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_28500 | A variant found in Chromosome 21 affects COL6A1 (collagen type VI alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Bethlem myopathy 1A | GAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTT | GAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGAGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTT 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Task1_train_28501 | Here is a genetic alteration in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bethlem myopathy 1A | GGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCT 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GGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCCGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCT 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Task1_train_28502 | Given a variant located on Chromosome 21 and affecting COL6A1 (collagen type VI alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Bethlem myopathy 1A | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTC 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GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGAACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTC 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Task1_train_28503 | A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bethlem myopathy 1A | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTC 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GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGTACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTC 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Task1_train_28504 | This alteration occurs within gene COL6A1 (collagen type VI alpha 1 chain) located on Chromosome 21. Is it associated with a disease or is it a benign variant? | Pathogenic; Bethlem myopathy 1A | CCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGA 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CCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGAGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGA 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Task1_train_28505 | This is a variant in COL6A1 (collagen type VI alpha 1 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCT 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GGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGCGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCT 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Task1_train_28506 | Here is a variant affecting COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Bethlem myopathy 1A | GGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTG 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GGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGAAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTG 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Task1_train_28507 | Consider a variant on Chromosome 21 in gene COL6A1 (collagen type VI alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Bethlem myopathy 1A | CGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGA 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CGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGTGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGA 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Task1_train_28508 | The gene COL6A1 (collagen type VI alpha 1 chain), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGAC 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GGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAATGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGAC 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Task1_train_28509 | Mutation context: Chromosome 21, Gene COL6A1 (collagen type VI alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bethlem myopathy 1A | CTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAAC 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CTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCATGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAAC 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Task1_train_28510 | Chromosome 21 houses a mutation in gene COL6A1 (collagen type VI alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bethlem myopathy 1A | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGACCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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Task1_train_28511 | This variant lies on Chromosome 21 and affects the gene COL6A1 (collagen type VI alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; COL6A1-related disorder | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGTCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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Task1_train_28512 | Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bethlem myopathy 1A | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGTCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACC 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Task1_train_28513 | The gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Bethlem myopathy 1A | GGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTC 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GGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGTGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTC 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Task1_train_28514 | This is a variant in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Bethlem myopathy 1A | TCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGGTGAGCCGCGGGCGGGAGCACCGTCCACGCGCCAGGGGTGGCCACGGTGGGCCGTCCACCCACTCCGGGCCTCACTTTACCCCTCTGTGAGTGCGGAGGCCGAAGGAGGAAGCTCCGGGCAGGGCCTGGGCCACTCAGGTGTCCCTCCATCCCCACCCAGACTCGAGGTGCAGCCGCCCCAGGTCTCGAGGCACACGGCTAACCAGCATGTCTGTCTTTTCTGCAGAAACACGAAGCCTACGGAGAGGTGAGTGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGC 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TCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGGTGAGCCGCGGGCGGGAGCACCGTCCACGCGCCAGGGGTGGCCACGGTGGGCCGTCCACCCACTCCGGGCCTCACTTTACCCCTCTGTGAGTGCGGAGGCCGAAGGAGGAAGCTCCGGGCAGGGCCTGGGCCACTCAGGTGTCCCTCCATCCCCACCCAGACTCGAGGTGCAGCCGCCCCAGGTCTCGAGGCACACGGCTAACCAGCATGTCTGTCTTTTCTGCAGAAACACGAAGCCTACGGAGAGGTGAGTGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGACTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGC 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Task1_train_28515 | This sequence change occurs on Chromosome 21, altering COL6A2 (collagen type VI alpha 2 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Bethlem myopathy 1A | ACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGGTGAGCCGCGGGCGGGAGCACCGTCCACGCGCCAGGGGTGGCCACGGTGGGCCGTCCACCCACTCCGGGCCTCACTTTACCCCTCTGTGAGTGCGGAGGCCGAAGGAGGAAGCTCCGGGCAGGGCCTGGGCCACTCAGGTGTCCCTCCATCCCCACCCAGACTCGAGGTGCAGCCGCCCCAGGTCTCGAGGCACACGGCTAACCAGCATGTCTGTCTTTTCTGCAGAAACACGAAGCCTACGGAGAGGTGAGTGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGC 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ACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGGTGAGCCGCGGGCGGGAGCACCGTCCACGCGCCAGGGGTGGCCACGGTGGGCCGTCCACCCACTCCGGGCCTCACTTTACCCCTCTGTGAGTGCGGAGGCCGAAGGAGGAAGCTCCGGGCAGGGCCTGGGCCACTCAGGTGTCCCTCCATCCCCACCCAGACTCGAGGTGCAGCCGCCCCAGGTCTCGAGGCACACGGCTAACCAGCATGTCTGTCTTTTCTGCAGAAACACGAAGCCTACGGAGAGGTGAGTGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGAACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGC 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Task1_train_28516 | This variant affects the gene COL6A2 (collagen type VI alpha 2 chain) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bethlem myopathy 1A | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAG 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TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGAGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAG 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Task1_train_28517 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; COL6A2-related core myopathy | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAG 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TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGAGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAG 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Task1_train_28518 | A mutation in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bethlem myopathy 1A | AGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAG 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AGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGAGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAG 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Task1_train_28519 | A mutation found in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; COL6A2-related disorder | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGG 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GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGACAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGG 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Task1_train_28520 | This variant affects the gene COL6A2 (collagen type VI alpha 2 chain) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bethlem myopathy 1A | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGG 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GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGTCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGG 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Task1_train_28521 | This mutation occurs in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGT 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TCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGTCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGT 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Task1_train_28522 | A variant found in Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCA 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GCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGCGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCA 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Task1_train_28523 | A variant on Chromosome 21 in gene COL6A2 (collagen type VI alpha 2 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATG 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CACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGTGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATG 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Task1_train_28524 | The gene COL6A2 (collagen type VI alpha 2 chain) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bethlem myopathy 1A | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGA 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AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAAGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGA 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Task1_train_28525 | Gene COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bethlem myopathy 1A | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGA 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AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAACGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGA 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Task1_train_28526 | Chromosome 21 houses a mutation in gene COL6A2 (collagen type VI alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bethlem myopathy 1A | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGAT | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGACCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGAT |
Task1_train_28527 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bethlem myopathy 1A | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGAT | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGTCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGAT 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Task1_train_28528 | Assess the clinical impact of this variant on gene COL6A2 (collagen type VI alpha 2 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bethlem myopathy 1A | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAG | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGAATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAG 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Task1_train_28529 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bethlem myopathy 1A | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAG 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CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGTATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAG 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Task1_train_28530 | This is a variant in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Bethlem myopathy 1A | CCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCT 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CCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCACGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCT 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Task1_train_28531 | This variant impacts the gene COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bethlem myopathy 1A | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGAC 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GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGAGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGAC 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Task1_train_28532 | A variant has been detected on Chromosome 21 in COL6A2 (collagen type VI alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bethlem myopathy 1A | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGAC 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GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGTGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGAC 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Task1_train_28533 | This variant lies on Chromosome 21 and affects the gene COL6A2 (collagen type VI alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Bethlem myopathy 1A | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACA 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CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGACGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACA 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Task1_train_28534 | Here is a genetic alteration in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACA 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CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGACGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACA 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Task1_train_28535 | Consider this mutation in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is this a benign change or a disease-causing variant? | Pathogenic; Bethlem myopathy 1A | GAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACACACACTCTGCCCTCAGCTGGCACGGAGGTTCCAGCAGCCCCCAGCCAGCATCTGGCATCCCAGGTGCCCCGTGGACATCAGGGAGGTGCAGTCCCAAGCCCGACCGTGGGTCCTGCCCCCGCAGCGGGCATCCTGCACCCCCCTTCCCCTGCCAAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGTGAGCCCCTCTGCCTCTTCGCCTGCAGCTGAGCTGGCCACACTCACG 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GAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAACGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACACACACTCTGCCCTCAGCTGGCACGGAGGTTCCAGCAGCCCCCAGCCAGCATCTGGCATCCCAGGTGCCCCGTGGACATCAGGGAGGTGCAGTCCCAAGCCCGACCGTGGGTCCTGCCCCCGCAGCGGGCATCCTGCACCCCCCTTCCCCTGCCAAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGTGAGCCCCTCTGCCTCTTCGCCTGCAGCTGAGCTGGCCACACTCACG 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Task1_train_28536 | A genetic alteration is present in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Bethlem myopathy 1A | GGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCC 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GGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGACACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCC 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Task1_train_28537 | This alteration in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ullrich congenital muscular dystrophy 1B | CCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCACAGACATCCCAACAGCCTCAGCCTCCCTGTGCCTGGCCGGCCCCCACAGCTTCCCCGTCTCCTCCAGGCCCCACAGACACTGATGAATGGACAGAGACCCCCAAAACCAGCTGCCCCTTGCATGTCTGTCTCCATATGTTTGGTGACAGCAGTGAAAATGTTATTAGTTTTGAGGGGGTTTGGGAAGCCCAGCGGTACCTGAGGAGTTTCTGGACATTTAAGCCGGTTCCTAGGTGTGGCCTTAACAGGGAGGCTGCCCTTCCTTTCACTGAATGAGCTGCGTCACTCATAAGCTCACTGAGGGAACCCCATCTGCCAGCTCGTGCGTGCTCAGACGGCGTCCATGTCTCAAGCGTTCTGTGAAGGCTGCGGTGCAGCGTGAGGTCACCCTGCTGTGTTCAGAGCTTTGCTCACTGCCTGCGGGGCTGGACCGTTGCACCTCCAGGGCCCCCAGAAACCGAGTTTCGGGTCAGGGTCCTCTGTGTGCATTCCTGGGGGTCCATGTACCAGCTGTGACGACGTCCAGGGGTTGGGCTGAGAAGCAGACACCCTTGGGGAAACTGGCTCTGTCCCTCCCCTCCCCCATCCCAGGAGCTGAGGTCTTGGTGAGGCCACAGGGCCAGGTCCACGCAAGGACTGTCCGTGTCCTGTCCTGTGGTCTCTGGCCCCACGTGACACCCACACGTGTGGTAGGCAGCCTGGCCTGGGTTGTGGCTATGGCCAGGCCCCCAAGCTGTCCCCGATGCCCAGGGCTGGTGACCACCCAGGCAGGTGGGGGCCCCACTTGGTAACAGAGTCATAGGGCAGAACCCACCTGGGCTGCCACAGAAGGTCTGGCTGCCCCTGTGCCCACTGCTCCCCACCATGGCCAATCAGAAGAGTCAGGGGCTCCTGGTCTTTCCGGGAGGGACGTGGCCCAGCCAGCTCTAGGTGTTCTGAGCAGCTCTGGGACCCAGCGATTGAGGGGTCAGGCTGGGGGTGTCAGAGCCAGGGTCCTCCTTAAGTACCTCCCACACTACACAGACAGTGGCCCTTTTGTGGGCAGCAAATTCTTGAGCCATGAAAGGATGCTTTGGGCCCCTTCCCTCCCAGGAGGGCAGCCTGTGCAGGGATGGTGCTCAGCAGGTGGACAGGGCCTGGGGCCTGTGTCAGGGTCTCAGGCCTGGGAGCACCAGCAGAGGAGATGGCGGCTCCCAGCAGTGCCGCCTGAAAGTGTCTTGGGCTAAGGACCCACACCCAGGGCTGCCCTGCAGAAACGCCCCCGCAGAGCCCAGTGGTCTGTGAGGTTGCAGGCAGGGTGCGAATGGAAGGGCACAGGTGCGGGGCTGGCACCTGCCCGGTCCTGCCCACCTCCCCTCCGCCCAGCCCGCACCTGCGTCTCCCCACAGAGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCCATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCCATCCCAAGGCTCCTGACCTACCTGGCCCCTGAGCTCTGGAGCAAGCCCTGACCCAATAAAGGCTTTGAACCCATTGCGTGCCTGCTTGCGAGCTTCTGTGCGCAGGAGAGACCTCAAAGGTGTCTTGTGGCCAGGAGGGAAACACTGCAGCTGTCGCTCGCCCACCAGGGTCAATGGCTCCCCCGGGCCCAGCCCTGACCTCCTAGGACATCAACTGCAGGTGCTGGCTGACCCCGCCTGTGCAGACCCCACAGCCTTGATCAGCAAACTCTCCCTCCAGCCCCAGCCAGGCCCAAAGTGCTCTAAGAAGTGTCACCATGGCTGAGGGTCTTCTGTGGGTGGACGCATGATTAACACTAGACGGGGAGACAGCAGGTGCTGAGCCTGTTGTGTTCTGTGTGGAGATCTCAGTGAGTTTTTGCTGTTCAGACCCCAGGGTCCTTCAGGCTCAGCTCAGGAGCCCCACAGTGAACCAGAGGCTCCACAGGCAGGTGCTGACCTGACAGGAGTGGGCTTGGTGGCCATCACAGGGCACCACAGACACAGCTTGAACAACTACCAGTATCGGCCACAGGCCTGGAGGCATCAGCCGGGCCATGCTTCCTCTGGAGGGCTAGAGGAGGACTAGAGAAGGGCCTGCCCCGGCCTCTCCCCAGCATCCCAGGGTTCCTGATCTCCTGGATAAGGATACAAGTCACCACACTGGACTGGGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACAGTGGACCAGGCTCAGCCTGCTCTAAGGTGAGCTTACCCGAGACACTGGACCAGAGATCAGCCTATCCTGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTACTCTGGGATGAGCTCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCAGAGTCACAGTGGACCAAGGCTCAGCCTGCTCTAGGATGACCTCAC 