGCAACTGCCTCCCTGGCCCCCACTCTTTTTGCACTCTTAACCTGTCTCTTCTCATTCCTTCGTCACCACCGGACTTTGGGTACCCTACAGGTGGTGTTGAGGCTGGTCCCCAACACCAGGCACTTTGTAGACACTTTACTTTTATTAATCTAAGCCTAAGAAGCACCCTATGAGGCAGGTGACTATTACTATAGGCTGGTGACCCCTTCGTCACAACTGCAAAGTACAGAAAGCTGTGGAAATCAAGTTTGTCTGTTTGTTCCACAACAAATTCATTGGTTGACAAAGCCTGCTGTGAATCTCCCTGAGGCTATATACAATCTTTATTTAACTCACTGGGTCTAACTATTCATAGTTTTTACTGGGAAGTGTTAGTATATTTGATTGGGGTGCCCTGTGGTAGATATAGCACATAATATATGGGGTATGTGTGTGATATAGATTTATAGATGAAGATATATATGTATACATATACATATTTTA 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Task1_train_23728 | Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAA 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AAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCTGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAA 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Task1_train_23729 | This alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCT 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GGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGAGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCT 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Task1_train_23730 | An alteration has been detected in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTC 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TGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGTAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTC 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Task1_train_23731 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAG 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TTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGGGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAG 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Task1_train_23732 | Here is a mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGG 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GCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGAAGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGG 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Task1_train_23733 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAG 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AAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGGGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAG 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Task1_train_23734 | The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTT 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ATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTACCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTT 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Task1_train_23735 | This variant impacts the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG 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GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCAACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG 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Task1_train_23736 | A variant affecting Chromosome 17, within the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCGACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG 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GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTACCGCCCCAGTTGCAAAGTCTCTCCCAAAGTGGTTCAGCAGCTGCTTATGGCTCTCTCCTTGTGTCCCCACAATGGTCAGTGAGATGGAGTCCCGTGTTCCCCACAAGAGGTCGGTGCCTGTGGCCACCCTGACTTTGTAGGTGGCCATGGCTGCTCTTCAGGAGGCAAGAGGGGCACTCAGTCCCAGACACCGTGGAGGGGCCACACGAAGGCCCAAGGCAGGCAAGAGAAGCCAGGCACAGAGTGGAGTGGACAGGGCTGGCCTCCGAGGTGCAGTGGTGAGGTGGCGAGGTGGGGTGACTAGGCCTGCCAGCCAAATTCTGGAAAAGCTGCTGCCCTTGGTGGCCGGGGTGGGTGCCGGGCAGGCCCAGGCGGAGCCCAGCTGGTGGTGAGTGAGCAGGTGTCTGGGCTCCAAGCCTTCTGGGAGCTGGTGGGGAGGAAGAGCAGGCAGGGCACTGGGCCTGCCTCTGAAAGGGCGGATAGAAGATGCCGTGGATGAAGGCGCCTTCAGGGTGGGGGAGCCAGTCCAGCCTGAGCCAGGGCCCTAGGGAAGTTGCGGGAGGGGGCAGGGTGTGGTCCCCAGATCTTTATCAGACTAATAAGCTCCTTCCTCCTGCCAGTCCCCATTGGCTACAGTGCCAGGCACCCCTACTAAGCAGGGCCATGGGCAGTGAGTGACTTGCATTGGTTCTGAGGCCACTGGTGGGCGGGGGAGGGGAGGGGGAGGGGCACTAAGTGGCAGCGCAGCTGGCCAGCCTCCAGGCCATTCCTCTCTGGGAAATGGGACAGGTAGTGGCCACAGTGAGAAAGCTGGCCTGTCCTTCTGCCCCAGGGCCCAGAGTCTGTGACTGGAAGGGTGGGAGGTGTTGAAGCTAGGGCTCGGGGACCACATGGGTGCCCAAAGGCCTGAAGATGCTGCGGGGAGGAACGATCAGGGTAGGAGAAGGGGATCTGTTGCTTCCTGTGGGGCCAGGATCCACTGGTGAGGGATTGGAGTTGGATATAAAATCAGAAGCCCAAAAAAAAAAAAAAAAAAACTAAATTAGAAGACAGAGTGAAATCTGGGGCATAAGAATTAAGTTAAATAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGAAAGCCAAGGCAGGTGGGTCACCTGAGCTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGTTGCAGTGAGTTGAGATCGTGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCCAAAAAAAAAAGACAAAAGAATTAAGTTAAATAATGGATTAATATGATCAATATTTTGTGGTATAATCATAAAATAGAATTCTACCCAGGAATAAAAAGAATGAACTGCAATGCGGATGAGTCTCACAAAGATGATACTGAGCAAAAAGAGCCAGACATTAAAGGGGATACGTTCTGTTATCCATTGATAGGAACTTCCAGAACCAGCAAAACTGAGCAATTCTCAGACAACCTCTACTGGTGAGTATCCCTGGCAGAGGGAGGCCATATAGGCTGCTGGAGGTGTTCTTATCTTGATCTGAGGGGCGTCTAGGGTACTTCATTCATTTCATTATGTGTTATCCTTTAATTTCATAAAGTACATACCCTCACTTCCCTCCCAAAAAAGAATGAAGCTAGGAAGAGGGCTGGAGGCAGGGCTGAGCTCCAGTGGAACTGTGTTTGTTGGGAACCAGGTCGTTCCTCCCTCAGATATGTAGTGAGCACGGTGCACGGCGTTCTAGGCACTGCAGAGGCAGAGAAGAAATGAAACATACATGGAGCTTACGGAATAGCTGGGAAAGAAGTGAAAGAAACAGTAAACAAGAATTTGTTCACTATAATTTTGGATACTAAGTGCTCTGAAGAAAATAAGCGTGGGAGGTTGGGATTGGGAACTAGTTGCTGATAGAATCACAGAAGTCAGAGCCGCAGGATAGGGAGAAGGTGTTAGGAGTAAGGTGAAGAGCATTATGAGAGAGTCAGAGATAGACTCTCCAAAGATAGGATTTGGGACCCAGGG 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Task1_train_23737 | Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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Task1_train_23738 | This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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Task1_train_23739 | Here is a variant affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lamellar ichthyosis | ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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ATAGAGCTATGTATTTGGTTCACATTTTAAAATCATGTACACAAAGGATCTGATTTAATAACTGAGACATGATGGCTCCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAAGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCC 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Task1_train_23740 | This variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCATTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCCTGATGCTGTTTCAGTTTTCCTCTTAGCATTCATAACCACCTGACATGTGTTTGTTGATTCTCTCTTTCTCTCTCCAA 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CCTCAGTGACAGCTGCCATTATTATTGTTGTTATAAATTTCCAAGTTAAACTTTCTATAGTTTATAGGAGAGAGCCCTCCACCCTCATGCTGTTGTCTACTTATCTGTCATCCCTCTGGGACCAGATAGGGACAGGACCCAGAGTCCTGCCATTCCCAGGATATAAGGTAGCAAGTTAAAACTTGCCAGGAAGATCAAATATGTGGGATCTTTCTTTTTTTGTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTGTGTCACCCAGGCTGGCGTGCAGTGGCGTGAACATGGCTCACTGCATTTTTTTACTTCCTGGGCTCAAGTGATCCTCCCACTTTAGCTCCCCCCAAGCAGCTGGGACCACAGGCACACACTAATACGCCCGATTAATTTTTGTGTTTTGGGTAGAGACAGGGTTTCACCATGTTTCCTAGGCTGCTCTTGAATTCCTAGGCTCAAGCAATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCACGAGCCACTGTGCCCAGCAACATCTGGAATCTTTCCAGCACCAAAGGGAGTCAAGCGTGAGAAATAAGAATATTCACCTGTTAGAGAGCTTGTGTGCAAGACGGCTGGGTGGAAACAAAGATGATGGGAACCAGTGATAAAGGGCTACTTGCCTGGCCTAAACTCAGATATTGGCCCCTCTCTAGCCTCCTGCCTCCAAAGTTGCCCTTTGCATCCATTCACGCAGCCACAGGAGCACCCTAGCTAAAGCAGATTTAACCATTGGGCCTCAGGCTTAAAAGTCTTGATTGGCGGCCGTGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCTGATATCGCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATGTGGGGGGGTGGGGGAAGCCTTGATTGGCTACCCTTTGTCTTCTAAACGAACACTGTGCAGACAAAGCCCTACCTTCCTCTCCGCTCTGCTATTTCCATTTGTGATCCTACAAACACACCAGTGATTTCTCGCCTTCGCTCCTTGGTCCTGTTCTTCCCCCTCCCTAAAAAAGAGCCCTGCTCTTCCTCTCTGTCCAACTCCTACTTGTCCTGCAGATTTCAACTTAGATGTCACTTTCTCCAAGAAGCCTTCCTGGGTTCCCCCAGACCCATTTAGGTTCCTCAGGGCCCTGTCCTTACCCCTATCACTGGACTGTAAGCTCACATGGACAAGTTTCATAGCTGCCCATAACAGTGTCTGGGTCACCACTGGTACTCAGGAAGTGTGTGTTGAATGGAGAAATTAACATATAAGTAACTCCTACAACACGGTGGTGCCCTTTTTCATTGACCTGTATGTCTCCTCAACTAGACCACAGGCTTCTTGAAGGCAGGAAGGTCTCAGCCAGCGTTATAGGCCTGGTGCCCAGTGCTGTGTGGACACATAGGAAGTATCCAACAAATGTTTATTGAATGTTTGCATTAACACATGAGTAGTTGATGAATGAACATTCGGATAAATGGATGGACGGACAGATTGGTAACTAAACTGGTATTTGCTTCAGTCTATGTCTTTTGGGATTATCATTTTCTGAAGAAATTGAAGAACCCAAGGCAGTTCTGCAGTGAACATAAATCCCGTCGATCAGTCCTCAAGCCCCCAGACGAAGCCACCACCACCCCTACTGGTGGCCCTAAAGAACCCTACTCCCCTCAACATCCCGTATACACACCTGGTCCTTGGGTTCTTGGCTAACCAACCAGAAGAGGAGGAGGTTGTTACAGCTGATGTTCACTTCAGGGAGGGTGTCTAGGTAAGTCTTCAGGGTGGTGGTCCCCTTGGTCTGGGGTGGGGGCTGCCTCATGGATGATGGAGCTTTGGGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCACCATCCCTGATTCCACCTCTGCCGTCCTAGAGGTGATAGTTGGGAAATGAGGGGATCACGGAAAGGCAAGAGAGCTGGGAAATGAGGGGATCATGGAAAGGCAAGAGAGGAAAGGGTAGGGAGTGGAAAGTCCCAGAAGTGGGGCAGGAAGCCAGCTTACTCCTTGTCACTCCCCGCCCAGTGTTCCAGGACTCGGTGGGGTGAGTCACTAGGGAAGGAGGTGGCCCCAGAGTGGAGGTAATCCTAGAAAAGGGCCTTGGGTTGCCATGCCACACAGAGCAAGCTGCTACTCCACCTGGCTGGGTTCTAACCATGAGAGGAGCCCCTAAGTTCTTCTCCCAAATTAACATCAACTTGAATCACCATTACAACCTTGGACCCAGCTCCACCCAGTCATCACCCAATGCCAACCCTTCACCCCACTCAGCTGCCACTCCAACCCCAAGTCTAATCATAAACCCACCCCAACGCTGACCCACCCAAGCTCTCAACCCAAATTCAGGCCTCAAGTCCATTGCTGAGACCTGATGTCCCCAGGCCTGCCCTTTGTAGCCTCACCTGCCCACTGTTGACAGCAGCGTGCTGGGCAGAGCAATTGAAGATGATTGCAGTGAGGAACTTCACCATCTCTCCTGGGGTGCACAGCCGGCTTGGGAAACCTGGGTGTGGGGAGGAAGGGTAGAGGGTGTGGATGGAAGGTACTGGATTCCTAGGGCCAGCTCAGGACTGGGGCTCACCACAGGGGGAAAGTGAGGAAGTAGGGAACACCGAGCCATGACTGTCTTGTCGGGCTGGTTAGGGATGGCCACCACCAAGATTTGTGGTCTCTGAAGTGGGTCAGGATAGGAGATGGGGGCTGGGATCTGGCCAGAAAATCCCCGGCAGGCAGGGCCAATGACAGAGGCAGCTTCAAGCCCAAGTGCCCAGCTGCCTCTCCCTGACTTCCAAGGCACTTCAATCTGCAGCCCCTATTAGGATGTAATGATTTAATCCTACCCGGTTCACCAAGATTTGTTCAAGCACCCAGTATCCAACCATCCTCTGCTGGGCTTAGCAGCAGAGACCCACGCAGAGGGCGTGTTACTGAAAAGCTCACAGTAACAGAAGCAGAAGGAAGCTTCTAAGACCAGAGCTTGGCTCTTTGAGGAGAGGGCAAGCAGGGCAGAAAGGGGCACCAGGAGCAGAGTGGTTAGTGGAGGCCTCCTGGAGGACAAGAGGGGCCTTGTGAGTTGAAAGATGGATGAGCCTCCAATGGAAAAAAGACAACAGAGAAAAGCATTTCAGGATTGGAGAGGGGAGAGCTCCAAGGCTCAGCCCTTGGTCCATTCATGCTGTGCCTCACTCATCTCATCCAAGTCCATGGCTCTAACCACCTCCCACTTGCCAACAACTCCCAAATTCCCTTCTCTGGCTGTGCCTGGCGTCTGAGCTCCAGACTCAGCCGTGGGCATTACCCTGGAGGCAGCTTACCTGACGTCCCCACCTAAGCATCTACACCACCTCACACTGCACACTGGCAAGGACAAATGCCCGTCAGATTACGTCACCCCTCGCTAAAACCCTCGGAGGGCTTCCCATCTCACTCACCTTGTCATGGCCCTACTTGATTGGGCCCCAGCCCCTTCTCCCACTTCATTTCCTTCCTGGCTGTTCACTTATTCGACTCCAGCTGTGCAGGCCTTCCTGATAGTTCTCAAATGCACCAGCACATTCAGAATTCAGGGCCTGCACACTTACTATACCTCTGCCTGCTACTCTTGCCCCAATTATCTTCAGAACTAGCACCTCTCCTTCCTTCAGCTACTAATGCATCAGCTCCTGAGAGGCCTGCCCTGGCCACCTCCCTGAAATGATCTCTTTACCTTGACACACTGTATCCCCTGATGCTGTTTCAGTTTTCCTCTTAGCATTCATAACCACCTGACATGTGTTTGTTGATTCTCTCTTTCTCTCTCCAA 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Task1_train_23741 | This sequence change occurs on Chromosome 17, altering ALOXE3 (arachidonate epidermal lipoxygenase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACTCTGTCTCGCACCAGGCGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCCGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAAACAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCAC 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CAGGTTTGCAAAACACAGGGAAGGGTCACCCTTTAAAAACTCCAAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTCGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCAAAACTGCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGCAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATTGTGCCTCCACACTCCAGCCTGGGCAACAAAGTAAGACTCTGTCTCGCACCAGGCGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCCGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAAACAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGAAGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCAC 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Task1_train_23742 | A genetic alteration is present in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGAT 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AAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCGGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGAT 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Task1_train_23743 | This variant impacts the gene ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCT 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GGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCGCAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCT 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Task1_train_23744 | The variant affects gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTC | AGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCTGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTC |
Task1_train_23745 | This alteration occurs within gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAA | TGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAAAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAA 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Task1_train_23746 | Consider a variant on Chromosome 17 in gene ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGT | CACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCTCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGT 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Task1_train_23747 | Here is a variant affecting ALOXE3, LOC130060198 (arachidonate epidermal lipoxygenase 3| ATAC-STARR-seq lymphoblastoid silent region 8151) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAAC 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ACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTTGGGGATATTAATAGTATCTACTTCAAAGGCTGGTCAATAAATAACTGATGGGAGTAGGGTGTGGCCAAGCAAGTGCTAGCTCATCAGAGCTACACGGAAAGTGGGATAGAGAGGGGATACCTGAGCTTTCCCGGCCCAGGAACGCCTGAGCAAAAATCTCGCCAGTCCAGGCCTGCAGCTCCGAATCCTGCTGCACAGATGCGTCACTGGGATAATAGTAGCCCACGATTTCTGAGACAAAGCTGCAGGAAAGAGATGCTGGTACCACTGGAGTAACCACGGGCTCAGTCCTGGCCAGGAAACCGAGGCCCACTGCTGCTCAGGCGGCAGAGAGACAGATAGCCATGGGGGTTCAGCAGGGACCCCCAGGTGCAGCTGGAATCTGAGTGGCCGGGCTTCCCTTAAGTCCCACTCACTCCTGAGCCATGGGTGCTCCACACTTCCTTCCTGCACAGGGGCCTGGGGGGTGGGCAGGGGAGTGCACGAAGAGTCTGATTCATGCTGCCACCCCCCTCCCCACCCAGGAGGAAGGAAGACCTGCCTGCCACAGGCCCCAGCCCATGCTTAAATGATGCACCAGCCCTGATACTCTGACTCCACTGGACACCCCCTCCTTCCCCTGCATCCACACACCCCCAAGCCCCTCTCTGGACGGCAGCTACCTGCCATTTCAGAAGGGACCCCAAACTCAATTCATACCCTCAAGAATTCCCTATGCTAGGGTGTGAAAACACCTGAAATCCCCAGGCGCCATGAGCGCAGGGACCACAATGTCCCAGGCCAGGAGACCCTGGTGGGACTGCTGGTCCCGCCCCGCACCTCGCACCTCTCAATGGCCGCCCAGATCTTCAGGCCGTCGTCTCGGTAGTGGTAGTTGGGGATAGCCAGGACGCCGCGGGCCCGCAGGCTGTCCGGAAGGCAGAAATTGGTGTAGGTGAAGTGGGCCAGGCCCGTGCTCATGAGGTAGATGAGGCCTTGCCTCCCGATGGACGTGACCTGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGACAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAAC 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Task1_train_23748 | This mutation occurs in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGG | TGAGGACACAGCACAGCTCGGCTCCCGGGCCGGCCCAATCCCCACCCTAGTGTCTGGGCACGAGATGGGGCTGGGGACTCGGCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCGGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGG 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Task1_train_23749 | Consider this mutation