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CCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCACAGACATCCCAACAGCCTCAGCCTCCCTGTGCCTGGCCGGCCCCCACAGCTTCCCCGTCTCCTCCAGGCCCCACAGACACTGATGAATGGACAGAGACCCCCAAAACCAGCTGCCCCTTGCATGTCTGTCTCCATATGTTTGGTGACAGCAGTGAAAATGTTATTAGTTTTGAGGGGGTTTGGGAAGCCCAGCGGTACCTGAGGAGTTTCTGGACATTTAAGCCGGTTCCTAGGTGTGGCCTTAACAGGGAGGCTGCCCTTCCTTTCACTGAATGAGCTGCGTCACTCATAAGCTCACTGAGGGAACCCCATCTGCCAGCTCGTGCGTGCTCAGACGGCGTCCATGTCTCAAGCGTTCTGTGAAGGCTGCGGTGCAGCGTGAGGTCACCCTGCTGTGTTCAGAGCTTTGCTCACTGCCTGCGGGGCTGGACCGTTGCACCTCCAGGGCCCCCAGAAACCGAGTTTCGGGTCAGGGTCCTCTGTGTGCATTCCTGGGGGTCCATGTACCAGCTGTGACGACGTCCAGGGGTTGGGCTGAGAAGCAGACACCCTTGGGGAAACTGGCTCTGTCCCTCCCCTCCCCCATCCCAGGAGCTGAGGTCTTGGTGAGGCCACAGGGCCAGGTCCACGCAAGGACTGTCCGTGTCCTGTCCTGTGGTCTCTGGCCCCACGTGACACCCACACGTGTGGTAGGCAGCCTGGCCTGGGTTGTGGCTATGGCCAGGCCCCCAAGCTGTCCCCGATGCCCAGGGCTGGTGACCACCCAGGCAGGTGGGGGCCCCACTTGGTAACAGAGTCATAGGGCAGAACCCACCTGGGCTGCCACAGAAGGTCTGGCTGCCCCTGTGCCCACTGCTCCCCACCATGGCCAATCAGAAGAGTCAGGGGCTCCTGGTCTTTCCGGGAGGGACGTGGCCCAGCCAGCTCTAGGTGTTCTGAGCAGCTCTGGGACCCAGCGATTGAGGGGTCAGGCTGGGGGTGTCAGAGCCAGGGTCCTCCTTAAGTACCTCCCACACTACACAGACAGTGGCCCTTTTGTGGGCAGCAAATTCTTGAGCCATGAAAGGATGCTTTGGGCCCCTTCCCTCCCAGGAGGGCAGCCTGTGCAGGGATGGTGCTCAGCAGGTGGACAGGGCCTGGGGCCTGTGTCAGGGTCTCAGGCCTGGGAGCACCAGCAGAGGAGATGGCGGCTCCCAGCAGTGCCGCCTGAAAGTGTCTTGGGCTAAGGACCCACACCCAGGGCTGCCCTGCAGAAACGCCCCCGCAGAGCCCAGTGGTCTGTGAGGTTGCAGGCAGGGTGCGAATGGAAGGGCACAGGTGCGGGGCTGGCACCTGCCCGGTCCTGCCCACCTCCCCTCCGCCCAGCCCGCACCTGCGTCTCCCCACAGAGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCAAGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCCATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCCATCCCAAGGCTCCTGACCTACCTGGCCCCTGAGCTCTGGAGCAAGCCCTGACCCAATAAAGGCTTTGAACCCATTGCGTGCCTGCTTGCGAGCTTCTGTGCGCAGGAGAGACCTCAAAGGTGTCTTGTGGCCAGGAGGGAAACACTGCAGCTGTCGCTCGCCCACCAGGGTCAATGGCTCCCCCGGGCCCAGCCCTGACCTCCTAGGACATCAACTGCAGGTGCTGGCTGACCCCGCCTGTGCAGACCCCACAGCCTTGATCAGCAAACTCTCCCTCCAGCCCCAGCCAGGCCCAAAGTGCTCTAAGAAGTGTCACCATGGCTGAGGGTCTTCTGTGGGTGGACGCATGATTAACACTAGACGGGGAGACAGCAGGTGCTGAGCCTGTTGTGTTCTGTGTGGAGATCTCAGTGAGTTTTTGCTGTTCAGACCCCAGGGTCCTTCAGGCTCAGCTCAGGAGCCCCACAGTGAACCAGAGGCTCCACAGGCAGGTGCTGACCTGACAGGAGTGGGCTTGGTGGCCATCACAGGGCACCACAGACACAGCTTGAACAACTACCAGTATCGGCCACAGGCCTGGAGGCATCAGCCGGGCCATGCTTCCTCTGGAGGGCTAGAGGAGGACTAGAGAAGGGCCTGCCCCGGCCTCTCCCCAGCATCCCAGGGTTCCTGATCTCCTGGATAAGGATACAAGTCACCACACTGGACTGGGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACAGTGGACCAGGCTCAGCCTGCTCTAAGGTGAGCTTACCCGAGACACTGGACCAGAGATCAGCCTATCCTGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTACTCTGGGATGAGCTCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCAGAGTCACAGTGGACCAAGGCTCAGCCTGCTCTAGGATGACCTCAC 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Task1_train_28538 | Gene FTCD (formimidoyltransferase cyclodeaminase), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glutamate formiminotransferase deficiency | GGCTCCTAAAACTCTGGAATTTCAGTAATAAACAGGTATTTACCTACTCAATACTTTAAACACCTTCAAGTACTCCCCACAACGTATTAATTGCAAAAGGAAAAATAGTAACATTGCAGTGAAGGGTCCAGGAGGAAGGGGGTCGCCTTGGCAAGTGACGGGTCCACGTCGGCACCCTGAGAAAATGAGCATCATGGGGAGTCGGCGTCTCTGAGGAGGACACAATACCATCTATGCTTTTCCTGCCAAAAATGCGTAACTGGCTGGGCGTGTTGGTGCACACCTGTCGTCCCAACACTTTTAGGAGGCTGACGTGAGTGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAATAGAGCAAAACCCCATCTGTACAAAATTAGCCAGGACTACATAGTGGTCCTTGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAAGATCACCTGAGCCCTGGAGTTTGGGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAGAAGTAACAAATTAAATTAAAATAAAAATGCACAACTACATCTGGCCACAAGCAACATCAGACTAGTCCCCACTGAGGCGCTTTTAAAAGTCTGTCCTTTGAAACTATGTCAAGGTCAATGAAGGACAAGGAAGACAGGAACAGTTGGAAGAAAGGAGAAAAGGTTGGCTCAGTGCTCTGTGTTACGTGAACTGGATCACGGATTGGAGGAGAAATCGCTATGATGGGAATCACTGGGACACTGAAGCAATTTGATTATGGCCTGAGGATTATTAGATACTAGGATTGTATCAGTGTTGAATTTCCTGATTTTGATAATTACACTGTGGTTATGTAAGAGAATGTCCCTGTTCTTAAGAAACACAGCCTTAATAAATTAGGGGTAAAAGAGTACAATGTCTTCAACCCAACTTTTAAATAGTCCGGAAAAAAATATAATATGATTATACACAAATAAATGGGGCAAAATGCAAGCACTTGGAAAATATGGGTGGGAGGCAGGAGTGGAGGGCCACCTGTATCTTCTCTGTAAGAAATTATACAAAATGTAAAGTCACAAAAAATTTTGTTAACAGCCAAGAATACAACAGACAAGGCCACAAACGCACCAATGATTGAGGCTGGGTTTTGGAAAACCACTGTGAATCCAGAGGAAAGGAGTGGAAGAGAAAGTAAAGACGGAGGCAGAGAAGACATCAAAGCTGCTGCAGCATCACGGGGTCCTACAGCTAGAGAACTAAATAACTGGGTCAGCGATCTAATAGAAGAAAATATGCCCGAGACTAAACAAGGACGGAATCCACAAGTCACGAGAGCTAAATCAGTAAAAACACAAACAGACAAAACGTCCCCAAAAAATCCAGTTAAGTGGATTGTGCTTATTGCGAAAAACACACCTAAAACAAAGTGACCTTGAGTGAAAGGACAGACCAAGGCGGACAGCGGCTCTGCAGTGACCTCGAGTGAAAGGACAGACCAAGGCGGACAGCGGCTCTGCAGACGCTGCCACACCCCAGCAGGACCTGAGGCCCCGGTGGAACCCAGACTCCAGAAGCCTTGAGGCCCAGGTGTCCACAAGACAAAAGGAATCACTTTCTGAAGGAGCCGCTCCGTGGATGGGGATCTAAGTCCCATAGCTAAAGGCACACACATCCATGAGCTGCCAGTTCCAGGGGTGCAGGACGCCCCGATGGAGGTGGTGAGAGGAGGCACAGGCCCCTCCACGGGAGCATGGCCGGCCCAGGAGGCAAGACCAAGCAGAAAGGGTGGGGTGTCCTCTCCGTGGAATTTGCACAGCTGAGCATATCATAGGTCACAAAAAAACCTCAATAAGGTGTCCAAAATAAAAAGTGAAATCTCATCTTCTGAACACAAGTCAATAAAATGAAGGGGGAGGAGGGGGAGGGAAGCTGCGCCCCAGGGCTGTGAGCTCCGCCACCGCCTCCCCACCCTCCCTGCACGCCCCTGTCCGACCCTTCCTCGGCAGCCCGGCCCACCAGCCTGATCCGCTGCTCCTCCTCCAGGATGAAGAGGTTCTCCTTCTCGCAGTAGAAGGCGGCCGCATCCAGCAGAGCCTTCAGGGGCACCAGGCCCACCAGCTGTGAGCCCACCACTGGGAGGCTCAGCTCCTGCCAAGGCACAGGCAGCGTCACCCCCTGGGGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTTGCATTCCCCAGCTGGACGGGGAGGAGCCTGTGCCTGGGTGGGTGCTGTGGTTCTCCTCCGTCCCTCACTGAGCTGGCCGGGGAGGGCCAGAGAAACTTCGCTTGCCACAGGGAAACGGAGGCCCCAAGGGTCAGACACCGGAGGCCCACCCCGGCAGGCCCCCGCCCAGCCTAGGCCCTGCCTTCCAGCCACGCTGTGTCCTAGATGTTGGGGGAATGCTGAGGGGTGGGGCCCCAGGCACCCCCATGCCGTTCTCCCATCCCATCTGCTCCGCTCCCGACAAGTCCCCTCAGCCCCGCACTTGTCGGGGTGACTGAGTCCACGTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGACTCCGGAAGTCGCTGTTTCCCAGCAGTATGGAAATGCTGCCACATGTTAACAAAGGGAAGTCCTGCCTCGTTCCCTGGAAAATCCCCAGGAGGCCAGAGCTCCCCAGCTTCACTCCGCCCCTGACCTGCCGACCTGCGCGGTCCCCGCACGGTGTGGACGCGGAGGCTGGGCCGGTCTGCAGGTGGGAGGCCGAACCCTGTCCGGCCGGTGCCCCATCCCCACCGACCTCCCCGCCTGAGGCTCTCAGCCTCTAACCCTTTCCCGAGGGGCTGGGTGGGGCTCCATGGGGTCAGTGAACGGGGTCACCTGGTCCTTCCCGCGGCCCTGCTCCCGCAGGTTGAGCGCGATGCGGTGGGCTTGCTCCTTTGTGCCGAGCAGGTTGATGTTAAAAGCAATGAGGAACTTCCTCGCCCCCGTGGCCGTGGCCCCCCAACTGGGGACAAAGGAGCTGGGACCAAAGTCGGGCGCCCAGTCGGCCTGCTGGAGCTGTGAGCAAGTTCGCTCTGGGGTGAGACATCCCCCACGGGAGGGAACAGCCCCCCGGGGTCCCGGGAAGGAGGGGCCCGGCCCAGCCACCCCAGCCAGGACAAAGGGGCAGGTCCACCTCCTTCCCAGGCCCGACCGCCCGGGGTGGGGGCACCTTCTTAGGGAGGGCCTCGTACTCCCCGGCCCGGATGGCCGGCAGGGTCCGGCGACTGTCCATCCTGGCTGCCTCGCCGTACAGGTAAACTGCAGGAGAGCCCGGCGGTCAGGCCTGGACCGGCAGGGGGTCCAGGACTCAGTTCCTGGAGGACGCAGGTGGAGGGGCTCCCTCCAGCCTAACCCAGGAATGGGCCTCTACTGCACCCTCTCCTGGGGAGTGCCCGTTCTCCGCCTTGGATGGATGCGGGTGGTCCCAGTGGACCCTCAGTGTGGGCCAGCACCC 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GGCTCCTAAAACTCTGGAATTTCAGTAATAAACAGGTATTTACCTACTCAATACTTTAAACACCTTCAAGTACTCCCCACAACGTATTAATTGCAAAAGGAAAAATAGTAACATTGCAGTGAAGGGTCCAGGAGGAAGGGGGTCGCCTTGGCAAGTGACGGGTCCACGTCGGCACCCTGAGAAAATGAGCATCATGGGGAGTCGGCGTCTCTGAGGAGGACACAATACCATCTATGCTTTTCCTGCCAAAAATGCGTAACTGGCTGGGCGTGTTGGTGCACACCTGTCGTCCCAACACTTTTAGGAGGCTGACGTGAGTGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAATAGAGCAAAACCCCATCTGTACAAAATTAGCCAGGACTACATAGTGGTCCTTGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAAGATCACCTGAGCCCTGGAGTTTGGGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAGAAGTAACAAATTAAATTAAAATAAAAATGCACAACTACATCTGGCCACAAGCAACATCAGACTAGTCCCCACTGAGGCGCTTTTAAAAGTCTGTCCTTTGAAACTATGTCAAGGTCAATGAAGGACAAGGAAGACAGGAACAGTTGGAAGAAAGGAGAAAAGGTTGGCTCAGTGCTCTGTGTTACGTGAACTGGATCACGGATTGGAGGAGAAATCGCTATGATGGGAATCACTGGGACACTGAAGCAATTTGATTATGGCCTGAGGATTATTAGATACTAGGATTGTATCAGTGTTGAATTTCCTGATTTTGATAATTACACTGTGGTTATGTAAGAGAATGTCCCTGTTCTTAAGAAACACAGCCTTAATAAATTAGGGGTAAAAGAGTACAATGTCTTCAACCCAACTTTTAAATAGTCCGGAAAAAAATATAATATGATTATACACAAATAAATGGGGCAAAATGCAAGCACTTGGAAAATATGGGTGGGAGGCAGGAGTGGAGGGCCACCTGTATCTTCTCTGTAAGAAATTATACAAAATGTAAAGTCACAAAAAATTTTGTTAACAGCCAAGAATACAACAGACAAGGCCACAAACGCACCAATGATTGAGGCTGGGTTTTGGAAAACCACTGTGAATCCAGAGGAAAGGAGTGGAAGAGAAAGTAAAGACGGAGGCAGAGAAGACATCAAAGCTGCTGCAGCATCACGGGGTCCTACAGCTAGAGAACTAAATAACTGGGTCAGCGATCTAATAGAAGAAAATATGCCCGAGACTAAACAAGGACGGAATCCACAAGTCACGAGAGCTAAATCAGTAAAAACACAAACAGACAAAACGTCCCCAAAAAATCCAGTTAAGTGGATTGTGCTTATTGCGAAAAACACACCTAAAACAAAGTGACCTTGAGTGAAAGGACAGACCAAGGCGGACAGCGGCTCTGCAGTGACCTCGAGTGAAAGGACAGACCAAGGCGGACAGCGGCTCTGCAGACGCTGCCACACCCCAGCAGGACCTGAGGCCCCGGTGGAACCCAGACTCCAGAAGCCTTGAGGCCCAGGTGTCCACAAGACAAAAGGAATCACTTTCTGAAGGAGCCGCTCCGTGGATGGGGATCTAAGTCCCATAGCTAAAGGCACACACATCCATGAGCTGCCAGTTCCAGGGGTGCAGGACGCCCCGATGGAGGTGGTGAGAGGAGGCACAGGCCCCTCCACGGGAGCATGGCCGGCCCAGGAGGCAAGACCAAGCAGAAAGGGTGGGGTGTCCTCTCCGTGGAATTTGCACAGCTGAGCATATCATAGGTCACAAAAAAACCTCAATAAGGTGTCCAAAATAAAAAGTGAAATCTCATCTTCTGAACACAAGTCAATAAAATGAAGGGGGAGGAGGGGGAGGGAAGCTGCGCCCCAGGGCTGTGAGCTCCGCCACCGCCTCCCCACCCTCCCTGCACGCCCCTGTCCGACCCTTCCTCGGCAGCCCGGCCCACCAGCCTGATCGGCTGCTCCTCCTCCAGGATGAAGAGGTTCTCCTTCTCGCAGTAGAAGGCGGCCGCATCCAGCAGAGCCTTCAGGGGCACCAGGCCCACCAGCTGTGAGCCCACCACTGGGAGGCTCAGCTCCTGCCAAGGCACAGGCAGCGTCACCCCCTGGGGGCTGGCTGGAGAATGGCCCTGGCTGGAGGATGTGGGGCCCCCGCCCTGCCCACGGGACAGATCGGCTCGCCCCTCACAGCAGCAGCGGCTGCTCCCGGGCTCACCTGTGCTTCTCGGCAGGTCTCCTCGTAGACCGTGTGCAGTGCCGTGACCTCAAAGTCCAGAAGATTGGTGGACACCTGAGCCAGGTTCTTCTCATCCAGGTACCAGCCAATGCCCTGAACTTTCTTCAGACGTCCTGGCTGCAAAGGAAGAGCGTTCCCCAGCCTGGACTAGGAAGCTCATCCTGCCTGGCCCTGCCAGTCTCTCCTGGCACTTGCATTCCCCAGCTGGACGGGGAGGAGCCTGTGCCTGGGTGGGTGCTGTGGTTCTCCTCCGTCCCTCACTGAGCTGGCCGGGGAGGGCCAGAGAAACTTCGCTTGCCACAGGGAAACGGAGGCCCCAAGGGTCAGACACCGGAGGCCCACCCCGGCAGGCCCCCGCCCAGCCTAGGCCCTGCCTTCCAGCCACGCTGTGTCCTAGATGTTGGGGGAATGCTGAGGGGTGGGGCCCCAGGCACCCCCATGCCGTTCTCCCATCCCATCTGCTCCGCTCCCGACAAGTCCCCTCAGCCCCGCACTTGTCGGGGTGACTGAGTCCACGTGGGGGGACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGACTCCGGAAGTCGCTGTTTCCCAGCAGTATGGAAATGCTGCCACATGTTAACAAAGGGAAGTCCTGCCTCGTTCCCTGGAAAATCCCCAGGAGGCCAGAGCTCCCCAGCTTCACTCCGCCCCTGACCTGCCGACCTGCGCGGTCCCCGCACGGTGTGGACGCGGAGGCTGGGCCGGTCTGCAGGTGGGAGGCCGAACCCTGTCCGGCCGGTGCCCCATCCCCACCGACCTCCCCGCCTGAGGCTCTCAGCCTCTAACCCTTTCCCGAGGGGCTGGGTGGGGCTCCATGGGGTCAGTGAACGGGGTCACCTGGTCCTTCCCGCGGCCCTGCTCCCGCAGGTTGAGCGCGATGCGGTGGGCTTGCTCCTTTGTGCCGAGCAGGTTGATGTTAAAAGCAATGAGGAACTTCCTCGCCCCCGTGGCCGTGGCCCCCCAACTGGGGACAAAGGAGCTGGGACCAAAGTCGGGCGCCCAGTCGGCCTGCTGGAGCTGTGAGCAAGTTCGCTCTGGGGTGAGACATCCCCCACGGGAGGGAACAGCCCCCCGGGGTCCCGGGAAGGAGGGGCCCGGCCCAGCCACCCCAGCCAGGACAAAGGGGCAGGTCCACCTCCTTCCCAGGCCCGACCGCCCGGGGTGGGGGCACCTTCTTAGGGAGGGCCTCGTACTCCCCGGCCCGGATGGCCGGCAGGGTCCGGCGACTGTCCATCCTGGCTGCCTCGCCGTACAGGTAAACTGCAGGAGAGCCCGGCGGTCAGGCCTGGACCGGCAGGGGGTCCAGGACTCAGTTCCTGGAGGACGCAGGTGGAGGGGCTCCCTCCAGCCTAACCCAGGAATGGGCCTCTACTGCACCCTCTCCTGGGGAGTGCCCGTTCTCCGCCTTGGATGGATGCGGGTGGTCCCAGTGGACCCTCAGTGTGGGCCAGCACCC 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Task1_train_28539 | This variant affects the gene LSS (lanosterol synthase) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alopecia-intellectual disability syndrome 4 | AATGTCTGTTTATTAAGGCAGATGCTCATAAAAGTGACTTTCAGTAACATTTTCAGTATAAAAATGGATTTACATTTCATTTCTGGAAAACCGTTTTGTACAGTCTGACCATGGCTAGGAGTCCCAGGGACAGCAGCCTCTGCTCAGGGCAGACTCTGTGATTCACTGTCTGTCCTGCTGCTACCCCACGTGGGGGAGAACACGTGGGCTGAGAAAAAAAAACAGCATGTGCAAACCTGACAGATGTCAAGGGTCCCAACACAGTTCCTTCAGCGAAAATAAAGCCCAGTTTTAAGATGTGCAGGGAAGTGTTGACACTGAACAGGCAGCTGACCAAGCCCTGCAGGGCTCTGAGCAGGCAGGCGAGTCCCAAGGAGAGTCAGTGACAGCACATGGGGCAAGGGAGCTGGACAGAAGACCCCAGAGGGTGCGGCACCTGGGTGAGAGCCCTGGACTGCACACCAAGGCAGAGGGGTGCCCCTGAAGGACTCTGGGCAGGCAATGACAGGATCTGAGGGTGTCCAGACGCAGATCTCCACTGCCTGAGGGAGAGTGATCAGCCAGGGGGAGAGGCCAGGGACTGCTACCTGCCCAGAAGGCGGCAGGGAGGGGAAGAGCAGATAAGGAGGTATAGGGTGTGCCCTGGGCAAGGCAGCAGGGGTAACGAAGCTCTCAGTGACTCCTCCCAGTAGCCAGGGGAGAGCAGTGACAGTCTCAGGTGGCCCTGAGCATGTGAGCTGCTCATCCACATCAGGCAAAGGCAAAGCCAGGACCTGAACTTCCCACCCCAAGCCCTACATCCATGCAAGCCAGACCAGACTGGGTCAGAGGCTAGAAGGGAGCTCACAGGATTGCCTGGGGAAGCCTCGGCCCAAAACCTGGCCCTCGCTCCAGCCCAGAGCACCCACCTGGGCATGAGACTGGCGGCAGCCGTAGGGGTGCCCTGGGTATATGCCGGGCTCCCAGGGTGCCATACCTGCCAGCCAGCCCAGGGAGTGGTGATGGGCTGGGTGCTGGCTGTCCCTGCACATAGCAGTGCCCCGCGGCAGTAACTACAACTGCTGCCTGCCCCTCACCCCTGGTTATGCTCGGCCTCCCCTGTGCATTTCTGTGTCCGTAAGTGTCCCCTGTGCATTTCTGTGTCCACAAGACTACTATAAACCCTGTAGACACCTCACAAACAGCATTCCACGCAGGTGGGTTCATGTCCCAGGGGCATGGGGCTCCCTGCTGCACAGACTTGGGATGTTCCATGACAGACCCTGCATATGCAGGCGAGCTCACAACCCAGGGGTATGCGGCTCCATGACACCACCCCATACTCAGGCGAGCTCACGACCCAGGGGCATGAGGCTCCATGACACCACCCCATACGCAGGCAAGCTCACGACCCAGGGGCATGGGGCTCCCTGCTGCACGGCCTCAGGATGCTCCATGAGCAACCCCCGCACTGGGCTATTCACGGATGCACACTACCTGCCATTGTCACAGGGTTGCCCTCGTGTCCCTCAGCCCAGCAGACAAAAGGTGCAGGAGAAGCCTGCCCAGGGCCGACCCCAGCCCAGAGCCCACTCGACACTAAGGAATCACACAGGCACAGCTGCTCCTCTCCCAAGAACTCAGCTATTGGTCAGAAAAAACCTCCTAGCCTCACTACCTTGAGGCCGTGCCCAGAGGTGGCAGAAGGCGCTGTGCCTCCTCAGGGGTCACGGCTCCTGTGCCCCCTTCCTCACCCAAGCCCGACAAGCTACTTTCAGAAATGAACCTACAGTAAAAATCAAGAGTCTAAGCCACCCACCCTGTCCCCATCCCTGCCTCCAGCCTGGCCCCCAGATTCACATCTATGAGATAGAGGTTGAGGGGTTGGAGCCCAAGACAGGGTTATGGGAGGGCTCCCCAACCCGGCCAGGACCCCTTGGCCTCACTGGAACGCACAGACGGCACCCAGCAGGTAGGCATGTTCTCAGGGGTGGCCAGCAAGGGCTCTCTCAGGGTACAGCTGGGAGAAGCGGCCGAGGGCCCAGATGGGGAAGATGTTCCTGTAGCTCGTGTAGGAGATGGCACAGGACTTGTTGAAGACCCCAGCAATGTTTTCCTAAAAGAACACAGAGAAATAAACACAAAGGCTTCACCAGTCAGCTGAGGGCTAGTCCCTGAACTGGAGCCCTGGCTGTTGGCTTGGCTGGCTTGTGGGTGAGTCAGCCTGGAAAGGGCTAATTAAGCAAGAGCATAGGAAAGCAAGTAGTCCATCCCGCATCAGTCATGGCACCATCAGCCCAGCTCAGACTCCCCGCCCTGCAGCAAACCCTAAGCCAGGGTCACCAGCCCCTCACAACCACATCAGCTTCCACCAACTCAGCCTCATCCCAGGGGAGGGCGGTTGGCCTCACATGACCTCATGACACCCACACCACAGGGACTTCTGGCTCAGTGAGGGGCCACTAGGTCATCTGGAGTGGGAGGGTCTGTCCTGCAGCAAAAAGGCTTCCCGCCCACTGGCTTCTCCCATCCAGCTCCTCCCCCACCCAGAGCATCACTTGAAACAACAGCAAGATCTGGACTTTAGGACCCGACCACCTGCCACAGACCTGCCACCAACTGTGGCATTCACTGGCAGAGGTGACGCCTCCCAAGTGTCCAAAGTACCCCAAAAAGGACACAGAGCAGGGGGACGTGGAAACAGCCATGCACGCTGGAGGTCAGTGCTGGGCCTTGTGCGCTCAGGTCCCTGGCGGCATACCTGCGGCCAGTCGCCATTGGGGAGCTGTTTCTCAAGTAGACACCGGACTCCTCTCTCCTGGGCCTCGATGTCAGGATGCCTGGTGGAAGAGAAGGCTGAAACACACCCAGCATGCATGCCCCCACAGCATCATCCTCACCCTCACACAGCCGAGCATAAGGGCAAACCCTGGAATGCTGCAGTGAGAATGGATGGGTCTAAACTGACGCCCACAGGCCCCGCCAGGTGCAGCCAGCGCCTCGGGCTCTTGCCACACCTTCTTCCTAGGCTCCCTGAGAAGCGGAGCCACAGCAATGACAGGCTGGGGACACAGGCCTCCTCAGGCCTGCCCTGGTGTTCCCCCCTGAAGAGGACGCCAAGCCTTGTTCCCAACTGGCCCACTGGTCCTCATGGGCCTCTGGAGACCCACAGGAGCTCACACTTGCTTGCTGGCCAGGATAAGACACCAAGAAGGATCCAGGGCTCAGCGGGCCCAGCTCAACTGTGGGTCCCTGACTGTCCTGCCCTCAGGGGTCCCCCAGACCCTGCTGCTCCTGCTCAAGCAGACCTGCCCTAGCTTTTAGGGTTTTAGGAAGATTCCCCAAATGGCCACAAACCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTG 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AATGTCTGTTTATTAAGGCAGATGCTCATAAAAGTGACTTTCAGTAACATTTTCAGTATAAAAATGGATTTACATTTCATTTCTGGAAAACCGTTTTGTACAGTCTGACCATGGCTAGGAGTCCCAGGGACAGCAGCCTCTGCTCAGGGCAGACTCTGTGATTCACTGTCTGTCCTGCTGCTACCCCACGTGGGGGAGAACACGTGGGCTGAGAAAAAAAAACAGCATGTGCAAACCTGACAGATGTCAAGGGTCCCAACACAGTTCCTTCAGCGAAAATAAAGCCCAGTTTTAAGATGTGCAGGGAAGTGTTGACACTGAACAGGCAGCTGACCAAGCCCTGCAGGGCTCTGAGCAGGCAGGCGAGTCCCAAGGAGAGTCAGTGACAGCACATGGGGCAAGGGAGCTGGACAGAAGACCCCAGAGGGTGCGGCACCTGGGTGAGAGCCCTGGACTGCACACCAAGGCAGAGGGGTGCCCCTGAAGGACTCTGGGCAGGCAATGACAGGATCTGAGGGTGTCCAGACGCAGATCTCCACTGCCTGAGGGAGAGTGATCAGCCAGGGGGAGAGGCCAGGGACTGCTACCTGCCCAGAAGGCGGCAGGGAGGGGAAGAGCAGATAAGGAGGTATAGGGTGTGCCCTGGGCAAGGCAGCAGGGGTAACGAAGCTCTCAGTGACTCCTCCCAGTAGCCAGGGGAGAGCAGTGACAGTCTCAGGTGGCCCTGAGCATGTGAGCTGCTCATCCACATCAGGCAAAGGCAAAGCCAGGACCTGAACTTCCCACCCCAAGCCCTACATCCATGCAAGCCAGACCAGACTGGGTCAGAGGCTAGAAGGGAGCTCACAGGATTGCCTGGGGAAGCCTCGGCCCAAAACCTGGCCCTCGCTCCAGCCCAGAGCACCCACCTGGGCATGAGACTGGCGGCAGCCGTAGGGGTGCCCTGGGTATATGCCGGGCTCCCAGGGTGCCATACCTGCCAGCCAGCCCAGGGAGTGGTGATGGGCTGGGTGCTGGCTGTCCCTGCACATAGCAGTGCCCCGCGGCAGTAACTACAACTGCTGCCTGCCCCTCACCCCTGGTTATGCTCGGCCTCCCCTGTGCATTTCTGTGTCCGTAAGTGTCCCCTGTGCATTTCTGTGTCCACAAGACTACTATAAACCCTGTAGACACCTCACAAACAGCATTCCACGCAGGTGGGTTCATGTCCCAGGGGCATGGGGCTCCCTGCTGCACAGACTTGGGATGTTCCATGACAGACCCTGCATATGCAGGCGAGCTCACAACCCAGGGGTATGCGGCTCCATGACACCACCCCATACTCAGGCGAGCTCACGACCCAGGGGCATGAGGCTCCATGACACCACCCCATACGCAGGCAAGCTCACGACCCAGGGGCATGGGGCTCCCTGCTGCACGGCCTCAGGATGCTCCATGAGCAACCCCCGCACTGGGCTATTCACGGATGCACACTACCTGCCATTGTCACAGGGTTGCCCTCGTGTCCCTCAGCCCAGCAGACAAAAGGTGCAGGAGAAGCCTGCCCAGGGCCGACCCCAGCCCAGAGCCCACTCGACACTAAGGAATCACACAGGCACAGCTGCTCCTCTCCCAAGAACTCAGCTATTGGTCAGAAAAAACCTCCTAGCCTCACTACCTTGAGGCCGTGCCCAGAGGTGGCAGAAGGCGCTGTGCCTCCTCAGGGGTCACGGCTCCTGTGCCCCCTTCCTCACCCAAGCCCGACAAGCTACTTTCAGAAATGAACCTACAGTAAAAATCAAGAGTCTAAGCCACCCACCCTGTCCCCATCCCTGCCTCCAGCCTGGCCCCCAGATTCACATCTATGAGATAGAGGTTGAGGGGTTGGAGCCCAAGACAGGGTTATGGGAGGGCTCCCCAACCCGGCCAGGACCCCTTGGCCTCACTGGAACGCACAGACGGCACCCAGCAGGTAGGCATGTTCTCAGGGGTGGCCAGCAAGGGCTCTCTCAGGGTACAGCTGGGAGAAGCGGCCGAGGGCCCAGATGGGGAAGATGTTCCTGTAGCTCTTGTAGGAGATGGCACAGGACTTGTTGAAGACCCCAGCAATGTTTTCCTAAAAGAACACAGAGAAATAAACACAAAGGCTTCACCAGTCAGCTGAGGGCTAGTCCCTGAACTGGAGCCCTGGCTGTTGGCTTGGCTGGCTTGTGGGTGAGTCAGCCTGGAAAGGGCTAATTAAGCAAGAGCATAGGAAAGCAAGTAGTCCATCCCGCATCAGTCATGGCACCATCAGCCCAGCTCAGACTCCCCGCCCTGCAGCAAACCCTAAGCCAGGGTCACCAGCCCCTCACAACCACATCAGCTTCCACCAACTCAGCCTCATCCCAGGGGAGGGCGGTTGGCCTCACATGACCTCATGACACCCACACCACAGGGACTTCTGGCTCAGTGAGGGGCCACTAGGTCATCTGGAGTGGGAGGGTCTGTCCTGCAGCAAAAAGGCTTCCCGCCCACTGGCTTCTCCCATCCAGCTCCTCCCCCACCCAGAGCATCACTTGAAACAACAGCAAGATCTGGACTTTAGGACCCGACCACCTGCCACAGACCTGCCACCAACTGTGGCATTCACTGGCAGAGGTGACGCCTCCCAAGTGTCCAAAGTACCCCAAAAAGGACACAGAGCAGGGGGACGTGGAAACAGCCATGCACGCTGGAGGTCAGTGCTGGGCCTTGTGCGCTCAGGTCCCTGGCGGCATACCTGCGGCCAGTCGCCATTGGGGAGCTGTTTCTCAAGTAGACACCGGACTCCTCTCTCCTGGGCCTCGATGTCAGGATGCCTGGTGGAAGAGAAGGCTGAAACACACCCAGCATGCATGCCCCCACAGCATCATCCTCACCCTCACACAGCCGAGCATAAGGGCAAACCCTGGAATGCTGCAGTGAGAATGGATGGGTCTAAACTGACGCCCACAGGCCCCGCCAGGTGCAGCCAGCGCCTCGGGCTCTTGCCACACCTTCTTCCTAGGCTCCCTGAGAAGCGGAGCCACAGCAATGACAGGCTGGGGACACAGGCCTCCTCAGGCCTGCCCTGGTGTTCCCCCCTGAAGAGGACGCCAAGCCTTGTTCCCAACTGGCCCACTGGTCCTCATGGGCCTCTGGAGACCCACAGGAGCTCACACTTGCTTGCTGGCCAGGATAAGACACCAAGAAGGATCCAGGGCTCAGCGGGCCCAGCTCAACTGTGGGTCCCTGACTGTCCTGCCCTCAGGGGTCCCCCAGACCCTGCTGCTCCTGCTCAAGCAGACCTGCCCTAGCTTTTAGGGTTTTAGGAAGATTCCCCAAATGGCCACAAACCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTG 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Task1_train_28540 | The gene LSS (lanosterol synthase), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alopecia-intellectual disability syndrome 4 | CCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTGCCTGTGCATGCGTATGTGTGTGCACAGACCTGTGTGTGCATGTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGCATGCTGTGGGTGTATCTGCATGTGTGTACACACGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACATGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGTATGCTGTGGGTGTATCTGCGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATGTGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCCCAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCAGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCA 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CCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTGCCTGTGCATGCGTATGTGTGTGCACAGACCTGTGTGTGCATGTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGCATGCTGTGGGTGTATCTGCATGTGTGTACACACGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACATGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGTATGCTGTGGGTGTATCTGCGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATATGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCCCAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCAGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCA 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Task1_train_28541 | Given this context: Chromosome 21, gene LSS (lanosterol synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cataract 44 | ATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTGCCTGTGCATGCGTATGTGTGTGCACAGACCTGTGTGTGCATGTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGCATGCTGTGGGTGTATCTGCATGTGTGTACACACGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACATGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGTATGCTGTGGGTGTATCTGCGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATGTGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCCCAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCAGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCAAACCCAACAAAGTGAACTAAATAAAAACAGGAAAAAATCAATTAGAGAGAAAACAATAGATTTAGAAG 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ATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGTGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCATAGACCTGTGTGTGCATCTGTCTTCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACATAGGTGCCTGTGCATGCGTATGTGTGTGCACAGACCTGTGTGTGCATGTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGCATGCTGTGGGTGTATCTGCATGTGTGTACACACGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACATGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGTCACAGATGGTATGCTGTGGGTGTATCTGCGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCGTATGTGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCTGTGTGTGGCACAGATGGGATGCTGTGGGTGTATCTGCATGTGTGTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATGTGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCACAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCAGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCAAACCCAACAAAGTGAACTAAATAAAAACAGGAAAAAATCAATTAGAGAGAAAACAATAGATTTAGAAG 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Task1_train_28542 | This mutation is located in gene LSS (lanosterol synthase) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cataract 44 | GTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATGTGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCCCAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCAGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCAAACCCAACAAAGTGAACTAAATAAAAACAGGAAAAAATCAATTAGAGAGAAAACAATAGATTTAGAAGACAAGACCCATCCTACATCTAACTGATATTTCCAAAAAATAACCAGTTCTCTGAAAAGGCCAGAGCGAAGTGTCTACTCCAGTGTCACCCTGTGGGACGTGGGACTTGTCTTTAACCAGCAGATCACGGCAGGGTTGATGGGTGCGGGTCCTGGGACCGAGGTCTGTGTGACCGCGACTCCCATGGTGCTAGCAGACTCCCTCTACCAACTCTCCCTTCTCGCTTTTGTGAAGATGCCATCTAGAGAGGCCCCGCAGCAGACGGTAGTCGGCAGCTTCCAGCTGAGGAATGGGATCGTGCCGAGGACCCTGTGTGCTCAGAGGCAGATCCTTCCTCACTGGAAGCTCAGGCGAGACCCCGGTCCTGGCTAACACCCTGACTGAAGCCCGGAGAGACCCTGAGGCAGAGGACGACCTGCGAGGCCGCGCCTGGACTTCTGACACACAGAAACGGTGAAGTAATCAATGTGTGTTGTTCTAAGCCACTAGGTTTGTACTAATATTGTTACTCGGCAACAGGTAACAAATACAAATAGTCAAAGTACAAATTAGTAATATTAGCAATAAAAAGATAGAACTACAGATATGGTGAGAAATGACAAGAAAGTTTTATGTATTACATTTGCAAACTTAGAGAAAATATCTACAAATTAGAAAGATTAACTTATCAAAACTGGCTCAATCAAGAAATAGAGAACCTAAACAGTCCTAAAACTACTAAAAAAATGAGTCAAAATGTAAACTTTTCCCAGAAAAAAAACTCTAGGCCTAGGAATTTTATAAATGAATGCAACTAAATTATCAGACACACTCATTCTAATCTCACACAAACTCTTCCAGAGAACAGAAAGGAGGAACACTCTCTAGCTCATTCTAGGAACCCAGAGAAATAAGATATGGAAAAGTGAAAATTTCAGGCTCACTCATGAACACAGATGCAAAACTCCAAATTAAAACTGAGAAACTGCTGCCGGGCGCAGTGGCTCACGCCTTGTAATCCCAGCACTTTGGGAGATCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGATGACAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG 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GTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGTGTGCACATCAGTGTGTACACTGATGCCTGCCTGCATGCGTCTGCGTGTGTGTGCACCTGGCACATATGTGGCTCAGCACCAGCTGTGAACACAGTAGGGCCACAGAGAGCAGCTGCTGTGACCGTCATCACTACCACACCAGGAAGCAGCATCCTCATCGCAGCCCACCTCGCTGTTTCCATGGGTCCCTGATGTGCTTGCTCTTCCACTGACATGGCTAATGGTGGGTGGTTCACTTCTAAGAGGCGAGCCTCTCTGCAGGGCCCCACTTGGTCAGAGCAGCCCACGTTCTTGCCCCAGGAACCAGGCATGTGGCTCTTGTAGGTGTCTGTTCCCAGAGTGGCAGCTGACCTGGCCCACAGGCCTCCCCTCCTCTCTACATTCACTCAGCCCAGGCCACCGGCTCACAGCTGAGTGTCCCTCCTCTACCCAAACCCAAGGCTCAGGGACGGTCCCGTCGTCCCCACCGAACGGCCATCAGCCCCATCATGGCCCAGCATGTGTTATGGATCTGGGACTGGGCACTCTGCAAATAACGCCGCTCCTCGCAGGACTCAAAGTCCTCCCCCCAGCCTCCGTCTGCCATCTGCCGGGACAGCAGGAAGTCACAGGCCCGGGAGACCTCTGCACAGGCAGTCCTGCAAAGACCAGAGACAGGAGACACCATCACACCAAGGAAGGTCCCAGACCCCTGGCTTCTCACCCCAGCAGGCTGCCTTGGGGTACGGGGAGGAGCCTGCACGATGGGGCCACCCTACCTAAGGGCCATGGGCCACTACTGAAACCCGAGCTTGACTTTTGCAGATGTGAACTGGGAACAGATACTCCTGCCTCCCAGAGTCGCTGGGAAGACAAAGGGACATGCGAGTACCGAGGATGGCCTCACGGACGCGTCAGGCTGAGTGAGGTCTGCAGTGCTTGGGAGCAGCGTCTCACAAGCTGCACTCAGCCAAGCACGGTGCTCCCCACCTCTAAACATCCACACGGCAGACTCTGGGAGACAGTGGGGCAGCTGGAGACAGGGCTGGGAGAGAGTCCGGCGGCTGGAGACACGGCTGGGACCGGAGATCTCCTGCCTTCTAACCCGCTCCAGCGAGGCCGTGGACCCTAATCTTCCTACTCAGGGTTGGGAGGCATCTGTATGCCTGGAGGGGCCGGAGACCAGAAGCGTCCCTCCAGCATACATGTCAGGAAGCTCCAGAGAGCTGTGGGACCAGGGAAACATCTTCATTTCAACCGGGGATCTTATCTCACTGTTTAAAAATATTAAAAACAGGCCAGGCACATTGGCTCATGCCTGTAACCCCAGCACTTTGGAAGGCCGAGGTAGGAAGACTGCTTGAGCCCAAACCAGTGTGAGCAACACAGCAAGACTCCATCTCTACATAAAAGTTTTAAAAGATTAGCCCGGGGTGGTGGCGTGCACCTGTGATCCCAGCTACTCGGGAGGATCGCTTGAGCCCACGAGTTTGAGACTGCAGTGAGCTAGGATCATGCCACTGCATGTCAGCCCGGTTGACAGAGCGAGACTCCGTCTCAAAAACAAACAAACAAACAAACAAACCCTAAAACCAAATGTCAAAGCAAAAAACACTCATGACAGAGCATTGGGTTGAGAACCCCCACCCACCAGAGGACAGGCACTCACTCACCCATCTCGGTAGGTCTGCCCCATACAGGCGAAGGCCTCCAGGCCAAACCAGGTGCCGTAGGTGAAGCAAACTCCCCGGGAGCTGGAGGGAAACAGGGAGAGCCTCAGCCCTTCCACCCTGTTCACAGCCGGTGTGTGAAACAACACGCATTCTGCAACAATCACACGTGCCCCAGCCAGCCCACCAACTCCAGTGCCTCAGGCATTAAGGCCGTGGAAGACAGCAGCTCTGTCTGCTGGACCCTAAGAGCAAGCAGAAAGGGTGGAGGGAATAGCCACGCTCAGGCTACAGCGCGCTCCCAGCAGCCCGGCTGCGCCCAGCAACGTACTGAGCAATTTCCACCGGGGCAAAGGCCACGCATGCCACAAAGGAACGAGGTCCCCCAGAAGTCACGGGCTGGCAGCTCACTTCCAGAAACTTCTGGTGTAGCAACAACATACAAGCCAACATTTATGAACGCAGTGTGTGAGAGCAGAAACCTGTGGATCCCGTGCATCTCTGCACTCACGAGTGGAGGCTCACTCACCCTTCCCAGGAGCCATCGGCCCTCTGCTGCCGCCGACAGAACTCTAAGCCCTGCGTGAGGGTCTCCCTGGAACACGAGATTGGTCCAGTGAACATTCTGGTAAAACAGCAGTTTACCTATCCCAATTCCATCCTTTCCAGGGTCTCAAAAGAATGAGAATGGTCTCCCTTAAAAACCACATAAAAATAAACAGTTTACACAGACCGATGAGGGTTTTAAAAAGAAGCAACCACAGGACACCAGAGCGGGAAGCGGATTGGCAGAGTCTGAGAAAGGGACGTGAGGGGAAAGCAAGGCCTTGGGAAGCCCCTGCAGACACAGCTGCAAACAGGAGCAGCATCCCTGAGATCCAGTGACCCAGGCTTGAGCAAACCCAACAAAGTGAACTAAATAAAAACAGGAAAAAATCAATTAGAGAGAAAACAATAGATTTAGAAGACAAGACCCATCCTACATCTAACTGATATTTCCAAAAAATAACCAGTTCTCTGAAAAGGCCAGAGCGAAGTGTCTACTCCAGTGTCACCCTGTGGGACGTGGGACTTGTCTTTAACCAGCAGATCACGGCAGGGTTGATGGGTGCGGGTCCTGGGACCGAGGTCTGTGTGACCGCGACTCCCATGGTGCTAGCAGACTCCCTCTACCAACTCTCCCTTCTCGCTTTTGTGAAGATGCCATCTAGAGAGGCCCCGCAGCAGACGGTAGTCGGCAGCTTCCAGCTGAGGAATGGGATCGTGCCGAGGACCCTGTGTGCTCAGAGGCAGATCCTTCCTCACTGGAAGCTCAGGCGAGACCCCGGTCCTGGCTAACACCCTGACTGAAGCCCGGAGAGACCCTGAGGCAGAGGACGACCTGCGAGGCCGCGCCTGGACTTCTGACACACAGAAACGGTGAAGTAATCAATGTGTGTTGTTCTAAGCCACTAGGTTTGTACTAATATTGTTACTCGGCAACAGGTAACAAATACAAATAGTCAAAGTACAAATTAGTAATATTAGCAATAAAAAGATAGAACTACAGATATGGTGAGAAATGACAAGAAAGTTTTATGTATTACATTTGCAAACTTAGAGAAAATATCTACAAATTAGAAAGATTAACTTATCAAAACTGGCTCAATCAAGAAATAGAGAACCTAAACAGTCCTAAAACTACTAAAAAAATGAGTCAAAATGTAAACTTTTCCCAGAAAAAAAACTCTAGGCCTAGGAATTTTATAAATGAATGCAACTAAATTATCAGACACACTCATTCTAATCTCACACAAACTCTTCCAGAGAACAGAAAGGAGGAACACTCTCTAGCTCATTCTAGGAACCCAGAGAAATAAGATATGGAAAAGTGAAAATTTCAGGCTCACTCATGAACACAGATGCAAAACTCCAAATTAAAACTGAGAAACTGCTGCCGGGCGCAGTGGCTCACGCCTTGTAATCCCAGCACTTTGGGAGATCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGATGACAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG |
Task1_train_28543 | This gene mutation involves LSS (lanosterol synthase) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypotrichosis 14 | ACCTCAGCTTCTGGCTGCCTCTCTCACCTCAGTGAGAAGGGAAGAGGCCTGGAGTGCCGTAGGGTTCAGTCAGCCTCCCCAAGTCCCCATCACCCAGAGCAAGTCCTGGGCAGGAGGCAGGAGCAGGAGCAGGCCACCATTGGGCCAGGCACAGCAGGACAATGCCCCTCCTCTGCTTGAGCCCAAGATGGGTGCCAGCCTTGGCCACACAGAGGCCAGGAAGACCCAGAAGCCCTGCAGAACAATGTCCTAGTGAGAGCTGAAGGGAGGGAGACGGGGCTGGGGGGCAGCGGTTCCAGGCAGAGGGACACTGGCTGAGGCCGTGGCCGGGACAGGGTGTGGGAGACACGGGAGGTTGGGGCGCATGTATGGGATGACTGTGGCTGCAGACTGGGGTGCAGGCACGTGTGAGAGACACTGAGGTCAAACTATGGGCTCGGGCAGGGTCTGTGGGCAGCTGATCTGGCAGGAGGGACCGGGGCTTTTGCTGCAAACAGTCTCAGGAGGGCAAGTCCACAGGCTGGCGTCACCTCCATGGGCAGAAGGTGCTTCAGAGACATGGAGGTGCCGTGTAGGCTGTGCAGCTCAGGGTACACAGCCCCTGCCCGTGCCTGGCCCTTGCACACAGTGGCTCCAACATGAGCAGGACGCAGAAACTGCCAGCACCCCCAGCACCCTGCAGGCCTCAGAGAGCTGCCCCAGGTGAGGCCAGCCCGAGGAGGACCGGTGGATGGAGCAGGGGCTAGGGAGGGGATGGGAGGGTGGGGGTGACCTGAAACACCAGTGCAGGAAATAGGGCAGGGTGGAGGTGAGGTGGGCACTTCTGCCTGCAGGAGCTCCCAGCCCTGATCCCCCTCTTCAGCCCCCTCAGAGCCCCAGGCACCGGCCTCACCTGTGAGAGCCTCAGGAACTCATGAGCCTTCTGCAGGCAGGACGAAAACTCGGGCCTGTGGTGCCCGCCCGCCTGGAAGAGACAGCAGGACAGAGAGGCTCAGCTGCCCTTGCACGGCCAGCATGGCTGCGCTGGTTTCCCGATGGTCCTGGCCACATCCTGCCCCAACCGGGGACCAGAATCAAACCAGCAGACATCTCCAGAGAGTGCCAGGGTCTCCTGCTGCACTTACCTTTAAAGACAAAACAGCAAAAGTCCATGAGATATGACTGAAGATGGAAGGGCGCAGGAGACCATTTATGGATGCCAGCACCCCCCTGCCTGGCCAGCATCCATGCCCAGAGGGTCTCCAGCACCCTGTGTAGGCAGGCCCTTTGCGTGGCCCAGCCCTCAGGGCTCTCCAGAAACACCTTCAGAATCCCACCTACCTCATTCCCACCGGCATAAAAATCCACTCTCGTTTTTCTCCAGTACTGGCTCGAGAATGCCCATAACAAACAGTTCCAGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCGCTGCACCCTCCACTTCCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTTGGCTAATTTTTGTGTACTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCCAAGCAGTTCCAGTTCTAAGAAGAGCCTGGAGTCCCACTCCTGCCTGCACTCTCAGAAACAGCCTTCACCAGACTCCCCTTCTCACACAGCCTCCAGCCCCTGCCCTCCCAAGGCCCCCGACCCAGCCCAACACCCAAGGCTGCTGGCCAAGGCCGCCCCCTCCACAGCACGACCCTCTGAAGCCAGAGGCCAGAGCCCAGGTCACTGGAAGTATCGAGGAGTGGCAAGTGTGTGGCCAGCAGTGCTGCCCTCAGGTGGATGCGTGGGCTCACGTGCACAGGAAGGTCAGCTGAGGCTGAGAAAAGAGAAGGAGCCACGAACCTCAAGCAGAGCCTGGATGGCGAATGCGGTGTCCCAGATCTGTGAGCCGTTGGTGCCCTACACACAAAGGATGGTGTTACAGCAGCAGATGCAGCCCCTCCCACTCCCAGCCACTGCCTCCAGGATCCAATGGGCGCCTGAGGGCCAGGTGTGGGGGCTCCCACCCAGCCAACGCTCAGCCTCAGGCTCTGAGCCCTGGGCACCCCTCATGGCTGACAAGGGCCTCAGAGAAGGCTGAGCCCTGCAGGCAGACACACGTCGGGGAGACTCAGGGAGCCCTCCCTTTCTTCATGGGCCACCAGGCAGGACAGTGTCCCTCTGAGGACACTTCTAGGACTGGACGATCCCTTAGAGGCTCCAGCACCTACACATAGAGCATCCAGCTGCTCTCACCCAATGACAGTGGCGCACCTCAGTCATGGTGATGCCTGGAAATGACCCCATTTCTTTTTTTTTTGAGATGAAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCGCTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCTCCTGCCAGCACACCCAGCTAATTTTTTTTGTATTTTTTAGTAGCATCGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGTAGGGATTACAGGCGTGAGCCACCGCACCTGGCCAATGATCCCCATTTCTGAGTACACCTGGAGGTGATGGGAATTCTGCACAGGGCTGGGAAGGCTCCACCTCAAATCTCACCCCGAGCTGGGCTCACAGGTACACAGCCTGGTCTCAGTTCAAAGGGCCGGTGACCAAACCCTAGTGAGACAGAGCTGGGCACTGACCAGACAGACATGGGGACTGGGCAGGGGGTGGTGTGTGGCAGAGGCATCCAGACATCGTGCACTGGAGGGACAAGGCAGGGACCACCAGAAAAGCATTCTCGCCAAAGAAACACAATGGGATCGAGCCTCAGGGCCTGGCCAGTTTACAAAAACTCAGGGAACATAAGAAGCAACCAGTCAGATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCCAGGGCCTGCTCTAGGGCTTGCTACTCACCTCCACTTTACATGTGTTTTGAAAACCTTTTCACAAAACACGGACAGTGTCCGGGGAGCCTCTGGGGAGCTCAAGGCCAGCTGGGTAAAAGCTCGTGGCTGGGGGCACCTGGCACCAAGGGTAGCCCTGGGGCGGGCAGTGCTGGGCCCACGTGTATCCATCCCAAATGTGACACCCAGGACACCTCTGGAGACTCCACATTTCCACACTGAATCAGGTGGGGGACAGAAGACAGGCACCGCAGGGCGTAACCCTCCTTAGACCACAAGACACAGGGCAACACTGTCTGGGCTTCTGACACGCACAGAGGGGCGCAGGCTCAGCCCAGTCGGACAGGACTGCGGTCTACAGGGCCCCCAGAGCCAGGACAGGACCAGGGTCAGCCAGGATCCACCGGCCTCCCCTCTCCTTGTGCTTGGTGCCCCTCATGACTGGGTTCCAGCCCACTCAGGCCAAGTCCACGGGGAGCTCCCAGGCCCGGCCACACGCCACCACGGTCCTCCAGGCTCCTGTCCTGTCCACCCAGGACCTTTAAGAAGAAGCCCCTTAAATTAAGAGTGCATGGAGGAGAAGCCCCCACTAACCAGAGCCACCTCCTGCCACAGTAACAAGATGAGAGCTTCTGCAGCTCTGGGT 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ACCTCAGCTTCTGGCTGCCTCTCTCACCTCAGTGAGAAGGGAAGAGGCCTGGAGTGCCGTAGGGTTCAGTCAGCCTCCCCAAGTCCCCATCACCCAGAGCAAGTCCTGGGCAGGAGGCAGGAGCAGGAGCAGGCCACCATTGGGCCAGGCACAGCAGGACAATGCCCCTCCTCTGCTTGAGCCCAAGATGGGTGCCAGCCTTGGCCACACAGAGGCCAGGAAGACCCAGAAGCCCTGCAGAACAATGTCCTAGTGAGAGCTGAAGGGAGGGAGACGGGGCTGGGGGGCAGCGGTTCCAGGCAGAGGGACACTGGCTGAGGCCGTGGCCGGGACAGGGTGTGGGAGACACGGGAGGTTGGGGCGCATGTATGGGATGACTGTGGCTGCAGACTGGGGTGCAGGCACGTGTGAGAGACACTGAGGTCAAACTATGGGCTCGGGCAGGGTCTGTGGGCAGCTGATCTGGCAGGAGGGACCGGGGCTTTTGCTGCAAACAGTCTCAGGAGGGCAAGTCCACAGGCTGGCGTCACCTCCATGGGCAGAAGGTGCTTCAGAGACATGGAGGTGCCGTGTAGGCTGTGCAGCTCAGGGTACACAGCCCCTGCCCGTGCCTGGCCCTTGCACACAGTGGCTCCAACATGAGCAGGACGCAGAAACTGCCAGCACCCCCAGCACCCTGCAGGCCTCAGAGAGCTGCCCCAGGTGAGGCCAGCCCGAGGAGGACCGGTGGATGGAGCAGGGGCTAGGGAGGGGATGGGAGGGTGGGGGTGACCTGAAACACCAGTGCAGGAAATAGGGCAGGGTGGAGGTGAGGTGGGCACTTCTGCCTGCAGGAGCTCCCAGCCCTGATCCCCCTCTTCAGCCCCCTCAGAGCCCCAGGCACCGGCCTCACCTGTGAGAGCCTCAGGAACTCATGAGCCTTCTGCAGGCAGGACGAAAACTCGGGCCTGTGGTGCCCGCCCGCCTGGAAGAGACAGCAGGACAGAGAGGCTCAGCTGCCCTTGCACGGCCAGCATGGCTGCGCTGGTTTCCCGATGGTCCTGGCCACATCCTGCCCCAACCGGGGACCAGAATCAAACCAGCAGACATCTCCAGAGAGTGCCAGGGTCTCCTGCTGCACTTACCTTTAAAGACAAAACAGCAAAAGTCCATGAGATATGACTGAAGATGGAAGGGCGCAGGAGACCATTTATGGATGCCAGCACCCCCCTGCCTGGCCAGCATCCATGCCCAGAGGGTCTCCAGCACCCTGTGTAGGCAGGCCCTTTGCGTGGCCCAGCCCTCAGGGCTCTCCAGAAACACCTTCAGAATCCCACCTACCTCATTCCCACCGGCATAAAAATCCACTCTCGTTTTTCTCCAGTACTGGCTCGAGAATGCCCATAACAAACAGTTCCAGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCGCTGCACCCTCCACTTCCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTTGGCTAATTTTTGTGTACTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCCAAGCAGTTCCAGTTCTAAGAAGAGCCTGGAGTCCCACTCCTGCCTGCACTCTCAGAAACAGCCTTCACCAGACTCCCCTTCTCACACAGCCTCCAGCCCCTGCCCTCCCAAGGCCCCCGACCCAGCCCAACACCCAAGGCTGCTGGCCAAGGCCGCCCCCTCCACAGCACGACCCTCTGAAGCCAGAGGCCAGAGCCCAGGTCACTGGAAGTATCGAGGAGTGGCAAGTGTGTGGCCAGCAGTGCTGCCCTCAGGTGGATGCGTGGGCTCACGTGCACAGGAAGGTCAGCTGAGGCTGAGAAAAGAGAAGGAGCCACGAACCTCAAGCAGAGCCTGGATGGCGGATGCGGTGTCCCAGATCTGTGAGCCGTTGGTGCCCTACACACAAAGGATGGTGTTACAGCAGCAGATGCAGCCCCTCCCACTCCCAGCCACTGCCTCCAGGATCCAATGGGCGCCTGAGGGCCAGGTGTGGGGGCTCCCACCCAGCCAACGCTCAGCCTCAGGCTCTGAGCCCTGGGCACCCCTCATGGCTGACAAGGGCCTCAGAGAAGGCTGAGCCCTGCAGGCAGACACACGTCGGGGAGACTCAGGGAGCCCTCCCTTTCTTCATGGGCCACCAGGCAGGACAGTGTCCCTCTGAGGACACTTCTAGGACTGGACGATCCCTTAGAGGCTCCAGCACCTACACATAGAGCATCCAGCTGCTCTCACCCAATGACAGTGGCGCACCTCAGTCATGGTGATGCCTGGAAATGACCCCATTTCTTTTTTTTTTGAGATGAAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCGCTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCTCCTGCCAGCACACCCAGCTAATTTTTTTTGTATTTTTTAGTAGCATCGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGTAGGGATTACAGGCGTGAGCCACCGCACCTGGCCAATGATCCCCATTTCTGAGTACACCTGGAGGTGATGGGAATTCTGCACAGGGCTGGGAAGGCTCCACCTCAAATCTCACCCCGAGCTGGGCTCACAGGTACACAGCCTGGTCTCAGTTCAAAGGGCCGGTGACCAAACCCTAGTGAGACAGAGCTGGGCACTGACCAGACAGACATGGGGACTGGGCAGGGGGTGGTGTGTGGCAGAGGCATCCAGACATCGTGCACTGGAGGGACAAGGCAGGGACCACCAGAAAAGCATTCTCGCCAAAGAAACACAATGGGATCGAGCCTCAGGGCCTGGCCAGTTTACAAAAACTCAGGGAACATAAGAAGCAACCAGTCAGATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCCAGGGCCTGCTCTAGGGCTTGCTACTCACCTCCACTTTACATGTGTTTTGAAAACCTTTTCACAAAACACGGACAGTGTCCGGGGAGCCTCTGGGGAGCTCAAGGCCAGCTGGGTAAAAGCTCGTGGCTGGGGGCACCTGGCACCAAGGGTAGCCCTGGGGCGGGCAGTGCTGGGCCCACGTGTATCCATCCCAAATGTGACACCCAGGACACCTCTGGAGACTCCACATTTCCACACTGAATCAGGTGGGGGACAGAAGACAGGCACCGCAGGGCGTAACCCTCCTTAGACCACAAGACACAGGGCAACACTGTCTGGGCTTCTGACACGCACAGAGGGGCGCAGGCTCAGCCCAGTCGGACAGGACTGCGGTCTACAGGGCCCCCAGAGCCAGGACAGGACCAGGGTCAGCCAGGATCCACCGGCCTCCCCTCTCCTTGTGCTTGGTGCCCCTCATGACTGGGTTCCAGCCCACTCAGGCCAAGTCCACGGGGAGCTCCCAGGCCCGGCCACACGCCACCACGGTCCTCCAGGCTCCTGTCCTGTCCACCCAGGACCTTTAAGAAGAAGCCCCTTAAATTAAGAGTGCATGGAGGAGAAGCCCCCACTAACCAGAGCCACCTCCTGCCACAGTAACAAGATGAGAGCTTCTGCAGCTCTGGGT 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Task1_train_28544 | Given this context: Chromosome 21, gene LSS (lanosterol synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cataract 44 | GATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCCAGGGCCTGCTCTAGGGCTTGCTACTCACCTCCACTTTACATGTGTTTTGAAAACCTTTTCACAAAACACGGACAGTGTCCGGGGAGCCTCTGGGGAGCTCAAGGCCAGCTGGGTAAAAGCTCGTGGCTGGGGGCACCTGGCACCAAGGGTAGCCCTGGGGCGGGCAGTGCTGGGCCCACGTGTATCCATCCCAAATGTGACACCCAGGACACCTCTGGAGACTCCACATTTCCACACTGAATCAGGTGGGGGACAGAAGACAGGCACCGCAGGGCGTAACCCTCCTTAGACCACAAGACACAGGGCAACACTGTCTGGGCTTCTGACACGCACAGAGGGGCGCAGGCTCAGCCCAGTCGGACAGGACTGCGGTCTACAGGGCCCCCAGAGCCAGGACAGGACCAGGGTCAGCCAGGATCCACCGGCCTCCCCTCTCCTTGTGCTTGGTGCCCCTCATGACTGGGTTCCAGCCCACTCAGGCCAAGTCCACGGGGAGCTCCCAGGCCCGGCCACACGCCACCACGGTCCTCCAGGCTCCTGTCCTGTCCACCCAGGACCTTTAAGAAGAAGCCCCTTAAATTAAGAGTGCATGGAGGAGAAGCCCCCACTAACCAGAGCCACCTCCTGCCACAGTAACAAGATGAGAGCTTCTGCAGCTCTGGGTCTGTCGTTACACAGCTGAGCCCACTCAGATCATCAGGGCAAAAAGCAAACAGGACAGCTGCAGACAGACATCGAGAACGGTGGGCACCCACACAGAGACCAACAGCACCCACAGGGACACGGCCAGAGGCCTCAACTGACTCAGCCTCTAGTCGCACGCTGCCGGGACCTGGTCCAGGAGGAGTTATTTCTGAACCCCAAAGGAAAAATAATAAAGGGGAGACATGATTGCAAAGGAAGCATGCAGCCGCAGTCCCGCAGCCCTTACCTGCATTTTCATGCCGTCAAGGCCCATCCTGTGAGGAGAAAAAAGCCCAAGTCAGGTGCAAGGAGAAAGCTGGAAGCCCAGCTGCTACCCAGACCCTGCACTCAGGAGGGTCCCAGAGAGGCCGTCTGTCCCCTCCCGAGGCCTGGCACTGGCCTGGATGCCACCCCAGCTGGGCTGCTGGGCTCCTGGGGGTGAGGGCCACACTCTATGGAAAACAGGACACACTCACCCAGAAGGGCCACACCCAAGGCAAGGGGCAGCGGGAGGCTCCCCGACCCCAGGCTGTGCCAGCCCTGCCGCCCTCGTGCAGTGCTGAGGCACCAGAGGAAGAGGCCTGTACAGCGGAAGCTTCCCACCATGGGACGGCTCTCTGCCCTCCATGACAGGGGCCCCACCTCCAGGGCACAGTCCATGGCTGACAAGCTCCCCTTGTCCACAGGCCTCCTGATGCCAACCTGAACCTGCCCTGCTACCTACCACCCCCTTCCTCACTCTACCTTCTGGGAACACCCCACACTTCCACTGGGTGGCAAATCTTCCAATTCAAAGACAACCCTCAGTGGCTTCCACAAGCCCTGACACTGCTGGTTCCTGGAGGTATTCCCTGGCAGTATTCCCAGATGGCACCGTGGGGGCCCCCTCACTGGGATGCAGCTGGGGCTCAGATCCAGTCTTCGTGAGAGGCCCCGCCAGCATATCCCAGCCACACTCACCAGAGATAGTCCGGGATTCTGGAGACATGCTCCTGGAAGGCAGTGGAGGCGGGCCCGTCCACATACCAGCGCACAAGCATGTTGATGGTTTTCGAGATCTGCAGGAGAGACAGCCCTGTCAAGGCTCCGCTCCAGACCCACAGCAGCCTCCAGGGACAAGGTCTCGTCCAGATCCACAGCAGCCCCCAGGCATAAAGTGCCGTGCAGATCACTCAGGGCCAGGACAGGGGCCTTCTGCTCTAACAGGCATTTCCTGAGCGAGGATGGGCAACAACTGTGTCCCCAGGACCCAACTCAGACAGAGGCAGTGTCGGCCAAGGCCACAGCCTGCCTTAGGCTGTGAGAAGGAGCAGCACTCCACCAGGGAGAAGCGAGGGGTTCCAGGAGAAACCAGAGGGGCATGGGCTACCAGGTGCCTTAGAGACAACACAGGGGACAGAGGACAGGGCCTGAGGGGCCCAGGAAGAGATGCGAAGACAGGACTGTAGCAGTAGGGACCACTTGCCCCCCTTCTTCCTCAGAACAGAATGTTCCAGAGGCCCCCAACTTTTTACTTATGCATCTCACAAGTCAAGATCCAATTGCAAGCATGTTTCTAATGCGTTTAGTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTC 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GATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCCAGGGCCTGCTCTAGGGCTTGCTACTCACCTCCACTTTACATGTGTTTTGAAAACCTTTTCACAAAACACGGACAGTGTCCGGGGAGCCTCTGGGGAGCTCAAGGCCAGCTGGGTAAAAGCTCGTGGCTGGGGGCACCTGGCACCAAGGGTAGCCCTGGGGCGGGCAGTGCTGGGCCCACGTGTATCCATCCCAAATGTGACACCCAGGACACCTCTGGAGACTCCACATTTCCACACTGAATCAGGTGGGGGACAGAAGACAGGCACCGCAGGGCGTAACCCTCCTTAGACCACAAGACACAGGGCAACACTGTCTGGGCTTCTGACACGCACAGAGGGGCGCAGGCTCAGCCCAGTCGGACAGGACTGCGGTCTACAGGGCCCCCAGAGCCAGGACAGGACCAGGGTCAGCCAGGATCCACCGGCCTCCCCTCTCCTTGTGCTTGGTGCCCCTCATGACTGGGTTCCAGCCCACTCAGGCCAAGTCCACGGGGAGCTCCCAGGCCCGGCCACACGCCACCACGGTCCTCCAGGCTCCTGTCCTGTCCACCCAGGACCTTTAAGAAGAAGCCCCTTAAATTAAGAGTGCATGGAGGAGAAGCCCCCACTAACCAGAGCCACCTCCTGCCACAGTAACAAGATGAGAGCTTCTGCAGCTCTGGGTCTGTCGTTACACAGCTGAGCCCACTCAGATCATCAGGGCAAAAAGCAAACAGGACAGCTGCAGACAGACATCGAGAACGGTGGGCACCCACACAGAGACCAACAGCACCCACAGGGACACGGCCAGAGGCCTCAACTGACTCAGCCTCTAGTCGCACGCTGCCGGGACCTGGTCCAGGAGGAGTTATTTCTGAACCCCAAAGGAAAAATAATAAAGGGGAGACATGATTGCAAAGGAAGCATGCAGCCGCAGTCCCGCAGCCCTTACCTGCATTTTCATGCCGTCAAGGCCCATCCTGTGAGGAGAAAAAAGCCCAAGTCAGGTGCAAGGAGAAAGCTGGAAGCCCAGCTGCTACCCAGACCCTGCACTCAGGAGGGTCCCAGAGAGGCCGTCTGTCCCCTCCCGAGGCCTGGCACTGGCCTGGATGCCACCCCAGCTGGGCTGCTGGGCTCCTGGGGGTGAGGGCCACACTCTATGGAAAACAGGACACACTCACCCAGAAGGGCCACACCCAAGGCAAGGGGCAGCGGGAGGCTCCCCGACCCCAGGCTGTGCCAGCCCTGCCGCCCTCGTGCAGTGCTGAGGCACCAGAGGAAGAGGCCTGTACAGCGGAAGCTTCCCACCATGGGACGGCTCTCTGCCCTCCATGACAGGGGCCCCACCTCCAGGGCACAGTCCATGGCTGACAAGCTCCCCTTGTCCACAGGCCTCCTGATGCCAACCTGAACCTGCCCTGCTACCTACCACCCCCTTCCTCACTCTACCTTCTGGGAACACCCCACACTTCCACTGGGTGGCAAATCTTCCAATTCAAAGACAACCCTCAGTGGCTTCCACAAGCCCTGACACTGCTGGTTCCTGGAGGTATTCCCTGGCAGTATTCCCAGATGGCACCGTGGGGGCCCCCTCACTGGGATGCAGCTGGGGCTCAGATCCAGTCTTCGTGAGAGGCCCCGCCAGCATATCCCAGCCACACTCACCAGAGATAGTCCGGGATTCTGGAGACATGCTCCTGGAAGGCAGTGGAGGCGGGCCCGTCCACATACCAGCGCACAAGCATGTTGCTGGTTTTCGAGATCTGCAGGAGAGACAGCCCTGTCAAGGCTCCGCTCCAGACCCACAGCAGCCTCCAGGGACAAGGTCTCGTCCAGATCCACAGCAGCCCCCAGGCATAAAGTGCCGTGCAGATCACTCAGGGCCAGGACAGGGGCCTTCTGCTCTAACAGGCATTTCCTGAGCGAGGATGGGCAACAACTGTGTCCCCAGGACCCAACTCAGACAGAGGCAGTGTCGGCCAAGGCCACAGCCTGCCTTAGGCTGTGAGAAGGAGCAGCACTCCACCAGGGAGAAGCGAGGGGTTCCAGGAGAAACCAGAGGGGCATGGGCTACCAGGTGCCTTAGAGACAACACAGGGGACAGAGGACAGGGCCTGAGGGGCCCAGGAAGAGATGCGAAGACAGGACTGTAGCAGTAGGGACCACTTGCCCCCCTTCTTCCTCAGAACAGAATGTTCCAGAGGCCCCCAACTTTTTACTTATGCATCTCACAAGTCAAGATCCAATTGCAAGCATGTTTCTAATGCGTTTAGTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTC 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Task1_train_28545 | Here is a mutation in LSS (lanosterol synthase) on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alopecia-intellectual disability syndrome 4 | GTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTCCCACCATCCGCCCTCAGGGCCCTGGGCCAGTCCCTTCCTGGGTGGGGGTCCCTCCAGCAACTGACCCCGAGGCCACATGAAGGCCCCCTATGGGAGGACCGCTCTGAGGAGCTCCCCAGCTCCATGAGTCCCAGGTCTGCCCAGAAGCTCATTTCCTCCCTCTGCCCCTCCTTCTTCCCCATGGCAGGCCTGATAAACATCCTGCACCTCAAACCTCGCCTCAGGCCTGCTTCCAGAGGACACAGTGCACATCTGCCTCCTGCATCCCTTGAGTCCTGGAAGTCCCCCCCAGGAACCCTGGGCTACAGCTACTGACTGTCCCATAGCACAAGTCCCCTCTGGGCAGAGCTTGCTCACTGTTTATTATAGGATGGAGGAAGGTGGAGGCTCTGCTCCACAGGGCTCTCCGCTCCACAGGGCCACCAGGTGAGTGGACAGGTGTGGTTAGATTCCAGAAGCCCCAGGCCCTGTGGGTCCCAGCCCCAGAGGCCTTCACTTTGTTCCCTGATGAGGTCCTACCTGGCGGAGGCTCTGGACCAGCGGGTCTTCCGCGGCACTCAGCCGAACGGCGTAGCAGTAGCTCATGGGCAGGTACACCTGCCGGCAGTGGCACCAGAGTGTGGAGGGGTGTGCCGGTGCCCAGTCAGGAAACAGCCTGGGGCAACAGCAGGAGTCAGTGGGAGACCCCAAGACTCAAGCCTGCCCCCTCCGCCAGCATCCATACCTTGGGCCCTTTCAAGCACGAACACTGGTGGATGGCTATTCCCCACCACGTCAGTGCATCTGCGGGCATTTCCCAACCGTGCTCCTGAGGGGCACAGTTGAACCATAGGTGCACCCTCTGAGGAGCTGCACCTCCTAGTTCGGTCAGCATTTTGCATCCTAAAACCAGGTGATGGAGCTCCTAAATGCTTAGGATTGTCCGTGGGTTTCTTAGCTACAACAAACGTACCTTGGTAACATAAAACATCAACAATGGGGATATGGTGTGAGGGCCCCAGGGAACACTCTTGGCTATCTTTGCAACTTTTCCAGAAATTGGAAACTACTCCAAAATTTAAAGTTTACTTTTAAAAGTGTATTTAAGAAACTTTAGGAGGGGCACGGTGGCTCACGCCTGTAACCCTAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGTGTGCCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACAGCCTGGTGACAGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAAAAGAAACTGTAGGTCTGTGGAATCTCCCCAAGGCCTGGGTCTTTGATCACTGGTCTGCTGACGTTAGCACAGCTCCACCAGCTTCCCAGGGTCTGTGTGTGCCTCATGTGTTTTCTCTCCCTTTCCCTGCTAGCCCCCATCCTTATGTGATGCCTTATGTGATGCTAGCCCCATCCTTAAGTGAGGGTGAGCAATGCTGAGCCTTCCCTGCTCCCTGACTGTGGCATCAGGCCTTGGCCCACTTTCACACCCACTTACTTAAAAGGGTGTTTTTTTTTCTCACATTTTGGGTTACACTTCCAGCATTTCGCAGCTGGAGTGGTTCAGGTCTGTGGTCCTCCTTTCACCTCCCAACCCACCCTCCAAGCAACTCCAGCAAAGACAAGCAGCACCCTGGCGTGCCCATGCGGCAGCACTGACCGACGGCCCCCCCAAGTGGGGCAGATGAGACGCCCTCACCAGCACCAGCGTGTGGAACCCACACCCCTCCTGCCCTGGCAGCTGTGCTGACTGCCGTCTCAGTCCTTCCTCTGCCGCTCATTACACACGGGCGAGGCGCAGAGTCCAGCGGGCATTTGAATGGCCCCAGGACACCTCCCAACCTATGTGCTCTACGGCCCGCCTCAGGTAGCGGCACCCTAACCCTGCCCCCTACTCTGGTATCTCTGTCTACCCTCCCGGGGTGATCTCACCATCCCTGTGCCTCCCCGTCACCACCCAAACTGGCTTCCGGGGTTAAGCCCCCGGCCTTTGCATCAGGACACTGCTGCTGTCCTTTCTTGAGCGGCCCCTTCACTTCCTGCCTCCCCTAACTTGACCCCCCACCCCCCACCCCCGCACCAAAGTCATCTAACACAAGGGACCCCCCCAGCCCTGCTGATAGCTCTCTAGGGGACACCCCCACCAGGGTTCCCACAACACTCAAGGAAGCCAGCAGGGGCTCTGTGTGGTTCCAGGGTCTCACTTCCCAAAATGCATAACGGGGTAAACTCATATGCACGAGTGTTTTCTGGGGAGATGTCCACTGCTTTCAATAGATAGCCATAAAATGTTACAAGACACCACATAAGGCCGGGAGCAGTGGCTCATGGCTCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACA 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GTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTCCCACCATCCGCCCTCAGGGCCCTGGGCCAGTCCCTTCCTGGGTGGGGGTCCCTCCAGCAACTGACCCCGAGGCCACATGAAGGCCCCCTATGGGAGGACCGCTCTGAGGAGCTCCCCAGCTCCATGAGTCCCAGGTCTGCCCAGAAGCTCATTTCCTCCCTCTGCCCCTCCTTCTTCCCCATGGCAGGCCTGATAAACATCCTGCACCTCAAACCTCGCCTCAGGCCTGCTTCCAGAGGACACAGTGCACATCTGCCTCCTGCATCCCTTGAGTCCTGGAAGTCCCCCCCAGGAACCCTGGGCTACAGCTACTGACTGTCCCATAGCACAAGTCCCCTCTGGGCAGAGCTTGCTCACTGTTTATTATAGGATGGAGGAAGGTGGAGGCTCTGCTCCACAGGGCTCTCCGCTCCACAGGGCCACCAGGTGAGTGGACAGGTGTGGTTAGATTCCAGAAGCCCCAGGCCCTGTGGGTCCCAGCCCCAGAGGCCTTCACTTTGTTCCCTGATGAGGTCCTACCTGGGGGAGGCTCTGGACCAGCGGGTCTTCCGCGGCACTCAGCCGAACGGCGTAGCAGTAGCTCATGGGCAGGTACACCTGCCGGCAGTGGCACCAGAGTGTGGAGGGGTGTGCCGGTGCCCAGTCAGGAAACAGCCTGGGGCAACAGCAGGAGTCAGTGGGAGACCCCAAGACTCAAGCCTGCCCCCTCCGCCAGCATCCATACCTTGGGCCCTTTCAAGCACGAACACTGGTGGATGGCTATTCCCCACCACGTCAGTGCATCTGCGGGCATTTCCCAACCGTGCTCCTGAGGGGCACAGTTGAACCATAGGTGCACCCTCTGAGGAGCTGCACCTCCTAGTTCGGTCAGCATTTTGCATCCTAAAACCAGGTGATGGAGCTCCTAAATGCTTAGGATTGTCCGTGGGTTTCTTAGCTACAACAAACGTACCTTGGTAACATAAAACATCAACAATGGGGATATGGTGTGAGGGCCCCAGGGAACACTCTTGGCTATCTTTGCAACTTTTCCAGAAATTGGAAACTACTCCAAAATTTAAAGTTTACTTTTAAAAGTGTATTTAAGAAACTTTAGGAGGGGCACGGTGGCTCACGCCTGTAACCCTAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGTGTGCCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACAGCCTGGTGACAGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAAAAGAAACTGTAGGTCTGTGGAATCTCCCCAAGGCCTGGGTCTTTGATCACTGGTCTGCTGACGTTAGCACAGCTCCACCAGCTTCCCAGGGTCTGTGTGTGCCTCATGTGTTTTCTCTCCCTTTCCCTGCTAGCCCCCATCCTTATGTGATGCCTTATGTGATGCTAGCCCCATCCTTAAGTGAGGGTGAGCAATGCTGAGCCTTCCCTGCTCCCTGACTGTGGCATCAGGCCTTGGCCCACTTTCACACCCACTTACTTAAAAGGGTGTTTTTTTTTCTCACATTTTGGGTTACACTTCCAGCATTTCGCAGCTGGAGTGGTTCAGGTCTGTGGTCCTCCTTTCACCTCCCAACCCACCCTCCAAGCAACTCCAGCAAAGACAAGCAGCACCCTGGCGTGCCCATGCGGCAGCACTGACCGACGGCCCCCCCAAGTGGGGCAGATGAGACGCCCTCACCAGCACCAGCGTGTGGAACCCACACCCCTCCTGCCCTGGCAGCTGTGCTGACTGCCGTCTCAGTCCTTCCTCTGCCGCTCATTACACACGGGCGAGGCGCAGAGTCCAGCGGGCATTTGAATGGCCCCAGGACACCTCCCAACCTATGTGCTCTACGGCCCGCCTCAGGTAGCGGCACCCTAACCCTGCCCCCTACTCTGGTATCTCTGTCTACCCTCCCGGGGTGATCTCACCATCCCTGTGCCTCCCCGTCACCACCCAAACTGGCTTCCGGGGTTAAGCCCCCGGCCTTTGCATCAGGACACTGCTGCTGTCCTTTCTTGAGCGGCCCCTTCACTTCCTGCCTCCCCTAACTTGACCCCCCACCCCCCACCCCCGCACCAAAGTCATCTAACACAAGGGACCCCCCCAGCCCTGCTGATAGCTCTCTAGGGGACACCCCCACCAGGGTTCCCACAACACTCAAGGAAGCCAGCAGGGGCTCTGTGTGGTTCCAGGGTCTCACTTCCCAAAATGCATAACGGGGTAAACTCATATGCACGAGTGTTTTCTGGGGAGATGTCCACTGCTTTCAATAGATAGCCATAAAATGTTACAAGACACCACATAAGGCCGGGAGCAGTGGCTCATGGCTCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACA 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Task1_train_28546 | The gene LSS (lanosterol synthase) on Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypotrichosis 14 | CACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTCCCACCATCCGCCCTCAGGGCCCTGGGCCAGTCCCTTCCTGGGTGGGGGTCCCTCCAGCAACTGACCCCGAGGCCACATGAAGGCCCCCTATGGGAGGACCGCTCTGAGGAGCTCCCCAGCTCCATGAGTCCCAGGTCTGCCCAGAAGCTCATTTCCTCCCTCTGCCCCTCCTTCTTCCCCATGGCAGGCCTGATAAACATCCTGCACCTCAAACCTCGCCTCAGGCCTGCTTCCAGAGGACACAGTGCACATCTGCCTCCTGCATCCCTTGAGTCCTGGAAGTCCCCCCCAGGAACCCTGGGCTACAGCTACTGACTGTCCCATAGCACAAGTCCCCTCTGGGCAGAGCTTGCTCACTGTTTATTATAGGATGGAGGAAGGTGGAGGCTCTGCTCCACAGGGCTCTCCGCTCCACAGGGCCACCAGGTGAGTGGACAGGTGTGGTTAGATTCCAGAAGCCCCAGGCCCTGTGGGTCCCAGCCCCAGAGGCCTTCACTTTGTTCCCTGATGAGGTCCTACCTGGCGGAGGCTCTGGACCAGCGGGTCTTCCGCGGCACTCAGCCGAACGGCGTAGCAGTAGCTCATGGGCAGGTACACCTGCCGGCAGTGGCACCAGAGTGTGGAGGGGTGTGCCGGTGCCCAGTCAGGAAACAGCCTGGGGCAACAGCAGGAGTCAGTGGGAGACCCCAAGACTCAAGCCTGCCCCCTCCGCCAGCATCCATACCTTGGGCCCTTTCAAGCACGAACACTGGTGGATGGCTATTCCCCACCACGTCAGTGCATCTGCGGGCATTTCCCAACCGTGCTCCTGAGGGGCACAGTTGAACCATAGGTGCACCCTCTGAGGAGCTGCACCTCCTAGTTCGGTCAGCATTTTGCATCCTAAAACCAGGTGATGGAGCTCCTAAATGCTTAGGATTGTCCGTGGGTTTCTTAGCTACAACAAACGTACCTTGGTAACATAAAACATCAACAATGGGGATATGGTGTGAGGGCCCCAGGGAACACTCTTGGCTATCTTTGCAACTTTTCCAGAAATTGGAAACTACTCCAAAATTTAAAGTTTACTTTTAAAAGTGTATTTAAGAAACTTTAGGAGGGGCACGGTGGCTCACGCCTGTAACCCTAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGTGTGCCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACAGCCTGGTGACAGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAAAAGAAACTGTAGGTCTGTGGAATCTCCCCAAGGCCTGGGTCTTTGATCACTGGTCTGCTGACGTTAGCACAGCTCCACCAGCTTCCCAGGGTCTGTGTGTGCCTCATGTGTTTTCTCTCCCTTTCCCTGCTAGCCCCCATCCTTATGTGATGCCTTATGTGATGCTAGCCCCATCCTTAAGTGAGGGTGAGCAATGCTGAGCCTTCCCTGCTCCCTGACTGTGGCATCAGGCCTTGGCCCACTTTCACACCCACTTACTTAAAAGGGTGTTTTTTTTTCTCACATTTTGGGTTACACTTCCAGCATTTCGCAGCTGGAGTGGTTCAGGTCTGTGGTCCTCCTTTCACCTCCCAACCCACCCTCCAAGCAACTCCAGCAAAGACAAGCAGCACCCTGGCGTGCCCATGCGGCAGCACTGACCGACGGCCCCCCCAAGTGGGGCAGATGAGACGCCCTCACCAGCACCAGCGTGTGGAACCCACACCCCTCCTGCCCTGGCAGCTGTGCTGACTGCCGTCTCAGTCCTTCCTCTGCCGCTCATTACACACGGGCGAGGCGCAGAGTCCAGCGGGCATTTGAATGGCCCCAGGACACCTCCCAACCTATGTGCTCTACGGCCCGCCTCAGGTAGCGGCACCCTAACCCTGCCCCCTACTCTGGTATCTCTGTCTACCCTCCCGGGGTGATCTCACCATCCCTGTGCCTCCCCGTCACCACCCAAACTGGCTTCCGGGGTTAAGCCCCCGGCCTTTGCATCAGGACACTGCTGCTGTCCTTTCTTGAGCGGCCCCTTCACTTCCTGCCTCCCCTAACTTGACCCCCCACCCCCCACCCCCGCACCAAAGTCATCTAACACAAGGGACCCCCCCAGCCCTGCTGATAGCTCTCTAGGGGACACCCCCACCAGGGTTCCCACAACACTCAAGGAAGCCAGCAGGGGCTCTGTGTGGTTCCAGGGTCTCACTTCCCAAAATGCATAACGGGGTAAACTCATATGCACGAGTGTTTTCTGGGGAGATGTCCACTGCTTTCAATAGATAGCCATAAAATGTTACAAGACACCACATAAGGCCGGGAGCAGTGGCTCATGGCTCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAACAATT 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CACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCCCTGCAGGCCCCACAGAGGTGAGAGCTCCAAGTCCCTAGCTAGGCAGGAGGAATCAGGAGTGGCACCTGCTACTCCCACCCACCCTGGGCATGTCTAAACCCCACGGGAGAATGGCGAATGATGAACTGTTTGGGGAGAGGGAACCAAGTGAGGAAAAAGCACCCCTCCCAGCTAGCCAGCTAGCCAGCAAGATCTCAGGGAGGGGCCTCTAGGAGAGTGTCCAGGCACACTGAGGACAAGAGCCGGTGGGGGACGGAAGCGGGGGGTCGAGTGTGGTGGGGCAACTTCACTGAGCTGGGCGTGCAGGGGTCCAGGACAGAAGCCCTCAGACACTTGTGCGATCAGAGGGCCACCTCCCAAATGGAGGTACACCAGGCTCCAGGAAACCCCACTCCCAGCTCACAGCCCGGCCTCTAGGACTTCACTTTCGGACCTCAACCCCCAGGGGCTGCAGTCAGAGGCCGGGCAGGGGCACTGACCGGGCCGATGCTGATGCTCTTGGTGAATCGGTCGTCGGCCACAATGTGTTCATACAGCTTCTGCACGGCCCGCTGCCGCAGGTGGGCACTGTGGTGGTGCTCATACAGGTTGAGGAGCGCTACAGGGGACAGGGGTCAGTGGATGCCAGACACCATGACACTGGCCTCAGCCTGGAGCTCCATGCACTGCAACGCCTGGACTTGCCCTTCCCAGGGTTTCCCCCTCCCACCCACCCCCAGGCCTGGTCTCTGAGCTCCTCCTTCCCTGCCCAGGAGGGGCTGCCCCACACCTCCTACCACACACCCTTGCACAGGGTGGACTCCTGAGAGTAGAAGACCAGCTGGTTCTCAGGGTGGAGGGGCAGGGCGATGAGATCCCGCCCCCTGGGGCCTGGCACAGAGGAGGTGGCCCAGTGCCGCTGGCAGGGGATGAGTGCGTGAATGAGTGGGCGACACCCTGACCCTGACCCTGGGCTGCCCTGCCGGCCCCTCAGGAGGCGCTCACCATATACCACGCGGAGCAGCCAGCTGTGCGGCGTGTACAGCTCGTCGGGGGCCACGTTGTTCCTCTGCGCCAGCCAGTCAATGCTGGCGAAGTCCTCCACATAGAGCTCCTGGTGGGGGCAGTGTCTGAGCCTTGGGGCCTGGGAGCACCTGGTAGGCCTGGCTCAAACCAGGAGGGGTGGCCTCCCACCATCCGCCCTCAGGGCCCTGGGCCAGTCCCTTCCTGGGTGGGGGTCCCTCCAGCAACTGACCCCGAGGCCACATGAAGGCCCCCTATGGGAGGACCGCTCTGAGGAGCTCCCCAGCTCCATGAGTCCCAGGTCTGCCCAGAAGCTCATTTCCTCCCTCTGCCCCTCCTTCTTCCCCATGGCAGGCCTGATAAACATCCTGCACCTCAAACCTCGCCTCAGGCCTGCTTCCAGAGGACACAGTGCACATCTGCCTCCTGCATCCCTTGAGTCCTGGAAGTCCCCCCCAGGAACCCTGGGCTACAGCTACTGACTGTCCCATAGCACAAGTCCCCTCTGGGCAGAGCTTGCTCACTGTTTATTATAGGATGGAGGAAGGTGGAGGCTCTGCTCCACAGGGCTCTCCGCTCCACAGGGCCACCAGGTGAGTGGACAGGTGTGGTTAGATTCCAGAAGCCCCAGGCCCTGTGGGTCCCAGCCCCAGAGGCCTTCACTTTGTTCCCTGATGAGGTCCTACCTGGCGGAGGCTCTGGACCAGCGGGTCTTCCGCGGCACTCGGCCGAACGGCGTAGCAGTAGCTCATGGGCAGGTACACCTGCCGGCAGTGGCACCAGAGTGTGGAGGGGTGTGCCGGTGCCCAGTCAGGAAACAGCCTGGGGCAACAGCAGGAGTCAGTGGGAGACCCCAAGACTCAAGCCTGCCCCCTCCGCCAGCATCCATACCTTGGGCCCTTTCAAGCACGAACACTGGTGGATGGCTATTCCCCACCACGTCAGTGCATCTGCGGGCATTTCCCAACCGTGCTCCTGAGGGGCACAGTTGAACCATAGGTGCACCCTCTGAGGAGCTGCACCTCCTAGTTCGGTCAGCATTTTGCATCCTAAAACCAGGTGATGGAGCTCCTAAATGCTTAGGATTGTCCGTGGGTTTCTTAGCTACAACAAACGTACCTTGGTAACATAAAACATCAACAATGGGGATATGGTGTGAGGGCCCCAGGGAACACTCTTGGCTATCTTTGCAACTTTTCCAGAAATTGGAAACTACTCCAAAATTTAAAGTTTACTTTTAAAAGTGTATTTAAGAAACTTTAGGAGGGGCACGGTGGCTCACGCCTGTAACCCTAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATAAGCCAGGCATGGTGGTGTGTGCCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACAGCCTGGTGACAGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAAAAGAAACTGTAGGTCTGTGGAATCTCCCCAAGGCCTGGGTCTTTGATCACTGGTCTGCTGACGTTAGCACAGCTCCACCAGCTTCCCAGGGTCTGTGTGTGCCTCATGTGTTTTCTCTCCCTTTCCCTGCTAGCCCCCATCCTTATGTGATGCCTTATGTGATGCTAGCCCCATCCTTAAGTGAGGGTGAGCAATGCTGAGCCTTCCCTGCTCCCTGACTGTGGCATCAGGCCTTGGCCCACTTTCACACCCACTTACTTAAAAGGGTGTTTTTTTTTCTCACATTTTGGGTTACACTTCCAGCATTTCGCAGCTGGAGTGGTTCAGGTCTGTGGTCCTCCTTTCACCTCCCAACCCACCCTCCAAGCAACTCCAGCAAAGACAAGCAGCACCCTGGCGTGCCCATGCGGCAGCACTGACCGACGGCCCCCCCAAGTGGGGCAGATGAGACGCCCTCACCAGCACCAGCGTGTGGAACCCACACCCCTCCTGCCCTGGCAGCTGTGCTGACTGCCGTCTCAGTCCTTCCTCTGCCGCTCATTACACACGGGCGAGGCGCAGAGTCCAGCGGGCATTTGAATGGCCCCAGGACACCTCCCAACCTATGTGCTCTACGGCCCGCCTCAGGTAGCGGCACCCTAACCCTGCCCCCTACTCTGGTATCTCTGTCTACCCTCCCGGGGTGATCTCACCATCCCTGTGCCTCCCCGTCACCACCCAAACTGGCTTCCGGGGTTAAGCCCCCGGCCTTTGCATCAGGACACTGCTGCTGTCCTTTCTTGAGCGGCCCCTTCACTTCCTGCCTCCCCTAACTTGACCCCCCACCCCCCACCCCCGCACCAAAGTCATCTAACACAAGGGACCCCCCCAGCCCTGCTGATAGCTCTCTAGGGGACACCCCCACCAGGGTTCCCACAACACTCAAGGAAGCCAGCAGGGGCTCTGTGTGGTTCCAGGGTCTCACTTCCCAAAATGCATAACGGGGTAAACTCATATGCACGAGTGTTTTCTGGGGAGATGTCCACTGCTTTCAATAGATAGCCATAAAATGTTACAAGACACCACATAAGGCCGGGAGCAGTGGCTCATGGCTCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAACAATT 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Task1_train_28547 | Given this variant in gene LSS (lanosterol synthase) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Alopecia-intellectual disability syndrome 4 | CAGTCAGGCCCACCCGCAGTTATCCGGAGGCCTAACCATCTCCCTGTGATGCTGTGCTTCAGTGGTCACGCTCCTAGTCCACTTTCATGTTCCACCCTGTACACCTGGCTCTGCCTTTTAGATAACAGTAGCAAAATTAGTGAAAGTACTAAAAGTCTCTGATATGCAGAAATAATGGCATAAGCTGTCTCTCTCTCTCTCTCTCCCACTCTCTGCCTCGGCTGCCAGGCAGGGAAGAGCCCACTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGATGGCTCACACTCCTTACCCTGCCCCTTTGTCTTGTATCCAATAAATATCAGCGCAGCCTGGCATTCAGGGCCACTACCGGTTTCCACGTCTTGGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTTCATCTCTCTGTCTTGTGTCTTTATTTCTACAATCTCTCATCTCCGCACACAGGGAGAAAAACCTACCGACCCTGTGGGGCTGGACCCTACAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCAGAGGCTGCAACGAGCCAAAATTGTGCCATTGCACTCCAGCCTGGGGAACAAGAGCGAACGCTGTCTCAAAAAAAAAAAAAAAATACAAAAAAACTCCAACTCACAGCCAGCCCACAGGAAGGGTCCCAGCCAGCTAAGCCCAGAGCCAAAGCAGCAAGAACAAACAACACAGTAATCCCCACTGACCAAGCACCACTGCATGCCTGACACTGTGCACATGACCAAACCTGATTCCAATCCTGTCACAGGTCAGGCTACAGAGGCAAAGTGGGGCTGACCCATCTCCTGACCAACTCTATGTCATTGCCTTACCACGAGCCCTGAGAACAGTCTAAACAGGCCCTGATGGGGCCAAGGGAAGAAGAGCACCTTGACTTCCCCTAAGGACAGGCCCTCAAATCCCAGGACAGAAAAACTCAATGCTGTACAGTCCAGGTGGCAGCAGGGCTAGAAGTCAAAGCAGAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTCTATCTATTACAAAGTCAGCGTAGTAAAAGAAAATGATGTATCAGTAAGAGTTATCACAGAAACAAAACCTATTTATGTAGGAATTCACGTCATTGAAACAATGTGATTACAAGTCACTAGGGAAAAAAGTCCTATTGCATAAATTCATAGGAGGGAATTTCCCATTTTACAAGGCTGAGGATTTCTGTAGAGAAACACTCCCAGGATGCAAAATAGTCTTGTGTAGCCAAATCAGTTCAATACCCAGGCAGTCCAACTGCTATGCTCCTCCTACTCACCAGCCTGAACCTGAAGCTCTCCTGCAATAGCCCCGAGGAAGTTCACAGCAGATATCAGCTCCCCACCCACCACTCTGCCCACCTACAGCCCCTTGGCATAGGCTGGGCCTTCCACCTGGAATGTCCATCCCATCCTGTACTGAGACTTCAAAGCCCACCTTCCTCCTCCCTCAAGGCAACACAGAGCCCTAGAGAACCACTTGCTTCTCTTATCAGAGAGCCTGTCACCCTACACTGGCAAGGCTAGCTGATCCCCTAGACCAATAGCAGGACGACTCTGACATAGGGCAGAGTTTGCCAGCCCTTTTCTTGTGAGCCCCTGGATTTTCACCTGCTTCATCAAAACCCTAGACCAGGCTGGGCCAGGATCCCAAGGGTGATCCAGGGTGGCCATACCATCAGGCTGGGGCAGCATACTCCTACCTGGCAGGAGGAAAAGTGGGCCACCATAATCACCCGTCCAGTGCCCATCCTCAGCCTGCAGCCCCACGTAAAATGTCATCCCGTTCAGAGCCCCCTCAAAGGCGGTGTGGGCTTTGGGCAAGTCCTTAAAGTAATTCTTCTGCAAAGAGATCGAAAAAAAAAAAAAGAGATAGCTGACGGGACTGTTGCCCGGCCAGAGGAACCCTCTTCACATACAGCCCAAGTCAAAACAGTGAATGTAAATTACTTTAAAAGTTTCAGCTGTTTCCATCAAAAGTCTGAAACTCTTTGATGAGAGCATCACACCTCAGCAAAGTAAAAGAACAGCTGCACATTTTCGTTGCTTTATTTGCCAGTCATGTATTCTTCACAACTTCTCCAAGATGTCTGGAATAAACCAGGCACCCAGACTGTAGGGTGGGGCACGGGTGCCGACCTGGGCCTGGGACTCGGGCCTCTCAAAGAGGGCCCAAGGGGCGGCACAGCCTTTCCCTCGGTGGCCGGGGCTCGGCAGGAGACCCTGTTTACACTGCAGACTCTGACGACCAAAATCTCTTACAATGCACACAACTAAGACAGTGGATCCAAACACTTTTTGTGAATAAAAACAAAGTTACAACTATCTTTGCAACTCTCCTATAAGTCAAAAATTATCTCAAAATAAGGTGCTAAAAAATAAAACATTAGGAGTCTCCTATGCGTGGTTTAGAGATGAAGGGGCTGAAGCGGAGGGGCCCGCGAACGCAGTTCCCGTGGGCGCTCGCCTTGGGGATGGGCGTCGCTGGCCGGGTCCTCCCACCCGCCTTTCTGAGAGAAAACGTGCTCCTCACGGCTCACCCCTCAGGGTCCCGAGCTCGCTGACGCTCCGCGGAAGCAACTTACGGTGTCCAGCCCCAGGGCGTAGGCTTCCAGGCCGGTCTGCTCGCGGCCGGCGCGCTCGTCCTGCAGGTAGGTCCACGTCTGCCGGCCCCTCTCGCAGTTGAGTCGCCAGCGGCCGAGGTCGGTGGCGGGCTCGGTCTTGTAGGGGCCCCCTCGGCGCCGCAGACACCTGAGGACCACCGGCCATCAGCGACCCAGGCCCCGCCCCAACGCCGGCCGCCGGCCCACTGCCCCAGTCGCGCTCTCCTCAGCACCTAGGACCACCCCGCATTCGTCAGGAGCCCGGGGCGAGGGGACTCACGTGCCCTCCGTCATTGCTGCTGCAGTGCTCTACGCCGCCCACTGCCAGCTGCCAGATGTCCGCACCCGGGACCTGCCGCCCAGCCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCGCGCACTACGCAGGCGCAGGCCTCGGCAGGCGCTCAGGCTTAGGTGGGCCGACGCCCACGCAACCAATCAGAGCGCCGCGAGCGTGACCCCGGGGTGTGCCAGGCGACCACAGTGGTGGAGCGCTTGGTGCCCCATGCGGCGTGGGGCGGGGCCTGAGGGAGCGGGGATGGTGGGTGAAGGCGACGGGACGGGGGAGGCGGGTGGGGCCTTATTGGCGGGGCATGAGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCCTGGTGGGTGCGGGTGGGGGCGGGGCTGGTGGGTGGGGCCGAAGGGCGGGGGCGGGGCCTCTCGCGCGCCCTCTAGAGGCTTGCGTCCCGGGAGCCCGGCCTCGTGCGCCGCGCTTTGAGGTGAGCCTCTCTGAGAAATTTGTGAGGAGGGTCCAGCCGCGGGTCGGAAGGAAGGACGTGGGGAGCGAGGCTCGAGCGAGCGACAGCGAGTGCGAAGGTCGGGTGGCAGGGAATTGCTCTCGCGCTGCAGGATTTGCCCGGACGCCGGGGCCGGGGGTGGGGGCGGGAGGCCGCCCTGAGGTGAGGTGGGCGCGGGCCGTCGGCTCCAGTGCGAGACCAGGGGGAGGGCGGGGCGGAGCGGAGGAGCCGAGGGCGCCGCCGGCGTCCCTGGGAAGCTGAGCGCCGCGTAGCTTCGCCGGGGGGAGTGGGGTAGGCGCGGTGAGGCCGTGGGCCCCCACACCTGGCGGA 