in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGT 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GCCCAAGGAGGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACAACATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGT 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Task1_train_23750 | A mutation on Chromosome 17 affecting ALOXE3 (arachidonate epidermal lipoxygenase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 3 | GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGTACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGTGCATCTCTG 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GGGCCTTCTTCGGTTCACCAAGCAATCCACGGATCAAATACCCACGAGGGCCTGCCTGACGCAGGCTGCGCAGCTTGACGCCCCATTACGTGCGTGGGAGGAGATCCTTAGGTATTTGGTAACTAAAAGAATGAACTGAAAGCCGGGGAGCCTGGCTGGGCTCAGGGTCAGCTGAGGGTAGTGCTGGGGCTCAGGATGAGGCTGCCCTGCCTGTGGACCCGTGGCCCGGCGGGGCTGGGGGCGGTGGGCGGGGGCGGTGAGGCTGCGGGGGCGGGGGAGACAGGGTCTGTGAAGGGGGCCGGTAGGAGACCGGAGACCGGCGGAGTGGGCGGGGCTGGTGGAAGAGGCAGTGATTGTACAGGTGTTCTCACACCCCAGGTGTCCTCACAAGGGGCTTGGGCGCAGAACAGGGCTTGGGGGCGGGTAGCGGGGCAAAGCGTCTTCGGGGGCGGAGATCAGTGACCCGGCAGGGAGGCCGCACCTGGTCCACGAGGCCCTCGGGGTTGAGCAGCGTGGCCCTCGCGATGGTGTTCACCTGCAGCGTGTATCGAGTGTGGGGGAGTAGGAGCTGCGAGCGGAGCGGATCACGTGAGCTGAAGGCCGGGGACAAGGCCGCCCGGCCCCTGCCCCGCTGGGCCCCCACCCGGGGTCGCGGACCTTGTAGATGGGGTGGCAGAGCGGCAGCTGGCGCAGCGTGGCCATGGCGAAGGCCTCGCACAGCAAATGCGTGCACAGAAAGTGCGTGTTGTTTTCGTGCACCAGGAACTCAGAGTTGCGCACCCACGTCTTGGCCAGCAGCCAGTCCCATTCGGAGTCAGTGGGCAGGAAGATGGGGCTGTCAGGCCCGGGGGTCTGGCTGAGCTGCGTCCGAAAGGAACGAGGGATGATGGGGCTCCGGGCTGGCGGTTAGCACCTGAGCCCCCATCCCGGGGCGGCGGCGCCGGGCTCACCTGGATGGCCAAGGGCACCAGCGCCCCCTGGGGGCTGAGCCACAGCAGGCACAGTGGGGCGGCCACGTACTGCTGGCGGCCGTTTAGGCAGTGGGTGGGGGCCTCCGCCAGGATCCAGTAGTCCGCTAGGAAGATGTTCCCCCTCTGCAGAAGGCACACAGAGGCTGAGTGTCCCTCCCTACTCGCGCTCCACTTCCCTCCCATTTCCCTGCCCACTTCCACCCCAGAGAGGAGCTGAGGCCCCCAGCTGAGGTCTCAGAAATTCTTGGTGCCTGAATTAATGGCCAAAGTGGGGTACCCCGCCCTTCCCAAAATGTCCGGAATGAGGTCCAGCTGAGTCCCTCCTTGTGCAACAGCTCGCCTGCTGAGACAAGCCAGCGTCCTCTCCTCCTCACCTCATACCTAGTCCTTCCCACTCTCAACTCAGATGGAATCCCCTTCTGACATCTGAGCACTATGTATCCAGCAACAGCTAAATGAACACATGAGAACTGACCAACCATGTCTCTAGCTTTCTGGAGGAGAATGCCTGAGGGCTTGACTGCCCCAAAAAGACTGGGTTAGCCTCGTCTCCGACAACCTCAGAGCTCCTAGTTCTCCGTGATCTTCCCTGATGCATCTGGTGGCCCTACCATTGGCCTGTCCTAAAACAGCTTTCCTCTAGGCCTCAGCACCTCTTCAGGAGGCCTCAAAACAAGGGCAAGCCTTCCTCAAAGATGTCCCTGCAGCCACCCTGCGCGTTCACACCATTTCACCAGGCCCCATCTCAGGCCTCAAAGCCTCCCAACCCCAGTCTGACCCTCATCCGTATCTGCTCTACTTAAAGTGTGCAGGACCATGGCTGCCCAGAGGATGAGGCCCACAGGTGAAATGCAGCCCAGGCCATTTCCATACCCTCCACACACATCCCTTGTCCATAATGGTGACACACCCACCTCCCACCTATCAGGCCCACTGCCCAGATCCTTACCCACCTCTAGCTCTGTCTGCAGGCATGTGTCCTGTCCCAGCAAGGGGGCCACCATGTCATTGGTGACAGGCAGCTTGCTGGGCAAGCTAGAGATGCAGTGGAGCATGACGGGATTGACACCATTCAGGCACTGGTACCCAAAGAAGTGATCTTCACACCAGTGCTCTGTGACATACTCTGGGATACAAGAGAGGGGACCAGTTGGTCTAGAAACTACTTCCCTAGATCCTAGTCCTGCCAAGTCCTTTGCTTATCATTGTGGTTTAGGTTTTCTTCCCAAAAACTCTATGAGGTAGGAATCATTATATCTTCAATTTAATACTAGACACTAAGGGTCAGAGAGATGGAGTGACTTGCACAGCTGAGTGGCAGAGCAGGGATTTGAGAACCTAAGCCTTTCTGGACCCAAAGCCCGGAGCACTTGGTGGTTGGAGTAGGGGAAGAGAGTCGTGTGTCCCTGATGAGGATCAAGATTCCCTAAATGACTGTGACCCTCTCCCAGGCAAGCAGAGTGTCTCTCTCTCCTGAATCCCCTGTTTTTGTCCCCTCCTCAGAGAAGGTGCTTTGTTCTCCAGAGGAATCTGGGAGATGCCACCAGTGAAGCCAGGAGCCCCTCCCACTCAAATCCAGCAGTCTCCCTGGGAGGGCTGGGAGAGGGCCCTTTCCCAGGAAGGAGAGGAAGGGGTCTGAGCATGAGATAAGGTGAGGGGTAGACATCTCCTGCCTGGCTCTGCTCACTTGTCGTGAAGGTCTTATGGCACCAGAAGATGTTCTGCATGTCATCCAGCTTCTTCCAGGAGCCCTTGCGATCCAACAGCCCTCGAAGCTTCATTCCCAAGGACCTGATGGGAGAGGAAAAGATGAGGGTGAGGTCTGGGGGCTAGAGTCTGCTGGGAATCACTGTGTGCCCCTCTGCCTGGAGGAACTGACGGGGTCCATCCCCAGAGTAGAGATGCCTAACAATCCACATGGGAGAAAAAGTCTAGTACCCGGTGGAGGCTCTGTGGCCTCGGAAGACCCTGGTTCATATGCAGCCATCCCTAAGACAGGTCATTGCACTTGCACATAAAGTTGGCACACACGGCCCTATGGTGCAGACAAGCCACCCTCACTGGTGTTTTGGCCTGTATTCTCCAAGCTGCCCTCTTGTCACAGACCTCCACTGGCTCCCCTCTGCCTACAGGACAGAGCCCCAGCTGCCAAGCCTGACTAGCCCATGGAGATCCCCACCAGCCAGCTTCTACCAACCTTTCCAGTATTTTCTCCCACCCTAGGCATTAGACAGGGCCAACCAAGACCCGCTCTCCAAACATGATCAGAGACATGCTTTGTACACTGGAAGGTAGAAGAGGGGCTGGCACGTGGAGAGATGCATACTCTTCACTTTGTGGATGTCTGTGCTGTTTGAATTTTTACAGTGAGCACTATTTTTTTTTTCCTTCTTTTTAAGATGGGATCTCCCTGTGTTACCGAGGCTGGAGTGCAGTGGCTGTTTAGAGACACAATCATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAACCTCCCAAGTAGCAGGCACTACCATGTAGTACCTCCCAAGTAGCAGATGTGCCCCACCATGCCCTGCAACATTATTTTATAATATGGAGAAGCATGCTTGAAATTAAAATGGCTTTCCCCCACTTCCAGGTCTTCATTTAATCTTCACCTCTGGTAGAAAGCCATCTACTCCATCTCTATGATAAAAATCTATCTCTTCTAGGCACAGCTCAGAAGCAAAGTCCTTTATGGAGCATTGCCTGAACTCCTCCTTGCACACATGAACTCCTCCATGAACACATGCCTTGGATCTTTCACACTCATCATTTCCCACATTGTATTGTAAGCCCAGTGGACATATATTATCCCCATTATACTATGAGCTCCTCAGGGCAAGGACTTGGCTATGTCTGCCCCACCATATCCAGTTCATAATATGCACTCACTAAATAAGCTGAATCAAAGGAAAGGGAATGGAGGCCAGATGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCCGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGTGCATCTCTG 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Task1_train_23751 | A change on Chromosome 17 affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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Task1_train_23752 | The variant affects gene ALOXE3 (arachidonate epidermal lipoxygenase 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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Task1_train_23753 | This alteration in ALOXE3 (arachidonate epidermal lipoxygenase 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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TGAGCCAAGATCGAGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCTCAAAACAACAACAACAACAACAAAAGGAATGGAACATGGAACAAGTAGGCGTGTGGCAATAGGTCAATAACATAGGATGTATAAAGATGTGTGGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAAAGGCAGATGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCGGCACTGCACTCCAGCCTGGGCGACAGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGTGATGTGCCCTGAAAAGTGTGGGCACCTGGGGAAGGGAGGGTGGCAAGGGGGGATGAATGATCGGACAGGCCCAGGAACGATGTCACCTGGGCTCCTAAGCACTCACTCACTCACTGCACACACACTCGCTGGGGGCCCAATTAACACCCAGTGGGTGGGAAAACCACGAGGAGTTCAATCATGAAAGCAGAGGCTGAGGAGTCTGGGGGCAGGGAGAGGGGAACTGGGGAGCACAAGGGGGAGACAAGGGCAGGAAGGGGGCAGGGGGCATGTAGAGAGGGAAGACTGTGGGGCAGGGAGAGGGAATGAGTCCAGAGAGGAGGGACTGGGGCAGGGAGAGGGGATACTGGGAATAGGGAGAAGGGGCAGTCTGGGAGCACGGGGAGGGGGATGGATGGGCAGAGATGTAAGATGTTCATTAGAGGGACAATGGCCTTACGCAGGGATGGCATTGAAGAGCAGCGAGATCGTCTTGGTGGCTGAGTATCGAACATTGGGCTCCATGTACATCAGGGATGGGATGTCAATTTTCATGGGGAAGCCGGGCAGGTACCGATTCCCACTGCTGGGGGTCGGGGGAGTAGAAAGACAGAAACCAGTCAGTGGGCCCTGAAGCCCAGCTGCTCAACTCCTTCCCTCTTTCCTGCCTTCCAAGTCCCTGGGTCTCTCTTACTCCCGGCTCCTCCCCTGCCCTCTCTGCTCCTGAGCTAAAATAACCTCCTCACTCTTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCCGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCT 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Task1_train_23754 | Mutation context: Chromosome 17, Gene ALOXE3 (arachidonate epidermal lipoxygenase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 3 | TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACTGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCTCCAGGAAAGACAGGGACCTCAATAGGGAAGGTGAGGAGGTCAGGGCCGGTATCCTGAGTTCAGCAGGATCTCAAGAGTCCAGGAGGAATACTCCTCCCGCCTGCGGCCCCTGCCCCTCTGAGGTCGCGCTTCCCTGTCTCCTTTGTACTCACCGATCCAGGGGCGAAGTCCCTGCCCATTCGATCTAGCCGCTGCTTGGGGCTTTCACCACACGTGCCCACCAGTGTGACAGAGATGTTGTCCAGTGTGCCGGCCCTCAGGTAGGGACCAGTGGTCACACACAGGCGGTACACTGCCATGATGGGAAGGAGGAAGGGATGCCCCGGCAACGCTGGCCGCAGCAGCAGCCGGCCTGGAGGAGAAGAGCGGCACGCCGGACAGGGCTGGGTTTCTGGGCGGAGGGCTAGGGGCTGCGGGGCTGGGTAGGGCTGAGGATGGGCCCAGCTCTCTCTGGGATGTTCCTGGGCTTTCTCTCTCCGAAGCTCCCTGCTGGCGGCTCGGGCTTCCTCTCTCCGCCCACAGTCTTGCACTCTAATACTTGTTTGCTTGCCTCTGACACAGCCGGTCCCTCTGGCTGGCTCACCCAGATGGATATCAGGAGCCTGGGTTCCACTGCGGAGGGAGGGATCAGATGCTGAGATGGAGAAAAGGAGGTAACGCCTGTATAATTGGGACACTGCCCTCCGCCTGGTCAGCGGCCCGGACTGATGCCCTGGAGTGCTTGTCCGCCCACTCCCCAATGTCCCCCAAGATCTGTTCCTCCCCATTCCCAGGCAGAGATGAGCACAGGGCACCTGCATTCCTACGTGTGAATCATCCGTGTGAATCACTAAACAGTGGAGAGTTGCACTTGGTCATAAATCACACGTGACTGCAGCCACACGCAGGTGAGTCGCACACGCATTCCAGCACATGTCAAATGGTCAGGAACAGCTCCCTGTCACCCCATACACCGATCCCCCCACGCATGGCCCTCTTTGTCCCCAGCCTTTGGCACGCCCGACCTCATTCTCTGCTCTGGAGTAGGGCAGGTCAGGAAAGCGAAATACAGCGCCGGCAAACAGGGTCTGAATGCCCCGCGTGGCATTCTTTCCGCTCCAGGACCGCCCTGGGCCTGCAGGATCCTGGGCGGGAGCCCAGGTGTCCGGGATCTGGGCCACTAGGGACTGGGGAGGA | TTGTCCCCTGTGCCAGACCCTTTGGGGCCATCTCCCATCCTGATGCTTGAATGAAACTGCATTGTCATAGACCCCTACCCCTCCTTCCTGGCTATCAGGACCCCATCCTCCCGACAGACCTTCCACTTGACTTCCTTTCCCCTCCTTCCCAAGCTTTAATCTTCACCTGTCACCCTGGTCTACACAAGTTGTCGTCTTTGTCAAGGCAAATTTCTTGTCTGACTCCATCTCCTGAAAGCTGTTGACGTCTACCATGCAGGGGAAGCCAGGGGCATAGATCTTCCAGCTTCCGAGGGAAAGAGGTCAGAGGTGGCAGGTCATGCTCGGGATAAACACAAGTCTTAGCTTTAAAGACACGGCTTCAGATTAAAACTTCAAAAACCACCTACTTTCTGGATGAGTGACAAGGAATTGGACATTTCTCCATGAAAGCACTGGCTTCACATAGGGTAGCATTTAAGGATGGCATTAATGCCCACACTGGGTTAGAGATGGGTTTGTGTTGAGATTAAAATCATGGCCGGTTTAGTGGGGGAGGCTGAGAAAGGACTGAGATTGGTGGATACTTCAGGTCACTTCTGATATTGGGATCTGGGTTACATCAGGGACAGTTGAGGGCTGAGTATGGATTCATTGGTGGTGTTGGGACAACTGTTACTATTGGTGTTCTCAGTTCAGATTCAGGGTCACTATTAAAGTGGGGTTAGGTCCAAATAAGAGTCCTGATCCAAGCTAGGCACCCAAGGTTGAGAATGAGGTTAGAGTTAGGAACAATCTGATTAAGACTGAGGTCAGGATAAAGATGGGGAAAGAAGTCAAATTAGGCCACCCTCACCGGTAGCATTCTTGTCGGGCCCGGAGCTCCCGTGTCCTGTGATCCAGGAGGAGGGGAAGAGAGTCCTGACAAATAGTTCTTGCTGTGGGGAATGAAAATTACTCTTGGTATAAGTCTCTTTTCCAACAACATCTTCTGCAAACCTTGCCTGAACCCCCTGACCCTTGAACCCAATCCGACAGCCACATCCCTGTGAAACACGTGGCGGTGCCCCCACGTTCTTTGTGTATTCATCAGTAGAAGGGATTCAAGACAGCTTCACCCCCAAATTATAGCAATCTTCCCAATTGTTGGCATGTTTATCTCCCCTCCAGACTATAAACTCCCTGAGGGCAGAAGTCGTCTTGTATTCCTTTTTCTTCTTTTTCTTCTTCTGTATTCCCGGCTTCTAGCATGGTGCCTGGCACCATGTGTATAAGATGCACTTTAAATGACTGATGAACAAATATATTTTGTGAAGCTATGGATGGATGTGCTGTGGAGATGGATGAGAGTTTATAGTGAGGTCTATGGAAAACTTATTACGGACCATGGGGTAATATTCATTTGCCTCACTTTGACCTAGAATATCCCTCCTTCATCCTGAGCCTCCTCCCAACACCCAGAGCAGCCCTACTGTTGCCTCTCCAGATCAGATAGCTCTGGAAACTGAAGATGCTCAAGCCCAGCATCTGCAGAAGGCCCCAGAAATTCAACAAGGAATCCTAGCAGCACCTCTCAGGGACCTCATCCACACTAGAAAAGCTAGTAGTAGGGGAGGGAATGGGGCCTCTCCAGCTAAAATCTCTGAGCAGCCAGGGCTTCTCTACCTGTTAAAATCTAATGACTCAGGGTGCAGGTTAGTTCCTCTCTGGGGTCTGGAGGAACTCACTCTGGAGAAGTGCAGAGGGAGGCTGTGGAAAGCAAAGTGCTTCCTATGTGTATGAGAGAAGGGTGCCTGCCTATATGAGTGTATGTGTCTATGTGAGTCTCCAGAAGAGTCAATACCGTCTGCAAAACCCTCGCATTTCAGGGCTTGAGAGGCTCCCTTTTTTCAGAAAACATCTACTTGGGAGCCCAGAGTTTCTGACCTCAATCTTATTCCCTATACTCTGGGGCTCTGTGAGACCCCACTCCTAATCCCAAAGGACACCTTCTGCAGTACAGTGTAGTCCTCGTCTCTGGCCCACCTGTTCCTGGCCTCAGCTCCACGGTGCAGTAGCCTTCAATCCACGGATAGCAGGGGAAGTGGGATACACTACCATCCGGTTCGGTGACACAGATGCGGCTACAGTACCAAGAGTCCTTGCGGAAGAAAGCGTAGCGCTCCTTGTGTACACGCAGCAGCAAGAGCTCACCCAGCTCCGCTGTGCAACGCACCTTGTACTTCTGTACCTGAGGGGACCAAGACAGCAAGCAGGTGAGAGGCGGGGAACTGCCAAGGCGGTCCTTGCGCCTTGCAAGATGCATCTACACCTAAGCCTATTCGGGCATACAAACCTGAGCTGCTCCCAGCCCATACCGGGCTTTTGTATGAATTAGAAAAAGCTTCCCCGGGCCGGGAGAGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCGATGAAACCGCTTCTCTACTAAAAATACAAAAAATTAGTCGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGACCTGAGATCACACCACTGCCCTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAGAAAAGAAAAAGGTGCCCGAGCACAGTGGGCACTGCATTTCACTAGCTTCCTAGGCCGGCTGGGAACTCTTGTGGAGGCCACCTGGGGCTGGCAGAGGCAGGCAGATCCCCTCGATAAGAGGAAACCCAGGCTCAGAGAGGGGAAGCGACTTGCCCAAAGCCCACGGTCAATTATGGGAGGAGTTTAGGAGCCAGGGGAAGTCCCTCTACTCCCTGTCCAACGCTCCTTCCTCTCCACAGTCCTGCCTGGATGGAGTTCATCATCTCCAGGAAAGACAGGGACCTCAATAGGGAAGGTGAGGAGGTCAGGGCCGGTATCCTGAGTTCAGCAGGATCTCAAGAGTCCAGGAGGAATACTCCTCCCGCCTGCGGCCCCTGCCCCTCTGAGGTCGCGCTTCCCTGTCTCCTTTGTACTCACCGATCCAGGGGCGAAGTCCCTGCCCATTCGATCTAGCCGCTGCTTGGGGCTTTCACCACACGTGCCCACCAGTGTGACAGAGATGTTGTCCAGTGTGCCGGCCCTCAGGTAGGGACCAGTGGTCACACACAGGCGGTACACTGCCATGATGGGAAGGAGGAAGGGATGCCCCGGCAACGCTGGCCGCAGCAGCAGCCGGCCTGGAGGAGAAGAGCGGCACGCCGGACAGGGCTGGGTTTCTGGGCGGAGGGCTAGGGGCTGCGGGGCTGGGTAGGGCTGAGGATGGGCCCAGCTCTCTCTGGGATGTTCCTGGGCTTTCTCTCTCCGAAGCTCCCTGCTGGCGGCTCGGGCTTCCTCTCTCCGCCCACAGTCTTGCACTCTAATACTTGTTTGCTTGCCTCTGACACAGCCGGTCCCTCTGGCTGGCTCACCCAGATGGATATCAGGAGCCTGGGTTCCACTGCGGAGGGAGGGATCAGATGCTGAGATGGAGAAAAGGAGGTAACGCCTGTATAATTGGGACACTGCCCTCCGCCTGGTCAGCGGCCCGGACTGATGCCCTGGAGTGCTTGTCCGCCCACTCCCCAATGTCCCCCAAGATCTGTTCCTCCCCATTCCCAGGCAGAGATGAGCACAGGGCACCTGCATTCCTACGTGTGAATCATCCGTGTGAATCACTAAACAGTGGAGAGTTGCACTTGGTCATAAATCACACGTGACTGCAGCCACACGCAGGTGAGTCGCACACGCATTCCAGCACATGTCAAATGGTCAGGAACAGCTCCCTGTCACCCCATACACCGATCCCCCCACGCATGGCCCTCTTTGTCCCCAGCCTTTGGCACGCCCGACCTCATTCTCTGCTCTGGAGTAGGGCAGGTCAGGAAAGCGAAATACAGCGCCGGCAAACAGGGTCTGAATGCCCCGCGTGGCATTCTTTCCGCTCCAGGACCGCCCTGGGCCTGCAGGATCCTGGGCGGGAGCCCAGGTGTCCGGGATCTGGGCCACTAGGGACTGGGGAGGA 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Task1_train_23755 | A variant on Chromosome 17 in gene HES7, LOC130060203 (hes family bHLH transcription factor 7| ATAC-STARR-seq lymphoblastoid silent region 8155) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGATAATTGAGTCCTATAACACAGTGTTAAGAGAACGTACAATAAATTATTTAAATATGTTGGAAGTTGAGCTAACATTTGAAAACATGTTAAAATAGAGATGTTATGAAGAAACGAAATAATAGAGATGTTATGAAGAAACGAAATATTGCTTCAGCAGTTACCATCAGGTCTTAGCTTCTGGGATGGATGCAGGCCTATGATCTCTCTGGAAGACCAAACACGGAAGATGATGGTGAAACCATTACCAGGGGAATTCGTAAAATTACTTTCTGCATGTAAATAGGTGTAACCTCACAGAACTGTTAACAGAACTGTAGCAGGTGCGTAATCCACCAGAAAAACTCCAGCCTGGCAGCGGTGGGATTCGAACCCACGCCTCCGAAGAGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTT 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ATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGATAATTGAGTCCTATAACACAGTGTTAAGAGAACGTACAATAAATTATTTAAATATGTTGGAAGTTGAGCTAACATTTGAAAACATGTTAAAATAGAGATGTTATGAAGAAACGAAATAATAGAGATGTTATGAAGAAACGAAATATTGCTTCAGCAGTTACCATCAGGTCTTAGCTTCTGGGATGGATGCAGGCCTATGATCTCTCTGGAAGACCAAACACGGAAGATGATGGTGAAACCATTACCAGGGGAATTCGTAAAATTACTTTCTGCATGTAAATAGGTGTAACCTCACAGAACTGTTAACAGAACTGTAGCAGGTGCGTAATCCACCAGAAAAACTCCAGCCTGGCAGCGGTGGGATTCGAACCCACGCCTCCGAAGAGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATACCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTT 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Task1_train_23756 | A change on Chromosome 17 affects gene HES7 (hes family bHLH transcription factor 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTA 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AGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATACCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTA 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Task1_train_23757 | The following genetic variant occurs in HES7 (hes family bHLH transcription factor 7) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondylocostal dysostosis 4, autosomal recessive | TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTACCCTCACTAACCCTGAAATAGAAGTTAGCACCTCTCAGCCCCCAGGCTGAATTTTATACATCATCTCCGAAGTTCGCTTCCTAGTCGAGACAGGGAGCAACCCGAGTGCGCTGGGTGAATCTGTCCGACTCAACCGAAGCTCTGCCGGGAGGTTGGAGAGGCGCTCTCTTCTATCTAAGCCAGTTACATTCAAGTCCGCGAACATCTGCGCGCCCACTCTGCGGACAGGGCACTTGTCTAGGCTCGGGCGAGTCATAGTGAGATACGCAGGAGAGACCCAGCTTATCCCTGCAGGATCTAATGGAAAAGACCATGTGACACCAAGTAGCTATTACAGAAGCCCAGTGAAGTAGGTGCTCCGGGAAAAGGTCTCCTTAAGGATGGCTGGACTGAGGAGGATCTTCAAGGCAGAGGGAGCAAGTCTTTGAAACATAGGTATGAGTGGAGAGGTCTTTCCACTTACAGTACAAGTATTTGATTCAAAACTAGTCATAGGAGATTCAGGAGTGTGGCTGATAGGACACCTCACGCAAGTGTGCCCGCATTGCTTGCTTCTGGAGGCCCCTGGTGACTGTAGGGTAGCAGGGAGCAGGCAGTTTACTAAGGGGAAAGCAAGGGGTACAAAAAAGGGATCAACACCCACCTCAAACCAAGAGCATGACCCTCCGCAGAACGATGCCTGACCACTCGAGGGCTTCA 