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CAGTCAGGCCCACCCGCAGTTATCCGGAGGCCTAACCATCTCCCTGTGATGCTGTGCTTCAGTGGTCACGCTCCTAGTCCACTTTCATGTTCCACCCTGTACACCTGGCTCTGCCTTTTAGATAACAGTAGCAAAATTAGTGAAAGTACTAAAAGTCTCTGATATGCAGAAATAATGGCATAAGCTGTCTCTCTCTCTCTCTCTCCCACTCTCTGCCTCGGCTGCCAGGCAGGGAAGAGCCCACTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGATGGCTCACACTCCTTACCCTGCCCCTTTGTCTTGTATCCAATAAATATCAGCGCAGCCTGGCATTCAGGGCCACTACCGGTTTCCACGTCTTGGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTTCATCTCTCTGTCTTGTGTCTTTATTTCTACAATCTCTCATCTCCGCACACAGGGAGAAAAACCTACCGACCCTGTGGGGCTGGACCCTACAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCAGAGGCTGCAACGAGCCAAAATTGTGCCATTGCACTCCAGCCTGGGGAACAAGAGCGAACGCTGTCTCAAAAAAAAAAAAAAAATACAAAAAAACTCCAACTCACAGCCAGCCCACAGGAAGGGTCCCAGCCAGCTAAGCCCAGAGCCAAAGCAGCAAGAACAAACAACACAGTAATCCCCACTGACCAAGCACCACTGCATGCCTGACACTGTGCACATGACCAAACCTGATTCCAATCCTGTCACAGGTCAGGCTACAGAGGCAAAGTGGGGCTGACCCATCTCCTGACCAACTCTATGTCATTGCCTTACCACGAGCCCTGAGAACAGTCTAAACAGGCCCTGATGGGGCCAAGGGAAGAAGAGCACCTTGACTTCCCCTAAGGACAGGCCCTCAAATCCCAGGACAGAAAAACTCAATGCTGTACAGTCCAGGTGGCAGCAGGGCTAGAAGTCAAAGCAGAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTCTATCTATTACAAAGTCAGCGTAGTAAAAGAAAATGATGTATCAGTAAGAGTTATCACAGAAACAAAACCTATTTATGTAGGAATTCACGTCATTGAAACAATGTGATTACAAGTCACTAGGGAAAAAAGTCCTATTGCATAAATTCATAGGAGGGAATTTCCCATTTTACAAGGCTGAGGATTTCTGTAGAGAAACACTCCCAGGATGCAAAATAGTCTTGTGTAGCCAAATCAGTTCAATACCCAGGCAGTCCAACTGCTATGCTCCTCCTACTCACCAGCCTGAACCTGAAGCTCTCCTGCAATAGCCCCGAGGAAGTTCACAGCAGATATCAGCTCCCCACCCACCACTCTGCCCACCTACAGCCCCTTGGCATAGGCTGGGCCTTCCACCTGGAATGTCCATCCCATCCTGTACTGAGACTTCAAAGCCCACCTTCCTCCTCCCTCAAGGCAACACAGAGCCCTAGAGAACCACTTGCTTCTCTTATCAGAGAGCCTGTCACCCTACACTGGCAAGGCTAGCTGATCCCCTAGACCAATAGCAGGACGACTCTGACATAGGGCAGAGTTTGCCAGCCCTTTTCTTGTGAGCCCCTGGATTTTCACCTGCTTCATCAAAACCCTAGACCAGGCTGGGCCAGGATCCCAAGGGTGATCCAGGGTGGCCATACCATCAGGCTGGGGCAGCATACTCCTACCTGGCAGGAGGAAAACTGGGCCACCATAATCACCCGTCCAGTGCCCATCCTCAGCCTGCAGCCCCACGTAAAATGTCATCCCGTTCAGAGCCCCCTCAAAGGCGGTGTGGGCTTTGGGCAAGTCCTTAAAGTAATTCTTCTGCAAAGAGATCGAAAAAAAAAAAAAGAGATAGCTGACGGGACTGTTGCCCGGCCAGAGGAACCCTCTTCACATACAGCCCAAGTCAAAACAGTGAATGTAAATTACTTTAAAAGTTTCAGCTGTTTCCATCAAAAGTCTGAAACTCTTTGATGAGAGCATCACACCTCAGCAAAGTAAAAGAACAGCTGCACATTTTCGTTGCTTTATTTGCCAGTCATGTATTCTTCACAACTTCTCCAAGATGTCTGGAATAAACCAGGCACCCAGACTGTAGGGTGGGGCACGGGTGCCGACCTGGGCCTGGGACTCGGGCCTCTCAAAGAGGGCCCAAGGGGCGGCACAGCCTTTCCCTCGGTGGCCGGGGCTCGGCAGGAGACCCTGTTTACACTGCAGACTCTGACGACCAAAATCTCTTACAATGCACACAACTAAGACAGTGGATCCAAACACTTTTTGTGAATAAAAACAAAGTTACAACTATCTTTGCAACTCTCCTATAAGTCAAAAATTATCTCAAAATAAGGTGCTAAAAAATAAAACATTAGGAGTCTCCTATGCGTGGTTTAGAGATGAAGGGGCTGAAGCGGAGGGGCCCGCGAACGCAGTTCCCGTGGGCGCTCGCCTTGGGGATGGGCGTCGCTGGCCGGGTCCTCCCACCCGCCTTTCTGAGAGAAAACGTGCTCCTCACGGCTCACCCCTCAGGGTCCCGAGCTCGCTGACGCTCCGCGGAAGCAACTTACGGTGTCCAGCCCCAGGGCGTAGGCTTCCAGGCCGGTCTGCTCGCGGCCGGCGCGCTCGTCCTGCAGGTAGGTCCACGTCTGCCGGCCCCTCTCGCAGTTGAGTCGCCAGCGGCCGAGGTCGGTGGCGGGCTCGGTCTTGTAGGGGCCCCCTCGGCGCCGCAGACACCTGAGGACCACCGGCCATCAGCGACCCAGGCCCCGCCCCAACGCCGGCCGCCGGCCCACTGCCCCAGTCGCGCTCTCCTCAGCACCTAGGACCACCCCGCATTCGTCAGGAGCCCGGGGCGAGGGGACTCACGTGCCCTCCGTCATTGCTGCTGCAGTGCTCTACGCCGCCCACTGCCAGCTGCCAGATGTCCGCACCCGGGACCTGCCGCCCAGCCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCGCGCACTACGCAGGCGCAGGCCTCGGCAGGCGCTCAGGCTTAGGTGGGCCGACGCCCACGCAACCAATCAGAGCGCCGCGAGCGTGACCCCGGGGTGTGCCAGGCGACCACAGTGGTGGAGCGCTTGGTGCCCCATGCGGCGTGGGGCGGGGCCTGAGGGAGCGGGGATGGTGGGTGAAGGCGACGGGACGGGGGAGGCGGGTGGGGCCTTATTGGCGGGGCATGAGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCCTGGTGGGTGCGGGTGGGGGCGGGGCTGGTGGGTGGGGCCGAAGGGCGGGGGCGGGGCCTCTCGCGCGCCCTCTAGAGGCTTGCGTCCCGGGAGCCCGGCCTCGTGCGCCGCGCTTTGAGGTGAGCCTCTCTGAGAAATTTGTGAGGAGGGTCCAGCCGCGGGTCGGAAGGAAGGACGTGGGGAGCGAGGCTCGAGCGAGCGACAGCGAGTGCGAAGGTCGGGTGGCAGGGAATTGCTCTCGCGCTGCAGGATTTGCCCGGACGCCGGGGCCGGGGGTGGGGGCGGGAGGCCGCCCTGAGGTGAGGTGGGCGCGGGCCGTCGGCTCCAGTGCGAGACCAGGGGGAGGGCGGGGCGGAGCGGAGGAGCCGAGGGCGCCGCCGGCGTCCCTGGGAAGCTGAGCGCCGCGTAGCTTCGCCGGGGGGAGTGGGGTAGGCGCGGTGAGGCCGTGGGCCCCCACACCTGGCGGA 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Task1_train_28548 | Here is a genetic alteration in LSS (lanosterol synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alopecia-intellectual disability syndrome 4 | GAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTCTATCTATTACAAAGTCAGCGTAGTAAAAGAAAATGATGTATCAGTAAGAGTTATCACAGAAACAAAACCTATTTATGTAGGAATTCACGTCATTGAAACAATGTGATTACAAGTCACTAGGGAAAAAAGTCCTATTGCATAAATTCATAGGAGGGAATTTCCCATTTTACAAGGCTGAGGATTTCTGTAGAGAAACACTCCCAGGATGCAAAATAGTCTTGTGTAGCCAAATCAGTTCAATACCCAGGCAGTCCAACTGCTATGCTCCTCCTACTCACCAGCCTGAACCTGAAGCTCTCCTGCAATAGCCCCGAGGAAGTTCACAGCAGATATCAGCTCCCCACCCACCACTCTGCCCACCTACAGCCCCTTGGCATAGGCTGGGCCTTCCACCTGGAATGTCCATCCCATCCTGTACTGAGACTTCAAAGCCCACCTTCCTCCTCCCTCAAGGCAACACAGAGCCCTAGAGAACCACTTGCTTCTCTTATCAGAGAGCCTGTCACCCTACACTGGCAAGGCTAGCTGATCCCCTAGACCAATAGCAGGACGACTCTGACATAGGGCAGAGTTTGCCAGCCCTTTTCTTGTGAGCCCCTGGATTTTCACCTGCTTCATCAAAACCCTAGACCAGGCTGGGCCAGGATCCCAAGGGTGATCCAGGGTGGCCATACCATCAGGCTGGGGCAGCATACTCCTACCTGGCAGGAGGAAAAGTGGGCCACCATAATCACCCGTCCAGTGCCCATCCTCAGCCTGCAGCCCCACGTAAAATGTCATCCCGTTCAGAGCCCCCTCAAAGGCGGTGTGGGCTTTGGGCAAGTCCTTAAAGTAATTCTTCTGCAAAGAGATCGAAAAAAAAAAAAAGAGATAGCTGACGGGACTGTTGCCCGGCCAGAGGAACCCTCTTCACATACAGCCCAAGTCAAAACAGTGAATGTAAATTACTTTAAAAGTTTCAGCTGTTTCCATCAAAAGTCTGAAACTCTTTGATGAGAGCATCACACCTCAGCAAAGTAAAAGAACAGCTGCACATTTTCGTTGCTTTATTTGCCAGTCATGTATTCTTCACAACTTCTCCAAGATGTCTGGAATAAACCAGGCACCCAGACTGTAGGGTGGGGCACGGGTGCCGACCTGGGCCTGGGACTCGGGCCTCTCAAAGAGGGCCCAAGGGGCGGCACAGCCTTTCCCTCGGTGGCCGGGGCTCGGCAGGAGACCCTGTTTACACTGCAGACTCTGACGACCAAAATCTCTTACAATGCACACAACTAAGACAGTGGATCCAAACACTTTTTGTGAATAAAAACAAAGTTACAACTATCTTTGCAACTCTCCTATAAGTCAAAAATTATCTCAAAATAAGGTGCTAAAAAATAAAACATTAGGAGTCTCCTATGCGTGGTTTAGAGATGAAGGGGCTGAAGCGGAGGGGCCCGCGAACGCAGTTCCCGTGGGCGCTCGCCTTGGGGATGGGCGTCGCTGGCCGGGTCCTCCCACCCGCCTTTCTGAGAGAAAACGTGCTCCTCACGGCTCACCCCTCAGGGTCCCGAGCTCGCTGACGCTCCGCGGAAGCAACTTACGGTGTCCAGCCCCAGGGCGTAGGCTTCCAGGCCGGTCTGCTCGCGGCCGGCGCGCTCGTCCTGCAGGTAGGTCCACGTCTGCCGGCCCCTCTCGCAGTTGAGTCGCCAGCGGCCGAGGTCGGTGGCGGGCTCGGTCTTGTAGGGGCCCCCTCGGCGCCGCAGACACCTGAGGACCACCGGCCATCAGCGACCCAGGCCCCGCCCCAACGCCGGCCGCCGGCCCACTGCCCCAGTCGCGCTCTCCTCAGCACCTAGGACCACCCCGCATTCGTCAGGAGCCCGGGGCGAGGGGACTCACGTGCCCTCCGTCATTGCTGCTGCAGTGCTCTACGCCGCCCACTGCCAGCTGCCAGATGTCCGCACCCGGGACCTGCCGCCCAGCCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCGCGCACTACGCAGGCGCAGGCCTCGGCAGGCGCTCAGGCTTAGGTGGGCCGACGCCCACGCAACCAATCAGAGCGCCGCGAGCGTGACCCCGGGGTGTGCCAGGCGACCACAGTGGTGGAGCGCTTGGTGCCCCATGCGGCGTGGGGCGGGGCCTGAGGGAGCGGGGATGGTGGGTGAAGGCGACGGGACGGGGGAGGCGGGTGGGGCCTTATTGGCGGGGCATGAGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCCTGGTGGGTGCGGGTGGGGGCGGGGCTGGTGGGTGGGGCCGAAGGGCGGGGGCGGGGCCTCTCGCGCGCCCTCTAGAGGCTTGCGTCCCGGGAGCCCGGCCTCGTGCGCCGCGCTTTGAGGTGAGCCTCTCTGAGAAATTTGTGAGGAGGGTCCAGCCGCGGGTCGGAAGGAAGGACGTGGGGAGCGAGGCTCGAGCGAGCGACAGCGAGTGCGAAGGTCGGGTGGCAGGGAATTGCTCTCGCGCTGCAGGATTTGCCCGGACGCCGGGGCCGGGGGTGGGGGCGGGAGGCCGCCCTGAGGTGAGGTGGGCGCGGGCCGTCGGCTCCAGTGCGAGACCAGGGGGAGGGCGGGGCGGAGCGGAGGAGCCGAGGGCGCCGCCGGCGTCCCTGGGAAGCTGAGCGCCGCGTAGCTTCGCCGGGGGGAGTGGGGTAGGCGCGGTGAGGCCGTGGGCCCCCACACCTGGCGGACCACAGGGGCCAGAAGCCCTGGAGCCCCGCCAGGGAAGGGCTGCGTCGCTGGCCAGGACCGAGCGCGGTAGAGCCTCAGCTGCTCACGGGGTCGCTGGAGTTGGGGGTGGCCCCAGGAGAAATTAAAGGTGAAAAGCCTTAGCAGCAGAGGGAAGAGGAAGATGGAGGCAGAGCGAGTGACCGAACTTGGAAGGGACAGCCGGGCGCAACAGGGCAGGGGGCGTCTGACTGTTGGAAACATGGCTGACGTCTGGAGGCTGCAGCCAGTGGTCCGTAAGTCAGGTCAAGGACCCACAGAAGACCCCAGCATGTCTTCACCTGGCCCACAGAAGCCCTGACATCCAGTTACAACTGCCCCAGCCTAGTGAGCATTTCGGCACCCACTCCTCAATTCCTACCCCCAGCCTAACTTCGAAGGGGCGGTGAGCCACAGCAAGCCGGAGGAGAAAGTTGGAAGAGAGAGTGGACAAAAGAATACCCACAGGCACCTTCCCCACAGTGGAATAGCGGGGTTTTAGACAATCAAGGATAATCACCTCTTCCTATCCCAGTTCAGAAACGGATGAAAAAGACACAGCAATAAGATGGGTGGGTATCAAAATATCAGCTTTGCCACAAATTAAAAACCTAGCTTGAAGGACAAGGCTTAAATCTGCAAGCAAGAGGGCAAGCTACTAAATCACCCGTTAAGTCAGACAAACATATCCCCCAGCCTCTAGGCCATGAAACTGCCTCACCAAGCACTATGCAATTGAGTGCCCACCAGAAGACACCCCTCCAGTCAACCCACAGACCCCAGAAAGAGTACCCAGAGGAGCCTGAGCACACTCCACCCTATCTGTTCTCTGAAATTCAATCAAATGAGTCACTCTACTTCTCTGGAAGCAGAAAGAGGCTGGAAGTTTTTCTCCAGGTAAGTTCCTCCATGTAGAAACATGAAGAATAGGGATAAGGGGCTTCAGCCTGGATGGAATCTCACACTGAACCTGGCAAAGCTAGGTGAGGGAAGAGG | GAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTCTATCTATTACAAAGTCAGCGTAGTAAAAGAAAATGATGTATCAGTAAGAGTTATCACAGAAACAAAACCTATTTATGTAGGAATTCACGTCATTGAAACAATGTGATTACAAGTCACTAGGGAAAAAAGTCCTATTGCATAAATTCATAGGAGGGAATTTCCCATTTTACAAGGCTGAGGATTTCTGTAGAGAAACACTCCCAGGATGCAAAATAGTCTTGTGTAGCCAAATCAGTTCAATACCCAGGCAGTCCAACTGCTATGCTCCTCCTACTCACCAGCCTGAACCTGAAGCTCTCCTGCAATAGCCCCGAGGAAGTTCACAGCAGATATCAGCTCCCCACCCACCACTCTGCCCACCTACAGCCCCTTGGCATAGGCTGGGCCTTCCACCTGGAATGTCCATCCCATCCTGTACTGAGACTTCAAAGCCCACCTTCCTCCTCCCTCAAGGCAACACAGAGCCCTAGAGAACCACTTGCTTCTCTTATCAGAGAGCCTGTCACCCTACACTGGCAAGGCTAGCTGATCCCCTAGACCAATAGCAGGACGACTCTGACATAGGGCAGAGTTTGCCAGCCCTTTTCTTGTGAGCCCCTGGATTTTCACCTGCTTCATCAAAACCCTAGACCAGGCTGGGCCAGGATCCCAAGGGTGATCCAGGGTGGCCATACCATCAGGCTGGGGCAGCATACTCCTACCTGGCAGGAGGAAAAGTGGGCCACCATAATCACCCGTCCAGTGCCCATCCTCAGCCTGCAGCCCCACGTAAAATGTCATCCCGTTCAGAGCCCCCTCAAAGGCGGTGTGGGCTTTGGGCAAGTCCTTAAAGTAATTCTTCTGCAAAGAGATCGAAAAAAAAAAAAAGAGATAGCTGACGGGACTGTTGCCCGGCCAGAGGAACCCTCTTCACATACAGCCCAAGTCAAAACAGTGAATGTAAATTACTTTAAAAGTTTCAGCTGTTTCCATCAAAAGTCTGAAACTCTTTGATGAGAGCATCACACCTCAGCAAAGTAAAAGAACAGCTGCACATTTTCGTTGCTTTATTTGCCAGTCATGTATTCTTCACAACTTCTCCAAGATGTCTGGAATAAACCAGGCACCCAGACTGTAGGGTGGGGCACGGGTGCCGACCTGGGCCTGGGACTCGGGCCTCTCAAAGAGGGCCCAAGGGGCGGCACAGCCTTTCCCTCGGTGGCCGGGGCTCGGCAGGAGACCCTGTTTACACTGCAGACTCTGACGACCAAAATCTCTTACAATGCACACAACTAAGACAGTGGATCCAAACACTTTTTGTGAATAAAAACAAAGTTACAACTATCTTTGCAACTCTCCTATAAGTCAAAAATTATCTCAAAATAAGGTGCTAAAAAATAAAACATTAGGAGTCTCCTATGCGTGGTTTAGAGATGAAGGGGCTGAAGCGGAGGGGCCCGCGAACGCAGTTCCCGTGGGCGCTCGCCTTGGGGATGGGCGTCGCTGGCCGGGTCCTCCCACCCGCCTTTCTGAGAGAAAACGTGCTCCTCACGGCTCACCCCTCAGGGTCCCGAGCTCGCTGACGCTCCGCGGAAGCAACTTACGGTGTCCAGCCCCAGGGCGTAGGCTTCCAGGCCGGTCTGCTCGCGGCCGGCGCGCTCGTCCTGCAGGTAGGTCCACGTCTGCCGGCCCCTCTCGCAGTTGAGTCGCCAGCGGCCGAGGTCGGTGGCGGGCTCGGTCTTGTAGGGGTCCCCTCGGCGCCGCAGACACCTGAGGACCACCGGCCATCAGCGACCCAGGCCCCGCCCCAACGCCGGCCGCCGGCCCACTGCCCCAGTCGCGCTCTCCTCAGCACCTAGGACCACCCCGCATTCGTCAGGAGCCCGGGGCGAGGGGACTCACGTGCCCTCCGTCATTGCTGCTGCAGTGCTCTACGCCGCCCACTGCCAGCTGCCAGATGTCCGCACCCGGGACCTGCCGCCCAGCCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCGCGCACTACGCAGGCGCAGGCCTCGGCAGGCGCTCAGGCTTAGGTGGGCCGACGCCCACGCAACCAATCAGAGCGCCGCGAGCGTGACCCCGGGGTGTGCCAGGCGACCACAGTGGTGGAGCGCTTGGTGCCCCATGCGGCGTGGGGCGGGGCCTGAGGGAGCGGGGATGGTGGGTGAAGGCGACGGGACGGGGGAGGCGGGTGGGGCCTTATTGGCGGGGCATGAGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCTGGTGGGTGGGGAGGTGGGGGCGGGGCCTGGTGGGTGCGGGTGGGGGCGGGGCTGGTGGGTGGGGCCGAAGGGCGGGGGCGGGGCCTCTCGCGCGCCCTCTAGAGGCTTGCGTCCCGGGAGCCCGGCCTCGTGCGCCGCGCTTTGAGGTGAGCCTCTCTGAGAAATTTGTGAGGAGGGTCCAGCCGCGGGTCGGAAGGAAGGACGTGGGGAGCGAGGCTCGAGCGAGCGACAGCGAGTGCGAAGGTCGGGTGGCAGGGAATTGCTCTCGCGCTGCAGGATTTGCCCGGACGCCGGGGCCGGGGGTGGGGGCGGGAGGCCGCCCTGAGGTGAGGTGGGCGCGGGCCGTCGGCTCCAGTGCGAGACCAGGGGGAGGGCGGGGCGGAGCGGAGGAGCCGAGGGCGCCGCCGGCGTCCCTGGGAAGCTGAGCGCCGCGTAGCTTCGCCGGGGGGAGTGGGGTAGGCGCGGTGAGGCCGTGGGCCCCCACACCTGGCGGACCACAGGGGCCAGAAGCCCTGGAGCCCCGCCAGGGAAGGGCTGCGTCGCTGGCCAGGACCGAGCGCGGTAGAGCCTCAGCTGCTCACGGGGTCGCTGGAGTTGGGGGTGGCCCCAGGAGAAATTAAAGGTGAAAAGCCTTAGCAGCAGAGGGAAGAGGAAGATGGAGGCAGAGCGAGTGACCGAACTTGGAAGGGACAGCCGGGCGCAACAGGGCAGGGGGCGTCTGACTGTTGGAAACATGGCTGACGTCTGGAGGCTGCAGCCAGTGGTCCGTAAGTCAGGTCAAGGACCCACAGAAGACCCCAGCATGTCTTCACCTGGCCCACAGAAGCCCTGACATCCAGTTACAACTGCCCCAGCCTAGTGAGCATTTCGGCACCCACTCCTCAATTCCTACCCCCAGCCTAACTTCGAAGGGGCGGTGAGCCACAGCAAGCCGGAGGAGAAAGTTGGAAGAGAGAGTGGACAAAAGAATACCCACAGGCACCTTCCCCACAGTGGAATAGCGGGGTTTTAGACAATCAAGGATAATCACCTCTTCCTATCCCAGTTCAGAAACGGATGAAAAAGACACAGCAATAAGATGGGTGGGTATCAAAATATCAGCTTTGCCACAAATTAAAAACCTAGCTTGAAGGACAAGGCTTAAATCTGCAAGCAAGAGGGCAAGCTACTAAATCACCCGTTAAGTCAGACAAACATATCCCCCAGCCTCTAGGCCATGAAACTGCCTCACCAAGCACTATGCAATTGAGTGCCCACCAGAAGACACCCCTCCAGTCAACCCACAGACCCCAGAAAGAGTACCCAGAGGAGCCTGAGCACACTCCACCCTATCTGTTCTCTGAAATTCAATCAAATGAGTCACTCTACTTCTCTGGAAGCAGAAAGAGGCTGGAAGTTTTTCTCCAGGTAAGTTCCTCCATGTAGAAACATGAAGAATAGGGATAAGGGGCTTCAGCCTGGATGGAATCTCACACTGAACCTGGCAAAGCTAGGTGAGGGAAGAGG 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Task1_train_28549 | This sequence variant lies in MCM3AP (minichromosome maintenance complex component 3 associated protein) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | GAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCA | GAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGGCTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCA 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Task1_train_28550 | Assess the clinical impact of this variant on gene MCM3AP (minichromosome maintenance complex component 3 associated protein), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | CCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAGTAAAAATAGACAAAGGAAAAACATGAAAATCCGAACAAAAATTCTGCTTGAGTGCTGGGACTTTGGTACCTAAGCTGTTAGTCCTCTTCCGATGTTCTTTAATTCAACCAACACTGATCAAGCATTTGCTCTGTGCCTGGCACCGTTTTTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAA 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CCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTTTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAGTAAAAATAGACAAAGGAAAAACATGAAAATCCGAACAAAAATTCTGCTTGAGTGCTGGGACTTTGGTACCTAAGCTGTTAGTCCTCTTCCGATGTTCTTTAATTCAACCAACACTGATCAAGCATTTGCTCTGTGCCTGGCACCGTTTTTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAA 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Task1_train_28551 | A mutation found in MCM3AP (minichromosome maintenance complex component 3 associated protein) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | CACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAGTAAAAATAGACAAAGGAAAAACATGAAAATCCGAACAAAAATTCTGCTTGAGTGCTGGGACTTTGGTACCTAAGCTGTTAGTCCTCTTCCGATGTTCTTTAATTCAACCAACACTGATCAAGCATTTGCTCTGTGCCTGGCACCGTTTTTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGC 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CACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGTGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTAATACCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGTGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAGTAAAAATAGACAAAGGAAAAACATGAAAATCCGAACAAAAATTCTGCTTGAGTGCTGGGACTTTGGTACCTAAGCTGTTAGTCCTCTTCCGATGTTCTTTAATTCAACCAACACTGATCAAGCATTTGCTCTGTGCCTGGCACCGTTTTTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGC 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Task1_train_28552 | A mutation in MCM3AP (minichromosome maintenance complex component 3 associated protein), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | TTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGAGCATCCCACCACACCTGCCTGGCTTTTTTTTTATTTTTAGTAGAGACAGGGCCTCCCTATGTTGCCCAGGCTGGCCTTGAACTCCTGAGCTCAAGCAATTTTCCCACCTCCCAAGTTTGCCAAGGTGCCAGGATAACAGGTGTGAGCCAAAGCACCCAGCCAATATTAACTACAAGTGGCAAGTTGTGGAAAACCTTTTCATTTACTCCAGAATATCAGTTCTGTTTGGCAACCTGCAGATCTGACAAGGAGCAAACCTGCAAAAGACCTTCTGACTGTGACATGACTGTGGGTTTAGTCACTGTTTACAGGAGGCCCTGATGTGTGACCAAAGAAATGACCTGGAGCCACAGATCAACCAAGGCAGGTCCCAGGATCTCCCAGGCAGCATCCTCCCCACGCTGTGGCCACTACGGGCTTGTGGCAAGGAATCCTGGCAGCCTCCTTGGAGCCGCTGCCAGAATGGGCAGCAGAGTGTGTGCGAGGTGAGGTGGCGCTCTGTGCGGTGGGCCGCGGTCCTGGTCACATTGCACTGAACGGAATCATGCAGGGCCTAGAACAGCAGGTGCTACAGGGGCTGCTCTGTCCTCATCCCCAAGTTCCGTGGAAGTGGAACAAAATAACCGACTGGAAACCCCAAGACACAGTTTACTCTGCGCAAACCCCAGGGGAGGGACTGGCCTTCCCATTGCCTCTGCAACCCTAGCACACGGCAAAGCACAGACACTGAGGCACCCACTGAAAGGAACTTAGCGCCATCAGCCTCACTCCAGAAACTTCGATTTAAAACATGAAGCATTTCAAAGTCAGAGATTTTGTGCATATGATATGAGATTTTTGCTTTTTAGTTAGCTTTCATGGATGATGATAGTGCTGAATTCAACCTATGTTTTCCCAAAGAGATTTTTCTTATTTGAACCATGGAACAGTATTTTCCATTGCACAGCCTTTCCGGATGGTGACCAACAGTGATAACCCCTATAAAACAGGGCAACACCGGTAACCCCTTCGTGGGGCTGCTGCAAGGGTGACACAGCATCAGCCTGAGACCTCCTTTGAAAAGCTTGGAATAAGAAAGCACCCAAACAGCACAAGAACCACCTGCTTTCTTCCAACTCTGCAAGCACAGCTCATTTACTCACCTGACTGAAGTAACAGTGTAAAAGACAAGCGTTCAGGTAAGAAGCTGACTGGACCAGTTTGAAAAATCTCACAAAATTATTACTGTTCAATGCAGCAAAAGCCTGAACAGCAAATTTCACCTCAGATGAGTTTCTAACAGCAGGATGGAACTGTTGTACTTCTCTGTTAATTAAAGGAGAGAAAAGGGGTTGGAATGTTATTTTAAATAAGACAAAATTTTCATGAAGATAGATCTGATAAATAATAGATTTCACTGGCCAGATGCAGTGGCTCACACCTGTAATCCCAAAACGTGGGGAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATCGCATCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAGTAATAATGATACTGGATTTCAACCATACTGAGAAGGAGGGTCTTACTGGTGAAATGTGCCGTTAAATTCATAGTTTACTAACTACCACGCTTGGATTGGTTTGACAAAGGTTTCCTTCAAAACAATAATGAATAGAATAAACAAATTCAAAAAGCAATTTAGGAATCAGTTATCAAAAAGTTACTTTAAAGTAATGCCAATGGACTGTCAGCTGTGCTGGATGGTAAAGTCTAAAAAACAGAAAACTTAACTCTTTTTGTTTAGAAATGAATTGATTTTGACTGAATTATTCGTGATGGAGAACAAATGCTTGTCACGTAGAAAAAGACAATACAGCAATCTTTCATAACCAGTTTAATTTTTTTTTTTTTTGAGACAGAGTACTTGCTCTATCACCCAGGCTGGAGTGCACTGGCACAATCACAGTTCATTGCAGCTTCAACCTCCTGGCCTCAAGCAACCCTCTCATCTCGGCCTCCCAAAGTGCTGTGATAACAGGCCATGGGCCACCACACCTGGGTTTTTTTTTTTTTTTTTTAAGAGATAGGGTCTTGCTTTGTCACCCAGACTGGAGGACAGTGGCATGATCACAGCTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGAACTACAGGCACACATCACCACACCTGGTTAATTTTATTTATTTATTCATTTTTGTGGAAGGGTCTCACCATGTTGCCCAGGCTATACAAGGCTTAATTTTAAAATTTAAAATCAGCCGGGCATGGAGACTCTAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCGGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATGAGGCGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGTACTCCGGCCTGGGCAACAGAGCAGGACTCGGTCTCAAAAATAAAATGAAATAAAAAATTAAAATCAACCACACATCTAGATATTCTGTCACACAGTTCTTGAGGAAAATACAAAGAAAAAAAAAAGAGGTTCACCATTGATAGGGGATTCTTAGAACTAAAGGGGACACTGTCCACCATAAGTCCAGCTTAACCACAAGCAGAGGGTCCACCACAAGCAGAGGGCCAGAGAGCTCGCCAGACTTCGCATGTAAGTGACTAATTATGGATCAGACCAGGGTTTTACATTCATTCATTCTCACTACCCCATTCTTCGCATTTTTGTTTTACATAATTTTTTCCTCTCTTATTCTGAGATCTTTGACAAAACTATCTGGGAACAGGGAACTGCTAACAACCTTGCAGGGCACCTGGAACTCCCTCTCCTGGTTCACTCACCTGTCTCATGAGGAGGATTCCTTCCTCATTTTCTCACTGGTGAGGAGAAACTATTTTCAGAAATGAACATGTGGGGCCTACGTCAGATGTGCTGGTCCCAGGGCACACCCCCATCGCTCTTCCCCCAGCTCAGCTCAGCCGACTGCAAAGCCAGACCAAGGTCCTCTACTATCATCCCAACATCTGCTACCAGACAGAATGCTGC 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TTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGAGCATCCCACCACACCTGCCTGGCTTTTTTTTTATTTTTAGTAGAGACAGGGCCTCCCTATGTTGCCCAGGCTGGCCTTGAACTCCTGAGCTCAAGCAATTTTCCCACCTCCCAAGTTTGCCAAGGTGCCAGGATAACAGGTGTGAGCCAAAGCACCCAGCCAATATTAACTACAAGTGGCAAGTTGTGGAAAACCTTTTCATTTACTCCAGAATATCAGTTCTGTTTGGCAACCTGCAGATCTGACAAGGAGCAAACCTGCAAAAGACCTTCTGACTGTGACATGACTGTGGGTTTAGTCACTGTTTACAGGAGGCCCTGATGTGTGACCAAAGAAATGACCTGGAGCCACAGATCAACCAAGGCAGGTCCCAGGATCTCCCAGGCAGCATCCTCCCCACGCTGTGGCCACTACGGGCTTGTGGCAAGGAATCCTGGCAGCCTCCTTGGAGCCGCTGCCAGAATGGGCAGCAGAGTGTGTGCGAGGTGAGGTGGCGCTCTGTGCGGTGGGCCGCGGTCCTGGTCACATTGCACTGAACGGAATCATGCAGGGCCTAGAACAGCAGGTGCTACAGGGGCTGCTCTGTCCTCATCCCCAAGTTCCGTGGAAGTGGAACAAAATAACCGACTGGAAACCCCAAGACACAGTTTACTCTGCGCAAACCCCAGGGGAGGGACTGGCCTTCCCATTGCCTCTGCAACCCTAGCACACGGCAAAGCACAGACACTGAGGCACCCACTGAAAGGAACTTAGCGCCATCAGCCTCACTCCAGAAACTTCGATTTAAAACATGAAGCATTTCAAAGTCAGAGATTTTGTGCATATGATATGAGATTTTTGCTTTTTAGTTAGCTTTCATGGATGATGATAGTGCTGAATTCAACCTATGTTTTCCCAAAGAGATTTTTCTTATTTGAACCATGGAACAGTATTTTCCATTGCACAGCCTTTCCGGATGGTGACCAACAGTGATAACCCCTATAAAACAGGGCAACACCGGTAACCCCTTCGTGGGGCTGCTGCAAGGGTGACACAGCATCAGCCTGAGACCTCCTTTGAAAAGCTTGGAATAAGAAAGCACCCAAACAGCACAAGAACCACCTGCTTTCTTCCAACTCTGCAAGCACAGCTCATTTACTCACCTGACTGAAGTAACAGTGTGAAAGACAAGCGTTCAGGTAAGAAGCTGACTGGACCAGTTTGAAAAATCTCACAAAATTATTACTGTTCAATGCAGCAAAAGCCTGAACAGCAAATTTCACCTCAGATGAGTTTCTAACAGCAGGATGGAACTGTTGTACTTCTCTGTTAATTAAAGGAGAGAAAAGGGGTTGGAATGTTATTTTAAATAAGACAAAATTTTCATGAAGATAGATCTGATAAATAATAGATTTCACTGGCCAGATGCAGTGGCTCACACCTGTAATCCCAAAACGTGGGGAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATCGCATCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAGTAATAATGATACTGGATTTCAACCATACTGAGAAGGAGGGTCTTACTGGTGAAATGTGCCGTTAAATTCATAGTTTACTAACTACCACGCTTGGATTGGTTTGACAAAGGTTTCCTTCAAAACAATAATGAATAGAATAAACAAATTCAAAAAGCAATTTAGGAATCAGTTATCAAAAAGTTACTTTAAAGTAATGCCAATGGACTGTCAGCTGTGCTGGATGGTAAAGTCTAAAAAACAGAAAACTTAACTCTTTTTGTTTAGAAATGAATTGATTTTGACTGAATTATTCGTGATGGAGAACAAATGCTTGTCACGTAGAAAAAGACAATACAGCAATCTTTCATAACCAGTTTAATTTTTTTTTTTTTTGAGACAGAGTACTTGCTCTATCACCCAGGCTGGAGTGCACTGGCACAATCACAGTTCATTGCAGCTTCAACCTCCTGGCCTCAAGCAACCCTCTCATCTCGGCCTCCCAAAGTGCTGTGATAACAGGCCATGGGCCACCACACCTGGGTTTTTTTTTTTTTTTTTTAAGAGATAGGGTCTTGCTTTGTCACCCAGACTGGAGGACAGTGGCATGATCACAGCTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGAACTACAGGCACACATCACCACACCTGGTTAATTTTATTTATTTATTCATTTTTGTGGAAGGGTCTCACCATGTTGCCCAGGCTATACAAGGCTTAATTTTAAAATTTAAAATCAGCCGGGCATGGAGACTCTAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCGGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATGAGGCGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGTACTCCGGCCTGGGCAACAGAGCAGGACTCGGTCTCAAAAATAAAATGAAATAAAAAATTAAAATCAACCACACATCTAGATATTCTGTCACACAGTTCTTGAGGAAAATACAAAGAAAAAAAAAAGAGGTTCACCATTGATAGGGGATTCTTAGAACTAAAGGGGACACTGTCCACCATAAGTCCAGCTTAACCACAAGCAGAGGGTCCACCACAAGCAGAGGGCCAGAGAGCTCGCCAGACTTCGCATGTAAGTGACTAATTATGGATCAGACCAGGGTTTTACATTCATTCATTCTCACTACCCCATTCTTCGCATTTTTGTTTTACATAATTTTTTCCTCTCTTATTCTGAGATCTTTGACAAAACTATCTGGGAACAGGGAACTGCTAACAACCTTGCAGGGCACCTGGAACTCCCTCTCCTGGTTCACTCACCTGTCTCATGAGGAGGATTCCTTCCTCATTTTCTCACTGGTGAGGAGAAACTATTTTCAGAAATGAACATGTGGGGCCTACGTCAGATGTGCTGGTCCCAGGGCACACCCCCATCGCTCTTCCCCCAGCTCAGCTCAGCCGACTGCAAAGCCAGACCAAGGTCCTCTACTATCATCCCAACATCTGCTACCAGACAGAATGCTGC 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Task1_train_28553 | A change on Chromosome 21 affects gene MCM3AP (minichromosome maintenance complex component 3 associated protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | AGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGAGCATCCCACCACACCTGCCTGGCTTTTTTTTTATTTTTAGTAGAGACAGGGCCTCCCTATGTTGCCCAGGCTGGCCTTGAACTCCTGAGCTCAAGCAATTTTCCCACCTCCCAAGTTTGCCAAGGTGCCAGGATAACAGGTGTGAGCCAAAGCACCCAGCCAATATTAACTACAAGTGGCAAGTTGTGGAAAACCTTTTCATTTACTCCAGAATATCAGTTCTGTTTGGCAACCTGCAGATCTGACAAGGAGCAAACCTGCAAAAGACCTTCTGACTGTGACATGACTGTGGGTTTAGTCACTGTTTACAGGAGGCCCTGATGTGTGACCAAAGAAATGACCTGGAGCCACAGATCAACCAAGGCAGGTCCCAGGATCTCCCAGGCAGCATCCTCCCCACGCTGTGGCCACTACGGGCTTGTGGCAAGGAATCCTGGCAGCCTCCTTGGAGCCGCTGCCAGAATGGGCAGCAGAGTGTGTGCGAGGTGAGGTGGCGCTCTGTGCGGTGGGCCGCGGTCCTGGTCACATTGCACTGAACGGAATCATGCAGGGCCTAGAACAGCAGGTGCTACAGGGGCTGCTCTGTCCTCATCCCCAAGTTCCGTGGAAGTGGAACAAAATAACCGACTGGAAACCCCAAGACACAGTTTACTCTGCGCAAACCCCAGGGGAGGGACTGGCCTTCCCATTGCCTCTGCAACCCTAGCACACGGCAAAGCACAGACACTGAGGCACCCACTGAAAGGAACTTAGCGCCATCAGCCTCACTCCAGAAACTTCGATTTAAAACATGAAGCATTTCAAAGTCAGAGATTTTGTGCATATGATATGAGATTTTTGCTTTTTAGTTAGCTTTCATGGATGATGATAGTGCTGAATTCAACCTATGTTTTCCCAAAGAGATTTTTCTTATTTGAACCATGGAACAGTATTTTCCATTGCACAGCCTTTCCGGATGGTGACCAACAGTGATAACCCCTATAAAACAGGGCAACACCGGTAACCCCTTCGTGGGGCTGCTGCAAGGGTGACACAGCATCAGCCTGAGACCTCCTTTGAAAAGCTTGGAATAAGAAAGCACCCAAACAGCACAAGAACCACCTGCTTTCTTCCAACTCTGCAAGCACAGCTCATTTACTCACCTGACTGAAGTAACAGTGTAAAAGACAAGCGTTCAGGTAAGAAGCTGACTGGACCAGTTTGAAAAATCTCACAAAATTATTACTGTTCAATGCAGCAAAAGCCTGAACAGCAAATTTCACCTCAGATGAGTTTCTAACAGCAGGATGGAACTGTTGTACTTCTCTGTTAATTAAAGGAGAGAAAAGGGGTTGGAATGTTATTTTAAATAAGACAAAATTTTCATGAAGATAGATCTGATAAATAATAGATTTCACTGGCCAGATGCAGTGGCTCACACCTGTAATCCCAAAACGTGGGGAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATCGCATCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAGTAATAATGATACTGGATTTCAACCATACTGAGAAGGAGGGTCTTACTGGTGAAATGTGCCGTTAAATTCATAGTTTACTAACTACCACGCTTGGATTGGTTTGACAAAGGTTTCCTTCAAAACAATAATGAATAGAATAAACAAATTCAAAAAGCAATTTAGGAATCAGTTATCAAAAAGTTACTTTAAAGTAATGCCAATGGACTGTCAGCTGTGCTGGATGGTAAAGTCTAAAAAACAGAAAACTTAACTCTTTTTGTTTAGAAATGAATTGATTTTGACTGAATTATTCGTGATGGAGAACAAATGCTTGTCACGTAGAAAAAGACAATACAGCAATCTTTCATAACCAGTTTAATTTTTTTTTTTTTTGAGACAGAGTACTTGCTCTATCACCCAGGCTGGAGTGCACTGGCACAATCACAGTTCATTGCAGCTTCAACCTCCTGGCCTCAAGCAACCCTCTCATCTCGGCCTCCCAAAGTGCTGTGATAACAGGCCATGGGCCACCACACCTGGGTTTTTTTTTTTTTTTTTTAAGAGATAGGGTCTTGCTTTGTCACCCAGACTGGAGGACAGTGGCATGATCACAGCTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGAACTACAGGCACACATCACCACACCTGGTTAATTTTATTTATTTATTCATTTTTGTGGAAGGGTCTCACCATGTTGCCCAGGCTATACAAGGCTTAATTTTAAAATTTAAAATCAGCCGGGCATGGAGACTCTAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCGGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATGAGGCGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGTACTCCGGCCTGGGCAACAGAGCAGGACTCGGTCTCAAAAATAAAATGAAATAAAAAATTAAAATCAACCACACATCTAGATATTCTGTCACACAGTTCTTGAGGAAAATACAAAGAAAAAAAAAAGAGGTTCACCATTGATAGGGGATTCTTAGAACTAAAGGGGACACTGTCCACCATAAGTCCAGCTTAACCACAAGCAGAGGGTCCACCACAAGCAGAGGGCCAGAGAGCTCGCCAGACTTCGCATGTAAGTGACTAATTATGGATCAGACCAGGGTTTTACATTCATTCATTCTCACTACCCCATTCTTCGCATTTTTGTTTTACATAATTTTTTCCTCTCTTATTCTGAGATCTTTGACAAAACTATCTGGGAACAGGGAACTGCTAACAACCTTGCAGGGCACCTGGAACTCCCTCTCCTGGTTCACTCACCTGTCTCATGAGGAGGATTCCTTCCTCATTTTCTCACTGGTGAGGAGAAACTATTTTCAGAAATGAACATGTGGGGCCTACGTCAGATGTGCTGGTCCCAGGGCACACCCCCATCGCTCTTCCCCCAGCTCAGCTCAGCCGACTGCAAAGCCAGACCAAGGTCCTCTACTATCATCCCAACATCTGCTACCAGACAGAATGCTGCACTATTGGC 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AGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCGGTGAAGAGCTTTTCTAAAGAAAAATACCCGAATATCTCTTTTGTTTAAAGTTATTAAAAACGGCCAGGCAAGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGCTAGGAGTTCGAGATCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAGTTAGCTGGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTGGGGAGGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAAGTTGCGGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCTAAATAAATAAATAAATAAAGTTATTAAAAATGGTCAACATTCTACTAACGCTCAATCATCGTGTATACAACATTAACTATGTTTTATTTTTGTTTATTTTTTTTGAGAGGGCCTCTGTTGCCCAGGCTGGAGAGTGCAGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGAGCATCCCACCACACCTGCCTGGCTTTTTTTTTATTTTTAGTAGAGACAGGGCCTCCCTATGTTGCCCAGGCTGGCCTTGAACTCCTGAGCTCAAGCAATTTTCCCACCTCCCAAGTTTGCCAAGGTGCCAGGATAACAGGTGTGAGCCAAAGCACCCAGCCAATATTAACTACAAGTGGCAAGTTGTGGAAAACCTTTTCATTTACTCCAGAATATCAGTTCTGTTTGGCAACCTGCAGATCTGACAAGGAGCAAACCTGCAAAAGACCTTCTGACTGTGACATGACTGTGGGTTTAGTCACTGTTTACAGGAGGCCCTGATGTGTGACCAAAGAAATGACCTGGAGCCACAGATCAACCAAGGCAGGTCCCAGGATCTCCCAGGCAGCATCCTCCCCACGCTGTGGCCACTACGGGCTTGTGGCAAGGAATCCTGGCAGCCTCCTTGGAGCCGCTGCCAGAATGGGCAGCAGAGTGTGTGCGAGGTGAGGTGGCGCTCTGTGCGGTGGGCCGCGGTCCTGGTCACATTGCACTGAACGGAATCATGCAGGGCCTAGAACAGCAGGTGCTACAGGGGCTGCTCTGTCCTCATCCCCAAGTTCCGTGGAAGTGGAACAAAATAACCGACTGGAAACCCCAAGACACAGTTTACTCTGCGCAAACCCCAGGGGAGGGACTGGCCTTCCCATTGCCTCTGCAACCCTAGCACACGGCAAAGCACAGACACTGAGGCACCCACTGAAAGGAACTTAGCGCCATCAGCCTCACTCCAGAAACTTCGATTTAAAACATGAAGCATTTCAAAGTCAGAGATTTTGTGCATATGATATGAGATTTTTGCTTTTTAGTTAGCTTTCATGGATGATGATAGTGCTGAATTCAACCTATGTTTTCCCAAAGAGATTTTTCTTATTTGAACCATGGAACAGTATTTTCCATTGCACAGCCTTTCCGGATGGTGACCAACAGTGATAACCCCTATAAAACAGGGCAACACCGGTAACCCCTTCGTGGGGCTGCTGCAAGGGTGACACAGCATCAGCCTGAGACCTCCTTTGAAAAGCTTGGAATAAGAAAGCACCCAAACAGCACAAGAACCACCTGCTTTCTTCCAACTCTGCAAGCACAGCTCATTTACTCACCTGACTGAAGTAACAGTGTAAAAGACAATCGTTCAGGTAAGAAGCTGACTGGACCAGTTTGAAAAATCTCACAAAATTATTACTGTTCAATGCAGCAAAAGCCTGAACAGCAAATTTCACCTCAGATGAGTTTCTAACAGCAGGATGGAACTGTTGTACTTCTCTGTTAATTAAAGGAGAGAAAAGGGGTTGGAATGTTATTTTAAATAAGACAAAATTTTCATGAAGATAGATCTGATAAATAATAGATTTCACTGGCCAGATGCAGTGGCTCACACCTGTAATCCCAAAACGTGGGGAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATCGCATCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAGTAATAATGATACTGGATTTCAACCATACTGAGAAGGAGGGTCTTACTGGTGAAATGTGCCGTTAAATTCATAGTTTACTAACTACCACGCTTGGATTGGTTTGACAAAGGTTTCCTTCAAAACAATAATGAATAGAATAAACAAATTCAAAAAGCAATTTAGGAATCAGTTATCAAAAAGTTACTTTAAAGTAATGCCAATGGACTGTCAGCTGTGCTGGATGGTAAAGTCTAAAAAACAGAAAACTTAACTCTTTTTGTTTAGAAATGAATTGATTTTGACTGAATTATTCGTGATGGAGAACAAATGCTTGTCACGTAGAAAAAGACAATACAGCAATCTTTCATAACCAGTTTAATTTTTTTTTTTTTTGAGACAGAGTACTTGCTCTATCACCCAGGCTGGAGTGCACTGGCACAATCACAGTTCATTGCAGCTTCAACCTCCTGGCCTCAAGCAACCCTCTCATCTCGGCCTCCCAAAGTGCTGTGATAACAGGCCATGGGCCACCACACCTGGGTTTTTTTTTTTTTTTTTTAAGAGATAGGGTCTTGCTTTGTCACCCAGACTGGAGGACAGTGGCATGATCACAGCTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGAACTACAGGCACACATCACCACACCTGGTTAATTTTATTTATTTATTCATTTTTGTGGAAGGGTCTCACCATGTTGCCCAGGCTATACAAGGCTTAATTTTAAAATTTAAAATCAGCCGGGCATGGAGACTCTAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCGGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATGAGGCGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGTACTCCGGCCTGGGCAACAGAGCAGGACTCGGTCTCAAAAATAAAATGAAATAAAAAATTAAAATCAACCACACATCTAGATATTCTGTCACACAGTTCTTGAGGAAAATACAAAGAAAAAAAAAAGAGGTTCACCATTGATAGGGGATTCTTAGAACTAAAGGGGACACTGTCCACCATAAGTCCAGCTTAACCACAAGCAGAGGGTCCACCACAAGCAGAGGGCCAGAGAGCTCGCCAGACTTCGCATGTAAGTGACTAATTATGGATCAGACCAGGGTTTTACATTCATTCATTCTCACTACCCCATTCTTCGCATTTTTGTTTTACATAATTTTTTCCTCTCTTATTCTGAGATCTTTGACAAAACTATCTGGGAACAGGGAACTGCTAACAACCTTGCAGGGCACCTGGAACTCCCTCTCCTGGTTCACTCACCTGTCTCATGAGGAGGATTCCTTCCTCATTTTCTCACTGGTGAGGAGAAACTATTTTCAGAAATGAACATGTGGGGCCTACGTCAGATGTGCTGGTCCCAGGGCACACCCCCATCGCTCTTCCCCCAGCTCAGCTCAGCCGACTGCAAAGCCAGACCAAGGTCCTCTACTATCATCCCAACATCTGCTACCAGACAGAATGCTGCACTATTGGC 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Task1_train_28554 | A sequence alteration has been identified in PCNT (pericentrin) on Chromosome 21. Is it disease-inducing or harmless? | Pathogenic; Microcephalic osteodysplastic primordial dwarfism type II | GGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACAGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGACAGAAGCATCCCAGACCGCACGTCCACGAGGCCTAGCGAGAGGCTGGGAGACACCATCCTCTTCCTGCCACACAACTCCTGTGAATGTGTGGCTGAGGCGTGACTTGGTGTTGGACAGACATCTTGTGAAATGGCTGGCTGGTGCACCCTGTGCTCCAGGGGAGGGGCGGAGCCTGTGTGCTGCTCCCGGGTGATTGACGCTGTGCGGCCACATCGCACACCTGCGGGACGGGTTTGCCGTGTTCCTAATGTGATGCCTTTTACACATCAGAAATGGCATCAGGAAGACCTCACCTAGGAAAGCCCGTGTCCCTGAGTGGGCTCCACGTGGTTGTCTTGTCTGTGGCCTCAGCTTCCTGTGCTCACATGGGCATGAGGATCATGTCTTCCGGCCCCGTGGGGACAGGCAGCCGTGGGCCGAGGTGTGCAAACTGGTGGGCGGCCCCTCAGCAGCATCCAGGGTGGGGGTTCTTATGCCGTGACCAGCTTGCCTGATGATGGGTGTCTCCTGTCTCAGAGGGGCCCTCCAGGACGCCCTGCGCAGGCTGCTGGGTTTGTTTGGAGAGACGCTGAGGGCAGCCGTCACCCTGAGGAGCCGGATCGGGGAGCGCGTGGGGCTCTGCCTGGATGACGCGGGCGCAGGCCTGGCCCTGTCGACAGGTGAGTGTGCCGGGACCAGCTGCCCAGCCCTGTGCTTGCAGCCCCTCTGTGGTCCTGGAGCTCTCTGAGAGGAGCCTCCGTATTGGGCGATGCCCTTGGGAGCACTGCCGTCCTGGTTTCCTGCTAGTTTCCGCACTTACAGAAGGCCGAGACCGGGGTTTGGGCTAAATTTGTCAGCTCCCGTGGACGTGGCGCTGACTCATCTCGGCTGGGGCGACGTTCTGAGTTCTGTGGCTTCCTTGTCGTCTTGGCTGCCATGGCCGCGGCCGGCTTGCTCACTGAGCCGCGTGTGCCGGCATCTGCTCATCTTGTAGCTCCGGCGCTGGAGGAGACATGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGCGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTGCGGGAGTGTGAGCAGCCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGGCAGGTGAGGCCCAGGCTCCCGGGGTCCTGTGGAGATGTGAACAACTGAGTAGCTGATGATGCCACACGAGCCTGGTGGATGCCGGTGCCAACGACGCTCGCACGGGTTTCTCCCCAAGGAGGAGGCTTTTCTGAACCAGATCTTTGAGGAAGTGGGCTTGCTACGAATGAGAGAATCTGTTTGTTTAATTTGGATAATAAACAGGCCCATTTTCTTTACTTCATGCACTGTTGCAATTCCATGTGGAGTGTTTTCATATTTAGAGATTATCACTAAGAAAGGAAATTTTTTGTAACCGTTTTAGAACATTTTAGACAATTAAAAAAGACATTAAGTAGGAATACACGGAAAGCAATCAAAGATCTTTTTTTCAGCCAGGCACAGCGGCTCACTCCTGCAGTCCCAGCACTTTGGGAGGCTAAGGTAGGAGGTTCACTTCAGCCTACTTCAGCCCACGAGCTCATCTTGTAGCTCTGGCGCTGGAGGAGATGTGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGTGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTACGGGAGTGTGAGCAACCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGCCAGCCTGGGCAACATAGCGAGACCTCATTTTAAGTTAGCCAGGCGTGGTGGCATGCGTCTGCGGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGGATTGCTTGATCCTGGGAGGCTGAGGCTGCCGTGAGTTGTGGTTGCACCACTGCACTCCAGCCTGGGTGCAGAGCAAGACCCTATCTCAAAAATGAAAATAAAAATTCTTTTTTGCTAAGTTTTGAGTTCAGAGGTAACTCTGGGTCTCAGCCTGTAGATGGCCTGGGAGCCCCAGACTGGACACAGTTGCCAGGGGAGTGTCTGGAGGAAGGGAGAGGGGCCCAGGGCTGAACTGGGAGGCTGAGGAGGGGTCCTCATTGGAGACTGTGGCCACAGTGTCTCGGAGGGTGGCTGAGATGTGCTCAGGTCCCGTCACCCTGGCCTGGCCCTGCCTGGGTGGTGACGGCCTGAAGGGTCTGGGGGTAGAAGTGGCGTTCTCTTGGTCTTAATGTAGGCTTCAGTTATTTTTGATCTGGAGTTTTGATTTGCAAATGTGTTTTAACAGCTGGAAGAAGCACGCCAAATTCATTCTCGTTTTGAAAAAGAATTTAGTTTTAAGAATGAGGAGACAGCACAGGTTGTCAGGAAGCACCAGGAGCTGCTGGAGTGTTTGAAGGAGGAGAGCGCAGCAAAGGCAGAGCTGGCGCTGGAGCTGCACAAGACTCAGGGTGAGCAGCATGAGGCCTCGGGGCACCTGGAGCACAGGCACGGGGAGCAGGCCTGGCCTCACTGAGGGAAGGAAGCCTTCAGAATAGGGTTTTTAAAGTGAAATGTAAAAACAAAGCCAACATGGGAGGCACCCATGGTTTGGGAGGAATGGGGTGGTCGGGAGCTGCTGCGGCCAGCAGGGCTGTTGGAGGCCTACACCTGGGTCCTGGAAGCTGCTGGCTCTTAGCTCTGCTGCTCTCAGGGGCAGTGGCCCCGTCCCTTCCTCCAAGCAGGCTCTCCTCAGTTACACCCAGGACTGGCTTTGTCAGAGCATCTGTGTCTCCCACAAAGGTACCCTTGAGGGATTCAAGGTGGAGACAGCAGATCTGAAGGAGGTGCTGGCCGGGAAGGAGGATTCCGAGCACCGTCTGGTGCTGGAGCTGGAGAGCCTGAGACGGCAGCTGCAGCAGGCGGCCCAGGAGCAGGCGGCGCTGAGGGAGGAGTGCACCCGTCTGTGGAGTCGGGGGGAGGCCACAGCCACGGACGCCGAGGCCAGAGAAGCTGGTAAGGAGCGCGGGCTGTGGAGGGTGGTGCGAGCTGTGGGGCGCGGATACAGCTGCCACGGTTTCCCCAGCTCCCAAGGACACTCAGTGTCTCTAGAGGGTC 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GGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACAGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGACAGAAGCATCCCAGACCGCACGTCCACGAGGCCTAGCGAGAGGCTGGGAGACACCATCCTCTTCCTGCCACACAACTCCTGTGAATGTGTGGCTGAGGCGTGACTTGGTGTTGGACAGACATCTTGTGAAATGGCTGGCTGGTGCACCCTGTGCTCCAGGGGAGGGGCGGAGCCTGTGTGCTGCTCCCGGGTGATTGACGCTGTGCGGCCACATCGCACACCTGCGGGACGGGTTTGCCGTGTTCCTAATGTGATGCCTTTTACACATCAGAAATGGCATCAGGAAGACCTCACCTAGGAAAGCCCGTGTCCCTGAGTGGGCTCCACGTGGTTGTCTTGTCTGTGGCCTCAGCTTCCTGTGCTCACATGGGCATGAGGATCATGTCTTCCGGCCCCGTGGGGACAGGCAGCCGTGGGCCGAGGTGTGCAAACTGGTGGGCGGCCCCTCAGCAGCATCCAGGGTGGGGGTTCTTATGCCGTGACCAGCTTGCCTGATGATGGGTGTCTCCTGTCTCAGAGGGGCCCTCCAGGACGCCCTGCGCAGGCTGCTGGGTTTGTTTGGAGAGACGCTGAGGGCAGCCGTCACCCTGAGGAGCCGGATCGGGGAGCGCGTGGGGCTCTGCCTGGATGACGCGGGCGCAGGCCTGGCCCTGTCGACAGGTGAGTGTGCCGGGACCAGCTGCCCAGCCCTGTGCTTGCAGCCCCTCTGTGGTCCTGGAGCTCTCTGAGAGGAGCCTCCGTATTGGGCGATGCCCTTGGGAGCACTGCCGTCCTGGTTTCCTGCTAGTTTCCGCACTTACAGAAGGCCGAGACCGGGGTTTGGGCTAAATTTGTCAGCTCCCGTGGACGTGGCGCTGACTCATCTCGGCTGGGGCGACGTTCTGAGTTCTGTGGCTTCCTTGTCGTCTTGGCTGCCATGGCCGCGGCCGGCTTGCTCACTGAGCCGCGTGTGCCGGCATCTGCTCATCTTGTAGCTCCGGCGCTGGAGGAGACATGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGCGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTGCGGGAGTGTGAGCAGCCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGGCACGTGAGGCCCAGGCTCCCGGGGTCCTGTGGAGATGTGAACAACTGAGTAGCTGATGATGCCACACGAGCCTGGTGGATGCCGGTGCCAACGACGCTCGCACGGGTTTCTCCCCAAGGAGGAGGCTTTTCTGAACCAGATCTTTGAGGAAGTGGGCTTGCTACGAATGAGAGAATCTGTTTGTTTAATTTGGATAATAAACAGGCCCATTTTCTTTACTTCATGCACTGTTGCAATTCCATGTGGAGTGTTTTCATATTTAGAGATTATCACTAAGAAAGGAAATTTTTTGTAACCGTTTTAGAACATTTTAGACAATTAAAAAAGACATTAAGTAGGAATACACGGAAAGCAATCAAAGATCTTTTTTTCAGCCAGGCACAGCGGCTCACTCCTGCAGTCCCAGCACTTTGGGAGGCTAAGGTAGGAGGTTCACTTCAGCCTACTTCAGCCCACGAGCTCATCTTGTAGCTCTGGCGCTGGAGGAGATGTGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGTGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTACGGGAGTGTGAGCAACCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGCCAGCCTGGGCAACATAGCGAGACCTCATTTTAAGTTAGCCAGGCGTGGTGGCATGCGTCTGCGGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGGATTGCTTGATCCTGGGAGGCTGAGGCTGCCGTGAGTTGTGGTTGCACCACTGCACTCCAGCCTGGGTGCAGAGCAAGACCCTATCTCAAAAATGAAAATAAAAATTCTTTTTTGCTAAGTTTTGAGTTCAGAGGTAACTCTGGGTCTCAGCCTGTAGATGGCCTGGGAGCCCCAGACTGGACACAGTTGCCAGGGGAGTGTCTGGAGGAAGGGAGAGGGGCCCAGGGCTGAACTGGGAGGCTGAGGAGGGGTCCTCATTGGAGACTGTGGCCACAGTGTCTCGGAGGGTGGCTGAGATGTGCTCAGGTCCCGTCACCCTGGCCTGGCCCTGCCTGGGTGGTGACGGCCTGAAGGGTCTGGGGGTAGAAGTGGCGTTCTCTTGGTCTTAATGTAGGCTTCAGTTATTTTTGATCTGGAGTTTTGATTTGCAAATGTGTTTTAACAGCTGGAAGAAGCACGCCAAATTCATTCTCGTTTTGAAAAAGAATTTAGTTTTAAGAATGAGGAGACAGCACAGGTTGTCAGGAAGCACCAGGAGCTGCTGGAGTGTTTGAAGGAGGAGAGCGCAGCAAAGGCAGAGCTGGCGCTGGAGCTGCACAAGACTCAGGGTGAGCAGCATGAGGCCTCGGGGCACCTGGAGCACAGGCACGGGGAGCAGGCCTGGCCTCACTGAGGGAAGGAAGCCTTCAGAATAGGGTTTTTAAAGTGAAATGTAAAAACAAAGCCAACATGGGAGGCACCCATGGTTTGGGAGGAATGGGGTGGTCGGGAGCTGCTGCGGCCAGCAGGGCTGTTGGAGGCCTACACCTGGGTCCTGGAAGCTGCTGGCTCTTAGCTCTGCTGCTCTCAGGGGCAGTGGCCCCGTCCCTTCCTCCAAGCAGGCTCTCCTCAGTTACACCCAGGACTGGCTTTGTCAGAGCATCTGTGTCTCCCACAAAGGTACCCTTGAGGGATTCAAGGTGGAGACAGCAGATCTGAAGGAGGTGCTGGCCGGGAAGGAGGATTCCGAGCACCGTCTGGTGCTGGAGCTGGAGAGCCTGAGACGGCAGCTGCAGCAGGCGGCCCAGGAGCAGGCGGCGCTGAGGGAGGAGTGCACCCGTCTGTGGAGTCGGGGGGAGGCCACAGCCACGGACGCCGAGGCCAGAGAAGCTGGTAAGGAGCGCGGGCTGTGGAGGGTGGTGCGAGCTGTGGGGCGCGGATACAGCTGCCACGGTTTCCCCAGCTCCCAAGGACACTCAGTGTCTCTAGAGGGTC 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Task1_train_28555 | Here is a mutation in IL17RA (interleukin 17 receptor A) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Immunodeficiency 51 | TGAGGGTCAGCATCGGGTGATAGAGAAGGCTCCGGCTGCCCTGAGCCACAGGGGTGGACCCCAGCCCCACCTCATTAGCCTTGTAGTCACAGGCCAGTTACTTAATACACCATGGATTCACTTTTCTGTAAAATGTACTGATAATGCCTCCCTCTAAGGGTGTGACGAAGGTTAAATGAGTAGCTGAGGAAGGTGCTTGCTGGTGGGGATTAGTACATACCAGTGTCTTCTCCCACCTGCAGCCCTCTGCTGGCCAAGTCCTAAGCCGGGAGAACACAGGCCTTCCGGTTGGGGCTTCAGCCCTTGCCTGCCCCACCATGACCCTAGGCTGCTCCTTCCGTCATCTGGGAAGCTGTTTCCACCCTTCCCTAGGCTCGTCAGGATTAGGTGTTAATCATTATTAATTATTATGTGGTAGAAAGAAAACCAGCCAGGCATGGGAGGACCTATGGGAGGTTCCAATAACATTCAGTAGCATCTCGGCCAGTGCTCCACAGGCGGTGCAGCTCTCTAAAGGTTTGGGGCTGGGCGGCGGCGGCGCTTTTGGTTTCCTTTCTGCTGTTGCGCTTCTGTTTTCCGAAGTGTCCTGCACCACAGGGTGAAGGCAAGAGGAGCCTCGCTGTTATTTGGCTGTCTTGTGACAGTTCTGGGGAAGAGCTGAAAGGGTTAGGATTGAGATTAAGGTTCTAAGTCGTTTGCTCAGTCATCTGTGGATCTCAATCCTCCCAGCTGTCACTAAGGAGTTAACCCCCGCAGAGCAGTTTTTTCATCACATCTCTGAGGGGAACAATTGCTTAAGTATGTGGGTTCCCCTTCCTCACCTCAAAAATACCAGGAGGAAATGTTGCAAGCAGCCTGGTGGGGCTGCTTCTGGAAAGAAGTGTGGTAAGATGCATGTCTTCTGTAAAGACACTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGACCCAGGACTCATGCCTGTGCGACCACCTAGCACGGCCTCGCTGCTCAGTCTCGGGGCTGCCCCCTTACCCTTCACCCTTTGTCAGGGATGGGGCAGACACCCTGTGAGCTGGTTTCTATTTCTCTTCCCAAAGAACCACTCCAGTGTATTTCTTTTCCTTTCCAGGGCCTGGAAGTGAAAAATACAGTGATGACACCAAATACACCGGTCAGTATTTCCTGGTTTGCATGTTTGCTTATTTTTAAAGCAGTGGAGGGTTCTCCTGGGATAAGTGCGTGGGTCGCCTCCTGTGCTCTAACTCCCAAGTCCCTTCAGGAGACCCCACCTTAGAAACCCCCTTCCAGTACCCCACTCAGAAGGGCCCCCAATAACAAGGCCTGGGTGCCATTTTTTGAATCACTCAGACAAGGAAAGAAAGGTAAGTATTTTGTGAACAGAGGTCCTCCCTGGAGCAGACCAACAGAGCTTGGTGCCTCTTTTTCTTTTCTTAATTAAAGTATAGGCTAAAGACCAGCTAGGAACGTTGAGAGATTCTTTTTCCCACAAGGCAGCAGACTGATTTTTTTCAGGCAGCCAAAGGTGGAATAGTAACATCTGGGTTTTTCCAACAGGCCTCAGTTGGGTTTCTCAGCTTAGGGAGGGAGCCAAGCTCTGTGTCCTGGTCCAGGCCCCTCCTGGGCTGGCAGGCACAGAGCTGCCCTGGGCCCTGGGGTGAGGGTCAGCATGTGTGGTCTTGTTTCCTTAGATGGCCTGCCTGCGGCTGACCTGATCCCCCCACCGCTGAAGCCCAGGAAGGTCTGGATCATCTACTCAGCCGACCACCCCCTCTACGTGGACGTGGTCCTGAAATTCGCCCAGTTCCTGCTCACCGCCTGCGGCACGGAAGTGGCCCTGGACCTGCTGGAAGAGCAGGCCATCTCGGAGGCAGGAGTCATGACCTGGGTGGGCCGTCAGAAGCAGGAGATGGTGGAGAGCAACTCTAAGATCATCGTCCTGTGCTCCCGCGGCACGCGCGCCAAGTGGCAGGCGCTCCTGGGCCGGGGGGCGCCTGTGCGGCTGCGCTGCGACCACGGAAAGCCCGTGGGGGACCTGTTCACTGCAGCCATGAACATGATCCTCCCGGACTTCAAGAGGCCAGCCTGCTTCGGCACCTACGTAGTCTGCTACTTCAGCGAGGTCAGCTGTGACGGCGACGTCCCCGACCTGTTCGGCGCGGCGCCGCGGTACCCGCTCATGGACAGGTTCGAGGAGGTGTACTTCCGCATCCAGGACCTGGAGATGTTCCAGCCGGGCCGCATGCACCGCGTAGGGGAGCTGTCGGGGGACAACTACCTGCGGAGCCCGGGCGGCAGGCAGCTCCGCGCCGCCCTGGACAGGTTCCGGGACTGGCAGGTCCGCTGTCCCGACTGGTTCGAATGTGAGAACCTCTACTCAGCAGATGACCAGGATGCCCCGTCCCTGGACGAAGAGGTGTTTGAGGAGCCACTGCTGCCTCCGGGAACCGGCATCGTGAAGCGGGCGCCCCTGGTGCGCGAGCCTGGCTCCCAGGCCTGCCTGGCCATAGACCCGCTGGTCGGGGAGGAAGGAGGAGCAGCAGTGGCAAAGCTGGAACCTCACCTGCAGCCCCGGGGTCAGCCAGCGCCGCAGCCCCTCCACACCCTGGTGCTCGCCGCAGAGGAGGGGGCCCTGGTGGCCGCGGTGGAGCCTGGGCCCCTGGCTGACGGTGCCGCAGTCCGGCTGGCACTGGCGGGGGAGGGCGAGGCCTGCCCGCTGCTGGGCAGCCCGGGCGCTGGGCGAAATAGCGTCCTCTTCCTCCCCGTGGACCCCGAGGACTCGCCCCTTGGCAGCAGCACCCCCATGGCGTCTCCTGACCTCCTTCCAGAGGACGTGAGGGAGCACCTCGAAGGCTTGATGCTCTCGCTCTTCGAGCAGAGTCTGAGCTGCCAGGCCCAGGGGGGCTGCAGTAGACCCGCCATGGTCCTCACAGACCCACACACGCCCTACGAGGAGGAGCAGCGGCAGTCAGTGCAGTCTGACCAGGGCTACATCTCCAGGAGCTCCCCGCAGCCCCCCGAGGGACTCACGGAAATGGAGGAAGAGGAGGAAGAGGAGCAGGACCCAGGGAAGCCGGCCCTGCCACTCTCTCCCGAGGACCTGGAGAGCCTGAGGAGCCTCCAGCGGCAGCTGCTTTTCCGCCAGCTGCAGAAGAACTCGGGCTGGGACACGATGGGGTCAGAGTCAGAGGGGCCCAGTGCATGAGGGCGGCTCCCCAGGGACCGCCCAGATCCCAGCTTTGAGAGAGGAGTGTGTGTGCACGTATTCATCTGTGTGTACATGTCTGCATGTGTATATGTTCGTGTGTGAAATGTAGGCTTTAAAATGTAAATGTCTGGATTTTAATCCCAGGCATCCCTCCTAACTTTTCTTTGTGCAGCGGTCTGGTTATCGTCTATCCCCAGGGGAATCCACACAGCCCGCTCCCAGGAGCTAATGGTAGAGCGTCCTTGAGGCTCCATTATTCGTTCATTCAGCATTTATTGTGCACCTACTATGTGGCGGGCATTTGGGATACCAAGATAAATTGCATGCGGCATGGCCCCAGCCATGAAGGAACTTAACCGCTAGTGCCGAGGACACGTTAAACGAACAGGATGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCAGGTGGATCACTCTGAGGTCAGGAGTTTGAGCCAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATAGAAAAATTAGCCGGGCATGGTGACACATGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGG 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TGAGGGTCAGCATCGGGTGATAGAGAAGGCTCCGGCTGCCCTGAGCCACAGGGGTGGACCCCAGCCCCACCTCATTAGCCTTGTAGTCACAGGCCAGTTACTTAATACACCATGGATTCACTTTTCTGTAAAATGTACTGATAATGCCTCCCTCTAAGGGTGTGACGAAGGTTAAATGAGTAGCTGAGGAAGGTGCTTGCTGGTGGGGATTAGTACATACCAGTGTCTTCTCCCACCTGCAGCCCTCTGCTGGCCAAGTCCTAAGCCGGGAGAACACAGGCCTTCCGGTTGGGGCTTCAGCCCTTGCCTGCCCCACCATGACCCTAGGCTGCTCCTTCCGTCATCTGGGAAGCTGTTTCCACCCTTCCCTAGGCTCGTCAGGATTAGGTGTTAATCATTATTAATTATTATGTGGTAGAAAGAAAACCAGCCAGGCATGGGAGGACCTATGGGAGGTTCCAATAACATTCAGTAGCATCTCGGCCAGTGCTCCACAGGCGGTGCAGCTCTCTAAAGGTTTGGGGCTGGGCGGCGGCGGCGCTTTTGGTTTCCTTTCTGCTGTTGCGCTTCTGTTTTCCGAAGTGTCCTGCACCACAGGGTGAAGGCAAGAGGAGCCTCGCTGTTATTTGGCTGTCTTGTGACAGTTCTGGGGAAGAGCTGAAAGGGTTAGGATTGAGATTAAGGTTCTAAGTCGTTTGCTCAGTCATCTGTGGATCTCAATCCTCCCAGCTGTCACTAAGGAGTTAACCCCCGCAGAGCAGTTTTTTCATCACATCTCTGAGGGGAACAATTGCTTAAGTATGTGGGTTCCCCTTCCTCACCTCAAAAATACCAGGAGGAAATGTTGCAAGCAGCCTGGTGGGGCTGCTTCTGGAAAGAAGTGTGGTAAGATGCATGTCTTCTGTAAAGACACTTCTGGGGAAGAGCTTTTCCTCATGTGGAGTCAGTTTGGGGTGGCCAAATTTCAGGGAGACAGGGCAGACCAGGACCGTAATGAGGAACCAGAATGGACACCACCCCCTGCCCCCCGGCACTGGGGGTCCCAGCTGGATCAGTGCTACAAAATAACTGTGATCCCAATTGATTATGTACAACGTGCCAGGCACGTCACATACACACACTCATTTAATACCCATTAAACAAGAGCAAATACAGACCCACCTCACAGAGGAAGAAGCTGCATTTCAGAGGCACTAGTAACTGCTCCAGGTCATAGTGCTCGTAGTGGCAGACCCAGGACTCATGCCTGTGCGACCACCTAGCACGGCCTCGCTGCTCAGTCTCGGGGCTGCCCCCTTACCCTTCACCCTTTGTCAGGGATGGGGCAGACACCCTGTGAGCTGGTTTCTATTTCTCTTCCCAAAGAACCACTCCAGTGTATTTCTTTTCCTTTCCAGGGCCTGGAAGTGAAAAATACAGTGATGACACCAAATACACCGGTCAGTATTTCCTGGTTTGCATGTTTGCTTATTTTTAAAGCAGTGGAGGGTTCTCCTGGGATAAGTGCGTGGGTCGCCTCCTGTGCTCTAACTCCCAAGTCCCTTCAGGAGACCCCACCTTAGAAACCCCCTTCCAGTACCCCACTCAGAAGGGCCCCCAATAACAAGGCCTGGGTGCCATTTTTTGAATCACTCAGACAAGGAAAGAAAGGTAAGTATTTTGTGAACAGAGGTCCTCCCTGGAGCAGACCAACAGAGCTTGGTGCCTCTTTTTCTTTTCTTAATTAAAGTATAGGCTAAAGACCAGCTAGGAACGTTGAGAGATTCTTTTTCCCACAAGGCAGCAGACTGATTTTTTTCAGGCAGCCAAAGGTGGAATAGTAACATCTGGGTTTTTCCAACAGGCCTCAGTTGGGTTTCTCAGCTTAGGGAGGGAGCCAAGCTCTGTGTCCTGGTCCAGGCCCCTCCTGGGCTGGCAGGCACAGAGCTGCCCTGGGCCCTGGGGTGAGGGTCAGCATGTGTGGTCTTGTTTCCTTAGATGGCCTGCCTGCGGCTGACCTGATCCCCCCACCGCTGAAGCCCAGGAAGGTCTGGATCATCTACTCAGCCAACCACCCCCTCTACGTGGACGTGGTCCTGAAATTCGCCCAGTTCCTGCTCACCGCCTGCGGCACGGAAGTGGCCCTGGACCTGCTGGAAGAGCAGGCCATCTCGGAGGCAGGAGTCATGACCTGGGTGGGCCGTCAGAAGCAGGAGATGGTGGAGAGCAACTCTAAGATCATCGTCCTGTGCTCCCGCGGCACGCGCGCCAAGTGGCAGGCGCTCCTGGGCCGGGGGGCGCCTGTGCGGCTGCGCTGCGACCACGGAAAGCCCGTGGGGGACCTGTTCACTGCAGCCATGAACATGATCCTCCCGGACTTCAAGAGGCCAGCCTGCTTCGGCACCTACGTAGTCTGCTACTTCAGCGAGGTCAGCTGTGACGGCGACGTCCCCGACCTGTTCGGCGCGGCGCCGCGGTACCCGCTCATGGACAGGTTCGAGGAGGTGTACTTCCGCATCCAGGACCTGGAGATGTTCCAGCCGGGCCGCATGCACCGCGTAGGGGAGCTGTCGGGGGACAACTACCTGCGGAGCCCGGGCGGCAGGCAGCTCCGCGCCGCCCTGGACAGGTTCCGGGACTGGCAGGTCCGCTGTCCCGACTGGTTCGAATGTGAGAACCTCTACTCAGCAGATGACCAGGATGCCCCGTCCCTGGACGAAGAGGTGTTTGAGGAGCCACTGCTGCCTCCGGGAACCGGCATCGTGAAGCGGGCGCCCCTGGTGCGCGAGCCTGGCTCCCAGGCCTGCCTGGCCATAGACCCGCTGGTCGGGGAGGAAGGAGGAGCAGCAGTGGCAAAGCTGGAACCTCACCTGCAGCCCCGGGGTCAGCCAGCGCCGCAGCCCCTCCACACCCTGGTGCTCGCCGCAGAGGAGGGGGCCCTGGTGGCCGCGGTGGAGCCTGGGCCCCTGGCTGACGGTGCCGCAGTCCGGCTGGCACTGGCGGGGGAGGGCGAGGCCTGCCCGCTGCTGGGCAGCCCGGGCGCTGGGCGAAATAGCGTCCTCTTCCTCCCCGTGGACCCCGAGGACTCGCCCCTTGGCAGCAGCACCCCCATGGCGTCTCCTGACCTCCTTCCAGAGGACGTGAGGGAGCACCTCGAAGGCTTGATGCTCTCGCTCTTCGAGCAGAGTCTGAGCTGCCAGGCCCAGGGGGGCTGCAGTAGACCCGCCATGGTCCTCACAGACCCACACACGCCCTACGAGGAGGAGCAGCGGCAGTCAGTGCAGTCTGACCAGGGCTACATCTCCAGGAGCTCCCCGCAGCCCCCCGAGGGACTCACGGAAATGGAGGAAGAGGAGGAAGAGGAGCAGGACCCAGGGAAGCCGGCCCTGCCACTCTCTCCCGAGGACCTGGAGAGCCTGAGGAGCCTCCAGCGGCAGCTGCTTTTCCGCCAGCTGCAGAAGAACTCGGGCTGGGACACGATGGGGTCAGAGTCAGAGGGGCCCAGTGCATGAGGGCGGCTCCCCAGGGACCGCCCAGATCCCAGCTTTGAGAGAGGAGTGTGTGTGCACGTATTCATCTGTGTGTACATGTCTGCATGTGTATATGTTCGTGTGTGAAATGTAGGCTTTAAAATGTAAATGTCTGGATTTTAATCCCAGGCATCCCTCCTAACTTTTCTTTGTGCAGCGGTCTGGTTATCGTCTATCCCCAGGGGAATCCACACAGCCCGCTCCCAGGAGCTAATGGTAGAGCGTCCTTGAGGCTCCATTATTCGTTCATTCAGCATTTATTGTGCACCTACTATGTGGCGGGCATTTGGGATACCAAGATAAATTGCATGCGGCATGGCCCCAGCCATGAAGGAACTTAACCGCTAGTGCCGAGGACACGTTAAACGAACAGGATGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCAGGTGGATCACTCTGAGGTCAGGAGTTTGAGCCAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATAGAAAAATTAGCCGGGCATGGTGACACATGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGG 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Task1_train_28556 | A variant was discovered on Chromosome 22, affecting ADA2 (adenosine deaminase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCAGCCTTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGACAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGCAGACAGTCTTGTGGCCTCCCTTCTCCCCTGCCATCCCCATCACACCTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAAGCTCCACTTCCCGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTGATTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCACCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCCATCACACCTTTCTTGCAGCTAGGGCCCTCGGTAGAGGATGAAAGGTCAGATGTGCCTTTCTCAGTCTCCCTTACAGCTAAAATAGCCTTAACGCTGGACTGGGAGGTTATTTGTTGGGGAGCTTTGGGGGATTCCTCCCTGATAAAAGGGGATCCACTGGGAGGCTGTCTCCTATTTTGCTTCACTGGATGTGGTCACCCCAAATGTGATTCACCATCCGACAACCAAGTGGGGCAGAATCACCCACACAATGGGCATAGCACAGATTGCTTCTTACGTGAGATAACAAATGTCCTTATTGTAAAATCGGTGGGATGCATGTACTCTATTCTTGCAGCCATAAGCATTCTAATGGATTCACATATAAAATATGAACATCTGGCTGGGTGCGGTGGCTCACAC 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GAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCAGCCTTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGATAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGCAGACAGTCTTGTGGCCTCCCTTCTCCCCTGCCATCCCCATCACACCTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAAGCTCCACTTCCCGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTGATTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCACCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCCATCACACCTTTCTTGCAGCTAGGGCCCTCGGTAGAGGATGAAAGGTCAGATGTGCCTTTCTCAGTCTCCCTTACAGCTAAAATAGCCTTAACGCTGGACTGGGAGGTTATTTGTTGGGGAGCTTTGGGGGATTCCTCCCTGATAAAAGGGGATCCACTGGGAGGCTGTCTCCTATTTTGCTTCACTGGATGTGGTCACCCCAAATGTGATTCACCATCCGACAACCAAGTGGGGCAGAATCACCCACACAATGGGCATAGCACAGATTGCTTCTTACGTGAGATAACAAATGTCCTTATTGTAAAATCGGTGGGATGCATGTACTCTATTCTTGCAGCCATAAGCATTCTAATGGATTCACATATAAAATATGAACATCTGGCTGGGTGCGGTGGCTCACAC 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Task1_train_28557 | Given this context: Chromosome 22, gene ADA2 (adenosine deaminase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCATGCCCGTAATCCCAGCTTCTCCAGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAAAAATTGACCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTAACACAGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCCGAGCTTGCAAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTTGTTTTCCTTTTTGTGTAGAATGGAATCTTACTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCTAAGTGCTAGAATTACAGATGTGAGCCACTGTACCTGGCTAAAACACTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTTCAGTGAGCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTAAGTAGGTGGGACCACAGGTGTGTACCATCATGCCTGGCTAATTTTTGTATTTTTTTGTAGAGACAAAGTTTTGCCATGTTGCCCTGGCTGGCCTCAAACTCCTGGGTTTAAAGAGATCCACCCACATCAGCCTCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGTGCCCAGCCTAAAACGAATTTTTATAGCCAAAGTAGGATGATGTGAGTTTGCAGGATTATGCCCCTACCACGAAAAATTAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGGATTCAAATTCAGACTCCACTGCGCACCAGCTCTTTAACCCTGGACCACTGTGTTTGGAGCCTTGGGCTCTTCATCTATCAAATGGAGATTAAAAACTGGGGAAACAATCAGAAATCAATTAGAAAAGGCCAGGCGCAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACAT 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ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCATGCCCGTAATCCCAGCTTCTCCAGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAAAAATTGACCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTAACACAGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCCGAGCTTGCAAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTTGTTTTCCTTTTTGTGTAGAATGGAATCTTACTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCTAAGTGCTAGAATTACAGATGTGAGCCACTGTACCTGGCTAAAACACTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTTCAGTGAGCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTAAGTAGGTGGGACCACAGGTGTGTACCATCATGCCTGGCTAATTTTTGTATTTTTTTGTAGAGACAAAGTTTTGCCATGTTGCCCTGGCTGGCCTCAAACTCCTGGGTTTAAAGAGATCCACCCACATCAGCCTCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGTGCCCAGCCTAAAACGAATTTTTATAGCCAAAGTAGGATGATGTGAGTTTGCAGGATTATGCCCCTACCACGAAAAATTAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGGATTCAAATTCAGACTCCACTGCGCACCAGCTCTTTAACCCTGGACCACTGTGTTTGGAGCCTTGGGCTCTTCATCTATCAAATGGAGATTAAAAACTGGGGAAACAATCAGAAATCAATTAGAAAAGGCCAGGCGCAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGCTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACAT 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Task1_train_28558 | A variant found in Chromosome 22 affects ADA2 (adenosine deaminase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; See cases | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCATGCCCGTAATCCCAGCTTCTCCAGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAAAAATTGACCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTAACACAGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCCGAGCTTGCAAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTTGTTTTCCTTTTTGTGTAGAATGGAATCTTACTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCTAAGTGCTAGAATTACAGATGTGAGCCACTGTACCTGGCTAAAACACTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTTCAGTGAGCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTAAGTAGGTGGGACCACAGGTGTGTACCATCATGCCTGGCTAATTTTTGTATTTTTTTGTAGAGACAAAGTTTTGCCATGTTGCCCTGGCTGGCCTCAAACTCCTGGGTTTAAAGAGATCCACCCACATCAGCCTCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGTGCCCAGCCTAAAACGAATTTTTATAGCCAAAGTAGGATGATGTGAGTTTGCAGGATTATGCCCCTACCACGAAAAATTAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGGATTCAAATTCAGACTCCACTGCGCACCAGCTCTTTAACCCTGGACCACTGTGTTTGGAGCCTTGGGCTCTTCATCTATCAAATGGAGATTAAAAACTGGGGAAACAATCAGAAATCAATTAGAAAAGGCCAGGCGCAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACAT 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ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCATGCCCGTAATCCCAGCTTCTCCAGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAAAAAATTGACCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTAACACAGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCCGAGCTTGCAAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTTGTTTTCCTTTTTGTGTAGAATGGAATCTTACTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCTAAGTGCTAGAATTACAGATGTGAGCCACTGTACCTGGCTAAAACACTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTTCAGTGAGCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTAAGTAGGTGGGACCACAGGTGTGTACCATCATGCCTGGCTAATTTTTGTATTTTTTTGTAGAGACAAAGTTTTGCCATGTTGCCCTGGCTGGCCTCAAACTCCTGGGTTTAAAGAGATCCACCCACATCAGCCTCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGTGCCCAGCCTAAAACGAATTTTTATAGCCAAAGTAGGATGATGTGAGTTTGCAGGATTATGCCCCTACCACGAAAAATTAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGGATTCAAATTCAGACTCCACTGCGCACCAGCTCTTTAACCCTGGACCACTGTGTTTGGAGCCTTGGGCTCTTCATCTATCAAATGGAGATTAAAAACTGGGGAAACAATCAGAAATCAATTAGAAAAGGCCAGGCGCAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGCTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACAT 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Task1_train_28559 | Given a variant located on Chromosome 22 and affecting ADA2 (adenosine deaminase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Vasculitis due to ADA2 deficiency | CCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAGGCCAAGTGGCCTTGTTCCCAAAAGTCCAGCCAGGCTGGACTTGTGCTTCCCTTGTTCAGGTCCTCTACGGCCTTGGGCATTGTCTCTGCTGCTGCATGGGGAATTCCTAGCTGGCTCTGGGATAACCCTGATGCTGATGCCCACCTGTCTCCTTCATTGCTGGGTCACTGCACTTAAAACAGCACATGGCACACGCGAGGGTAGGTGCCCATTAAGCATCTGCATAATGGTTGAAGAGCAGGTCACGGGGGGAGAGGATGAAAGCTAGAAAGAGTGATCTGAGAATGACGTCATTCCCCACTACCTGCTCACCTCCCCACTGCTTCCCTAACTCCAGGTGCAGCAGCTGCAAGGCGGCCACTGCCACCAGGGACAGCAAGGGGGACACAGTGAGAGCAGAGTGGGGAGAGTTGGGAGTGGGCAGGTGACAAGGAAGCTAAGGGAAGGGAGGTGTGTAATGGGGAAAGGTGGCTCACACCTGTAATCATAGCACTTTGGGAGGCCGAGGCAGGGGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACCAAAAATACAAGATTAGCTGGGCATGGTGGCACATGCCTGTTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCGAAAAAAAAAAAGGGGGGGCCCTCTCTCTTCCTCGGCGCTGCCTACAGAAGTGGCAGCCATCTCCTCTTTGGCATCATGGCCACCCTCAGACCCCTTGTGAAGCCTGATTGTCAAAAAGAGAACCAAAAAGTTCATCTGGCACCGGTCTGACCAATACGTCAAAATTAACCGTAACTGGCGGAAACCCAGAGGTATTCACAACGGGGTTCATAGAAGGTTCAAGGGCCAGATCTCGATGCCCAACAGTGGTTATGGGAGCAACAAAAAAAAACAAAGAACACGCTGCCCAGTGGCTTCCAGAAGTTCCTGGTCCACAACATCAAGGAGCTGGAAGTGCTGCTGATGTGCAACAATCTCCCTGTGCTGACATCGCTCACAACGTTTCCTCTAAGAACCACGAAGCCATCGTGGAAAGAGCTGCCCAGCTGGTCATCAGAGTCACCAACCCCAATGCCAGGCTGCGCAGCAAAGAAAATGAGTAGACAGCTCATGTCCCCTTTTTGTGTTTAAATAAAACCGTAAAAACTGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCGGTCGAGGTGGGTGGATCACGAGGTCATGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCGTGCCTGTAGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAACTAAAAAAAAAAAAAAAAGATGTGGGAATTTCTGCAGAGACTGTGGGGTGAAGGAGACAGGGAGCAATAATATGGAGATGTCGATTACTTCCATGGCATCAGTTAAGCCCTTATGATATAAAAGGAACAGGGCTGGGCATTGGA 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CCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACGACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAGGCCAAGTGGCCTTGTTCCCAAAAGTCCAGCCAGGCTGGACTTGTGCTTCCCTTGTTCAGGTCCTCTACGGCCTTGGGCATTGTCTCTGCTGCTGCATGGGGAATTCCTAGCTGGCTCTGGGATAACCCTGATGCTGATGCCCACCTGTCTCCTTCATTGCTGGGTCACTGCACTTAAAACAGCACATGGCACACGCGAGGGTAGGTGCCCATTAAGCATCTGCATAATGGTTGAAGAGCAGGTCACGGGGGGAGAGGATGAAAGCTAGAAAGAGTGATCTGAGAATGACGTCATTCCCCACTACCTGCTCACCTCCCCACTGCTTCCCTAACTCCAGGTGCAGCAGCTGCAAGGCGGCCACTGCCACCAGGGACAGCAAGGGGGACACAGTGAGAGCAGAGTGGGGAGAGTTGGGAGTGGGCAGGTGACAAGGAAGCTAAGGGAAGGGAGGTGTGTAATGGGGAAAGGTGGCTCACACCTGTAATCATAGCACTTTGGGAGGCCGAGGCAGGGGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACCAAAAATACAAGATTAGCTGGGCATGGTGGCACATGCCTGTTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCGAAAAAAAAAAAGGGGGGGCCCTCTCTCTTCCTCGGCGCTGCCTACAGAAGTGGCAGCCATCTCCTCTTTGGCATCATGGCCACCCTCAGACCCCTTGTGAAGCCTGATTGTCAAAAAGAGAACCAAAAAGTTCATCTGGCACCGGTCTGACCAATACGTCAAAATTAACCGTAACTGGCGGAAACCCAGAGGTATTCACAACGGGGTTCATAGAAGGTTCAAGGGCCAGATCTCGATGCCCAACAGTGGTTATGGGAGCAACAAAAAAAAACAAAGAACACGCTGCCCAGTGGCTTCCAGAAGTTCCTGGTCCACAACATCAAGGAGCTGGAAGTGCTGCTGATGTGCAACAATCTCCCTGTGCTGACATCGCTCACAACGTTTCCTCTAAGAACCACGAAGCCATCGTGGAAAGAGCTGCCCAGCTGGTCATCAGAGTCACCAACCCCAATGCCAGGCTGCGCAGCAAAGAAAATGAGTAGACAGCTCATGTCCCCTTTTTGTGTTTAAATAAAACCGTAAAAACTGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCGGTCGAGGTGGGTGGATCACGAGGTCATGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCGTGCCTGTAGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAACTAAAAAAAAAAAAAAAAGATGTGGGAATTTCTGCAGAGACTGTGGGGTGAAGGAGACAGGGAGCAATAATATGGAGATGTCGATTACTTCCATGGCATCAGTTAAGCCCTTATGATATAAAAGGAACAGGGCTGGGCATTGGA 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Task1_train_28560 | A variant was discovered on Chromosome 22, affecting ADA2 (adenosine deaminase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Sneddon syndrome | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCGGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCAGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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Task1_train_28561 | Given this context: Chromosome 22, gene ADA2 (adenosine deaminase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Vasculitis due to ADA2 deficiency | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCGGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCAGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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Task1_train_28562 | The variant affects gene ADA2 (adenosine deaminase 2), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Vasculitis due to ADA2 deficiency | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCGGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCAGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCAT 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Task1_train_28563 | This sequence variant lies in ADA2 (adenosine deaminase 2) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Vasculitis due to ADA2 deficiency | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCGATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCAATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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Task1_train_28564 | This gene mutation involves ADA2 (adenosine deaminase 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCGATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCAATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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Task1_train_28565 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sneddon syndrome | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCGATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCAATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTG 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Task1_train_28566 | Here is a mutation in ADA2 (adenosine deaminase 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Vasculitis due to ADA2 deficiency | TGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCGATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCAGCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAG 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TGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGCACAATGGCTCGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCAAGGTGAGAGGACGGCTTGAGCCGCAGAGTTCAAGACCAGCCTGGGCAACACGGCAAAACCCCATCTCACAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTCTAGTGTGCTGACACAGGAGGATTGCTTCAGCTGACACAGGAGGCTGACACAGGAGGATTGCTTCAGCCTGGGAGGTTGAGTCTGAAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGATGATAGAATGAGACCCTGTCTTAAATAGTAATAATAATAATGATACTATACAAGTCTGTTAGGAAGTTGCTGCATCAGATTTTCAAGAAGATTTATCTTCCAGCTAGATTGTCATCACTTCAGAGCTAGGAACTTTTATTCTCTCTGGTTTTATTGAGCATCAGACAAATCTCATTTGCTACAGCAATAGTGTTGCTGACTAGGCATGGTCACTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGATGGGCAGATCTCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGTCTGTAATCCCAGCTACTCAGAAAGCTGAGGCAGGAAAATCACTTGAACCCGGGAGGCAGAGGCTGCTGTGAGCCAAGATCAGGCTGCTGTGAGCCAAGATCACGCCACTACACTCCAACCTGGGTGACAGAGCAAGACCCTGTCTCAAATAATAATAATAATAAATAACAATAATAATAACAAACAAAAATAGTGTTGCTGATAATGCTTTTTGTAGATTTTAAATGCACCAGAAAAACTACTATGGATAGAAAAGGTGTTGAATGCTTTTGTGGAGCAAAGTATCCTGCAAGGTTAAAAGAAAAAGGTGCTCATGCTTTTTTTTTGAGATAGGGTTTTATTTTGTCACTCAGGCTGGAGTACAGTGGCTCCATCTCAGTTCACTGTGGCCTCAACCTCCTGGGTTAAAGTGATCCTCCTGGGTTAAAGTGATCCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCAGCACCACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGCTTTCACCATGTTGACCAGACTGGCAACTCCTGGGCTCAAGTGATCCGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGCACTCAGCCTTGCCTCATGTTTTATTAAAGCCAGATTTTTATCTATAGGTTTGTACCAAGGGAGACACCTACCCACTGCCACCCCATGACAGGCCTGGGACATGTGCTTTCTGAACTACTACTCACCTGTCATCAAACTCAGTGACGTTCTGCACCCGCTTCCGATAATCCTCCAGCAGAATCCACTTGGAACATTTTTCTGATGGACGGGGAGTTGGGTGAGCAAATCTGAACTGCATGATCCCCCTTGGGGTGAAACAGATGTGGCAGTGAGGCCTGTAGGTGACATTCCTCACCAGCCAGTCCATAGTCACGATGCCAATGTCATGGAGGTGCAAGGCATCCCCTGGAGAGGGAAGAAGAATGGTGAAGACAAAGGGGTGAAGTCCCATCCCAGGACTCCAGGGCTTGGGGACAAAGGAGGGGGTGAAGTCCCATCCCAGGACTCTGGGGCTGTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAAAGGGGTGAAGTCCCATCCCAGGGCTCCGGGGCTTGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAG 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Task1_train_28567 | A variant affecting Chromosome 22, within the gene ADA2 (adenosine deaminase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Sneddon