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TCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCAGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTACCCTCACTAACCCTGAAATAGAAGTTAGCACCTCTCAGCCCCCAGGCTGAATTTTATACATCATCTCCGAAGTTCGCTTCCTAGTCGAGACAGGGAGCAACCCGAGTGCGCTGGGTGAATCTGTCCGACTCAACCGAAGCTCTGCCGGGAGGTTGGAGAGGCGCTCTCTTCTATCTAAGCCAGTTACATTCAAGTCCGCGAACATCTGCGCGCCCACTCTGCGGACAGGGCACTTGTCTAGGCTCGGGCGAGTCATAGTGAGATACGCAGGAGAGACCCAGCTTATCCCTGCAGGATCTAATGGAAAAGACCATGTGACACCAAGTAGCTATTACAGAAGCCCAGTGAAGTAGGTGCTCCGGGAAAAGGTCTCCTTAAGGATGGCTGGACTGAGGAGGATCTTCAAGGCAGAGGGAGCAAGTCTTTGAAACATAGGTATGAGTGGAGAGGTCTTTCCACTTACAGTACAAGTATTTGATTCAAAACTAGTCATAGGAGATTCAGGAGTGTGGCTGATAGGACACCTCACGCAAGTGTGCCCGCATTGCTTGCTTCTGGAGGCCCCTGGTGACTGTAGGGTAGCAGGGAGCAGGCAGTTTACTAAGGGGAAAGCAAGGGGTACAAAAAAGGGATCAACACCCACCTCAAACCAAGAGCATGACCCTCCGCAGAACGATGCCTGACCACTCGAGGGCTTCA 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Task1_train_23758 | Gene VAMP2 (vesicle associated membrane protein 2) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGA 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TGGGCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTGCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGA 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Task1_train_23759 | The gene VAMP2 (vesicle associated membrane protein 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCA 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GCAGTGATGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAGACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCA 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Task1_train_23760 | Here is a mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGA 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TGGGGCAACACCCCCCAAATTGGGGAGGAGGGTTTTCAGTCCAACCCCCAGCAGGGGTGAGGCCAGAGATTTCAGGCAGGAATTGGGGGGATTCTCTGCCCTGCCCCACTCCTCCCCAAGGCAGTGATGACCCCCACACACACACTGGTAGCCACCCCTCTCACAAGAGATCAATTGTGGCCAACCCCCAACTCTCCTGGTGGGAGGAGGAGGTGGATCAGGCAGATGGGAGGGAAACCCCATGGGAATGTCAGTTGAGTACCCCACATGAAAACTGGGGAGCAGGAATGTAGGGAGAAACCCGAAGTGGCAGAATTATTGGTCCATCATAACATACTGAACTTCAAGACACTTACATACCAGCTGGGGGAGGGAGAGGAGGGTACAAGAGGTTTGGAAAATGAGGGTAAGGGAGGCAAACTGGACTAGAGGGGCTAGGAGGAGGCAATGCTGGGGACCAGAGCAGCCTGGTTCCCCAAAAGCCCAGGCTCCCCACCACCTGCGAGTAATGTCGTGCAAATGAAAATGTGATACAAGAACTAATGGGGACTAACTCCTCAGTAAAAAAAGAAACACAGGTTGAGAGAAGAGTGATGGAACAAAAAGAAATGGAAAGGGATAGCAGTATGTAATGATACGCTAATTAACATGCTGGACGCTCCCAAAGACCTTGGGATTCTTAGGACCAAGTGGGGCCAGTCTCAGAGCCTCCCAATGGATACAAAGAAGATGTACCTAAGGAAGCCTGGACAGGTGCTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGGGCGGGGCAGAGGGAGCATGACGGGGAGAGTGAGGAGGAAAGAGGAAAGGAAGGCCAGGGTGGGAGGAAGGATCAGCTAAATCTGAGGGAAGAAGAAGGAAAGGAGAGGGACTATTGCATAGCAGATGCAAATGAAGGGACTTGGGGCTAGTCAGGAAGAAAGGGAAAGGGAAGGAAGGCAAGAGAGAGGGGTGAAGGGAACCTCAGGAAGGGGTGTTAAGGACAACCGGAAAAATCATCTAGTAATAAAACTACAAACAGACCAAATATATATAATATTATATATGTATAAATAACAGCTGGCTATTTACAGGGGGACACACACACGGACACACACACACACGGATCCAGGGGAGTGGGGGCTGAAAGATATGGCTGAGAGGTGGAGGAACGGCTGAGGGTTGGGGGAGAGGCCCTTCTCTAGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGGGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGA 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Task1_train_23761 | Consider this mutation in VAMP2 (vesicle associated membrane protein 2) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACATGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGACTGAGGTGGGGTGAGCTGAGGACCCCGAGGAGGAGGGCACAAGGCTGCCGGGGGTGATGGGGGCAGGGGCTGCTTCACGTGGTGGCTGCTGACTGGCCAAGACCTAGCTTTGCCCCAGGCTTAGGTCAGCGACCCGACTGCAGGAAAGGGCTCAGGCTTTGGTCCCAGGCACAGGGCCTGGGCCAAAAAAAAAAAAAAAGCCTTTTTTCTTTTTCTCTCATTTTTTTTTCTTTAGTAGTAGGCACAGTGGGCACAGGTTACAAGGTGCTGCTTTACATGCGTATTCGCCTCGCAGGTGTGACCTTGGACCGTTGCCCTCCTCTCTCTGGACCCCAAATACATTGCATATGTAGGTACTAAATCCATATTTGTTAAATGGCTTGATGTGGATAACATAGGAGATTATCCCTGGCTGGTCTCCATTAGGCCCTCTAAGCACACCCAGCAGCTGTATACACTCCCACCCAGCTTGTCAGAGAAGATGGGACCAGGGGAGCTGTCGCTCTGGTGGAGTGCAGGGGGTCAAAGCAAGCCTCAAGGGTGCAGGAGGCATTTTAGGCGAGGCCCTTTGGCCCTGGGGTGGGGGTGCTTACTACATCCCTGGAAGGTGCAGGGAGGCTGATGGCCTTGATCTCTAAGACAAACAGGAACCAGCTTCCTCCCTCCCCCACCCTGGCTTCCCAGGGCCTCCGGGTGTGAGATCCTCCCCCACTGCAGTGCCCCACCCGCTCCCCACAGAAGCCCGGAGAGTGGCTCTGTCACCAGAGGTGTCATTTCCCAGCTGTCTGTGGGAGGTGAGTGAGCAGGGAATGTGTGTGCTGGGTGTGGGAACTCAGCCCAATCTAAGAGAAGATACTCTTGGCTTCCTCCCCCTCAGAGGAGCAGCCGCGTCCCTGGTCCTTGTGCACTGACAGTCCCGGGTGGCTCAGCCTATGTGATGAGAAAGAAAAGAGCAGCTTCCACGGGGGTCTCAGATCATGCTGTGAGATGCTGGCTCCTGCTTTTTGGTCTTCAAATGATTCCTCTTTCTAGTCAGAGAACAAAGATGCCAAATTCCAGCCTTTTAAGTTCAAAACCCTCAGTGTCTGTCAGGGTATAAATAAGACATGGAGGATTGGAAGAGGCAGGCACAGGAAGCCCTTCCGCCCCCAGTTGGACACCCTGCACTAACTGAGGGGAGCCTAGTGCAGAGCCAGACAAGACATTTGATGC 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AGGCAGGGCAGACTCCTCGGGGATTTAAGTGCTGAAGTAAACTGTGGAGAGAGGGGAAGAAGATGAGGAAGAGGGAGAGGGGAGAGAAAGAGAGAGAACAAGAAAGCAGTGTGTCAGGCCTGGCCCTGCTCCAATCCTCCCCACTCCCCAGCTGGCTGACACCCTCTCTTGGACTCAGTTTTTCCATCTACAAAGCAAGGGGCTAGACAGGTAGGTTCTGAGGTCCCTTCCGCTCCATGGTATGGCCTTGAAGCCACAGACCCTAATCCTCTGAGCCTCTGAGACCGCAAGCTCTCAAATAATGGGGTGGTTGGCTTCCTGGTCATGTCTCAAGCCCCTGGTCCTTTCCTTTCTCCCACTCCTCAATTCCAGGGTTCTCAGACTGGGCTCTTAGGCCTAAAGGGTCCTCAATGGATACACCAGCTTTCCTATTTCCAAATGTTAACAAGACTGCCAAGAACTAGGCAAAATGCAGGCTAAATAACATCAAAGTTTTTGGCTCTAGATGAATCAGAATTGCCATTAGCAGCTATATGTGTTTTTGGCTGAAGAGTAAAAACTAGATTAATGACCTTCAAAACCTAGAATCCACTGGGGAAACCTCTCCAGGGAAAGGGCCCCGGCCATTCTCACCCTACTCACCTATGATGATGATGAGGATGATGGCGCAAATCACTCCCAAGATGATCATCATCTGGGGGTGAGAGGCGAGGATCAGTAAGACAAACTATGATACCCCATTCACCCACCTGTCCTCCTTCCTGTCCCCACCCTTACCTTGAGGTTTTTCCACCAGTATTTGCGCTTGAGCTTGGCTGCGCTTGTTTCAAACTGGGAGGCCCCCGCCTGGAGTGCATCTGCACGGTCGTCCAGCTCCGACAGCTTCTGGTCTCGCTCCAGGACCTTGTCCACGTTCACCCTCATGATGTCCACCACCTGGGAGAAGGGCCCACGAGGCAGGGGGGTGTGCCAAGGCCCACCTCAGTGAGGGCAATCCTCAAACATGTGCCCACCGTGCCACACATGGAACATGCACCCTGATACTGCCAGGTTAACATGCCAAGGACACACAGAACATGCCTAGCACACCTGGGGACATGCAAGGAGCACACATCAGGGGCATGCTGGTGACATCTCAGATGTCATAGCAACACCCTCCCTCTATGGAACCTCAGGCGCTCTGTCCATCACCAGAGCACACCTGCCCAGGCTGGCACACCCCAGGCTAGCAAAGCTGATTAACACCCCCAGCGCCCTTCCAAGTGCGTGCTGACAGGGAGACAGGGATGGGGCATGGTATCTTTGTCCGCAAACCCACAGGCGTGAACTGTCATCACTCCCAAACCAACATGGGCCCCTACACCTATACGCCAACCCCCAGGGTCCCTCCTACTGCTTTTGACTCCCCCCACACTCACCTCATCCACCTGGGCCTGGGTCTGCTGCAGTCTCCTGTTACTGGTGAGGTTTGGAGGGGGTGCAGGGGGACCACCCTCCCCAGCCGGGGCAGCAGGGGGGGCCGTGGCAGCGGTAGCAGACCTGAGGAGCAGGGACGGATTAAGACCCAGGGCCTGCAGCCTCCCGGCCCCGCAGCCAGGGCTCCGCCCATCCACCTGTCCATCCTCGTCCCTCCAGTCCTCCTTTTCGGGAGGAAGGCCACCCGATGTAAGCCCTGGTCTCGGTCCAGCCCTGCCGCCGATGAGCTGCGTGACCTTGAGCGAGGCCCCCCCGGCCTCAGTTTCCCCGCCTGTCAACTGAGGGCGACCTCACAGATGCGATCCGGGTCGACCCGAAAAGACAGGCGGCCGCGGTGACAGGGGCGGGGAGGGGCAGGAGGACACTGGGTCCGCTCCTTCCCGCGGCCATCGCCCGAGCCGGCCAGCCCGGGACGCGGGGCTCCTCGGCCGCCCGCGCGCAGTCACCGGCTTGGGCCTGGCCCCGGGGCGCGGGGAACGCAGGAGAGACCCCGGGCACTCCCGACGGCCGGTTGCCAAGGGCGGCGGCCGGCGCAGGGAAGCGCGGTGAGGGTGGCGGGCGGCCGACTCACACGGCGGGGGCAGCGGGTGGAGGACTTGGCAGCGGCAGTGATGGCGGCGGCGGCTCGCGCTGGCTCCGACTGGCGCTGGCTGCCCGGGACGGAAAGATGGCGGCCGCGCGTCACCCGCATCCGGGCACTGCGGGCGGGGGCGGGGCGCCGCGGGAGACGCGTCGCGAGCGGGGCCGCGGGGGCGGGGCGCTGCGGGGCGCTGCGGGGCGGGGGTCGTGCCGGGCAGGACCACGGGCCCCGCGCCACCATGCCCCGGCAGCTCCCTCGGCACTCGCGGGACCCCAAGGCGGGCTGCTGCGGCTTCCCCAAACCCACCGCCACCCCACCCTGTCTGACCACAGCCCCCCCAAACCGCCTGCCGCCTGCCCCTTAGAGCACAACGCAGCCTGGCCCTACACCTAACCCCCAGACCACTCCCTCAATCGTGAACCCAGTAAACCAGCCTGCACCCCACACAGCCCAAGGTCTTGCCCCGCGCCCAGGTCCCAGCACCTAGCGACCCGCCTTCAGCACTTGGAATGGGCTGGAGTTGGGAAATCAGAGAGGGCCAGTGCAGGTGCTGGGGCAGTATCGAGAGCGGGGACCTTACTGCTAGGGTGGAGAGGAGTGGGGGAGATTGGTCCCAACCCATCACCGCTGGTGGATGTCTCAGAGGAAGCCTGGGGTCCCTGGCCACTGGGTAGGAGGGTAGGAAGAAAAGATGAGGCAGGCTCTTCCCGCCCAAACAAGTCCAGGGGGCGGAGGACGGGGGAGTGTCTACAGGGTGTGGGGAGGGGGCTGCCCCGCCTCACGATTAAGGTTCAGACTAGGGGTACTTAACCGCTGGAGCAGGCCCGACTGAGGTGGGGTGAGCTGAGGACCCCGAGGAGGAGGGCACAAGGCTGCCGGGGGTGATGGGGGCAGGGGCTGCTTCACGTGGTGGCTGCTGACTGGCCAAGACCTAGCTTTGCCCCAGGCTTAGGTCAGCGACCCGACTGCAGGAAAGGGCTCAGGCTTTGGTCCCAGGCACAGGGCCTGGGCCAAAAAAAAAAAAAAAGCCTTTTTTCTTTTTCTCTCATTTTTTTTTCTTTAGTAGTAGGCACAGTGGGCACAGGTTACAAGGTGCTGCTTTACATGCGTATTCGCCTCGCAGGTGTGACCTTGGACCGTTGCCCTCCTCTCTCTGGACCCCAAATACATTGCATATGTAGGTACTAAATCCATATTTGTTAAATGGCTTGATGTGGATAACATAGGAGATTATCCCTGGCTGGTCTCCATTAGGCCCTCTAAGCACACCCAGCAGCTGTATACACTCCCACCCAGCTTGTCAGAGAAGATGGGACCAGGGGAGCTGTCGCTCTGGTGGAGTGCAGGGGGTCAAAGCAAGCCTCAAGGGTGCAGGAGGCATTTTAGGCGAGGCCCTTTGGCCCTGGGGTGGGGGTGCTTACTACATCCCTGGAAGGTGCAGGGAGGCTGATGGCCTTGATCTCTAAGACAAACAGGAACCAGCTTCCTCCCTCCCCCACCCTGGCTTCCCAGGGCCTCCGGGTGTGAGATCCTCCCCCACTGCAGTGCCCCACCCGCTCCCCACAGAAGCCCGGAGAGTGGCTCTGTCACCAGAGGTGTCATTTCCCAGCTGTCTGTGGGAGGTGAGTGAGCAGGGAATGTGTGTGCTGGGTGTGGGAACTCAGCCCAATCTAAGAGAAGATACTCTTGGCTTCCTCCCCCTCAGAGGAGCAGCCGCGTCCCTGGTCCTTGTGCACTGACAGTCCCGGGTGGCTCAGCCTATGTGATGAGAAAGAAAAGAGCAGCTTCCACGGGGGTCTCAGATCATGCTGTGAGATGCTGGCTCCTGCTTTTTGGTCTTCAAATGATTCCTCTTTCTAGTCAGAGAACAAAGATGCCAAATTCCAGCCTTTTAAGTTCAAAACCCTCAGTGTCTGTCAGGGTATAAATAAGACATGGAGGATTGGAAGAGGCAGGCACAGGAAGCCCTTCCGCCCCCAGTTGGACACCCTGCACTAACTGAGGGGAGCCTAGTGCAGAGCCAGACAAGACATTTGATGC 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Task1_train_23762 | A genetic alteration is present in LOC105371520, TMEM107 (uncharacterized LOC105371520| transmembrane protein 107) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATTTCAGTGACAGCTGGAAGGGCACTACCAAGGCAAGTGGTAGATTCAGAAACCCTTTCAGTATAAATACCCAAATCTCCAAACCAGAGACCCCACCTCTGAAAGTGTAGGGCAGGTGGCATGGGGGGTAGGGGATGAAACTTTAAAAGCCTACAGGATGTTGAGTGGATCTGGTATCTCACACATGGAGGAAAGGGCTGGGTAGGGGAAAAACCTTCAGGTTTAGGGCCAACCTTCCTCCCTCATCCCCAAATATTGGATGCTACCACACCTGCAGAAGACAAAAATGTACCAATACGTAGTGCACTCCCAACGCTCGAATATGAAGAAGGACAGGGCCACGGATGCACTACAGTGAGCCCCAATGGCTTGGGAAGGCACGAGATTAAGGAAAGTCTTTGGATCGACAGACAGTGATGGGTCAGAAAAGGCCAGTGGTGGGGCTGGCATCTGCATTCAGGTTCATCCCTTGCTCCCTCACCATGTTTCAAGGGCTAGAGTCAGCAGCTCTGACTTCTGAATTTTAGGACAGTCATGTGAGGAGAGACCAGAAGTGACTGCACAGATCGGACCTCAGGCTACCCTACCCCTTATCTGTGGGCCAGCCTGGATCCTTCAGATGAGAGGTAAGAGTAGGCTCTCCTTCTGCTATGCCACAAAGGAGTGCTGACAGCGACTTAATATGCGCTGGAATCAGCCTCCAGTGTCCTGGTCCTCCTGGTCCACAATTCTCTGACCCATGTGCCTCATCTCCTTTGCCTCTTCTGAGTTCCCAGTGCTCGCTTCCGTTGCCTCTTCTGAGTTCCCATTGTGCTTTATATCTTTTGTTTGTTTTTTGACAGAGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTTCCTCAGTCTCCTGAGTAGCTGGGATTACAGGAGTGCGCCGCCACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCATCGCGCCCTGCCTGTGCTTTCTATCTTCACACACTTCTATAGCACAGTGCTTATCACACTGAATTACAGATTTGTATCTACCTCCTCCTCATTGTAAAAAGAAACGGTGGGGTTTTTATTATTCCTATTATTTTTGTAGACTTGGGTTCTCACTATGTTGCCTCCTGCCTGCGCCTCCCACAGTGCTGGGATTACAGACGTGAGCCAACATGCCTGGCCAAAAACTGTATTTTACTCTCATTTTGGGATTTTAAGTGCCTAGTAAACAGCAGGATTTAGCACATCGTTGAAGATCTTTGAACTGGAAGGATTGGCTACAGCAGACACTATTGTGTCAGGTGGCTGAAGGGAGTCCTGATAGAAGTGGGTCGTGTGGGAAAGGTGGGCAGGCAGAAAGGATACAGATGAGGCTCTGGGTGCTGTTGAACATGGAGACTCCTGAGAGGAAACCGGCCAGCTCCACTGCAAAGAGGCCCAGGGTGACAGAGAGCGCGGCCACCAGCCTGCAGAGAGGAAGTGGACTGGCCCAGGCCTTTGGACTTATTCTAAGACCCCTCCACTCCCACCACCTCTTCGTTCTGGCCACCCCGTCCCAAGAGCTCACTGAATGTCCTGCTTGTCATACTCCTCGGGGGTGAACGTGAGAGGCAGGCAGGCCTGTATGTTGCTGTCCTGGGAGCAGGGCACAGGAAGAGAAGTGAAAAAGGGGCAGGCTGCAGGGCAGGCCTGGGGGCGGCGGGAAACAAGAAAACCCAAGAGGGTAAGACACTGGGAGGGGGCAGGGTAGGACTAGGACCACTCAGAGATGGGAATGGGGACGGATTGAGTGCAGCCGTGGGTCTTACCCGGGACCAGAATAAGGTGATGACGACCACCAGATGCGCCAGGAGCGTCAGGAAGCGAGAGGGCACAAGCCCTGAGACCCGGCCCATGGCCCTCGGGGACAAGGGCGGCGGTCTCTGAGGCTGGAAGTTCAGAGACAGCGACTCCTGAAGTCTCCCCGCAAGCCGACAAATCTAGACGAACGCCTCCTTCCCGCCCGCTCAGGCACCGCCCAGTTGCCTTGGTAACCGTGTACGCGGGCTCGGCGCCGCGTTCTCGGAAATCCTCGCGAGCAGTACATTCTCCGGCTGCTGCGGGTCTCTCAGGGCCAGCGAAGGTCAGGGGTACCCGAAGGCGCTTCTAACCTAACGGCTGGGTACCCGCGCGCAGCCAGGCCCTTTGTTCCTCAGAGGGTGCGAGGTGGCACAGCCCCGCAGCGCCCGATCTGCCCACGCAGGGCGGATGAACGGAAACCCACCCTGGCCTAGCTTGGGGACACCAATGCTTCTGCTGTTGCCCACGCCGGGAGCGGCCCCCAGCCCCAGCTACGCTGCCCAGTTGTGGATCACTTGAGACCGCTGCCACCACCACGCCGGGCTGAGTTCCCCGCCATGCCGAAGACTCAGACCCGCTCCCCTTCCCCTCCTCTGCATGCCTTTAGCTTCCCACCAAGCTGGGCCTGAGAAACAAGGGACCCGAACCTGGAGAGGCCGGTGTTCCTGGACTGCTCTGCAGTCACAGATTGTCACGGAGCCCCTGGTTGTCTGAGGACCCCAGGCCTGAACCTTCCTTGAGGAAGACTGATTTCTTTCAGACTACTTTGCTCAGTTTGGTGAGGGATTTGCAGAGTGCAAAAAATGGCCAGCGTCCTTAAACTAGCATGGGGATAAGAGCAGAGCAAGGTGGCTGGAAAGAGTGGGAGTGGACGAAGGGAATGGGACAGTCCCTGCGTCTCTGGGAGGCTTGGAGCCGGCTGGAAGGGAAACTCAACTCAGATTTCTTTGTCCCTTGGAGGTGCTGGGCCTCCGACATTGCCCAGCTACAGTCCAAGAAGCTCTTATCATCGGCGACCTCATGACCTTTGGGCCTCAGCGCAGGTCCCTGCAGATCTGAAAGTTCTTTAATTGCTGAGTCAAGTCCCATCCTCAAGGAACCTCCCGGCCCATCTCCCAGGAGAACAATCTCTTCCTACTCCCCACTCCCCATCTCAGTGCTTTTAGCCAGCCTAAACTACAAGCCCAAGAGGCATTTCTCATTCCTTCAACAAATATTTGTATATGTTTATTGATTACCTAGTAAGGGTATTCTAGTCAGGGAGATCAACAACAGACATGCAAACAAATAAATCCGTAAGATAATAGGCGCTACAAACAGGGAAAAGCGGGCTGTGCACTGTGGCTCACACCTGTAATCCCAGCGCTTTAGGAGGCCTAGGAGGGCGGATCACCTGAGGTCAGGAGCTCGAGACCAGACTGACCAACATGCTGAAACCCTGTCTCCACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCATGGGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTCTGCAACAAGAGCGCAACTCCGTCTCCAAAAAAAAAAGAAACGCTAGAATTATAATTCTATAAAAATAGGGCATTTATAATTCTATTAAAATAGAGCATTTATTTTGTTTTATTTTATTTATTTACTTTTTCTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATTTCGGCTCACTGCAAGCTCGGCCTCCCGGGT | GTTGTTTTTTTTTTATTCAGTAGTTCAGCCATCTCAATTGTCCCCTAAAACTGTATATAAGTCTTAATGTTACTACAAAACATATTTTATTACAAAGCACTAAATACAATGCGGATAATCCCAGACTCAAGACGTAATTATTCCAACACATATCCTCCAGCAGAAGCAGTTTCCGAGGGGAAAACCGAAGCCTATGCCTTCCTTCTTCCAGGAATACGAAGCGGCCCTTGCCCCTGTAGGCTTCGTCCTTAGGTTCCCGTCATGAAGGTAATCAGAAGGGTTTCTTTTTCAGCCCAAAGACGGTGACGAATAAAGCCATTTCAGTGACAGCTGGAAGGGCACTACCAAGGCAAGTGGTAGATTCAGAAACCCTTTCAGTATAAATACCCAAATCTCCAAACCAGAGACCCCACCTCTGAAAGTGTAGGGCAGGTGGCATGGGGGGTAGGGGATGAAACTTTAAAAGCCTACAGGATGTTGAGTGGATCTGGTATCTCACACATGGAGGAAAGGGCTGGGTAGGGGAAAAACCTTCAGGTTTAGGGCCAACCTTCCTCCCTCATCCCCAAATATTGGATGCTACCACACCTGCAGAAGACAAAAATGTACCAATACGTAGTGCACTCCCAACGCTCGAATATGAAGAAGGACAGGGCCACGGATGCACTACAGTGAGCCCCAATGGCTTGGGAAGGCACGAGATTAAGGAAAGTCTTTGGATCGACAGACAGTGATGGGTCAGAAAAGGCCAGTGGTGGGGCTGGCATCTGCATTCAGGTTCATCCCTTGCTCCCTCACCATGTTTCAAGGGCTAGAGTCAGCAGCTCTGACTTCTGAATTTTAGGACAGTCATGTGAGGAGAGACCAGAAGTGACTGCACAGATCGGACCTCAGGCTACCCTACCCCTTATCTGTGGGCCAGCCTGGATCCTTCAGATGAGAGGTAAGAGTAGGCTCTCCTTCTGCTATGCCACAAAGGAGTGCTGACAGCGACTTAATATGCGCTGGAATCAGCCTCCAGTGTCCTGGTCCTCCTGGTCCACAATTCTCTGACCCATGTGCCTCATCTCCTTTGCCTCTTCTGAGTTCCCAGTGCTCGCTTCCGTTGCCTCTTCTGAGTTCCCATTGTGCTTTATATCTTTTGTTTGTTTTTTGACAGAGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTTCCTCAGTCTCCTGAGTAGCTGGGATTACAGGAGTGCGCCGCCACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCATCGCGCCCTGCCTGTGCTTTCTATCTTCACACACTTCTATAGCACAGTGCTTATCACACTGAATTACAGATTTGTATCTACCTCCTCCTCATTGTAAAAAGAAACGGTGGGGTTTTTATTATTCCTATTATTTTTGTAGACTTGGGTTCTCACTATGTTGCCTCCTGCCTGCGCCTCCCACAGTGCTGGGATTACAGACGTGAGCCAACATGCCTGGCCAAAAACTGTATTTTACTCTCATTTTGGGATTTTAAGTGCCTAGTAAACAGCAGGATTTAGCACATCGTTGAAGATCTTTGAACTGGAAGGATTGGCTACAGCAGACACTATTGTGTCAGGTGGCTGAAGGGAGTCCTGATAGAAGTGGGTCGTGTGGGAAAGGTGGGCAGGCAGAAAGGATACAGATGAGGCTCTGGGTGCTGTTGAACATGGAGACTCCTGAGAGGAAACCGGCCAGCTCCACTGCAAAGAGGCCCAGGGTGACAGAGAGCGCGGCCACCAGCCTGCAGAGAGGAAGTGGACTGGCCCAGGCCTTTGGACTTATTCTAAGACCCCTCCACTCCCACCACCTCTTCGTTCTGGCCACCCCGTCCCAAGAGCTCACTGAATGTCCTGCTTGTCATACCCCTCGGGGGTGAACGTGAGAGGCAGGCAGGCCTGTATGTTGCTGTCCTGGGAGCAGGGCACAGGAAGAGAAGTGAAAAAGGGGCAGGCTGCAGGGCAGGCCTGGGGGCGGCGGGAAACAAGAAAACCCAAGAGGGTAAGACACTGGGAGGGGGCAGGGTAGGACTAGGACCACTCAGAGATGGGAATGGGGACGGATTGAGTGCAGCCGTGGGTCTTACCCGGGACCAGAATAAGGTGATGACGACCACCAGATGCGCCAGGAGCGTCAGGAAGCGAGAGGGCACAAGCCCTGAGACCCGGCCCATGGCCCTCGGGGACAAGGGCGGCGGTCTCTGAGGCTGGAAGTTCAGAGACAGCGACTCCTGAAGTCTCCCCGCAAGCCGACAAATCTAGACGAACGCCTCCTTCCCGCCCGCTCAGGCACCGCCCAGTTGCCTTGGTAACCGTGTACGCGGGCTCGGCGCCGCGTTCTCGGAAATCCTCGCGAGCAGTACATTCTCCGGCTGCTGCGGGTCTCTCAGGGCCAGCGAAGGTCAGGGGTACCCGAAGGCGCTTCTAACCTAACGGCTGGGTACCCGCGCGCAGCCAGGCCCTTTGTTCCTCAGAGGGTGCGAGGTGGCACAGCCCCGCAGCGCCCGATCTGCCCACGCAGGGCGGATGAACGGAAACCCACCCTGGCCTAGCTTGGGGACACCAATGCTTCTGCTGTTGCCCACGCCGGGAGCGGCCCCCAGCCCCAGCTACGCTGCCCAGTTGTGGATCACTTGAGACCGCTGCCACCACCACGCCGGGCTGAGTTCCCCGCCATGCCGAAGACTCAGACCCGCTCCCCTTCCCCTCCTCTGCATGCCTTTAGCTTCCCACCAAGCTGGGCCTGAGAAACAAGGGACCCGAACCTGGAGAGGCCGGTGTTCCTGGACTGCTCTGCAGTCACAGATTGTCACGGAGCCCCTGGTTGTCTGAGGACCCCAGGCCTGAACCTTCCTTGAGGAAGACTGATTTCTTTCAGACTACTTTGCTCAGTTTGGTGAGGGATTTGCAGAGTGCAAAAAATGGCCAGCGTCCTTAAACTAGCATGGGGATAAGAGCAGAGCAAGGTGGCTGGAAAGAGTGGGAGTGGACGAAGGGAATGGGACAGTCCCTGCGTCTCTGGGAGGCTTGGAGCCGGCTGGAAGGGAAACTCAACTCAGATTTCTTTGTCCCTTGGAGGTGCTGGGCCTCCGACATTGCCCAGCTACAGTCCAAGAAGCTCTTATCATCGGCGACCTCATGACCTTTGGGCCTCAGCGCAGGTCCCTGCAGATCTGAAAGTTCTTTAATTGCTGAGTCAAGTCCCATCCTCAAGGAACCTCCCGGCCCATCTCCCAGGAGAACAATCTCTTCCTACTCCCCACTCCCCATCTCAGTGCTTTTAGCCAGCCTAAACTACAAGCCCAAGAGGCATTTCTCATTCCTTCAACAAATATTTGTATATGTTTATTGATTACCTAGTAAGGGTATTCTAGTCAGGGAGATCAACAACAGACATGCAAACAAATAAATCCGTAAGATAATAGGCGCTACAAACAGGGAAAAGCGGGCTGTGCACTGTGGCTCACACCTGTAATCCCAGCGCTTTAGGAGGCCTAGGAGGGCGGATCACCTGAGGTCAGGAGCTCGAGACCAGACTGACCAACATGCTGAAACCCTGTCTCCACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCATGGGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTCTGCAACAAGAGCGCAACTCCGTCTCCAAAAAAAAAAGAAACGCTAGAATTATAATTCTATAAAAATAGGGCATTTATAATTCTATTAAAATAGAGCATTTATTTTGTTTTATTTTATTTATTTACTTTTTCTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATTTCGGCTCACTGCAAGCTCGGCCTCCCGGGT 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Task1_train_23763 | The gene CTC1 (CST telomere replication complex component 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGATTCAGGGAATAGGAAGCAGTAGGTGCAATATAATTCTGTTACCAGAAGGCAACTGGCTCCGGGTAGAAACTTCCGGATAACAGCAGAGGGTCAGAAAACAAAACACACACAAAAAAAAGCCACCCACTGGCCCGTACGGGGTTCGAACCCGCGACCTTGGCGTTATTAGCACCACGCTCTAACCAACTGAGCTAACCGGCCACTAACTTTCCGGGTCTACTTCAAATCTTAATATAGGGTATTGCTACCATAAAAGCAGCATAAATCCCAACATATGGGTTTAACCACGCTCTAAAGGTCTCCCAAACACGAACAAATCCTAACAGCCAGGAAGAAATGGCCTCCCAGTAGCTCTGAAAGATGTGCCTCAGCTCATCTTTCCACCTCTCCATCTATCAGTCCCCAGTAAAGAAATGCAGCAACACCAGCCAAAGGCATTGGTATCTCCAAAGAATTGTTCCTAGATCCCCTAATTGTACGGTTGTGATTTCGGAGCACCTTCTGGTCTCAAGGTATATCGATCAAGGATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTTTGGCCCTGGCGGCAAAGGGCTGAAATGATGATGAACGACTAGGAGTTCCTAGGAGGTGGACAACTAGGAGTCAGGAGGCCTGGGACCCCAGAGATGAGTACCAGTGAGAAATGACACCAGAGGGCTTCATTGCAGGTCAATAGGCCTGTCACCATCACCCCACAGCGAGCAAGTCTTTTGTTCCCTCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAG 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GGGTGCCGACTGGATCATCCCATCCTGGAGAGAAATATGGTCAGTATGCTGAAGAAAAAAATATGACGTAGTCGGCAGGATTCGAACCTGCGCGGGGAGACCCCAATGGATTTCTAGTCCATCGCCTTAACCACTCGGCCACGACTACGAGGCTTAGGGCTTCGTTTTCATCCAATGCCTTTCTTACTTCCCTTGACTGACAAACATCTGCCTCCATGAAAGCGCTTCAGGGAAAAAAAGACGCGGCGGTTGCACGTGAACCTTCCTTTCACCCGGGTGCCCAGAGACTCCTCCCTCCAAGCCTTCGGGAGCGCTAGTGATTCAGGGAATAGGAAGCAGTAGGTGCAATATAATTCTGTTACCAGAAGGCAACTGGCTCCGGGTAGAAACTTCCGGATAACAGCAGAGGGTCAGAAAACAAAACACACACAAAAAAAAGCCACCCACTGGCCCGTACGGGGTTCGAACCCGCGACCTTGGCGTTATTAGCACCACGCTCTAACCAACTGAGCTAACCGGCCACTAACTTTCCGGGTCTACTTCAAATCTTAATATAGGGTATTGCTACCATAAAAGCAGCATAAATCCCAACATATGGGTTTAACCACGCTCTAAAGGTCTCCCAAACACGAACAAATCCTAACAGCCAGGAAGAAATGGCCTCCCAGTAGCTCTGAAAGATGTGCCTCAGCTCATCTTTCCACCTCTCCATCTATCAGTCCCCAGTAAAGAAATGCAGCAACACCAGCCAAAGGCATTGGTATCTCCAAAGAATTGTTCCTAGATCCCCTAATTGTACGGTTGTGATTTCGGAGCACCTTCTGGTCTCAAGGTATATCGATCAAGGATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTTTGGCCCTGGCGGCAAAGGGCTGAAATGATGATGAACGACTAGGAGTTCCTAGGAGGTGGACAACTAGGAGTCAGGAGGCCTGGGACCCCAGAGATGAGTACCAGTGAGAAATGACACCAGAGGGCTTCATTGCAGGTCAATAGGCCTGTCACCATCACCCCACAGCGAGCAAGTCTTTTGTTCCCTCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGTGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAG 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Task1_train_23764 | Here is a variant affecting CTC1 (CST telomere replication complex component 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC 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TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCAGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC 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Task1_train_23765 | A variant found in Chromosome 17 affects CTC1 (CST telomere replication complex component 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Dyskeratosis congenita | TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCGGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC 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TCAGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAGTACTCTGACTCTCGGATAGAAAGGCAGGACAATCGGAGCCTGGGGTTCACGTGAGTCAGGAAAGGGAGCTCTCCACACTGGAATCGCTGTAGCCGAGGAGGTTCTGAGGTGGGAAGAGAGGAAAAACACACGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAACCCTTTGCCAAAAGCCCAGGAATTTGGGTATCCGAGTCCCTCCCTCCCAGCCACATTACACCTCAAGTTGGGCTCCAGGCCCTGCAAACTGCAAGACCACTCTGCCTGGCACTTGGACGAAATCTAGGAGGGAGGCCCACTCTCTAGGACACAGCCCTAGTGCTGCTGCCACATGGTGATTCCTACAGGTCACCACGGCTTCGGCAGTCCCATCCTCCACCAGGAGCCTATGGGGAGCAGGAGGAAATAAAAACGCCTATAGCAACCCAGGTTGCCAACACCCTGGACCCAACATGCCTCCCTCCCCGCTGTCTGCAGTCTTTGGCTCACAGATTTAGGAGCTTACCCTCATTCATTCGTTCAAAAAATATTAAGCAATTCTCATGAGCCAGGAATTATGCTAATGTAGAAACTGCAGATAGACAAAGTGGTCTCATAAGTAAATGGCACAATGGGTGCACGCCTTGTGCTCTCACCTGATGATGGCCTGGCTTATAGCTGTCTGCGTAGGGCAAGTGGAGCCCAGGCGAGTGCACTTTCCCTGGGATGAAGACAGTGGTTGGAAAAGTCCTCTTGGTCCCATCACATCCCTCTGGCACTCCATACTCAGTTCAGCCTGTTCCTTCCCTCCCTTACCTGCCGGCAGATGCTGGTACAATAAGCACACACCCAGAAGAGCTGAAGGCTGAAGACAGAGACGATATGGCAAGAGGCAGTGGCCTGGAATGGGGACTGACCACCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAATGCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATAACAGAACAGGCAAAGGGGTTCTGAAAGCAGGGTGGGTCTAGAAGGACTTAGAGGGCATCAGGATGGGGACAGCAGTGGGTTCCATGCGCTCCTAGAAGCCCCATTTTAATTCCTGATCTCTGATAGTCATTGGTTATTTTTCAGGTTTGAACACCATGATGTTAGCCAAGAAATATTTGCATGTTAAGACTGAAAAGCCTTCAAAAGCCTAGAACACTAAATGATTCTGGGTACAATGATAGACACAGAGCATTTTTTATTTGGAGTAGAGAAGCTCCTCTGACTCAACACATCTTGTTGGGATTGGAGAAGACTGTAATGATGGCAAAATCTTCAGAACCAGGGACATGTGGGAGATGCAGATGTGAAGCCAGGAAGTTTAGGGGTTGGGGTCTGGGCACTGACCTGATGGTGGTCTCAGGGGGAAAACTCAGGACCTGCACATAAGTGGATGACCAGAAACAACAATAAACATTGTGAGATCTGCAAGTGGAAGAGGAATAGTGAGTGACCAGGAAGACAAGGCAAATTGGGGTAGAAGCTGGGACTCAGAGATCAAGCACCACAGAGTGGCCACTCCCCCTGAGGGACATATCCTAGCCATGGCTCTACCAAAGCTAGGGGAAGACTAGGAGGAGGACCAGCCTGCAACACCTCGTGAGGGTACTGGCTGGGCACAAATGGCAGACTGATATATGGAAACCTGTATGAAAGAGAAGGGGTCGCTGCAGCAAAGTTAAGCAGGGGTGCACATTCCAGAGAGCCACATCAGTAGCAAGAGGAGGCAGGTGACACTACACATCTTCACCTGGAAACCCTTTTCTCCAACTGGCTGAAGTGGACCCGGGCTCCTGGAAGTAGTCCTAGTGAGGGAGGCAAGTGTGGGTCTTCTATATATACATCCAGGTGAGGGGGGAATTCACATTCAGCAGTCTCAAGAGCGACTGTTAGCTTCACACACCTTCTCATGGCCCCCGTGTTCCCTATAGAAGGAAGGTGGGTGTTAGTAGGATCTGTGAAGTCCACAAAGTCCCATCACTCTATTTCATACCTTCCCCACAAAGGAAGGGTCATTACCCAGTTTCATCCAGAGAGACGCCACAAGGGGTTCACATAGTGTCCGTGACAAAATCTCAGCGGAGAAAGACACCAAGGAATCTGTGAAACTGGAAGGTCAGGGAAATACACTGAGAATGGAGGCACAAGAAAGCACAGAGTGGAGACAGTCAGATTCAAGGCAGAAAATGGAGCTAAAGTATCTGCTAGAACTTCATATATAAAGTCCTGAAAAAACCTGAGCTCTGCCACACTGCACACTAAGAGTAACAGGGCCTATGGGAAAAAGAGGGTTGTGGCAGATCATTCAAAACCCGCACAAGGTGGCTCACGCCCCTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGCTCACTTAAGGTCAAGAACTCAAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCTGGGTGTGGTGGCGTGCACCCCTATAATCCCAGCTATTTGGGAGGCTGATGCAGGATAATCCTTCGAACCAGGGAAGTAGAGGTTTCAGTGAGCTGAGATCAGGCCATTGCACTCTGGCTTAGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAACAACAATAACAAAAGAAATACCTCCTGCAGCAGAAAATGAAGTCTTCACCAAACCCAGCTAGCTTGGGAGAAGAGAGAGTGGCCAAATTAACCAGAGGGGCTTGGTGGACATTTACTTGTCACTGAGCAGGTCGGTCAGTGAGGATTCAGGCAATGACTTGTTTGCATCCAGCACATCTTGGATATCCTGGGAGCTTTCAAGCTCCAGAGTCCAGTTGTCCTGGACAGTGAGGCAGGATGCACAGCCAGCCAACTCCAGAGGACGCCGAGATATGCAGGATGAACCATCCTTTTCAAACAACATTGGTGTCTGCACGGAAATGGGAAGACGACTGCCTGTGAGTGTGTGCTAGTCCAGTGGGAGGTTCACAAAACATTCTGACCCAATTTTGTTCTTTCTGGAGCATGGAGAAGGAAGTGTGTCAACACACACAGGCTTTCTGGTGTATCTAAATCCAGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCATGCCCTCTTTAGACCCCAACCCCAAAAAAGCTTTCTGGGGAAAGGTATGATGAAGTAGGACACTCACAGCGGGGCCAGGAGCTATGAGTCGGTACACCTGTCCCGGGTGCAAGAACTCAAACCAGCGGACTGAAGAGCCAAAGAAAATGAGGTGAACCTGGGAGGATGGAGAGCAAAGTGCTGGGATCCTAGCCAGAGGCTCAGGGCGCAGGTCAGGTCCTGGGTCCCTGGAGTCCCAGTTTACCTTCTGATCATTGTCGTCATTTCCCTGGGGCTCGGGCAGCCCCCATCCAGTACCCTCCTTCCTCTGGGTGCCCCCAAGCCAGCTCCCC 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Task1_train_23766 | An alteration has been detected in CTC1 (CST telomere replication complex component 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dyskeratosis congenita | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAGCCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT 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ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAACCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT 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Task1_train_23767 | A variant has been detected on Chromosome 17 in CTC1 (CST telomere replication complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 1 | ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAGCCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT 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ACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCCCCTAACACACACTTTTAATTTCTATATTTCTATATAACCACCCTGCTGCAGAAAAGGAGCCTATGAAGGTAAGAGAAGCTGCAGAGGTCTCTTTTTGTTATCAGCCCTGATCTCACATACCTGCAGACACACTCCAGGTCGCATCACCCGCCTAAGGCCACGGAACTGCTGGTAGGCAAGGCAGAGCCCCAGCTGCCCATCCAGCTCATAGAGGCCAGCGGGCTCATTCAACACGCCAGTGACTGCTCCCTGCAAACAGGCCGAGGTCCAGTTGACCACTATTTTCTTCCTCTTTGAAAACCCACATTTCTGGCCCCTCAAGCTCTAGGATCTCTCCCTGTGCTCACCGAATAGGATAGGAGTCTAGAATACCGGACAAGACTTTCTGGATCCTTCTTGTCCTCCGAGTTGCTGGGCATGGGGAGTGGCTTGGGGTCAGCCTCTAAGAGGGGTCCTTCCAGCTCCAGTTCCAGCTCCTGCACACATTCTGGTTTCAGCAGCAACAGACGGGAGGACTGACTGGTCATCCAAACATGCTGGCGCTGACCACGGATCTTGGACACTCGCAGTTCTGTCAGCACATAGGCTGTACCAGGCCGAAGGGCTCTGTGCCACACCAGCTGGGCAGGGACCTGGCTTGTGCAGAGACAGGCAATGTGACACAAGAGACCCCAACACTGCCACTCTGCCAGAGTCCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCAATGATTTACAATTTCTACCTTGGGTACTATGCTCAGTACCTGGGTAAAGAGATCAATCATACCCCAAACCTCAGAATCACAAAATATACCCAGTTAATAAACTTGCACATGTACCTCATGAGTCTAAAAGTTGAAATTATAAAAATAAAATTGTACCAGTTGATGCAAAAAGAGTCAACAGTAAGTACCAAGTTTTTTTTTTTTTTTTAATGCCTGTATTCAATGTCTCAATGGTGTTAAGATGAATGATTTCTTTGGTCATCTCCACAAGTGAGCGTGGCAGTTTTTTAAAAGGTCACATACAATCTAAAAGCTGTGTGCTCAAGTGAGTTGCACAGCGGGAAAGTCTACTCCCTAACTCTATGCACAAACATTTCCCGGAATCTTCTCCCAACAGCGCTATTCCAGAAAACAGCTCTCCCCAGCTGTCCTCCTTTCCTACATGGCTCCTCCTATGATGCTATCTTTCCTACTGAAAGTTCTACCACCCTCCCCCACTTCCATGGCTGAAATGACCCCAGTCCTCACCTGCACGATGATGGACACGTGGGTGACAGCTGGGTGTGATCTACCAAGAGACAGGATGAAGTAAGCTTTCTGTTTACTTTTCACCAGAGCACTCAATCGAACTAGACTCCCAACCAGGTTTCGCTGCACACCTCTGAGCTTGTTTCTAAGAAGGAAGAAAAAGCCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTAAGCTGAGATCCCGCCATTGGACTCCAGCCTGGGCAGCAGGAGTGAAACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGTCATCTTTATTTCTCTTCTTTTTCCCTATAAATGCTGTCCCTTCCACAGTAAAGAATAACCTGGTAATGATACAAAATGTCCATAGCCCAAAGCAAGCTATGCTAAAAACCTTCAAAATTCTCTTTCCCTTAGGTAAGGCACAGATCCCTTGAACAACCCTTCTCTTTACCTTCTTAATATTCAAAGCCCACCATTCCCTTGATTTGGAACATTCAGTCTATATTACTATCAATGCCCTTTTCTTTCTCTCCCTCCACTGACCCAGCATCATCCTTCAGTTTTACAGCGCCCCTGCCATGCCTAGAGGGGGAAATTACCTGAGCCTGAGCAGGCAGGAAGCACTCTCTGGGTAGAGGACAGGGATAGGCGTGACGGGGCCAGGACTGATGGTCAAAGGAAACACTGGCACAGGGGCATCCCACAGCTCCAAGTGCCCTTCCCCTGAGGAATTCCACCTGGCAGGAGGGAGGTAACTCCAACGGGGGAACAGAAAAAGATGGCCCAACCAAGAAAGGTCCAGGTCTATGAGCTAAGAAAGACCAAGAGCAAGGGTTAATCAGAACCTTAGCATCCTATCCACCCACCTCCCCGTTTGTTTCCTCAGAGACTTAATTGCCTTGATCCTTGGACACCATTCTTGTCAGGATCTGAGGCATCTGATCTCCACCTTCCACTCACCTCACAGCTCAGGACGCCAGTGTTATCTCTCACATAGAGGCTTCCGTTCCTGCACTCTTGTTCCAAGTCTGCCGATAGGTCTGTTAGTGTCCCTAAAAGTAACAGCTGCTCTCGGGGCAGGGGGTTCCCATTTGGTCCAGCCTCTTGGGCCCAGGCCTGGTATGCACTACTGCTCCACGACAGGTGGCTGCAGCATGGGAGACGCTGGTGAGTCTTGAGGTCCTGTACTGAGACGAAGCTGTAGAGTGAAGGGAACAGAGGTCCTGCAAAGCCAGGTCCAAGCCTACTAAGGCAACCCTCAACCCTGATAAACCCTCAAGAGCCCAGGGAAAGGTTGCAGGGAACATGGACTAAGAGGTGAGTTTGATTGATTAAAGGGGTAAAACCTGGGGCTAAAGGCCTAAGAAAATAAGGATGGGGCCGGGCGAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGTGTGCAGCTGTAATCCCAGTTTCTTGGGATGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAAAATAAGGATGGGATCTGAGTCCAATTCCGTGCTGAATAGTATCTTCAACAAGATGGTGCCAGGGAGAGGACCCAGAGAAATGAAGTAGGAATGCATGAGGGGCCTGAGGAAATGAATGTGTGGGGAGAACACTTTGTAAGTAACAAAGGCAATTCTCTTGAAAGCATCTCAGCTCTTAACTCCAGAGAGAACTTAATGGGACCACGTAGGCATCTAACAGTCCAACTACAATGACCCCAGTCAAGCTCCTTTCTAGTCTAGAATAGCACAGTACTAGAGACTAGGGGGGAAGCTGAGGCTGAGATGTGGGTGTTGGATGTGATACAAGTAATGGTTAAATTATCAACGTTGTGATAAATTCACCTTTTTGTAATACCATTATTCTCGCTTGCATTCCCCTGAATTTTTTTTTTT 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Task1_train_23768 | The gene PFAS, CTC1 (phosphoribosylformylglycinamidine synthase| CST telomere replication complex component 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Dyskeratosis congenita | TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCATGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGC 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TTAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCGTGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGC 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Task1_train_23769 | This alteration occurs within gene CTC1, PFAS (CST telomere replication complex component 1| phosphoribosylformylglycinamidine synthase) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Dyskeratosis congenita | TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCATGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGCA 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TAGCCTGGGAAGGTTGAGACCCGCCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGCTGAGATCTCATTCCTGAGCTTTAGTCCTATCCATCTGCCAGACTCTCCATGGCCAATCCACAGGCAGCACACATGCCCAACACTGAACTTTCCACAAAACCCTGTCCTTTTCTAGAACTCTTCTAGTGTTATGTTCACTAACTTAGCAAATAGTACCCTTAACCAAACAGTTGTTCTATCCTGAAACCTAGATGTCCTCCTTAGCTCCTTCCTTTCCCTACATAGGTCCCAGTCCTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTCGGAGGCCAAGGCGGGCAGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTGTACTTAAAAAAAAGAAAAAAAATACAAAAATGAGCTGGGCATGGCGGCGCGTGCCTGTATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGTGACAAAGCTAGACTCCGTCTCAAAACACACACACACACACACGCACACAAACCAATCCTTTAGATTGTATTTTCTTAACATCTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTGGCTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACTTCCGTGGTTCCCTGCTCAGCTTCCTGAGCAGCTGGGATTACCGGCGTGTGCCACCACACCCAATTACCCTCATGTTAAAGTCGCTGCTTAGCAAGAGGTACAAAACTGTCAGCTCTGACCCCTCCACCACCACCCAACTGAACTTTTGAGTTTTTCAGACACCTGCTCTATCCTCCTGCCTTTGAATATGTGTTTGCTTCCGTCCTGAAACCCCTTCCGGCGCTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCGTCTACCCGGTTCAAGCGATTCTCCTGCCTCAACCTTCTGAGTAGCTGGAATTACAGGTGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCCGCCCGCCTCCGCCTCCCACAGTGCTGGATTACAAGCGTGAGCCACCACACCCAGCCCCTTTCGGCGCTTTTTGCCTTCTACACGCACTTCGGGTCTCAGACGCTTTTACTTATTATGGTTGCCCTTTTCCCCTACAGCTCCGTCAAGGGTCTTCTCCAGGAACCCACAGCCCCATAGTTCCCCCATTAACCTGCTCCTGGTTTCCCACCAGGATTAAACCCTAGAGAGTGAACGGAGACCAGTTTAAGGCTCACAGCGGGCGCCGCGTGAATGAGGGAATAAACATTCGCAGAACCAGTAAGAGGTAGGAGCGGACCGACTCACAACCCCCTCACCCATGGGCCGGACGCGGCCAGCGAGCCCAGAGAGACAAGGCAGAGGAAATAGGAAGAGAAAGAGTATCTGTGACAAACAAGAAAAAAGGAACAAGAGACGTAATAGCAGCACTCACGGAGGAAGGGACCTGGGCCCGGCCAGCCGCCACGATGCGCCGGAGCTCCGCCCCCGGGAGGGGCAGGTGCTCGCTTGGGGGTGGGGATGGGGGTGGGGGGGCGCTCGGTGACGTCACCGGTGAGCGGGTTTCCTCGCCACCTCCAGCTCCTTCTCGCTGCTCACCCCCTCGCTTCCTAGAGACTCCGCGAGGCGCCTCGGTGCACCATCCCAACTCCCGACACCCCTGTCTCTTTTCTCTGATTTTTTTTTTTTTAAGACGAAGCCTGGTTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGGGATTTTCCGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCTGCCACCACCACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACACAGCCCCTGGCCCTCTCTGATTTTTTTGAGACGAGGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCCCACCAAGTAGCTGGGATCGCAGGCTTGCACCGCCACACCCGGCTAATTTTTGTATTTTTCTGTAGCGACATGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCCGCCTCGGGCTCCCAAAGTGCTCGGATTACAGGCGGGAGCCACCGCGCCCAGCCTCCGTCTCCCTCCTAAGTGACATCCTGTCCGGCATCCCGCAGGCCTTCAGATGGATGGGGTAGCAGAGCTCAGGAACTCAAACACAGCCCGCCTGGTGGATGACTTCTAAGCATCTTTCAGTCTCCCTGATCTTGCCAAGCAGAGAAGGGCTTCCTCGTAATGCCACCAAAGCACAACTTTCACATGCTTGCTTTATGGCCTTAACTAACTGATGTCATTACTTAACTGTCCCCGCGGGGACGGGGAACTGAATGTATTTTCACAAACGTCAGTTCAAGACAGATTTGTGGGAGAAACCACCTGGGGATAAACCTCTCCCCACCAAGAACCTAGAATTCGGCCGGGTGGCTGGGGAAAAGTGGGCGGGGCGTAGTCGCCCCGGCGCTGGCAGGTCCAGTCTCTGCCCGCGGCGCACGCGGATGACGTAACAAACGCGCGCGACGATTCGAGGTGCTCTGTGGCCGCGAGTGCATCTTCCACGTGAGTATAGTTACCGCGTGCGGACCTGGATCCTCCTCCAGGTGCAGCGTTTCGTCATCTAGCCCAAGCTTGGTCTGGCGGCTTCAGTATCCCCACCGGGCCGAGCTGTGTCTACTTGGTGCCCGCGTATTTGCTTTAGTGGAGGCGTCCATTCGTCCTATCTTGCGTGCGTTCCGCAGACCCCAGGCATGGCCGACCCCCATGTAAATTTAGCCCCATTGTCCCATTCATGGATTCAGCTAACAGAAAGACTGCCGGCCGCCTACTTTATATCAGGCACCATGCTGGTCATGGAATACAGCCCTCATGCACGCAAACCCTGTCTCTGAGCTCTTGAAGCTTATATTTTACTGGGAATGATAGACGGAAATCAAGTGGCTTAATAAACAAAATGCCTTCAGGAAGACTGTCCTGAAAGTTGGGGAGGGGCTGAAGAGTGGTGAGAATCAAGAGTTCATTAAGTCATTCCACAAGTTTTAGAATTTTTTTGCGTTTCAAGCCCTGGTATTGTTCTAAGCCTTGGTAATTCAATGGAAACGAAGCAGCAACATCCCATGCCCACGTAGAGATTTTTTTTCTAGTGGGGAATATAGAGCGAAAAATAAAAACATCCAATAGTGATAAGCGCTTTACAGGAAATTAAAATAGGGCCGGCCATCTGATAGTAACTACTTGAGTGGCTAGTGAAGCCTTTTCCACGAAGGCGAATCACCAGAAATCTAAATAACAAGAGCTAGCCATGCA 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Task1_train_23770 | Here’s a variant in MYH10 (myosin heavy chain 10) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Wide nose | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23771 | An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epicanthus inversus | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23772 | Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance. | Pathogenic; Hypertelorism | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23773 | Consider a variant on Chromosome 17 in gene MYH10 (myosin heavy chain 10). Determine its clinical classification and disease relevance. | Pathogenic; Abnormal facial shape | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23774 | Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital ptosis | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23775 | Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Midface retrusion | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23776 | A variant found in Chromosome 17 affects MYH10 (myosin heavy chain 10). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital ocular coloboma | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23777 | Assess the clinical impact of this variant on gene MYH10 (myosin heavy chain 10), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Wide nose | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23778 | Here is a mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Epicanthus inversus | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23779 | An alteration has been detected in MYH10 (myosin heavy chain 10) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypertelorism | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23780 | A genetic alteration is present in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Abnormal facial shape | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23781 | The following genetic variant occurs in MYH10 (myosin heavy chain 10) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital ptosis | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23782 | Consider this mutation in MYH10 (myosin heavy chain 10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Midface retrusion | CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCCGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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CATGGCCTGCATGTTGACCTCCAGACGAAGCTTGGCATCTTCCGTGGCCTGGAGTTCGTCTTCCAGCTCCTCCAGCTGGGTCCTCATTTCCTCCACCTGCTGCTCTAGGGCCCGTTTGGATTTTTCAAGTTCGTGAACCTAAACCACCGAAGCATCAGGAAAGAGTTGACCGGGGTGGAGGCACATATGAAGAACAGCAGTCTTACTGTTTTACAGGCCCACTCGTGGCATGCTGGCCACTTTGGTCCCCCTGGGCCGGCCCCCTGCCACATGCATACACATCCTTCCCTCTCCCCTGAAAGCTGCTGCTATTCTCCATTTCAGTGTATGCAGTTCAGAACTACAGTGCGGATGTCTTTATTCCCACGTGTTCTCTGGTCATCCTCCTCTGATGACCTTTAAGCTGAGAGCTCTTCAGTGAGCCAAAGAACAAAGGAAACAGCCATGTCAGGGAACCTGTCTGTTGACTGACTCCTTGCCTGCTGTCTGTGAGGAACAAGTACAACAGTACATCTCTTCTTGCTGTAGAGAAGATCATTCGTATTGAAAAGCACATGTGGAAACTGCTGATTATTAGGGTGGCTTGGGCCTAAGAAGCAGGGCACAGTACACAGGCCTTGATCTTTCTCTGGACAAAGATGCCCCCAGCACCATTTCCCTCATTCTCTGCGCCAAGCACTGTGCTGAGAGCTCCACCTCCTGTGCCCTTTGACCCTCACAGCAGCCTTTGGAGGGAGGCCTTGGTGCTGCTGTGCACCCCCTCTGGGGTCCAGGACCACTGCAGTTCTCACGGGGACAGGCGCGGGGAATCCTAGGACAGGAGGAAGGTCCATTTCTACAGTGTCTGGTGCTCAGTAGGCACAAAAGACCTGTTTGTGGGATCAACATGTGAGTGTTGATGCTACAGAAAACGAACATGAAATCAACTGTAGAGTTCTCTCTCCACATTTCACTGTGTAACCATGGCCACTTCTACTTTCAGTGGCCTCTTTTTGTCCATGGGGCTAGTCCCTGGGCGCCAAGTTGTAGGAGACCCAGCAGAAAGGTGGGACCACCTTCGCTGACTTATGATGTGGCCAGATGGCCCATAGCACATGAAAATGAGATCCTGCCTTTTTAGAGGACTTTGTGTGCTTTTCAAAGCAGATGCAGTAACTTCATGAAATTGGGCAAGTATAATGTCCATCTGGCAGATAAGGAAACTTAGGCTTCAAAAGCTTAAGTGGCTTCCCATGGTCAGAATGGAAGCCTGTGGAGGAGCCAGGGAACCTTGCCTTTGATACCAGGCCTGGGTTTGTTTTGCTATCTTCAACACGTCATACACTAAGGGAGAGACGTAGGGTAAATAAATATCATGGCAGCTCTTGTGGAAGATGTATGCAATGGAAAGAAAAACTGTGCCACAGAAGCTTCCAAGCTGTGGATAAGCCCCCAAAGCTACTGAAGCTCTCAAAGAAAACAGTGGGGCCTCCCTGGGAAGAACCAGGTCAGAGGGAGCTGCCATTCCCTCCTCCTCCTCTCCAGGTCCCCACTCACCTCATGTTTGATAACTACCTGTGACGGCAGAACCATGAAACCTTTTGTTGAAAGGCCCTCCTGCCAGGATGCAGGCTGGAGCAGGGAGGGCAGTGAAAGGACAAGAAGAAACATGTTCACCTCCAGCCAGTGCTGGGGGAAGACTGCAGAAAACCTCACAGCAGTCCCAGAAGACCTGAACCCCGTACGCATGCACAGGCCAAAACACTCCTAGATGGCTTTGCTGCTGGGCTGTGCATTCCCAGGTCCTTCAGGCTCCCCTGAGGAGTCGCCCGCTCCTGTGTGAAGGCCCAGGCCCCTGGGATACTCTCCCGTGCGGAAGTGTGGAGCCCACCAGGCGACTTACGTTTTTTCCCACATCATCTTTGGAGCTCATGAGGTCTTCCATGTCTGCTCGGAGCTGCTTGTTCTGCCTCTCAAACTCCTCCTTGGCCTCCAGGGCTTCCTCGAGGGCCCGGGCCAGTGACAGGGCTTTGGTTTCTTTCTCTCTGGCCTCGGCTTCGGCCCGGTCCGGCTCTTCGGCATAGCGAGCAGAGATGCTCTTCTCTTCTGCTAACAGCTGTGCAGAAGGGGATGGGGGAATACGAAAAACCGAAACAGTGACATCAACTTTTCTCTTCCACCATGTGGCTGATTTATCGCTAGAGTGCTGCCACTAGATTATGGTGTTCTTGTATTTCCTTTTTTTTTTTTTTTTTGCTTTCCCTTTTTCCAATTTTGATATAAACATGTATCACATTTAAATGCCTTTAAATAAGATTATTTTAAACCAAACGAACAAAAGCAAGAGCTCTGCCAGGAGGAAACGACACGTGGCCGACCCACCTGGTCAAACTTCTTCTGCTTCTTCTCCAAGTTGGAGGCGACCTGGCGCTGGTGGTCCAGGTCCACCGTGAGGTCGTCCAGCTCCTGCTGCAGGCGGTTCTTGGTCTTCTCCAGTTTGTCATACGCCAGTGCCTTCTCCTCCAGGCGCTGGCTCAGGGCCTCCGCGTCCTTCAGAAGCTTCTTCTTGGCTTCTTCCAGACTTTCAATTGTTCCCAGGTCGTCATCTACTTTCTTCTTGGTATCAGCCAACTAGGTTTTGTGTACGGACAAACAGAAAGCTCAGTATTAATGTACTCAATTGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATCGCCTGTCTGTAGTCTCGGCTACTGGGGAGGCTCAGGTGGGAGGATCACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAAGTGAGACTCTATCTCAAGGAAAAAAAAAAAAGAACTCAATTGGTTTTTGCCTTTGAAGAAAAAAAAAACCTTTTGTTTTTAATATTTTGAGAGAAGAAAAATCAATACTGTGATTTTAAAACAAATGAGTCTTAGACTGTCACTTAATTTCTTAGCTAATAGTCCATAAAATGATGACTGGATTGAAATCTTACATCGTTGACACAGTCCTAGGTCCTTATTTTAAGGGCTTCCAGCATTATAACCAGCATGTGGCTGGGTCAAGAAAAACCATTTAATGGGCTTAATTTAGTACGACCTAATTAACTGTCCCAAATGGAGCTGAGACAGCCCAGCACAGCAGGGCCAGGATCTGCTGAAGGCACACATCGAGGCCACCGCGGCCTCCTAAAGAGGACGCACACCTGGGACTGCAGGGCCAGCACTTGCTTCTCCAGGTTCTTCCTGGCCTCCTCCTCCTCCTCCTGCTGCTCCTGAAGACTGTTCTTCTCCTCTTCCAGCTGCCGGATCCGACTGCTCAGGTTTAGTTTCTGGCGTGTCTCCTCCTGAAGAAGCTCCTGTGTTTTTTTTTTAAAGGGCAACACTTCCATTACATTTATCACCAAAACAAATACACCTGTATTAAAGAATTCATGTCGTACAAAAGAGACAGCCTCAATGCATGAGAACGCCCAGTGACATTAACAAACACAGATGATTTAAAAACACACACGATAACTTTGTAAAAGCTCTTCACACCAACACTGCTTCAGACTCATCTCTGAAAAACGAATGGCGGCGCCATCCACCCAGGGGCCCAGGCTGGAGCCTCCAGGCATCCCCGAGGCCTCCCCTCCTGCGTCCCCCACCACACCCCGCCTCTCCTCAGTCACGCCTGGAATCCCTTCCTCTCCACCCCCTGCCCCGTCTTAGTTCAGGCCCTCAGCCCTTCGAACTAGGATCACCTCTCCCGTCTTAGGCATCCCTCAGTTATCGTCCTTTGTATTTCCTGCCAGATTGACTTCTAAAATGTAAGCACAAACATGTTTTTCCTGTTACTTTCAGACTGCAAAGTCTTCAGAGGCATTGGTTGTGTGGAGCAGAATTTCTGGGCCATGGCTTCGGCCTCCTCTAGTCTCACTCACCAGGCCGCACCTTGTCATGCATGGGGTGTGCTTTGGTAAAAATGAACTTGTCCCCAAC 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Task1_train_23783 | The variant affects gene NTN1 (netrin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mirror movements 4 | GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGG 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GGTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGCGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGG 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Task1_train_23784 | Here is a variant affecting NTN1 (netrin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mirror movements 4 | GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTGCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGGC 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GTTGCCATGGCAGCCATTCTTTGGAGCCCTCAGACTGGAGTGCAAAGTTCAGGATGCCCAGGAACAGCTGAAATGAAAATACGGGAAAATCCGCTTCCCTCACCCTGGAAGGATGACTCGGTTGGCATTCAGTGCTCTCCTGCACTCGGCTGTCCCTGCCCTCCCCATCCCCTGGTCCATGTGTGGGTGCAGGGGGGTGCCCTCGGAGTGCAGGAGCAGAGTGGCCCCCAGAGACGTTGACAGAAGCCAGCCAGCATAGGAGGGCAGGCTCAGCTGGGGTGGTTCCATTGTCTGGAGTGGTAAGTGGGGAAGTGATGACTGCTGGACGTTCCCTGGGGAGGTGTCCTTGTGGCTGCTGAAGCCACAGAGCTTGCCTGTGTGTTGGTTTCTTCAAGCTGCTGCTCCTGTCTCAGGAGGGCTCAAGTCTACTCCATGGCCCAGCCTGGGGAATAAAGGTGTTTCGCCCAGTGAAGGCTACAGTGTGTGAGGGTGGGATCAGTGAGGGGAAGACAGTGCGGGGCAGGGGAGTGAGTGGATGGCTGTTTCTCTTGAACAGAGGTGAGTACAGCAGAGGCCCCTCCAGGTACCCCCTGGTCTGGGGGCAATGATCATGTGTCCACCCCCAGCAGGTCCCCAAGAAGGCCCCATGAGGCTCTGGTGACCTGAGATGCACCAACCAAAGGGTTCTGCAGTCACAGTTGTTTGAGAAACCAACACACGTATACAGGATTCTTAGGTTAAAGGCTCTGAAAAGTCTTGCAGTAAGGAACCTCTTGACTTTGTTTAACCTAGTATTTCACAAACTTACTAGAGCAAAGTTTCTCATTTATTTAGCGTCTCTTATTTTTGAAATCTCCCTTACTATCTTGCAGAAATGACATCTGGTAACATTTGTCCTCTGAGTCAATGACATCGGCACCACTTGTGAGAAATGCATATTCTAGGGCCTCACCCAGATCTGTTCAATCTGAAGCTCTGGGGCGGGGCCCAGCAGTGTATTTTCACAAGCCGGCCAGGGGATTCTGATGCATGCTCCATTTGGGGAAGTCCTTCTACTAGGGAAAATACTGGCAGAGAATTTGGAGTAAGAGGAATGGTCTGGGGACCTTGGGCGGCATGGAGGAAGGGAGGCCACCTGGTAGGGATGGCTTAGGCGTGGGAAGCGGCAGTCCAAGGTTCCCGGGGCTCTGGAAAAGGCACTACGGCCACCCCAAAGGGTGGGTTCTCATCTTCTGTCCCTGAGCATTGAGGACCCATTATGGTTTTCTGAGGCTGGTTGGAGGGCCAGGCTGTGTGTGGAGTGTCATGAGGGCTGGTGTAAAGTGACTTGGGCCTTTGGAGAAGCGCACCCCTGAGGAACCTCCCTCTCCCCGCCAGCACTGCTCTCACCCGAGCGCCTGCCCTGGGCAGACAGCTTGCCCAGAGTGCTGGGGGCGTGGTCAGCACCTGTAGGCTTCCTGGACAAAGTGGGCCTTGACAAGGCCAGGAGATGGCTTGTCCCGACGGCAGTGCTGGGTGGCACCCTCACAGCGTGGGAGGCAAGGCTTCTTGGCCCTGTTGTTAGCAGGTGGGGGTCTACGATCAGCTTGCCACCACCCACGCGCTCCTGTATGGGCCACTCTGTGCAGTCACTTCCTGGGGCTGGGTCTCCTTTCCCTTCTCCCCAGGCTCAGGCAGGGCGGACCTAGCCACAGCAGCTGGGAGCCCACCCGTCTGCCTGTGCTTCCTTGCAGCCGTCCAGATCCACATCCTGAAGGCGGACAAGGCGGGGGACTGGTGGAAGTTCACGGTGAACATCATCTCCGTGTATAAGCAGGGCACGAGCCGCATCCGCCGCGGTGACCAGAGCCTGTGGATCCGCTCGCGGGACATCGCCTGCAAGTGTCCCAAAATCAAGCCCCTCAAGAAGTACCTGCTGCTGGGCAACGCGGAGGACTCTCCGGACCAGAGCGGCATCGTGGCCGATAAAAGCAGCCTGGTGATCCAGTGGCGGGACACGTGGGCGCGGCGGCTGCGCAAGTTCCAGCAGCGTGAGAAGAAGGGCAAGTCCAAGAAGGCCTAGCGCCGAGGCAGCGGGCGGGCGGGCGGGCGGGCGCCAGGGCGGGGCCGAGCGAGAGCGGGCGCCTTGGCCCGGCCGCCGCGGACTTGGCCCGCGAGGGCTTTCCCAGGTGGGGGGAGGGAGGGGGCGGGGCCGCACGGCGCGGGGGGCGGGACCCTCGGCGGCCCCTCCCCCTACCCCCACCCTGCGCGCTCTGGGCGGGAGCCGCGTGCACGCGGGGCGGGGTGCGCCGCCGGCCGGGCCCTGGAGAAATGACGAGACGTAGCTACCTCACGGGGCTCCTTCCAGAGCAGAGACGCGCTTCCCTGGGCCTGGGCGCGGCCGCCGTGGAGGGGCTGGGGGCAGCCTGCCCTGGGGCCCGGGGGCGGGCGCAGAATCGCACAACTGGGGCCCCAGGCGCGGGGCGTGGATGGCGCGGAGACGTGGACGGGAGGAGAACTGTGAATTCTCAAGCCCGTAGTGTGGGCGGGGCGCGGAGCACCCACCAAACCACCACCCGACACGCAGCCGACGGGATCCCCCCCTTTCTCCCCGGCCCCTTCTAGCAGTTCCCCGCGGGCCACCTGGCTGTCACAGCCTGGACTCCTCCATCTGAAGGGGCCTGGCAGCATTTGGGGAGTGGACAGCTCCTGTCCAGCCAGCATGCCCCAGGCGGCCTCTGTCTCCACTGCTACCTGCTGAGTGGGTCCTACTGGGTGGGGGCTTGGGGTCGGTGAGTGGTTCACCTGTGGAGAGAGGAGAGGAAGCCCCTGCTGCTGCCTGTCTCTGCCCCTGCCCCTGCCCCTGCCCAGCGTGGGGCTGGCCCATCCGGAAGGCAGTGGGCCCAGGGACACCCCTGAGAAGCCCAAGCCGGGTGGTCACCGCCTCATGCTGGAGCTGCCTGTTGGAGGAGGCATCGCAAACGCAAAACCTCCCAGAGAGTTTCCTTTTGGAAACTTGGAACCAGCCCTTTTTATGACGTTTTCCAGGGGGAGGGGGAGGGGCACTGGCTGGGTTTACGGCAGTGACACTATTTATGTAAATGACATCAGCTCCCGCAAGGCCCCTCAGCAATGTCAACAGCTGGAAAGGGCCTGAACGGGCTTGGAGTCTGCAGGCTGCGAAGGCACTTGGGCCTGGCTTGGGGCCGGGGGCTTGTTTGAGCTGGGATGGGGTTTGCTGGCTCAGTGAAGTACCAGAGTGCCTGAGCCATGGGTGGGCAGGGGCACAGGAATGACCAGGTTCCTGGGGGCCAAGGAGGCCATGCTGGCTTCTCCAAGGGAAGGCACAGAGGCTGCCGGCCTGCCCCCTACAGCTGTCTTGGGTCTGGCCTGGGCCACACCTTGACCGTGCCTTTCCAGACGGTCTTTGTGGAGTCTGCCCGTGCCCTCCACTGTGCCCCAGCCCTCCTTCCAAAATCTCCTAGAGACACGGTCCTCAAGCAGGCAGCCCCTTTTGTTCTGACCTCCTCACACAGGGTCCATTCCTGTGCCCTGGGGCCTCCTGGCTCCCTGCCTTCCTGGGCTCTCTGCACTGCCCGGGCCTCTGGCCCACATCCTCACACCCGGCGCACTGAATTAAGAGGCCTGGCTCCCCTCACAGTCAGGAAATTGGTTTCACTTTCCCGGCCAGAGTTTGGCTGCTCAAAAGGGTCATACCAAGTATGAAGCTCGGCCCCCGGTGGTCTGGCTTCCCTCCGCCTTCCCCACATTTACCCGCATCACGGCTGCCATTTATTGAGCACCTGCTGTGTGCCAGGCACTTTACCCACATGCTCCCAGTGTGTACTCATGACAACCCTGTGGGACAGGGACTCATTATCACCAGCAAGGAGACTGGAGTACACGTGCCCAAGGTCATGCTGCAAATTGGTGGCAGGACTGGGGCTCAAACTCCAGAGCCCGACTTTCTGACCAGGGGCCACGCTGGCCCTCACTGCACTCCAGCTCTGCAGCCTACCCGCCCAATCCCTGTGCAGGCTGGGAGGGTGCTCTTGGGGGAGTGGCCACCGAGCCCCTGGCCCTGGTTACTGCCTCTTGAGGACACTGGCATCTGGGC 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Task1_train_23785 | Given this variant in gene CFAP52 (cilia and flagella associated protein 52) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGATGTGTCAGACATGGTGCAAAACCCCTTCCTTAAATGATCTCATTCGATCTTCATAAACGCCTAATGAGATAGGTACCATTTTCATCCCTGCTTTACAGATGAGAAAACTGAGGCTCTTAACATTGGAAATCTCCTGGCTTGCAAGTAATAGAGCTGAGATTTCAACCCAGGCCGACTGGCTGCAGAACCTGTGCACTTGAATGACGTCATCTATAGTTTTAAAAAGTTTATTTAGAAATCACACATATGTAGCTTCGAGGCGCTGTTGAACTCTTTACCACTTGCATCCCCAAGTCCCCAGATAAATGCTAAAAAATTCACTCCATGTTTTGTCTCCTCATAGGCTGAGCCTTCATCCTGTTGTCCTGCTGAGGCACTTAGGAAGTTAGGGGTGAGGGGTGGAAGCTGGGGAGCATGTAATTCTGGTCCTTGCCTTCACATTCTTGAGCCTTGGTTTCTCTTCTCAATCACAAAATGTCTTTTGAGCCACAACAGGCTAAATTCAGTGTAAAGTAACTTGAAAGGGCAGGATATTTGTTTTATCATATTCAAAATTCATTAAGACACAAACCTATACAGTCACTAGCTATACTGAATGTTTTAAAATCAAATGTTGTGGCTGAGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCTGAGGCAGGAGGATCACTTCAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAACCAGGCATGATGGCGCATGCCTATAATCCCAGCTACTCTGGTGGGTGAGTCACAAGAATCGCTTGAACTTGGGAGGCAGAGAGTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGTCTGAGTGACAGAGAGAGACTCTGCCTCAAAAAAACAATAGTAATAACAAATAAATAAAATAAAATATTGCTCACGCACATTTTAAAATTAGAACTTCACAGTGGATACTATAAAACAACCATCATACATTGTCAAGCCTTTTTTTTCTTTGGAGAGAATGGTGGGGGGCACCCCAACCTTTGAAGAGCACTTTAAATTTTAAATATGTTTCCCACTCTTATGTAGTACATGTTGTAGTTCAGATAATACAGTCGCCAAACAATAAGAAGTCTATTGTGCTTTCTTGGGATATTAAATATGGTCCCTTTGCATTTGTAAGAATTAAGTTCTGGTGAAAACAGTGGCAGCTGAGAGACTAGCATTGCTGAGGTTATGCTTATACCTTCTCTTGGCTGCATTTGAGTGGATGTAAAAGTGTTAATTTTTAAAATATTCAAAATGCACCAGTGGTTTTAGGGAGGAAGGATGGTGAAGCCTGTTTGCATCCTGTAGGCCCAGGAGGGTTACTTCCTGGCAAGTGAGCTTGTTGTTGGCACTGAATCCCCTTGGTCAGCCTGGGGGTGCATCGCGAGCAGAACCTTCATGAACATCCTCCAGGCAATGTGTGCAGCACTGGCATGACTTTGGCCATCTTTAATTCATCTTTCATTCAGCTTTTTTCTTTTTTTCATTAATATTTAAAATTTTTTTTATTGCCATATGTTTTTGGGGAACAGGTGGTATTTGGTTACATGAGTACATTCTTTAGTGGTGATTTGTGAGATTTTTGTGCTTTTTCTTAACACAGTTTTTCCCCCTAGGGAGTGTCAGCTATCAGGTGCCTGAAGATGGGGGGTTTGTTGGTGGGCTCTGGAGCCGGACTGCTGGTCTTCTGTAAAAGCCCTGGCTACAAACCCATCAAGTAAGTTCCGGGTCTCACACAGTGGGGCTGGGTAGAGACCCACTAAACGGAGATTTGCTTAAAGCCAGCAACTCGATGATATCGGCAAAGTGATATTTGGTTAAAAAATTTCATCTTGCTGTTAGAATGAGTAGTTGGAATCACAATAGATGGTGGCTTCTTTGTCAACGAAAAGACAAAAGCTTATGTTGAATCAAACCAAAGTAGTCCACTATTACCCAGAGGGACACTGCCCATTTAATAAATACATAAGTTTGTATTTAGCTAACACATTGAGCCATGATGAAAGGAACGGGATGTTATAAACTTATCCAAGAAATAACCCCCAATGTTAAATGTTCAAAATTGGTTAACTCAATGAAATTTATTATGCAATGGGTACCTATTATGTGCAAAGCATTGTGTTAATCATGCATTTGAATACAATTTATAATAGAAATAGCCAGCATTCACCAGCCATTTCTATATGCCAGATACTCTGCTATGTATGTTTCTTGGCTCATTTAATTAAAATAAAATGAAACAAAACCTTATTTATTGCCATAACAATGTGCTTATTCAGCACCTCCTCCAACCAAACCAATGTATTAGATACTATTAATAAAATAAAGAAAAATAAGCTATGGTCTTTGTCCTCCCAGAACTTACAGACTCGTTTGGGGCTAAGGTATGTACACACGAAAGAAGTCACTACCAGACAAGATAGGATATTAGCACATGGTCCAGATAAAGTAAAATATATTATGAATGTTGTAGAGATCAGAGAAGAGGATGACCTTCTCGGGATGGAAAGATCAGGGAGGACAGTTCACAGAGGGATGGGCTTAAACAAAAACCAGATACCCCACACATGTGCTTTATGGCCTCTGCTACCCCCAGGAAGCCAGGGGTAGTTGCACACATGTTGTAGAAATGAGCACCAGCTGTCTTCATTCCAAGAAATCTGTGTTGAACATTCACGGGGTACCAGGCATCATTCTAGGTGCTTAGGATATCTCAGTGAATAAAACATAAAAGATGAAAAAAAAAATCCCTGTCCTCATGGAGCTTACATTCTAGCAGGAAGGAAAAGGCAATAAATAAGAAACAAAATAAACAAGGAAAGTACATAGTATTAGAGGGTGATAAGTACAATGGAGAAAAATGAAGTAGGATGCAGAGTAAGGGGATTATGGTTTGAATAGAAGCAGGGAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCTCTTTGGGAGGTCGAGGCAAGTGGATCGCTTGAGCCCAGGAGTTCCAGCCCAGCCTGGGCAACACAGTGAAGCCTCATCTCTACAAAAAAATACAAAAATTAGCCAGATGTGGTGGCACATACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCGGGAGGATTGATTGAGGTTGATCAGTCAACCTCAAGGTTGAGGCTGGAGTGAGCCATGATCATGGCACTGAACTCAGCCTGGGTGACAGAACGAGACCTCGTCTCAATTTTTTTTTTAAATAAAAAAGCAGTGTATACATTGCCATTTTAAATTCAGTGGTCAAGATTGGGCTTATTGAGAATGTTTTAGACCAGTTTCATGCTTGTATGAAGGGAAATGAGGGAGGGAGGAGTCTTTAGAACAATATTGGAAGCCTTCCAGGTTATTATACATGCTCAAGTTTGAAAGCCACAGCCCCAGAGAATGCTGGGAGCAGCATTCATCAGGAGCCTGGTGCCTGGACAACCTCATGGAATAGACACTTATAAAACCTGGAATCTGATTTCTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAAGCTCCTCTCTTAATTTACAACCGAACCTGAATCCTAATACAGGTGAGGTGGGGGAGAGGAATGATGAGAAACTTAACCTTAAAATAGCAACAATCAGGAGAGGAAAGAAATAACATCCAAGTATTGTCGATAATACAAGATGCAAGAAATAAAATCAAGTAAAAAACAAACTATGTTGGG 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ATCTTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTGGAGTTTGAGGCCAGCCTGGGCAGCATAGAAATACCCTATTTCTGTGAAAAGTTTTTAAAAATTAGCCGGCGTGGTGGCATGCATCTATAGTCCTGGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTCATCCCGGGAGTTCGTGGTTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGGCAGAGACCCTGTCTCCAAAATACACACACACACACACACACGAACATGCAAATACAAAAATGGTATCTGTCAATAAATGCTGATGTGTCAGACATGGTGCAAAACCCCTTCCTTAAATGATCTCATTCGATCTTCATAAACGCCTAATGAGATAGGTACCATTTTCATCCCTGCTTTACAGATGAGAAAACTGAGGCTCTTAACATTGGAAATCTCCTGGCTTGCAAGTAATAGAGCTGAGATTTCAACCCAGGCCGACTGGCTGCAGAACCTGTGCACTTGAATGACGTCATCTATAGTTTTAAAAAGTTTATTTAGAAATCACACATATGTAGCTTCGAGGCGCTGTTGAACTCTTTACCACTTGCATCCCCAAGTCCCCAGATAAATGCTAAAAAATTCACTCCATGTTTTGTCTCCTCATAGGCTGAGCCTTCATCCTGTTGTCCTGCTGAGGCACTTAGGAAGTTAGGGGTGAGGGGTGGAAGCTGGGGAGCATGTAATTCTGGTCCTTGCCTTCACATTCTTGAGCCTTGGTTTCTCTTCTCAATCACAAAATGTCTTTTGAGCCACAACAGGCTAAATTCAGTGTAAAGTAACTTGAAAGGGCAGGATATTTGTTTTATCATATTCAAAATTCATTAAGACACAAACCTATACAGTCACTAGCTATACTGAATGTTTTAAAATCAAATGTTGTGGCTGAGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCTGAGGCAGGAGGATCACTTCAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAACCAGGCATGATGGCGCATGCCTATAATCCCAGCTACTCTGGTGGGTGAGTCACAAGAATCGCTTGAACTTGGGAGGCAGAGAGTGCAGTGAGTTGAGATCATGCCACTGCACTCCAGTCTGAGTGACAGAGAGAGACTCTGCCTCAAAAAAACAATAGTAATAACAAATAAATAAAATAAAATATTGCTCACGCACATTTTAAAATTAGAACTTCACAGTGGATACTATAAAACAACCATCATACATTGTCAAGCCTTTTTTTTCTTTGGAGAGAATGGTGGGGGGCACCCCAACCTTTGAAGAGCACTTTAAATTTTAAATATGTTTCCCACTCTTATGTAGTACATGTTGTAGTTCAGATAATACAGTCGCCAAACAATAAGAAGTCTATTGTGCTTTCTTGGGATATTAAATATGGTCCCTTTGCATTTGTAAGAATTAAGTTCTGGTGAAAACAGTGGCAGCTGAGAGACTAGCATTGCTGAGGTTATGCTTATACCTTCTCTTGGCTGCATTTGAGTGGATGTAAAAGTGTTAATTTTTAAAATATTCAAAATGCACCAGTGGTTTTAGGGAGGAAGGATGGTGAAGCCTGTTTGCATCCTGTAGGCCCAGGAGGGTTACTTCCTGGCAAGTGAGCTTGTTGTTGGCACTGAATCCCCTTGGTCAGCCTGGGGGTGCATCGCGAGCAGAACCTTCATGAACATCCTCCAGGCAATGTGTGCAGCACTGGCATGACTTTGGCCATCTTTAATTCATCTTTCATTCAGCTTTTTTCTTTTTTTCATTAATATTTAAAATTTTTTTTATTGCCATATGTTTTTGGGGAACAGGTGGTATTTGGTTACATGAGTACATTCTTTAGTGGTGATTTGTGAGATTTTTGTGCTTTTTCTTAACACAGTTTTTCCCCCTAGGGAGTGTCAGCTATCAGGTGCCTGAAGATGGGGGGTTTGTTGGTGGGCTCTGGAGCCAGACTGCTGGTCTTCTGTAAAAGCCCTGGCTACAAACCCATCAAGTAAGTTCCGGGTCTCACACAGTGGGGCTGGGTAGAGACCCACTAAACGGAGATTTGCTTAAAGCCAGCAACTCGATGATATCGGCAAAGTGATATTTGGTTAAAAAATTTCATCTTGCTGTTAGAATGAGTAGTTGGAATCACAATAGATGGTGGCTTCTTTGTCAACGAAAAGACAAAAGCTTATGTTGAATCAAACCAAAGTAGTCCACTATTACCCAGAGGGACACTGCCCATTTAATAAATACATAAGTTTGTATTTAGCTAACACATTGAGCCATGATGAAAGGAACGGGATGTTATAAACTTATCCAAGAAATAACCCCCAATGTTAAATGTTCAAAATTGGTTAACTCAATGAAATTTATTATGCAATGGGTACCTATTATGTGCAAAGCATTGTGTTAATCATGCATTTGAATACAATTTATAATAGAAATAGCCAGCATTCACCAGCCATTTCTATATGCCAGATACTCTGCTATGTATGTTTCTTGGCTCATTTAATTAAAATAAAATGAAACAAAACCTTATTTATTGCCATAACAATGTGCTTATTCAGCACCTCCTCCAACCAAACCAATGTATTAGATACTATTAATAAAATAAAGAAAAATAAGCTATGGTCTTTGTCCTCCCAGAACTTACAGACTCGTTTGGGGCTAAGGTATGTACACACGAAAGAAGTCACTACCAGACAAGATAGGATATTAGCACATGGTCCAGATAAAGTAAAATATATTATGAATGTTGTAGAGATCAGAGAAGAGGATGACCTTCTCGGGATGGAAAGATCAGGGAGGACAGTTCACAGAGGGATGGGCTTAAACAAAAACCAGATACCCCACACATGTGCTTTATGGCCTCTGCTACCCCCAGGAAGCCAGGGGTAGTTGCACACATGTTGTAGAAATGAGCACCAGCTGTCTTCATTCCAAGAAATCTGTGTTGAACATTCACGGGGTACCAGGCATCATTCTAGGTGCTTAGGATATCTCAGTGAATAAAACATAAAAGATGAAAAAAAAAATCCCTGTCCTCATGGAGCTTACATTCTAGCAGGAAGGAAAAGGCAATAAATAAGAAACAAAATAAACAAGGAAAGTACATAGTATTAGAGGGTGATAAGTACAATGGAGAAAAATGAAGTAGGATGCAGAGTAAGGGGATTATGGTTTGAATAGAAGCAGGGAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCTCTTTGGGAGGTCGAGGCAAGTGGATCGCTTGAGCCCAGGAGTTCCAGCCCAGCCTGGGCAACACAGTGAAGCCTCATCTCTACAAAAAAATACAAAAATTAGCCAGATGTGGTGGCACATACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCGGGAGGATTGATTGAGGTTGATCAGTCAACCTCAAGGTTGAGGCTGGAGTGAGCCATGATCATGGCACTGAACTCAGCCTGGGTGACAGAACGAGACCTCGTCTCAATTTTTTTTTTAAATAAAAAAGCAGTGTATACATTGCCATTTTAAATTCAGTGGTCAAGATTGGGCTTATTGAGAATGTTTTAGACCAGTTTCATGCTTGTATGAAGGGAAATGAGGGAGGGAGGAGTCTTTAGAACAATATTGGAAGCCTTCCAGGTTATTATACATGCTCAAGTTTGAAAGCCACAGCCCCAGAGAATGCTGGGAGCAGCATTCATCAGGAGCCTGGTGCCTGGACAACCTCATGGAATAGACACTTATAAAACCTGGAATCTGATTTCTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAAGCTCCTCTCTTAATTTACAACCGAACCTGAATCCTAATACAGGTGAGGTGGGGGAGAGGAATGATGAGAAACTTAACCTTAAAATAGCAACAATCAGGAGAGGAAAGAAATAACATCCAAGTATTGTCGATAATACAAGATGCAAGAAATAAAATCAAGTAAAAAACAAACTATGTTGGG 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Task1_train_23786 | This gene mutation involves MYH8, MYHAS (myosin heavy chain 8| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hecht syndrome | AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCAGTCTTAACTGATTAATTGGATTGTTAATATTTGCGAGGCATTCAGCATCTGTTGAGCTCTAAAATTTATTTTATTGAAATAAAGTGAAAAATAGTAATAAAAGGTACCCCTACTGCAAACTATAGCCATAGACTGGCTAGGTTTGACTACTTGTAGCAATGTGTATGTTTCTTCAAGCTTGTTAAAATGGAAATTCTATCTCTATAGGTCCAGTTTTTAAGACTTGTAACTCTATGAAAGCAGATACCTTGACACAAACCATAACGTTCACACATGGGAAAGACTCAGGAACACTTCCAGTGCAGGCCTAAATGATTACAGATAAGAAAAATGAATGCACAGTGTGTGTGTAAGTAGAGGGAATGCAATAGTGTTGGGTAGATAAACTGGGTGAGATTAGTTACAGAAAGGGGAAATTAAAGTTTTAAATTGGTAAATAGATAAATTAGGATGAGGGGAGAGATGAGATAAGAAGATAAGCAAATGAGAGATTAGTAGATAAGCAAATTGTTTAGCCTGGCTGGAAAAGGCTATGTGCTTGGAAATGATAGATGAGGTGGGGAATAGAGAGGGCCTTGACAGGCAAGCAAGCAACTAGCTTGATGAAAATACTGCTTACTGCAAACTATTCCTGTGGCTGTATGTGAGATGGCTGGAGGTAGGAGAGAAGTTTTGAAAGGAATCCAAGTGTGAGAGCTGAAGCAAAGGCTGCTGTGTTGTAGGAGTGAGTTCTGAATTGGGTGAGAGGAACTATTAGCCACCAAATGAAAGAATTAATGAATGAACAAGACTGATTGATAGTCCTTAAGGGACCTTATAATTCTGATATTCTGAATGATTGTTACCTCCTTTGCAACATCTTCTGATATTCTACCCTCATTAGGAATCCCCTACAGACAGCTTGTGTTCTTGTTATAATTTGGGCTAATTTTTCATCTCTCATTTCTTCCAGAAGACCCAGAAGTCCAGCTTTGAAGAAAACCTGGAGAAAGAGAGAGTCACAAATCATCTCCATACTGCAGGAGATGCAGAAATGGCAGAAGGTACTTGGATCAGGTGTAAATAAATAACGATATACCTTGGTATGTCCAAATTTATATTGAGTATGATCAATATCAATAGATGCAAGAAGTTTCTCAGAAGCCTTCTTGCTGTCAATGAACTGTCCCTCTGGAATAGCACTTGCATTTAAAACCTTGTATCTGCTCAGTTAAAGAAAGAAAGAATGGTTAGGAAAATGTGACCACATGCCAACAAAATGACACCAAAAAGAAATATCAACAAACATCTGAGAGTAGAAATAAAAGTGGAAAATCCAACTGCCGTTTAAGGACAGATAGTAAAACAATATGATTTTCTGTTGCATGCCTGCTTCCTGTTATCCTTCTAACCTGTTGTATTATCCTACCACCACAAGACTATATTATTCGACTTCTTAATTTTTTAATACATACTAATTCACAGTGTTAATGAAATACATCAAAGAAGACTGACCTTTGTTTGAAATCACCATATAAGATTCTGCTTGGGAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCATTACACCTCAGCTGGTGCAACACAAGTTCATGTTCCATTGCCCCTAAAAATATAGAACAGTACTTATTAGTGGGCATTTAACTTTCAAACCTGTGCCCGTTTGATTATTTCACTCTCTGTGTCTTACCAGGAGTTTTGGTTTCATTGGGAATGATACACCGTACGAAGTGAGGGTGTGTGCTCCTCAGATTCGTCATCAATTTATTTAAATTTTCCTAGAAAACCAGACAGAAAGGACTTGATGAAAAAGTTCTATTTCAGGTTGTTTTTTGTAATTATATGGAATGAACCTAGACAGTCCTTTAACTACTAGGCATGCATCTGTGAGGCTTCAATTGCTCTGTATTTTGAGGGTCTCAAGAGTTCTAGCCTGCCAAATAACAAAAAGGCCAAAGTGGTTGGAAGGAATGCACATCTCCAAGGTATTCCTTTGTAACACCAGGGATCTGTCTCATAAACAAATTGCAATTCAGTAACCTTGTGATGTACAAGGAAGGGTTCTCAACCGAGAATCACAAGACAAAACATGATGGCTTTGCTATGCCACTAATGAACTGCCTGACTGTATAAAATCCATTTTTTCTCTGGGCATTATCTGAGAATAGTTGAGATTGTTTGTGAGGTCTCTTTCATCTCTCTCAGTGCTAATAATTTTCACAGTAGCAGTTTACAGTGGTAACCTAAGTTAGCAATTGTCCTAACTTTTGCCTTTCCTTCCTTGAGTGTAATATTTCCTGGGACCTCTTACCCTCTTGTTTTCTTTTGATTTTTGAAGAGTCTAAAATTGTGAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCAAAGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACGTAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTCTGGTGACGGGTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACCTGATACCAGGAGGCAGAGTTTGCAGTGAGCTGAGATTGTGTCACTGCACTACAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAAAAAATAAATAAATAAAATAAAATAAAATTATGAAACTATATAACCTTGGGTTGGTGGGTGTTGGGTACCTGAGACTAGATATACTCTTAAGAAGGCAGATTTTTTTTTTTTTTTTTGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTCGGTCCACTGCAACCTCTACCTCCTGGGTGCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCACTATGCCCGGCTAATTTTTATATTCTTAGTAAAGATGGGGTTTCACCATATTGGCCAGGCTGGTGTTGAATTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCAAGAAGGCAGATTTTTTTTCCCACAGCTCAGTTAACCATTAGGAAATGAAGAAAATAAGTAATGTGAGTTCCTAATTTTGAAAACATGTATGAAAACAAGTTGATAAAACAAAAGTCTATTTGGTAAGATAATGCAAATTGGTTGTGAGAAAGAAAAAGAACAAGAGTAGTTTTCTTGTTTAGATCATAGGTCGTATGTCGTGTCTGTATTTTAGTTTTATAAGGAATGAGACTTAGCCATACACATTTTGATTAAAAAGCCATTATTAGTCCATATATAAGAACAAGTTTTTAAGCTACATAGGAAAATCACATTACTTTGTAGTGAAATTATTATTCTTTAATCTCAAGAGATATTTCGTATCTTAATGATCCATTTAAGTCACTGGGCTTGGCTTTAGATGATTTTCAGCTGTAATGAAAAATTAAATTCACCTCAGAGGACAAAGATATGTTTTGGTGAAAGATGTTATGAAGAGTGTATCTGAGGCTCATTCTCAAAGAGGAACTCAGGAACATTTTCAAAGGGCAGCATTCAAAGCGGAATAAGAATATGACCTTCCACAGGGACAGCTTTGAAGTTTAGCTATACTTCTTTAGAAATCAGCCTCATTATATAATGAGAAAGTTTCTAAGGGCATTTTGGCAATCCTGAATACATTAGATAATCGTAATAAGGAATAATGGGTAAAGCATCCGTTCCTACAGGAGTAGTATTTCTTTGGCTATACTC | AGAGTGACTTTAGGGGTGAATATTTTGAATGTATGATCAGCACATACCATTTGACATATGACAGTATTAGTGATTTGAGGGTGGGCATGGTGATTGCATGTTGATTGTGCTGCCTGTCTGTGGGCATATGGATGAGAACTGTGAAATGACATAGGTTGCCTTCTGAATGGCCCACCTAAACTGAGCGAATGATTTGTCATCTCTTCCTTGAAGTTGCTCCTCTTATTTTGAACAACACTGAATTATCCACTCTATAAACTTTTTTTGCTAGCTTCTTCAGATAATACACTGGCTTATCTCAAATTCTTTCAAGTGCCTCAGTCTTAACTGATTAATTGGATTGTTAATATTTGCGAGGCATTCAGCATCTGTTGAGCTCTAAAATTTATTTTATTGAAATAAAGTGAAAAATAGTAATAAAAGGTACCCCTACTGCAAACTATAGCCATAGACTGGCTAGGTTTGACTACTTGTAGCAATGTGTATGTTTCTTCAAGCTTGTTAAAATGGAAATTCTATCTCTATAGGTCCAGTTTTTAAGACTTGTAACTCTATGAAAGCAGATACCTTGACACAAACCATAACGTTCACACATGGGAAAGACTCAGGAACACTTCCAGTGCAGGCCTAAATGATTACAGATAAGAAAAATGAATGCACAGTGTGTGTGTAAGTAGAGGGAATGCAATAGTGTTGGGTAGATAAACTGGGTGAGATTAGTTACAGAAAGGGGAAATTAAAGTTTTAAATTGGTAAATAGATAAATTAGGATGAGGGGAGAGATGAGATAAGAAGATAAGCAAATGAGAGATTAGTAGATAAGCAAATTGTTTAGCCTGGCTGGAAAAGGCTATGTGCTTGGAAATGATAGATGAGGTGGGGAATAGAGAGGGCCTTGACAGGCAAGCAAGCAACTAGCTTGATGAAAATACTGCTTACTGCAAACTATTCCTGTGGCTGTATGTGAGATGGCTGGAGGTAGGAGAGAAGTTTTGAAAGGAATCCAAGTGTGAGAGCTGAAGCAAAGGCTGCTGTGTTGTAGGAGTGAGTTCTGAATTGGGTGAGAGGAACTATTAGCCACCAAATGAAAGAATTAATGAATGAACAAGACTGATTGATAGTCCTTAAGGGACCTTATAATTCTGATATTCTGAATGATTGTTACCTCCTTTGCAACATCTTCTGATATTCTACCCTCATTAGGAATCCCCTACAGACAGCTTGTGTTCTTGTTATAATTTGGGCTAATTTTTCATCTCTCATTTCTTCCAGAAGACCCAGAAGTCCAGCTTTGAAGAAAACCTGGAGAAAGAGAGAGTCACAAATCATCTCCATACTGCAGGAGATGCAGAAATGGCAGAAGGTACTTGGATCAGGTGTAAATAAATAACGATATACCTTGGTATGTCCAAATTTATATTGAGTATGATCAATATCAATAGATGCAAGAAGTTTCTCAGAAGCCTTCTTGCTGTCAATGAACTGTCCCTCTGGAATAGCACTTGCATTTAAAACCTTGTATCTGCTCAGTTAAAGAAAGAAAGAATGGTTAGGAAAATGTGACCACATGCCAACAAAATGACACCAAAAAGAAATATCAACAAACATCTGAGAGTAGAAATAAAAGTGGAAAATCCAACTGCCGTTTAAGGACAGATAGTAAAACAATATGATTTTCTGTTGCATGCCTGCTTCCTGTTATCCTTCTAACCTGTTGTATTATCCTACCACCACAAGACTATATTATTCGACTTCTTAATTTTTTAATACATACTAATTCACAGTGTTAATGAAATACATCAAAGAAGACTGACCTTTGTTTGAAATCACCATATAAGATTCTGCTTGGGAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCATTACACCTCAGCTGGTGCAACACAAGTTCATGTTCCATTGCCCCTAAAAATATAGAACAGTACTTATTAGTGGGCATTTAACTTTCAAACCTGTGCCCGTTTGATTATTTCACTCTCTGTGTCTTACCAGGAGTTTTGGTTTCATTGGGAATGATACACTGTACGAAGTGAGGGTGTGTGCTCCTCAGATTCGTCATCAATTTATTTAAATTTTCCTAGAAAACCAGACAGAAAGGACTTGATGAAAAAGTTCTATTTCAGGTTGTTTTTTGTAATTATATGGAATGAACCTAGACAGTCCTTTAACTACTAGGCATGCATCTGTGAGGCTTCAATTGCTCTGTATTTTGAGGGTCTCAAGAGTTCTAGCCTGCCAAATAACAAAAAGGCCAAAGTGGTTGGAAGGAATGCACATCTCCAAGGTATTCCTTTGTAACACCAGGGATCTGTCTCATAAACAAATTGCAATTCAGTAACCTTGTGATGTACAAGGAAGGGTTCTCAACCGAGAATCACAAGACAAAACATGATGGCTTTGCTATGCCACTAATGAACTGCCTGACTGTATAAAATCCATTTTTTCTCTGGGCATTATCTGAGAATAGTTGAGATTGTTTGTGAGGTCTCTTTCATCTCTCTCAGTGCTAATAATTTTCACAGTAGCAGTTTACAGTGGTAACCTAAGTTAGCAATTGTCCTAACTTTTGCCTTTCCTTCCTTGAGTGTAATATTTCCTGGGACCTCTTACCCTCTTGTTTTCTTTTGATTTTTGAAGAGTCTAAAATTGTGAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCAAAGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACGTAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTCTGGTGACGGGTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACCTGATACCAGGAGGCAGAGTTTGCAGTGAGCTGAGATTGTGTCACTGCACTACAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAAAAAATAAATAAATAAAATAAAATAAAATTATGAAACTATATAACCTTGGGTTGGTGGGTGTTGGGTACCTGAGACTAGATATACTCTTAAGAAGGCAGATTTTTTTTTTTTTTTTTGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCTCGGTCCACTGCAACCTCTACCTCCTGGGTGCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCACTATGCCCGGCTAATTTTTATATTCTTAGTAAAGATGGGGTTTCACCATATTGGCCAGGCTGGTGTTGAATTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCAAGAAGGCAGATTTTTTTTCCCACAGCTCAGTTAACCATTAGGAAATGAAGAAAATAAGTAATGTGAGTTCCTAATTTTGAAAACATGTATGAAAACAAGTTGATAAAACAAAAGTCTATTTGGTAAGATAATGCAAATTGGTTGTGAGAAAGAAAAAGAACAAGAGTAGTTTTCTTGTTTAGATCATAGGTCGTATGTCGTGTCTGTATTTTAGTTTTATAAGGAATGAGACTTAGCCATACACATTTTGATTAAAAAGCCATTATTAGTCCATATATAAGAACAAGTTTTTAAGCTACATAGGAAAATCACATTACTTTGTAGTGAAATTATTATTCTTTAATCTCAAGAGATATTTCGTATCTTAATGATCCATTTAAGTCACTGGGCTTGGCTTTAGATGATTTTCAGCTGTAATGAAAAATTAAATTCACCTCAGAGGACAAAGATATGTTTTGGTGAAAGATGTTATGAAGAGTGTATCTGAGGCTCATTCTCAAAGAGGAACTCAGGAACATTTTCAAAGGGCAGCATTCAAAGCGGAATAAGAATATGACCTTCCACAGGGACAGCTTTGAAGTTTAGCTATACTTCTTTAGAAATCAGCCTCATTATATAATGAGAAAGTTTCTAAGGGCATTTTGGCAATCCTGAATACATTAGATAATCGTAATAAGGAATAATGGGTAAAGCATCCGTTCCTACAGGAGTAGTATTTCTTTGGCTATACTC 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Task1_train_23787 | The gene MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Myopathy, proximal, and ophthalmoplegia | ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGAGAATAAAAATGGAATTGTAAGGAACTCATACTTGCATCTTTCTAGACTCTTTAGACCTAATAGAAGAAAGGACTTGGCATCTATGGAGAAGCAACATCTAGGGATTATCATTGAAATTAATTTTAAGATTTGTTTATTGATGTCATATATATATATATATATATACACACACACATACATACATACGTATCTCACATTCCTATTTTGGCAACCAAAACACATAAAATATATGTACCACAAGTAGAATAAGAAGAAAAATATAAGCTTAGAGAGGAAGGCAAGAATATTAAAGTCATAGTTGTTAATGCTTGCTATAAGATGATGATTTTCCCTTGAGTTAGATTTTTTTTATCATATTAAGAATGAACTTATTAAGTTTTTAAAAATTGAAATAAATATTGGATTTTGTCATGTATCATTTTGGCACATTTCAAAATGGTTACTTTTTTCCTCCTGCATTGGATGTAATGATTCTATTGACAGATAACCTAATATTAGGTAATCTTTACATTGTAAGAATTAACCTTATTTAATCACTGGAAGACAATTCCTTTAATAAAGTAAGACTTACTACTTAGTAATTTATCTTTGCTGTAACTGTCTTTATGAGTAAAATTGCCTTTAGTTTTTCTCCCTCTGTCCTCTCTTGGGCAGGTTTTGGTATGAGGGTTATGTGAGCTTCTTAAAATGAACTGGACAGCTTTCTATCTTTTCCCATGCTCTTGAACAGCTACATAGCTGGGGGATTATCTGTTCCTTGAAATTTTGAAAGACCTATCTGGACTTGGGTCCATTTCCAGAAGTAATTCAGCCAACTTAGTAATTTATATCCTCCTAGAAAAATCATCAATTTTTTTCAGGGTTTCAACTTTATTGATAGATGTGTTTTATATTAAAAAATAATCCTCTATGTATATAGCTTATTCCCTTTCTCATTTCTAATGTTGTTTATATTTTCTCTCTTATTTTCCTTGATGAAACTAGTTATAATACATTTATTTTATTAATTCCCCAGAAGTTACAAATATTACTGAAGTTATCAAATAGAAAATAGTATACTCTAATTCACCAATTTCTACTTTTATTTTTAACAGTACTTCTTACTTCTACTGTTTTATTATTATTTATAATTTATTTATTGGACTGTCTGTTTGTTTATTTTTACTTTTGGTTCATAATGAAAGCATTTAAAGCAATGAATTAGCCTCCTAGCACAGCTTTGACTACATTCTGTAGGTTTGTAAAAGTAGCATCTTCCTTGTGATTTTACTTATAATTAATAATTATTTAGTAATTATGTTTTTATTTTTACTTTAAACCAAGAGTTATTTAAGAAAGTTAGTTTTTTTAATATTTAAGTACTCAAGAATTTTTGCTTATATTTTGTCATCACTTTACAACTCCGTCATACTGTGGCCGGAGAATATGGCCTGTATTATTTCTGCTTTTAATTTTTTTCAGGATTCTTGGTGGATTGAAAGTTTACTTTTAAAATGAAGCTACTGATATTACAAATGATACACAAGAATTATTGTACAAAAACAAATGTTAAATATGCATGCAGTAGTCTTTAAAGCAAACAGCTTGTTCACTACAAGAAGTAGTAATTATTTATTAGCTTAATTTGAGGACTTCAATCTTAAAAATACTTACAGCCTCCTCAGCTTGTCTCTTATAAGATTTCACTTTTGCCTGAAGTTTATCTACCAAATCTTGAAGCCTGAGAATATTCTTTCTATCTTCTTCCGTCTGAAAGATTATAAAAAGTCCAGGACCTTAATTACTAAAGCACATGACTATTGCATCATTGCATATGAGTATTTCACATAAACTTCGACCAGTGCTTAGCCGCTAAAAACTACTGGCTGTACCTGGTAAGTGAGTTCCTTCACTCGCCTCTCATGTTTGCGCAGACCTTTGACAGCCTCAGCATTACGCTTTTGCTCACTCTCAACCTCTCCTTCCAGCTCCCGTACCTGCAAATAAGTAGGCTCTTAAGAACTTTGATCCAATAAGGCACTGAAAGCAGATGGAAATAGACAGATATTGGGAGACCCACCCTGGCCTCCAGTTTCTGGATCTGCTTCTTCCCACCCTTCAGGGCCAGCTGCTCAGCCTCATCCAGACGGAGCTGCAGATCCTTCACGGTCTGCTCCATGTTCTTCTTCATCCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCAGCCATCATGGCGGCCTAAATAGCAAATAAATCAAGAAAACCAAGAAAGTTATAGATGTCAGGAAATCTTACTGCTAAATCAGTGGACAAGTGTGCCTGCCACTCACATCAGTGATGGCCTTCTTGGCCTTTTCTTCTGCATTGCGGGCTTCCTGGAGAATGTCCTCCATCTCTCCTTGCATTTGGGAAATATCTGTCTCCAGCTTCTTCTTGGTGTTGATCAGGCTGGTGTTCTGTTTAAAAAGAATTTGTACATTTAAAAAATTGTGTTACCAAAGTATTTATTGGTAACCACTTCTTGAAAAAAATTCAGATAAAAATTTGCAAGTCAAAAAATGCCTTTTAATATTAAAGAATTAAAGGATTGTGTTATGTAATATGATTAAATAAAATATAAATGTTATAGAATATTCAGCATCTTCAAGTGTATAGGTCACAAGCAGACCAAGTAGCTCTATAATTTTATAATTATCATTTACCAATAGACCATTCACAGGGATAAAAGTATAATGGACTTTCTCATAACATTCCATTTCTCCAGAATGAAATGTGAATATTGATAATGAGGGCCAATAAAGATATTAACACAATAGAATACGGGGGCAGCCTTAGAATATTATATGAAGCAAATCAACAATAGTTTTTCAAAGCAAAACAGTGAAAGATTTCTCAGTAATGCAGAATTACTATTCTGTATTATTTGAAAAGAAAATTTGATAGACATATTAGGTCTAGCTGTCTTATGAAAACTCAGGCTTATCTATTCTGGGACATATAAAATTTACTAAGGAGAGTTCTTTGTGCTGAATCCCACCTGGGTGTGCAGTAGCTGAACACGCTCACTGGCATCCAGGAGCTCCTGTTCTGCGATTTTTCTGCTCCTCTCTGTCTGTTCCAGAGTGGCCCGCAGCTCCTCGATCTCAGCCTGCAGCAGGTTGGCTCTGCGCTCCACCATGGCCAGCTGTTCCTTCAGGTCCTCCTGGCTCCGGAGAGCATCATCCAGGTGGATCTGGGTATCCTGTGAAACAAACCATCATTGAGACATCATGTTCTCAGGGTTGCAGGCACCCCAATAGTCCTGGGACCATCTCTTGGACATATTTACCTTGAGGATGCCTTGGGTGTTCCTGTAGTTCCTCAGGGCCTCAGCAGCCATGCGGTTGGCATGGTTCAGCTGGATTTCCATTTCATTGAGGTCTCCCTCCATCTTCTTCTTGAGCCTAATGGCATCATTCCTACTCCTGATCTCAGCATCCAGCGTGCTCTGCATGGACTCCACGATTCTAATGTGGTTTCTCTTCAGCTGGTCAATTTCCTCATCTTTTTCAGCAATTTTCCTATCAACCTCAGACTTGACTTGGTTCAACTCAAGCTGGATGCGCAGGATCTTTCCCTCTTCATGTTCAAGAGATGCCTTAATGACAGCAAGAGGTGACATTAGCAAGGAACCAAAAGCTTTATGAAGTTTTTCTGCACAGCAATAATTTTGTGCTATGTGTCTTTTTATTCACTCTATGCAGATGTACCTAATTATTTTCCAGATTTTTTTA | ACATGGCTTCAGGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGAGAATAAAAATGGAATTGTAAGGAACTCATACTTGCATCTTTCTAGACTCTTTAGACCTAATAGAAGAAAGGACTTGGCATCTATGGAGAAGCAACATCTAGGGATTATCATTGAAATTAATTTTAAGATTTGTTTATTGATGTCATATATATATATATATATATACACACACACATACATACATACGTATCTCACATTCCTATTTTGGCAACCAAAACACATAAAATATATGTACCACAAGTAGAATAAGAAGAAAAATATAAGCTTAGAGAGGAAGGCAAGAATATTAAAGTCATAGTTGTTAATGCTTGCTATAAGATGATGATTTTCCCTTGAGTTAGATTTTTTTTATCATATTAAGAATGAACTTATTAAGTTTTTAAAAATTGAAATAAATATTGGATTTTGTCATGTATCATTTTGGCACATTTCAAAATGGTTACTTTTTTCCTCCTGCATTGGATGTAATGATTCTATTGACAGATAACCTAATATTAGGTAATCTTTACATTGTAAGAATTAACCTTATTTAATCACTGGAAGACAATTCCTTTAATAAAGTAAGACTTACTACTTAGTAATTTATCTTTGCTGTAACTGTCTTTATGAGTAAAATTGCCTTTAGTTTTTCTCCCTCTGTCCTCTCTTGGGCAGGTTTTGGTATGAGGGTTATGTGAGCTTCTTAAAATGAACTGGACAGCTTTCTATCTTTTCCCATGCTCTTGAACAGCTACATAGCTGGGGGATTATCTGTTCCTTGAAATTTTGAAAGACCTATCTGGACTTGGGTCCATTTCCAGAAGTAATTCAGCCAACTTAGTAATTTATATCCTCCTAGAAAAATCATCAATTTTTTTCAGGGTTTCAACTTTATTGATAGATGTGTTTTATATTAAAAAATAATCCTCTATGTATATAGCTTATTCCCTTTCTCATTTCTAATGTTGTTTATATTTTCTCTCTTATTTTCCTTGATGAAACTAGTTATAATACATTTATTTTATTAATTCCCCAGAAGTTACAAATATTACTGAAGTTATCAAATAGAAAATAGTATACTCTAATTCACCAATTTCTACTTTTATTTTTAACAGTACTTCTTACTTCTACTGTTTTATTATTATTTATAATTTATTTATTGGACTGTCTGTTTGTTTATTTTTACTTTTGGTTCATAATGAAAGCATTTAAAGCAATGAATTAGCCTCCTAGCACAGCTTTGACTACATTCTGTAGGTTTGTAAAAGTAGCATCTTCCTTGTGATTTTACTTATAATTAATAATTATTTAGTAATTATGTTTTTATTTTTACTTTAAACCAAGAGTTATTTAAGAAAGTTAGTTTTTTTAATATTTAAGTACTCAAGAATTTTTGCTTATATTTTGTCATCACTTTACAACTCCGTCATACTGTGGCCGGAGAATATGGCCTGTATTATTTCTGCTTTTAATTTTTTTCAGGATTCTTGGTGGATTGAAAGTTTACTTTTAAAATGAAGCTACTGATATTACAAATGATACACAAGAATTATTGTACAAAAACAAATGTTAAATATGCATGCAGTAGTCTTTAAAGCAAACAGCTTGTTCACTACAAGAAGTAGTAATTATTTATTAGCTTAATTTGAGGACTTCAATCTTAAAAATACTTACAGCCTCCTCAGCTTGTCTCTTATAAGATTTCACTTTTGCCTGAAGTTTATCTACCAAATCTTGAGGCCTGAGAATATTCTTTCTATCTTCTTCCGTCTGAAAGATTATAAAAAGTCCAGGACCTTAATTACTAAAGCACATGACTATTGCATCATTGCATATGAGTATTTCACATAAACTTCGACCAGTGCTTAGCCGCTAAAAACTACTGGCTGTACCTGGTAAGTGAGTTCCTTCACTCGCCTCTCATGTTTGCGCAGACCTTTGACAGCCTCAGCATTACGCTTTTGCTCACTCTCAACCTCTCCTTCCAGCTCCCGTACCTGCAAATAAGTAGGCTCTTAAGAACTTTGATCCAATAAGGCACTGAAAGCAGATGGAAATAGACAGATATTGGGAGACCCACCCTGGCCTCCAGTTTCTGGATCTGCTTCTTCCCACCCTTCAGGGCCAGCTGCTCAGCCTCATCCAGACGGAGCTGCAGATCCTTCACGGTCTGCTCCATGTTCTTCTTCATCCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCAGCCATCATGGCGGCCTAAATAGCAAATAAATCAAGAAAACCAAGAAAGTTATAGATGTCAGGAAATCTTACTGCTAAATCAGTGGACAAGTGTGCCTGCCACTCACATCAGTGATGGCCTTCTTGGCCTTTTCTTCTGCATTGCGGGCTTCCTGGAGAATGTCCTCCATCTCTCCTTGCATTTGGGAAATATCTGTCTCCAGCTTCTTCTTGGTGTTGATCAGGCTGGTGTTCTGTTTAAAAAGAATTTGTACATTTAAAAAATTGTGTTACCAAAGTATTTATTGGTAACCACTTCTTGAAAAAAATTCAGATAAAAATTTGCAAGTCAAAAAATGCCTTTTAATATTAAAGAATTAAAGGATTGTGTTATGTAATATGATTAAATAAAATATAAATGTTATAGAATATTCAGCATCTTCAAGTGTATAGGTCACAAGCAGACCAAGTAGCTCTATAATTTTATAATTATCATTTACCAATAGACCATTCACAGGGATAAAAGTATAATGGACTTTCTCATAACATTCCATTTCTCCAGAATGAAATGTGAATATTGATAATGAGGGCCAATAAAGATATTAACACAATAGAATACGGGGGCAGCCTTAGAATATTATATGAAGCAAATCAACAATAGTTTTTCAAAGCAAAACAGTGAAAGATTTCTCAGTAATGCAGAATTACTATTCTGTATTATTTGAAAAGAAAATTTGATAGACATATTAGGTCTAGCTGTCTTATGAAAACTCAGGCTTATCTATTCTGGGACATATAAAATTTACTAAGGAGAGTTCTTTGTGCTGAATCCCACCTGGGTGTGCAGTAGCTGAACACGCTCACTGGCATCCAGGAGCTCCTGTTCTGCGATTTTTCTGCTCCTCTCTGTCTGTTCCAGAGTGGCCCGCAGCTCCTCGATCTCAGCCTGCAGCAGGTTGGCTCTGCGCTCCACCATGGCCAGCTGTTCCTTCAGGTCCTCCTGGCTCCGGAGAGCATCATCCAGGTGGATCTGGGTATCCTGTGAAACAAACCATCATTGAGACATCATGTTCTCAGGGTTGCAGGCACCCCAATAGTCCTGGGACCATCTCTTGGACATATTTACCTTGAGGATGCCTTGGGTGTTCCTGTAGTTCCTCAGGGCCTCAGCAGCCATGCGGTTGGCATGGTTCAGCTGGATTTCCATTTCATTGAGGTCTCCCTCCATCTTCTTCTTGAGCCTAATGGCATCATTCCTACTCCTGATCTCAGCATCCAGCGTGCTCTGCATGGACTCCACGATTCTAATGTGGTTTCTCTTCAGCTGGTCAATTTCCTCATCTTTTTCAGCAATTTTCCTATCAACCTCAGACTTGACTTGGTTCAACTCAAGCTGGATGCGCAGGATCTTTCCCTCTTCATGTTCAAGAGATGCCTTAATGACAGCAAGAGGTGACATTAGCAAGGAACCAAAAGCTTTATGAAGTTTTTCTGCACAGCAATAATTTTGTGCTATGTGTCTTTTTATTCACTCTATGCAGATGTACCTAATTATTTTCCAGATTTTTTTA 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Task1_train_23788 | This mutation occurs in MYH2, MYHAS (myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Myopathy, proximal, and ophthalmoplegia | TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAGCTTTGAAAAAGACCTGTGAATGGAAAGAGTTGCAAATCACAAGCTTTAATAAAGTTCAAAGGGACAGGAATAGCATCAGGTAGGATTTACAGAAAATTACCTTGGTGTGCCCAAATTTATACTGGGTGTGGTCAATGTCGATGGATGCAAGGAGCTTCTCAGAGGCCTTCTTGCTATCAATGAATTGCCCTTCAGGGATTGCACTTGCATTTAATACCTTGTATCTGTTGAAGTACATATAGCTTTTAACAACTAGTTTACTGATGACACAAATGCTAGCTAAACATTAAATGATTCATTTTTTAAAGCAGAGCTTTAAAAAAATATTATTCTTTGTTCACAAGGAGAACATTGTTTATTTGAATGGTCAACCCTTTGGCAACCAATTTTTATTCCATTTGCCTTTCCCTCGCAGTTGCAACTTTCCTTTCTGTCTCATCAGACCCTGTTCTTAGAAAAGGGTTCTGCCTTAAGAAAGGGACACATTATGGTGTGCCTAACCAATAAAATGTAATCTGTTATCTTTACTAGATGCATTTGCTTTTTAAGGCCCTGAATCCAAGAAAGCTACTTTTCATTGAAGAATTTGGTAGACAGTACACTTTAGGTATTCAGAACTATCCTAATCACCTAAAATCAAACTTAGACATGCTTTGGATCTTGAGCCCTGGAATCCTCTGTCAGTGCCACCTGACCCAGACCTGGGAGAGATCAGCTCCTAGCAGCTGCTACCCAGTCCTTCCCCACCTCTGCCTTTTCTTTGATTCTCAAGATGGGCTTATCTAGAGAGGAGAAAAGGGACCTGAGGAACAGTCATTGTGACATGTTCCCTCTGCCTCCAGGAAACCCTGGGAGTCTAATATGTGGGAGAAAAAGACGAACATAGATGATACCAAAGGAAATGACAGAAAATGAATAGCTATGTTTGTATGGAAGAGTTTCTAACTCAACCACTTAATAACTGTGACTTTGGGCAAGTACCTTAATTTCCCTGAGCCTCAGCTTATTCATCTATAAAGTGAAGTCTTAATAGTACCTACTTGCACTGTGTTTTTGCGAGGATTAAACAAGATAATCTGAACATATTAAGCACTCAAAAAGGTCGTTCTTAATTATTATTGGAGTTAACGTGTGCATCTATGAGCTAAGCTAAGTGCCTGATAAATCCAATGAAAATTCCACAAGGTGCTTAAAATTTTGTATATTTATATTTTAAAAGTATTTGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAAAACTTTTGGAGGCCAAGGCTGGCGGATGACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAGCATGGTGAAACCCCATCTGTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTCAAAACAAAAGTGTTCGAGACTTGAGACTTGTAATTTTTTTACTTCTTTTTGTGACAAAACTAACAAGTAGAGGCATATGTTTCACTAAATTGTTTTGCTTGCATTAAACTTGTTCATATTAAACTTCAGAATACACCATAATCAGGAGAAACTGACCTCTGTTTGAAGTCTGCATAAAGGATTCTGCTTGGAAATCCTTTCCTACAGATGCGGATGCCTTCCAGCACACCGTTACACCTCAGCTGGTGGAGGACAAGCTCATGCTCCATGGCACCTAAAAATGCATATTTATTTCACTGCAGAGCTGTTGAAAAGGAGGTGTGGCAGTCATCCTTTGCACTTTCATTATGGAATTTCTTACCAGGAGTTTTTGTCTCATTGGGGATGATACACCTCACAAAGTGAGGATGGGTACTCCTGAGGTTGGTCATCAGCTTGTTCAAATTCTCCTGTAAAACCAGGAAAAATCCTGTCATTTTAGGCTCTAGACATGGATATGAGCAGTCATTGGTGTCTATAAAATCAATATCTATAGCTGAGTTGAATGACCAGTATGGACTGCATTCATATAAGGCAACACTTTGAATGCTTCTTCTGAGATGCTTTTTCCTCCTCAATAGATCTTTCTGCACTTGAGTTTCCGAGAGTTACACACAGAACAAGGAAAGCATCCTGGCATGTGCTTCTTTTCAGTTTATGCCAACACCATCCTTTCTACCCTGGTCCCTGGCCATACACATACATTTACAAGGCCATTGCCTTCCCATGCGAGATGATCGCTCTTTCTTCTACCAAATTCCATAGTTCTCCAATAAGGAAATGGAAGCCTGCACCACATTTGGACGTTTTCCTTATAATACAGCTCCTCTTTTCCAGCTCTATCAATTTTTAGGGGATAGAGATTATCTACAGGGGAGCAATCCTACCAATTATAATTGAAAATTGACTCGATTAAGAGCAAGGATACCATATTAGCTGCACTGCAGATTTGCTGCTAGAATTCATGAGTTCATTAGCCATACTGATGTCTTTTAGTCTCTCTGAGTTCATGTCATTGCTCTTTTTCATGGCTCAGCTAGATTATGAATGGCAGAGTATTATGGTCTATAAGATTTTCTATAAAATATTTCTCATTATTTGACTTAGCATGAAAAGTGAACTAATAATTTCTGAGTAATTTAAATCCCTTCTTTCCAAAGTTAGATCAACAGAGTCACTAGTTACTATCAGTCCTTTTCTAAACTACTCATGGAATGATCTTGTACTTTTAAAAGCAAATTTTATGCATTGGGTACAGTGTACACTGCTCTGGTGATGGGTGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATGCATGTAACCCAACACCACCTGTTCCCCAAAACCTATTGAAATAAAAAATAAATTTAAAAAAAGAAAAGACGAGGGGAATTTTGCCCAGCGAGATGTCAAAGCATATTACAAAGTAATTTTAATAAATGTAATGTGATATTAGTATATGAATAGATAAATATATCCTTAGAACAAAAATAGAAGTTCAGAAAAACAGACCCATGTAAAAAAAATCCCAAAGTAATTGGAGAATGTCAAAAACAATTTCTTCCTTACTCTGAAAAGGGCAGACACTGTCTGGAAAGAAGAGCCCTTCTTCTTACCACCTTTCTTGGCCCCTCCACCAGCTCCCTCTGAAGAAAAAGGAAGAAAAGAAATACTGTTTTGAATTGGCAGGGCTACTTCTTGCGTATTTGCTGATTTCTGTGTTCATCGAGTGGAGCCTTTTTTCTACCCAGCTGGCCTCTCTGATTGAGCCTGAATGAATCTTATTTTTCAACTAAGTTTGCAGCCACTTATCTGTGATTCTTTCTCCAGTGGGAAATGAGGCCAGGGATATTCACCTGACCGTATAGAGAGGGATTCCCTAATATTAGGACATGTGAGGAGCTAACTTCAAAAATCATCAATAGAAGCTAGTACTGAGAGGTGGAAGTTTGTCACTCTGTTGCCTAAGATTTATACCCTCAGATACTCTATATATCCTGCAGATGTGGAGGAAGAAGTAGGAGAGAATCGTAGAAGCTGAGGCTTTTCATTGGTTGAGAGCCTGATAATCCTCTCTGACTCTGCAATAGGGCTCCTGTCAGCAGTGGAGTGAGCCACAAATGTATAATTACAAGGCTGCCTATCTATTCAATACTTGGAGGAACCAGGGGCTTGGTCTGCAACCCTTCTGCCAGACCTAAGAGATCACTAGCTTCAATTTAAC | TCTCAAGTTTTTACCCATGCAATCAGATGGTGATGGTTCCTTCCTTAAGTTTTCTGGTACATGTGTATTCCCACTTCATTATAGGACTCTTATTCATTTCTTCTTTAGTGTCCTTATCATAAGCTGAGTCTTAACTGTAAGCCATTTCAAATATGTTTTTGAAGATGGAATATGTGAATAAACATATTTTTTATACCTTCTCTCCACCATCCTCTGGTACTCCACTCTTGCCAAGAACCCTCTGCACCTGGCCTGGGTTCGGGTAATCAGCTGGGCCAGCTTGTCATCTCGCATCTCCTCTAGGAGCCCCAGAAGACCAGCTTTGAAAAAGACCTGTGAATGGAAAGAGTTGCAAATCACAAGCTTTAATAAAGTTCAAAGGGACAGGAATAGCATCAGGTAGGATTTACAGAAAATTACCTTGGTGTGCCCAAATTTATACTGGGTGTGGTCAATGTCGATGGATGCAAGGAGCTTCTCAGAGGCCTTCTTGCTATCAATGAATTGCCCTTCAGGGATTGCACTTGCATTTAATACCTTGTATCTGTTGAAGTACATATAGCTTTTAACAACTAGTTTACTGATGACACAAATGCTAGCTAAACATTAAATGATTCATTTTTTAAAGCAGAGCTTTAAAAAAATATTATTCTTTGTTCACAAGGAGAACATTGTTTATTTGAATGGTCAACCCTTTGGCAACCAATTTTTATTCCATTTGCCTTTCCCTCGCAGTTGCAACTTTCCTTTCTGTCTCATCAGACCCTGTTCTTAGAAAAGGGTTCTGCCTTAAGAAAGGGACACATTATGGTGTGCCTAACCAATAAAATGTAATCTGTTATCTTTACTAGATGCATTTGCTTTTTAAGGCCCTGAATCCAAGAAAGCTACTTTTCATTGAAGAATTTGGTAGACAGTACACTTTAGGTATTCAGAACTATCCTAATCACCTAAAATCAAACTTAGACATGCTTTGGATCTTGAGCCCTGGAATCCTCTGTCAGTGCCACCTGACCCAGACCTGGGAGAGATCAGCTCCTAGCAGCTGCTACCCAGTCCTTCCCCACCTCTGCCTTTTCTTTGATTCTCAAGATGGGCTTATCTAGAGAGGAGAAAAGGGACCTGAGGAACAGTCATTGTGACATGTTCCCTCTGCCTCCAGGAAACCCTGGGAGTCTAATATGTGGGAGAAAAAGACGAACATAGATGATACCAAAGGAAATGACAGAAAATGAATAGCTATGTTTGTATGGAAGAGTTTCTAACTCAACCACTTAATAACTGTGACTTTGGGCAAGTACCTTAATTTCCCTGAGCCTCAGCTTATTCATCTATAAAGTGAAGTCTTAATAGTACCTACTTGCACTGTGTTTTTGCGAGGATTAAACAAGATAATCTGAACATATTAAGCACTCAAAAAGGTCGTTCTTAATTATTATTGGAGTTAACGTGTGCATCTATGAGCTAAGCTAAGTGCCTGATAAATCCAATGAAAATTCCACAAGGTGCTTAAAATTTTGTATATTTATATTTTAAAAGTATTTGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAAAACTTTTGGAGGCCAAGGCTGGCGGATGACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAGCATGGTGAAACCCCATCTGTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTCAAAACAAAAGTGTTCGAGACTTGAGACTTGTAATTTTTTTACTTCTTTTTGTGACAAAACTAACAAGTAGAGGCATATGTTTCACTAAATTGTTTTGCTTGCATTAAACTTGTTCATATTAAACTTCAGAATACACCATAATCAGGAGAAACTGACCTCTGTTTGAAGTCTGCATAAAGGATTCTGCTTGGAAATCCTTTCCTACAGATGCGGATGCCTTTCAGCACACCGTTACACCTCAGCTGGTGGAGGACAAGCTCATGCTCCATGGCACCTAAAAATGCATATTTATTTCACTGCAGAGCTGTTGAAAAGGAGGTGTGGCAGTCATCCTTTGCACTTTCATTATGGAATTTCTTACCAGGAGTTTTTGTCTCATTGGGGATGATACACCTCACAAAGTGAGGATGGGTACTCCTGAGGTTGGTCATCAGCTTGTTCAAATTCTCCTGTAAAACCAGGAAAAATCCTGTCATTTTAGGCTCTAGACATGGATATGAGCAGTCATTGGTGTCTATAAAATCAATATCTATAGCTGAGTTGAATGACCAGTATGGACTGCATTCATATAAGGCAACACTTTGAATGCTTCTTCTGAGATGCTTTTTCCTCCTCAATAGATCTTTCTGCACTTGAGTTTCCGAGAGTTACACACAGAACAAGGAAAGCATCCTGGCATGTGCTTCTTTTCAGTTTATGCCAACACCATCCTTTCTACCCTGGTCCCTGGCCATACACATACATTTACAAGGCCATTGCCTTCCCATGCGAGATGATCGCTCTTTCTTCTACCAAATTCCATAGTTCTCCAATAAGGAAATGGAAGCCTGCACCACATTTGGACGTTTTCCTTATAATACAGCTCCTCTTTTCCAGCTCTATCAATTTTTAGGGGATAGAGATTATCTACAGGGGAGCAATCCTACCAATTATAATTGAAAATTGACTCGATTAAGAGCAAGGATACCATATTAGCTGCACTGCAGATTTGCTGCTAGAATTCATGAGTTCATTAGCCATACTGATGTCTTTTAGTCTCTCTGAGTTCATGTCATTGCTCTTTTTCATGGCTCAGCTAGATTATGAATGGCAGAGTATTATGGTCTATAAGATTTTCTATAAAATATTTCTCATTATTTGACTTAGCATGAAAAGTGAACTAATAATTTCTGAGTAATTTAAATCCCTTCTTTCCAAAGTTAGATCAACAGAGTCACTAGTTACTATCAGTCCTTTTCTAAACTACTCATGGAATGATCTTGTACTTTTAAAAGCAAATTTTATGCATTGGGTACAGTGTACACTGCTCTGGTGATGGGTGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATGCATGTAACCCAACACCACCTGTTCCCCAAAACCTATTGAAATAAAAAATAAATTTAAAAAAAGAAAAGACGAGGGGAATTTTGCCCAGCGAGATGTCAAAGCATATTACAAAGTAATTTTAATAAATGTAATGTGATATTAGTATATGAATAGATAAATATATCCTTAGAACAAAAATAGAAGTTCAGAAAAACAGACCCATGTAAAAAAAATCCCAAAGTAATTGGAGAATGTCAAAAACAATTTCTTCCTTACTCTGAAAAGGGCAGACACTGTCTGGAAAGAAGAGCCCTTCTTCTTACCACCTTTCTTGGCCCCTCCACCAGCTCCCTCTGAAGAAAAAGGAAGAAAAGAAATACTGTTTTGAATTGGCAGGGCTACTTCTTGCGTATTTGCTGATTTCTGTGTTCATCGAGTGGAGCCTTTTTTCTACCCAGCTGGCCTCTCTGATTGAGCCTGAATGAATCTTATTTTTCAACTAAGTTTGCAGCCACTTATCTGTGATTCTTTCTCCAGTGGGAAATGAGGCCAGGGATATTCACCTGACCGTATAGAGAGGGATTCCCTAATATTAGGACATGTGAGGAGCTAACTTCAAAAATCATCAATAGAAGCTAGTACTGAGAGGTGGAAGTTTGTCACTCTGTTGCCTAAGATTTATACCCTCAGATACTCTATATATCCTGCAGATGTGGAGGAAGAAGTAGGAGAGAATCGTAGAAGCTGAGGCTTTTCATTGGTTGAGAGCCTGATAATCCTCTCTGACTCTGCAATAGGGCTCCTGTCAGCAGTGGAGTGAGCCACAAATGTATAATTACAAGGCTGCCTATCTATTCAATACTTGGAGGAACCAGGGGCTTGGTCTGCAACCCTTCTGCCAGACCTAAGAGATCACTAGCTTCAATTTAAC |
Task1_train_23789 | Consider this mutation in LOC126862501, MYH2, MYHAS (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455| myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Myopathy, proximal, and ophthalmoplegia | GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCATAATCCCATCACTTTGAGAGGCCAAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAACACAAATATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTAGCTGTGAGCTGAGATTTCGCCATTGCACTCTGGCCTGGGTGACAAAGTGAGACTCCATCTCAACAAACAAACAAACAAACAAACAAAACTATTGTAATCCAAAGAGGATAATCACATAATGGGAAAAGTTGTATCACTATAGTGTTGATTATATACAATCCAGAATTGGAAATAATCTATCTGTAAAGAGGGTATGGTTAAGTAATTTGTGCTTATTTCTAGAATAGAACACTATGCAACCATTGGAAATAATGATGTGGAGCTATATTTAGTGACATGGAAAAAGCTATGATACATAATTGCTCAGTAAAAAAGTAGATTACAGGAGAGCATGTAACCATGATTTCAGTTATGAAAATTGTATGTATGTATCTATATGTAGAGATATGTATACAGAAAATGACTAGAGAGATATTCATCCAAGTGTTCATGGTGGTTATTTCATAGTAGTAGGAATTAGAGATGTTATTTTCAGTTTTCCTTTTGATTTCCTTTGAATTTTTCTAATGAGCACATATAAATTTTTACCAAACTCACAAAGCTATTTATAAAATAAAAAGGCACATAAACTTGACAAAATTCAGTCATAGAATACTAGGTTGGACTGTGCATTGATAGGTACTGATGCAGTAATTCTGGAAAAGAATTATGACATTTCTTACCAATAAGTTCTGGTTTCTTATTCGATGTAATCTGGTAAAAAATATGATAACTTCTCTCAGCCTTAAGCTGGAAAACAACTCTAGACTTCTCTAGCAGATCTGGAAGGAAACAAATAACACATAAGAAAATTGTAAAAATTCATGTGACATGCGAATTTGATTTTTGGTCAGTTTTTTAGGTCATATGAATCAGAAATGATTTTAAAGATATCTGAACACTTACATGTTTCAATATCAGCAGATGCCAGTTTTCCAGTAGTGCCAAAGTGGATTCTGATGAATTTACCCTTGAAATAAAAGCTAATATTACTACCTTTTTTTTATATAATATTAAATCTTTGAGAAATTCCAAACATTTGATGCTGGTACTTTAATATTAAATCAATTCAGAGAGTATTTGCATCAGGTAGAAAAAGGTGTATCTCCTATTTTATAAGTAGAAGAGTTTTATCTTTGATTTAAAAATTGTAAATATTTCTTAAGTATGTGAAGTAATGGATATGTTAATTAGCATGTTAATCATTCCATAATATACACATAACATATATCAAAACATCACATTGTATTTCGTAAGTACAATTATTATTTGTAAATTAAAAATAAAAATTTTAAAATTGTGAGTAAGTGTAGATCATGACAGATAAGAAAGAACTCAGGAAAAAGGCCATATATCCTTCAAGATGGGGCTTTGATCTATGTTATTACATGCTCAGAGGAAAAGGAAAGAACAATGATGTAATAGAATGGGAATGAAAAAGATTCAGAGAATGTAATTACAAACATCTCATAAATTTTGACCAGTGAACAGCATCTATTAGCGTGTCCAAGAGACTTACAAAGCGAGAGGAGTTGTCATTCCTCACGGTCTTGGCGTTGCCAAAGGCCTCCAGTAGGGGGTTGGCACTGATGATTTGATCTTCCAGAGTCCCCTGCAAAGGCAAGAGCAGTCCTTGCATCTGGGGCTTGGGAATTTCCTACCTGAGAGTCCCGACAGAGTCTGGATTCTGACTGTGACAATCAGACTCACCTGTATTTTGCCAGAAGTAATTTCTTCCTTCTTCTTCTCACCAGTAACTGCAATTGTTGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCTGCACCAGATTCTCCACTGTCAAATCAAAACTCAATCAGATGTGGTCTCAAACCTAGCAGCTATCACAGCCATGTAAAGAAAGCATAAAATCTACTTACGTGATCAGGATTGACTGATTCTCTCGGTCTACAAAAGAAATTATAGACATTTAATACTGTTTTCTTACATATTTGTAAATGATAAGTAAAGTAAAATGGAATGAACTTAGTATTATTCAGTCTGGACTTTGCAACCTTTAGGGCTTGGCAGGCTTTAGACCTACCACTTTCTCCCTCCCCAACTTTAGCACACATCCACCCATTTAAACAGAACACCACTACTTTTATTGGTTTTATATTCAAATCTTCCAAGAAATATTTCCTTCGAGGAAAAAAATTCTAAGATGAAGGAAAATGTTTGAATGCCACTCTATAAGTGATGACCACGTGGCTGTGTATTCCTGAAGCACCAGACTTTTTCTTTTTAATACTCTATCACTAAATAAACACCAAAAGTAGACTTGGCTCTTTGGTTAGGTTTAGTTGATGATTTAAGTTAGGGACATATATATTGTGGGTGCAAGGCGTAATGAAGAATGAGCATTAGAGATATTTTTAATGTGTGAAAAGGAGTAAGTACAGTAAAGGTGATAGTTTTAGAAATACGGCTTTGGTCATATTTTTAGGAAAAGGTAAAATTTTGTTTTGATGTTTTACTGTCTCTGAAGAGGAATTCTCTAAGCCCCTTCTCAAGGTGCCACAAGTAGTTTAGATTGGTCTAGCCAAGACAATATTGTAGGAAGCAGATTCAACATCTAACTGTTTTAATACCAAATACACCTTAAATCTGGAGCCTGTTCAGGTTGGTTCTGGGCAAAGGGCGATAGCATTGTGCCGTCCTTCATATAGAGAGACTGTTTAATCTGTCACAATTTAGGATGCTGAGGCTGAAACTACAGAGACAAGTTTTACTCTTCCATTTTTTGGCTCATAGTAACGGAGACACAGTTTGTATGTGTGATTGTGCGTGCATGAGTGTGTGTGTGTGTGTGTATATATACATACACAGAAATATTTGTATTTTTGCTCATATTTATTTGAGTTTCTGAGTCATTCAAAAGTATACTAACTAACCATGGCCAGCCTCTGTTGAACTTTTCAAAATTTAAGAGATCATTAGCAATTATGTAATATTACGCATTACAAATCAGCCTTTCTCCCCTTCCTGGACCTTCTCCTTCATAAATACACCAGCCTCAACTAAAAGGGACGATCTCAAGGAATGTGTTGAGATTGCCTCGAGTCTCTTTCTCCTATGGTTCTGCTCTAAAGGTTTACGCACTTGCAAAGCATTCGGCTCACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGCGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGGCTGTCACCACCTCGGGCTTATACACAGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGACCTGAATAGGTCTATGAGAAGGAAAAAGAATAAGTACCCAAAGACCTTTCCTGTTATTTGTGAAATTAACTTATTAATTGAATGTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTACCTCAGCTCACTGCAGCCCCAACCTCCCGGGCTCAAGCAATCCTCCCACCTCACCCTTCCAAGTAGCTGGTACTACAGGCATGCATCACCATGCCCAGCTAATTTTGTACGTGCTTTTTGTAGAGCTAAAGTCTCACTTTGTTGCCCAGGCTGGTCTGGAAATT | GGGGCATCACAGAATCTGCCGACATGTGATGTCTCCCCCAGATACCCAGCTTTAAAATTTCTCTCTTTTGTACTCTTTCCCTTTATTTCTCAGACCAGCCAGCACTTAGGAAATAGAAAAGAACCTATGTGAAATAACATTGAATTATTGGGGGTGGGTTCCCCCGATATCACATGATGCTTTGTTGATGACTGATGGGCACTGGAGAGGCGTTTAAAGGATATTAGGCACCATCGCAAACACCTTGAAGTTGATGTCATGGTGCTCTTATAAATCCTTATTAAAAAATAAAATGGCCGGGCACAGTGTCTCATGCCCATAATCCCATCACTTTGAGAGGCCAAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAACACAAATATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTAGCTGTGAGCTGAGATTTCGCCATTGCACTCTGGCCTGGGTGACAAAGTGAGACTCCATCTCAACAAACAAACAAACAAACAAACAAAACTATTGTAATCCAAAGAGGATAATCACATAATGGGAAAAGTTGTATCACTATAGTGTTGATTATATACAATCCAGAATTGGAAATAATCTATCTGTAAAGAGGGTATGGTTAAGTAATTTGTGCTTATTTCTAGAATAGAACACTATGCAACCATTGGAAATAATGATGTGGAGCTATATTTAGTGACATGGAAAAAGCTATGATACATAATTGCTCAGTAAAAAAGTAGATTACAGGAGAGCATGTAACCATGATTTCAGTTATGAAAATTGTATGTATGTATCTATATGTAGAGATATGTATACAGAAAATGACTAGAGAGATATTCATCCAAGTGTTCATGGTGGTTATTTCATAGTAGTAGGAATTAGAGATGTTATTTTCAGTTTTCCTTTTGATTTCCTTTGAATTTTTCTAATGAGCACATATAAATTTTTACCAAACTCACAAAGCTATTTATAAAATAAAAAGGCACATAAACTTGACAAAATTCAGTCATAGAATACTAGGTTGGACTGTGCATTGATAGGTACTGATGCAGTAATTCTGGAAAAGAATTATGACATTTCTTACCAATAAGTTCTGGTTTCTTATTCGATGTAATCTGGTAAAAAATATGATAACTTCTCTCAGCCTTAAGCTGGAAAACAACTCTAGACTTCTCTAGCAGATCTGGAAGGAAACAAATAACACATAAGAAAATTGTAAAAATTCATGTGACATGCGAATTTGATTTTTGGTCAGTTTTTTAGGTCATATGAATCAGAAATGATTTTAAAGATATCTGAACACTTACATGTTTCAATATCAGCAGATGCCAGTTTTCCAGTAGTGCCAAAGTGGATTCTGATGAATTTACCCTTGAAATAAAAGCTAATATTACTACCTTTTTTTTATATAATATTAAATCTTTGAGAAATTCCAAACATTTGATGCTGGTACTTTAATATTAAATCAATTCAGAGAGTATTTGCATCAGGTAGAAAAAGGTGTATCTCCTATTTTATAAGTAGAAGAGTTTTATCTTTGATTTAAAAATTGTAAATATTTCTTAAGTATGTGAAGTAATGGATATGTTAATTAGCATGTTAATCATTCCATAATATACACATAACATATATCAAAACATCACATTGTATTTCGTAAGTACAATTATTATTTGTAAATTAAAAATAAAAATTTTAAAATTGTGAGTAAGTGTAGATCATGACAGATAAGAAAGAACTCAGGAAAAAGGCCATATATCCTTCAAGATGGGGCTTTGATCTATGTTATTACATGCTCAGAGGAAAAGGAAAGAACAATGATGTAATAGAATGGGAATGAAAAAGATTCAGAGAATGTAATTACAAACATCTCATAAATTTTGACCAGTGAACAGCATCTATTAGCGTGTCCAAGAGACTTACAAAGCGAGAGGAGTTGTCATTCCTCACGGTCTTGGTGTTGCCAAAGGCCTCCAGTAGGGGGTTGGCACTGATGATTTGATCTTCCAGAGTCCCCTGCAAAGGCAAGAGCAGTCCTTGCATCTGGGGCTTGGGAATTTCCTACCTGAGAGTCCCGACAGAGTCTGGATTCTGACTGTGACAATCAGACTCACCTGTATTTTGCCAGAAGTAATTTCTTCCTTCTTCTTCTCACCAGTAACTGCAATTGTTGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCTGCACCAGATTCTCCACTGTCAAATCAAAACTCAATCAGATGTGGTCTCAAACCTAGCAGCTATCACAGCCATGTAAAGAAAGCATAAAATCTACTTACGTGATCAGGATTGACTGATTCTCTCGGTCTACAAAAGAAATTATAGACATTTAATACTGTTTTCTTACATATTTGTAAATGATAAGTAAAGTAAAATGGAATGAACTTAGTATTATTCAGTCTGGACTTTGCAACCTTTAGGGCTTGGCAGGCTTTAGACCTACCACTTTCTCCCTCCCCAACTTTAGCACACATCCACCCATTTAAACAGAACACCACTACTTTTATTGGTTTTATATTCAAATCTTCCAAGAAATATTTCCTTCGAGGAAAAAAATTCTAAGATGAAGGAAAATGTTTGAATGCCACTCTATAAGTGATGACCACGTGGCTGTGTATTCCTGAAGCACCAGACTTTTTCTTTTTAATACTCTATCACTAAATAAACACCAAAAGTAGACTTGGCTCTTTGGTTAGGTTTAGTTGATGATTTAAGTTAGGGACATATATATTGTGGGTGCAAGGCGTAATGAAGAATGAGCATTAGAGATATTTTTAATGTGTGAAAAGGAGTAAGTACAGTAAAGGTGATAGTTTTAGAAATACGGCTTTGGTCATATTTTTAGGAAAAGGTAAAATTTTGTTTTGATGTTTTACTGTCTCTGAAGAGGAATTCTCTAAGCCCCTTCTCAAGGTGCCACAAGTAGTTTAGATTGGTCTAGCCAAGACAATATTGTAGGAAGCAGATTCAACATCTAACTGTTTTAATACCAAATACACCTTAAATCTGGAGCCTGTTCAGGTTGGTTCTGGGCAAAGGGCGATAGCATTGTGCCGTCCTTCATATAGAGAGACTGTTTAATCTGTCACAATTTAGGATGCTGAGGCTGAAACTACAGAGACAAGTTTTACTCTTCCATTTTTTGGCTCATAGTAACGGAGACACAGTTTGTATGTGTGATTGTGCGTGCATGAGTGTGTGTGTGTGTGTGTATATATACATACACAGAAATATTTGTATTTTTGCTCATATTTATTTGAGTTTCTGAGTCATTCAAAAGTATACTAACTAACCATGGCCAGCCTCTGTTGAACTTTTCAAAATTTAAGAGATCATTAGCAATTATGTAATATTACGCATTACAAATCAGCCTTTCTCCCCTTCCTGGACCTTCTCCTTCATAAATACACCAGCCTCAACTAAAAGGGACGATCTCAAGGAATGTGTTGAGATTGCCTCGAGTCTCTTTCTCCTATGGTTCTGCTCTAAAGGTTTACGCACTTGCAAAGCATTCGGCTCACTCACCAGTCAGCATGAACTGATAGGCGTTGTCAGAGATGGAGAAGATGTGGGGCGGGGCCTCCTGGCGCTTTTTGCCTCGGTAGGCTGTCACCACCTCGGGCTTATACACAGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGACCTGAATAGGTCTATGAGAAGGAAAAAGAATAAGTACCCAAAGACCTTTCCTGTTATTTGTGAAATTAACTTATTAATTGAATGTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTACCTCAGCTCACTGCAGCCCCAACCTCCCGGGCTCAAGCAATCCTCCCACCTCACCCTTCCAAGTAGCTGGTACTACAGGCATGCATCACCATGCCCAGCTAATTTTGTACGTGCTTTTTGTAGAGCTAAAGTCTCACTTTGTTGCCCAGGCTGGTCTGGAAATT |
Task1_train_23790 | An alteration has been detected in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGCATGAGCTACCACACCCGGCCTCCCTTATGTTTTTATTATACACCAGGACCTTTAAACACTGGCCATGTTTCTCTCTTTAGTCTCAAAAACTTGGACGCAGACAATGAATATCTGAGTTAAGAAGTATCAAGGCCCTGGCTCTTAGTTTCTAGTCTCATTTCTGCCCATCAGAGTCTGTCTGATGCAAGTTTATATTAATTTTGAAAGAGTTTGAATGAGATGATATTTTGAGCCCCTTCTCATTCTGGTCTACTCCTCTTTCTCTCTTATTCTTACTGAACTCTCAATGTTCTCTCCCTTCAGGCTATTTCAAATGGCTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGT 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GCCACATTTTCTAGGCGAAAACTCCAAATAACATTCCCTTAAACTTTTTTTTTTTTTGAGACAGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTCGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTTGACAGGCATGAGCTACCACACCCGGCCTCCCTTATGTTTTTATTATACACCAGGACCTTTAAACACTGGCCATGTTTCTCTCTTTAGTCTCAAAAACTTGGACGCAGACAATGAATATCTGAGTTAAGAAGTATCAAGGCCCTGGCTCTTAGTTTCTAGTCTCATTTCTGCCCATCAGAGTCTGTCTGATGCAAGTTTATATTAATTTTGAAAGAGTTTGAATGAGATGATATTTTGAGCCCCTTCTCATTCTGGTCTACTCCTCTTTCTCTCTTATTCTTACTGAACTCTCAATGTTCTCTCCCTTCAGGCTATTTCAAATGGCTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTGGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGT 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Task1_train_23791 | Located on Chromosome 17, this mutation impacts MYH3 (myosin heavy chain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAAC 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TGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGGAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAAC 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Task1_train_23792 | This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Freeman-Sheldon syndrome | CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGC | CCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCCAGGTCCCTGCGCAGCTTCAGGAACTCCGCCTCCCGCTTCTTGTTGAGCTCTATCTGCGTGGAGGTGACGCCTCCCGCCTCCTCCAGCCGCTCGCTCAGCTCCTCCAGCTCCCGGGCATAGTCGCTGCGCTGTTTCTCTGTCTTCGCGCGGGTGGCCCTCTCCGCCTCTATCTCCTCTTCCAGCTCCTCAATTCGAGCCTGTGGAGGGCAGCCGTTCACCCCGTGGGCAGTGGGTTCACCGCGGGGACTCTGATTGCCAAGAACAGGCTGGTTTCCCTTCCCATTAGACAAACTGAGTCTTAGACTCCCCTCCAATGAATACTGCAAATTTCCTTTCACAGGAATTTTTTCTGCCCCAACATGGTAATTACTCCTGCAGTGACCAAACCTGAACATTTTCCACCAACTAAATGTTAACTTTTAGTTGTTAACTTAAATACTTTAATTATGGATTAAAGTATTTAATCAGATGTTTTGGGGAAATGGTTCATCATGGCCAGGCCAGCCTAGCAGAAAGGGAACCATGAGGCAGGTGGCCCCACAGTCTTGCCCACTTTCTCTAAATGGCTTATAGCAGACAGCACCCAGCTCACTGTAAGTGGCCTCACATGGAAGAGAGAAATGCAGAGGGCTCCTACCTGCAACTCTTTGATTTTCTTCTGAAACTGGAGGCCCAGTGTCTGCTCATCTTCCACTTTGCTTTGAAGTTGACAATATTCAAAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGTCGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGC 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Task1_train_23793 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTC 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CTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCGTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTC 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Task1_train_23794 | A genomic change on Chromosome 17 affects MYH3 (myosin heavy chain 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCT 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CCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTTGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCT 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Task1_train_23795 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Freeman-Sheldon syndrome | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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Task1_train_23796 | Here is a genetic alteration in MYH3 (myosin heavy chain 3) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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Task1_train_23797 | This mutation occurs in MYH3 (myosin heavy chain 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arthrogryposis, distal, type 2B3 | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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Task1_train_23798 | This sequence variant lies in MYH3 (myosin heavy chain 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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Task1_train_23799 | This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Freeman-Sheldon syndrome | GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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GGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAATGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTG 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