syndrome | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA 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ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCGCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA 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Task1_train_28568 | The gene ADA2 (adenosine deaminase 2), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCGCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA 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Task1_train_28569 | This sequence change occurs on Chromosome 22, altering ADA2 (adenosine deaminase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA 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ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCGCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAA 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Task1_train_28570 | Given this variant in gene ADA2 (adenosine deaminase 2) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Vasculitis due to ADA2 deficiency | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCGCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT 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Task1_train_28571 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; ADA2-related disorder | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCGCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT 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Task1_train_28572 | Mutation context: Chromosome 22, Gene ADA2 (adenosine deaminase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autoinflammatory syndrome | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCGCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT 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Task1_train_28573 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sneddon syndrome | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCGCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT 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Task1_train_28574 | A genomic change on Chromosome 22 affects ADA2 (adenosine deaminase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Vasculitis due to ADA2 deficiency | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCGCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAAT 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Task1_train_28575 | Gene ADA2 (adenosine deaminase 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAATTGCGCCACTGCAATCCAACCTGGGTAACAATGTCATATCCTCTCTAATAAATAAATGAATTGGCCAGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGACGGATCACGAGGTCAAGAGA 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AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACGTCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAATTGCGCCACTGCAATCCAACCTGGGTAACAATGTCATATCCTCTCTAATAAATAAATGAATTGGCCAGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGACGGATCACGAGGTCAAGAGA 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Task1_train_28576 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAATTGCGCCACTGCAATCCAACCTGGGTAACAATGTCATATCCTCTCTAATAAATAAATGAATTGGCCAGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGACGGATCACGAGGTCAAGAGA 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AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACTTCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCCAAAATTGCGCCACTGCAATCCAACCTGGGTAACAATGTCATATCCTCTCTAATAAATAAATGAATTGGCCAGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGACGGATCACGAGGTCAAGAGA 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Task1_train_28577 | Here is a variant affecting ATP6V1E1 (ATPase H+ transporting V1 subunit E1) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive cutis laxa type 2C | CTGCGAGAACAACAGGAACGGCTGCAAGTAGAATACACCACAGCTCTAGCCTTGTGTCTAAGAGTGCGTTTAAATGGTGAAAATACCATTTAAAAAAGGCCTGGTATAAAGGCCACTCTCCCAGGGAGAGAAGGTAGCTGTTAGCAGCAGGAATACTCCTTACATGTCTTCAGGCAGGTAGGACTCCTGGTCAATTTGGACATCAACATCGTTTTTGGTGGCAATTTTGTACATAGGAATTGCCTTCTGCACTGCAGCCTGGAAGTATAGAACACAATGAGAGGTGTCACTAGGAACTATGAAGCAAGTATCCAAAAACTCAACAGACTATACAAGCAAGGATACCTCCATTTATCCCAGGTAAAAGAACAGAGGCACCGCTGGTGGGAATGTAAAACGGCACGGCCACTGAGGAGAAATGACAGTCTGCACACAGGAGGGAAGAGATGCGAATGGTTTCTGTCAAGATTTAACAGGGCTTGGCAGGTGATTAAACACACCAGAGGCAGTTATTACATTTGAAACATGGATCAGCAGGAGGAAGATACATTATTCCCCCAGCTGAGAGTGTTAGAAGCTGGGGGTAGGTAAGGAGAGAAGGGAGGGAAGAGAAGTTTGGCTGCTGGCATGAGCTTCAACTGGCAGTTGCAGATGAGGGGGAGACAGCAGGCACCAGAAACAGCAGTGCCATGCCATACCCATAAGGATGGTTCTTATCAAAGTAACAGTATAATAGGTCCTCAAAAAATGAAGTACACAATTACCACATGATCCAGCAATTCTACTTCTGGGTATACAGACAAACGGATAGAAAGCAGGACAGATATCCGTATACCCATGTTTGCAGCAGCATTATTCACAACAGCCAAAAGGTGGGAGTAACCCAAGTGTCCAGTGACAGATGAACGGATAAACACAACGTGGGGCATCCATACCGTGGAATATTATTCAGCCTTACAAAGGAAGGCCATTCTGACCCACCCTACAGGGACCTTGAAGGCATTATGCTAAGTGAAATGAAACAGTCACAAAAAGACAAATACTGAATGTTTCCACTTATATGAGGTGAATGGGGGAGAAGAGAAGAGAAGAGAAATAATGGAGAGTTAGTGTTTAATGAGCACAAAGTTTCAGTACGGGAAAATGGAAAAGTTCTGAAGATGGATGGTGGTGATGGCTGCACAATATTGTAAATGTACTTAATGGCACAATGTATGGTTAAAATGGTATGTGTATTTTACCACCATTAAAAAAAAAAAAGAAAGGCAGGGCACGGTGGCTCGCACCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGCAGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGGGGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGAAATGAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAAACTAGATCCCTGGAATAAAAGATAGAAGTGGGTTTTTACGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTCCCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCACACGCTTGTAATTCCAGCTAGTCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGCAGGCAGAGGTTACAGGTGAGTGGAGATCCCGCCATTGCACTCCATCCTGGACAACAGAGTGAGACTCCACCAAAAAAAAAAGAAAAGGAAGGAAGGAAGGAAAAGAAAGAGAGAGGGGAAGGAAGAAAGGGAGGGGGGAGGGAGGGAGGGAAAAAATTATCCTAAGTTCTTTACCTTTACCAGAGGGAAATCTTGTTTCCTGCAACGAACAATCATTCGGGGCTCCAGCAACTGGTACAAACCCTGGAAGAAATAGTAGATACAGTCAGTAGAAAATGCAAACTATAAAATAAAGAAACAGGTCGGGCACAGTGGCTCAGGTCTGTAATCCTAACACTTTGGAAGGCCAAGGCGGGCGGATTGCCTGAGCTCAGAAGTTCGAGACCAGCCTAGGCAACAAGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGAATGATGGTATGTGCCTATAATCCCAGATTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCAGGAGACGGAGGTTGAAGTAAACAGAGATGATGTCAATGCACTCCTGCCTGGCTGACAGAGTGAGACTCTGTCTCCAAAAATAAAAATAAAATAAAATAAAGCAACAGTAAAATAAGATGCTTCTACAGTTCTTTCATTTAGGTTGGAAAAATTTCCCCTGGTAAGTTCCACTAACAGATGGCATATATCACATAAGACCATGGAAAGATCTATCTATCCCAAACCAGATAAATGAACCCAAACCTTTGGTGATAGAAACAAAATTCATGCAGACATCTTATATTACATCAACCAAGCTGAGGACAAATATTATTGTAATTAACATAAGTAAAATAAGGATTCACAGCTCAGCAGTAAACAATTAAAACATATACAGTGTTTGGTCTGAATCCTAAATCTAAAGCAAGTATTTTAGTGGCAAAATCAAATTAAGGGAATTTAAAGCTAGCCATTGCAAGCAAATTTGACCCTTAAGTCATGTAAGACTACATAATTGAGTAGTAGGCCTGGAAGTCTTATCCAAGCAGACAGATTTACTATTTTCCTATGCAGCACACATTTTAGATATGGTCAAGAGTGAAAGTAAAAAAGCTAAAAGAAAAAAAAAGGGTGAAAGGAAAAAAACTAGAGAAATGAGAAAGCAGGAAAAAATAGAGCTGGTCTCTAATAGGCATTCTAAATTTTCTCAGAACTGTGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTACCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAGTCGGCTCAGAACCCACTGTGAGGCTGATCCTGGCTCATGCCCAGCTGCCTCACATTTTATTGCTGGATTTTCATTCAACACACATTCCCTGAGATCTGAGATAAAGCAGGGGCTGTGCTGGGTACAAGGAAGCATGTAACACCGTCTCTGCTCCCAGGGAGTCCACGGCCTAGCAGAGAATAGCTCAGGTAACCATCAGTTCAGAAACCGACACAAGTGACTGACATGGAAAGATGCGCGCGATGTAACTTTGAAAAGCAAGCTATTAAACGGTTATACAAGATTACCCCATTTTTTTTAAGGAAAAAAACCAGATGTCTGGCTATGGATCGAAATACGAACAGTCTACCTTTGGAAGGCCAGATTACGAATAATTTCAATTTTGTTTGTTTGTTTTTGAGATGGAGTTTCACTCTTCTAACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGAGACTACAGGCGCCCACCACCACGCCCAGCTAATTCTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTCGTCTCTAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCTCAGCCCTCTTTGTTTGTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGATACAATCATGGCTCTCTACAGCCTTGACCATCCAGGCTCAAGTGATCTTCCCGCTTCAACCTCCTCAATATCTGGGACCACAGGCGTGTACCACTATACCCAGCTCATATTATTTTATTTTTTATAGAGATGGAGTCTTGCTATATTACCCAGGCTGCTCTT 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CTGCGAGAACAACAGGAACGGCTGCAAGTAGAATACACCACAGCTCTAGCCTTGTGTCTAAGAGTGCGTTTAAATGGTGAAAATACCATTTAAAAAAGGCCTGGTATAAAGGCCACTCTCCCAGGGAGAGAAGGTAGCTGTTAGCAGCAGGAATACTCCTTACATGTCTTCAGGCAGGTAGGACTCCTGGTCAATTTGGACATCAACATCGTTTTTGGTGGCAATTTTGTACATAGGAATTGCCTTCTGCACTGCAGCCTGGAAGTATAGAACACAATGAGAGGTGTCACTAGGAACTATGAAGCAAGTATCCAAAAACTCAACAGACTATACAAGCAAGGATACCTCCATTTATCCCAGGTAAAAGAACAGAGGCACCGCTGGTGGGAATGTAAAACGGCACGGCCACTGAGGAGAAATGACAGTCTGCACACAGGAGGGAAGAGATGCGAATGGTTTCTGTCAAGATTTAACAGGGCTTGGCAGGTGATTAAACACACCAGAGGCAGTTATTACATTTGAAACATGGATCAGCAGGAGGAAGATACATTATTCCCCCAGCTGAGAGTGTTAGAAGCTGGGGGTAGGTAAGGAGAGAAGGGAGGGAAGAGAAGTTTGGCTGCTGGCATGAGCTTCAACTGGCAGTTGCAGATGAGGGGGAGACAGCAGGCACCAGAAACAGCAGTGCCATGCCATACCCATAAGGATGGTTCTTATCAAAGTAACAGTATAATAGGTCCTCAAAAAATGAAGTACACAATTACCACATGATCCAGCAATTCTACTTCTGGGTATACAGACAAACGGATAGAAAGCAGGACAGATATCCGTATACCCATGTTTGCAGCAGCATTATTCACAACAGCCAAAAGGTGGGAGTAACCCAAGTGTCCAGTGACAGATGAACGGATAAACACAACGTGGGGCATCCATACCGTGGAATATTATTCAGCCTTACAAAGGAAGGCCATTCTGACCCACCCTACAGGGACCTTGAAGGCATTATGCTAAGTGAAATGAAACAGTCACAAAAAGACAAATACTGAATGTTTCCACTTATATGAGGTGAATGGGGGAGAAGAGAAGAGAAGAGAAATAATGGAGAGTTAGTGTTTAATGAGCACAAAGTTTCAGTACGGGAAAATGGAAAAGTTCTGAAGATGGATGGTGGTGATGGCTGCACAATATTGTAAATGTACTTAATGGCACAATGTATGGTTAAAATGGTATGTGTATTTTACCACCATTAAAAAAAAAAAAGAAAGGCAGGGCACGGTGGCTCGCACCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGCAGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGGGGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGAAATGAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAAACTAGATCCCTGGAATAAAAGATAGAAGTGGGTTTTTACGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTCCCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCACACGCTTGTAATTCCAGCTAGTCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGCAGGCAGAGGTTACAGGTGAGTGGAGATCCCGCCATTGCACTCCATCCTGGACAACAGAGTGAGACTCCACCAAAAAAAAAAGAAAAGGAAGGAAGGAAGGAAAAGAAAGAGAGAGGGGAAGGAAGAAAGGGAGGGGGGAGGGAGGGAGGGAAAAAATTATCCTAAGTTCTTTACCTTTACCAGAGGGAAATCTTGTTTCCTGCAACGAACAATCATTCGGGGCTCCGGCAACTGGTACAAACCCTGGAAGAAATAGTAGATACAGTCAGTAGAAAATGCAAACTATAAAATAAAGAAACAGGTCGGGCACAGTGGCTCAGGTCTGTAATCCTAACACTTTGGAAGGCCAAGGCGGGCGGATTGCCTGAGCTCAGAAGTTCGAGACCAGCCTAGGCAACAAGGCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGAATGATGGTATGTGCCTATAATCCCAGATTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCAGGAGACGGAGGTTGAAGTAAACAGAGATGATGTCAATGCACTCCTGCCTGGCTGACAGAGTGAGACTCTGTCTCCAAAAATAAAAATAAAATAAAATAAAGCAACAGTAAAATAAGATGCTTCTACAGTTCTTTCATTTAGGTTGGAAAAATTTCCCCTGGTAAGTTCCACTAACAGATGGCATATATCACATAAGACCATGGAAAGATCTATCTATCCCAAACCAGATAAATGAACCCAAACCTTTGGTGATAGAAACAAAATTCATGCAGACATCTTATATTACATCAACCAAGCTGAGGACAAATATTATTGTAATTAACATAAGTAAAATAAGGATTCACAGCTCAGCAGTAAACAATTAAAACATATACAGTGTTTGGTCTGAATCCTAAATCTAAAGCAAGTATTTTAGTGGCAAAATCAAATTAAGGGAATTTAAAGCTAGCCATTGCAAGCAAATTTGACCCTTAAGTCATGTAAGACTACATAATTGAGTAGTAGGCCTGGAAGTCTTATCCAAGCAGACAGATTTACTATTTTCCTATGCAGCACACATTTTAGATATGGTCAAGAGTGAAAGTAAAAAAGCTAAAAGAAAAAAAAAGGGTGAAAGGAAAAAAACTAGAGAAATGAGAAAGCAGGAAAAAATAGAGCTGGTCTCTAATAGGCATTCTAAATTTTCTCAGAACTGTGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTACCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAGTCGGCTCAGAACCCACTGTGAGGCTGATCCTGGCTCATGCCCAGCTGCCTCACATTTTATTGCTGGATTTTCATTCAACACACATTCCCTGAGATCTGAGATAAAGCAGGGGCTGTGCTGGGTACAAGGAAGCATGTAACACCGTCTCTGCTCCCAGGGAGTCCACGGCCTAGCAGAGAATAGCTCAGGTAACCATCAGTTCAGAAACCGACACAAGTGACTGACATGGAAAGATGCGCGCGATGTAACTTTGAAAAGCAAGCTATTAAACGGTTATACAAGATTACCCCATTTTTTTTAAGGAAAAAAACCAGATGTCTGGCTATGGATCGAAATACGAACAGTCTACCTTTGGAAGGCCAGATTACGAATAATTTCAATTTTGTTTGTTTGTTTTTGAGATGGAGTTTCACTCTTCTAACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGAGACTACAGGCGCCCACCACCACGCCCAGCTAATTCTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTCGTCTCTAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCTCAGCCCTCTTTGTTTGTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGATACAATCATGGCTCTCTACAGCCTTGACCATCCAGGCTCAAGTGATCTTCCCGCTTCAACCTCCTCAATATCTGGGACCACAGGCGTGTACCACTATACCCAGCTCATATTATTTTATTTTTTATAGAGATGGAGTCTTGCTATATTACCCAGGCTGCTCTT 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Task1_train_28578 | Here is a mutation in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGAGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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Task1_train_28579 | The following genetic variant occurs in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGAGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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Task1_train_28580 | Gene PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGAGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCA 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Task1_train_28581 | Here’s a variant in PEX26 (peroxisomal biogenesis factor 26) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATTGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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Task1_train_28582 | A variant was discovered in gene PEX26 (peroxisomal biogenesis factor 26), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATTGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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Task1_train_28583 | This alteration occurs within gene PEX26 (peroxisomal biogenesis factor 26) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATTGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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Task1_train_28584 | The following genetic variant occurs in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATTGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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Task1_train_28585 | A genomic change on Chromosome 22 affects PEX26 (peroxisomal biogenesis factor 26). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Peroxisome biogenesis disorder | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATTGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGC 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Task1_train_28586 | This mutation is located in gene TUBA8 (tubulin alpha 8) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Macrothrombocytopenia, isolated, 2, autosomal dominant | GGCCACACAGCACAGCAAGTAAATTGAGAAGGCAACATGGGAACCTGGGGCCGTGGGCAGCTCTGTGGGTGAATCCCCTCCCTAGCCACCAGGCTCACGGAGATCCAGCGGGTTGCGACCCCCGTCGGGCTGCCCCACGCTCACCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCCACAGACCTGGCACATGCTTCCTGCTGGGCTCAGGCGGCTGCCCCAGGCACAGTGTCGCCTTGTGTGGGCCACTGCTTCCCCAGGGCAGGGTGTGGGTGGGAGGATGAGTCTATCACGCCTACGTGTGCACGTGCACACACACACACACACACTGTCTCTCTCCCCACCCCCCTTTTTCTTTAATAATTTCAACTTTTATTTTAGATTCAGGGAGTACATATGCAGATTTCTTACATGGGTATATATTGTGATGCCAAGGTTTGGGGTACGATTAATCCTGTCACCCAGGTAATGAGCATAGTACCCAATAGTTAGTTTTCCAATCTTTGCCCGCTTCTTCCCTCCCCGCTCCAGTAGTGCCCAGTGTCTACTCTTGCCATTTTTCTGTCCATGAGTACCCATGTTTAGCTCCCACTTATAAGAACATGTGGTATTTGGTTTTCTATTCCTGCATTAATTTGCTTAGGATAATGACCTCCAGCTGCATCCATGTTGCTGCAAAGGATATGGGTTCATTCTTTTTTGGGGGCTGCGTAGTATTCCATGGTGTATATGAATGACATTTTCTGTATCCAGTCTACCATTGCTGGGCACCTGGTTGATTCCGTGTCTTTGCTGTTGTGAATAGTGCTGTGATGAACGTGTGAGTGCAGGTGTCTTTTTGGTAGGATGATTTTCTTTTGGATATATACCCAGTAACAGGATTGCTGAGTGAAATGGTAGTTCTGAGTTCTTTGAGAAATCTCCAAACTGCTTTCCACAGTGGCTGAACCAATTTACATTCCCATCAGTGCACTCCCCATCTTAAGCTGTTAGTACGAATACCAATCAGGCAATTGTGGCTTCACATCAGCTTTACTTAACACTTGGCCTGGCATAGGCAAGGGGCAGGCTATGGGGCTGCAAAGATTTTCCAATTGTTCAGCGTGCAGGAAGGGCCTAATTTATACCCTCCCCATCCTCTCTTGGGGTAATAAATAATCCTTTATTTCTACATTGGTAACCATGATACTACTGACAGCCATGGCGCATACTTCCAGAGCATGTTCCTTTCATGAGTGCTCATTTGCTCTGTGATATCCTGAGACTGTGTGTGTGCATGTGTGCACAATGTCAGAAAGTCAGGGTCAGGAGCAGCTGTGAATGCTGCCTTGTGTGGGCGTAGGCTGAAGGAGAGTTTCTGCCATGATCGCCAGTTCTTCCTTGGGCCTTCTTCACCAGTGCAGGAATCTTGTGGTTTGGAATTAGCCCCTTGCTTCATCTTTGCAACCACCCTCCTTTTTTCTTTCCTGGTATAAAAGGTCAACCCTGGGAAGCAACCTTTAGAGCAAAGCACAAAACAGCTGTGTCTTCTTTGGATCTAAGTCCTGGTCCAGCTGCTATAGAGCTGGGGCACCTGCAGCCTCAACGCCAACTGGCAATGGGGGGCTGGGGCCTGGCTGGCCTGCAAGGTGAATGTTATGGGGATGTAGGGCAAAGGCATGCTGGGGGCCCAGACTCTCTGACCTCGTTGCTTCCCTCTCCCCACAGCGGGAATGCATATCAGTCCACGTGGGCCAAGCGGGAGTTCAGATTGGCAATGCCTGCTGGGAGCTCTTCTGCCTGGAACACGGCATCCAGGCAGACGGCACTTTTGATGCTCAAGCTAGCAAGATCAACGATGATGACTCCTTCACCACCTTTTTCAGCGAGACTGGCAATGGGAAGCATGTGCCCCGGGCCGTCATGATAGATCTGGAGCCTACTGTAGTGGGTGAGTGGGGGCGGAGTTCCCCTCCACAGAGAACATCTCGAAACTGCAGAGGCATTGGCCCACAGTAGCTAAGGAAGCAGCGTCTCTAGCTGGAAGGTGGGGATGGTGCAACCGCAGCCTCCCACCCCACGTGACATCTGTCAGCTCCTTGGGGTCCCCACAGTCTCGGGGAATCTCATGACAGTGATCAAGACTCTATGCAGAACAAAATGCCTCCCACTTCAACCCCAAAACCTGCGGCACCAGGTCAAAATGGTCACATCGCTACTAAATACTAAGGATAAGAAAATCCAAATAATTTTAGAAATTATAAGACACCCCTAAGTGAGCAATTTCCCTAAGTATAGGTTTCTGAGTCTGCCCTCGGGGTGGGTATAACCTCACAGCATCTTACACACAAAGGGGCCTATCACAGCAGGCACATTGCTTCACAGCCAGGGGCCGCTGGAGTTCTGGAATGAGGTTCATTCAGGTTTAGGAAACACAGGAATTCTGCCTTGTGTCTAGGCAGATCTCCCCTTCCCACACTATCCCCCAGTAGTGCCACTTCCCCTGTTTCTGACCCCTGGGTCAACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTT 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GGCCACACAGCACAGCAAGTAAATTGAGAAGGCAACATGGGAACCTGGGGCCGTGGGCAGCTCTGTGGGTGAATCCCCTCCCTAGCCACCAGGCTCACGGAGATCCAGCGGGTTGCGACCCCCGTCGGGCTGCCCCACGCTCACCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCCACAGACCTGGCACATGCTTCCTGCTGGGCTCAGGCGGCTGCCCCAGGCACAGTGTCGCCTTGTGTGGGCCACTGCTTCCCCAGGGCAGGGTGTGGGTGGGAGGATGAGTCTATCACGCCTACGTGTGCACGTGCACACACACACACACACACTGTCTCTCTCCCCACCCCCCTTTTTCTTTAATAATTTCAACTTTTATTTTAGATTCAGGGAGTACATATGCAGATTTCTTACATGGGTATATATTGTGATGCCAAGGTTTGGGGTACGATTAATCCTGTCACCCAGGTAATGAGCATAGTACCCAATAGTTAGTTTTCCAATCTTTGCCCGCTTCTTCCCTCCCCGCTCCAGTAGTGCCCAGTGTCTACTCTTGCCATTTTTCTGTCCATGAGTACCCATGTTTAGCTCCCACTTATAAGAACATGTGGTATTTGGTTTTCTATTCCTGCATTAATTTGCTTAGGATAATGACCTCCAGCTGCATCCATGTTGCTGCAAAGGATATGGGTTCATTCTTTTTTGGGGGCTGCGTAGTATTCCATGGTGTATATGAATGACATTTTCTGTATCCAGTCTACCATTGCTGGGCACCTGGTTGATTCCGTGTCTTTGCTGTTGTGAATAGTGCTGTGATGAACGTGTGAGTGCAGGTGTCTTTTTGGTAGGATGATTTTCTTTTGGATATATACCCAGTAACAGGATTGCTGAGTGAAATGGTAGTTCTGAGTTCTTTGAGAAATCTCCAAACTGCTTTCCACAGTGGCTGAACCAATTTACATTCCCATCAGTGCACTCCCCATCTTAAGCTGTTAGTACGAATACCAATCAGGCAATTGTGGCTTCACATCAGCTTTACTTAACACTTGGCCTGGCATAGGCAAGGGGCAGGCTATGGGGCTGCAAAGATTTTCCAATTGTTCAGCGTGCAGGAAGGGCCTAATTTATACCCTCCCCATCCTCTCTTGGGGTAATAAATAATCCTTTATTTCTACATTGGTAACCATGATACTACTGACAGCCATGGCGCATACTTCCAGAGCATGTTCCTTTCATGAGTGCTCATTTGCTCTGTGATATCCTGAGACTGTGTGTGTGCATGTGTGCACAATGTCAGAAAGTCAGGGTCAGGAGCAGCTGTGAATGCTGCCTTGTGTGGGCGTAGGCTGAAGGAGAGTTTCTGCCATGATCGCCAGTTCTTCCTTGGGCCTTCTTCACCAGTGCAGGAATCTTGTGGTTTGGAATTAGCCCCTTGCTTCATCTTTGCAACCACCCTCCTTTTTTCTTTCCTGGTATAAAAGGTCAACCCTGGGAAGCAACCTTTAGAGCAAAGCACAAAACAGCTGTGTCTTCTTTGGATCTAAGTCCTGGTCCAGCTGCTATAGAGCTGGGGCACCTGCAGCCTCAACGCCAACTGGCAATGGGGGGCTGGGGCCTGGCTGGCCTGCAAGGTGAATGTTATGGGGATGTAGGGCAAAGGCATGCTGGGGGCCCAGACTCTCTGACCTCGTTGCTTCCCTCTCCCCACAGCGGGAATGCATATCAGTCCACGTGGGCCAAGCGGGAGTTCAGATTGGCAATGCCTACTGGGAGCTCTTCTGCCTGGAACACGGCATCCAGGCAGACGGCACTTTTGATGCTCAAGCTAGCAAGATCAACGATGATGACTCCTTCACCACCTTTTTCAGCGAGACTGGCAATGGGAAGCATGTGCCCCGGGCCGTCATGATAGATCTGGAGCCTACTGTAGTGGGTGAGTGGGGGCGGAGTTCCCCTCCACAGAGAACATCTCGAAACTGCAGAGGCATTGGCCCACAGTAGCTAAGGAAGCAGCGTCTCTAGCTGGAAGGTGGGGATGGTGCAACCGCAGCCTCCCACCCCACGTGACATCTGTCAGCTCCTTGGGGTCCCCACAGTCTCGGGGAATCTCATGACAGTGATCAAGACTCTATGCAGAACAAAATGCCTCCCACTTCAACCCCAAAACCTGCGGCACCAGGTCAAAATGGTCACATCGCTACTAAATACTAAGGATAAGAAAATCCAAATAATTTTAGAAATTATAAGACACCCCTAAGTGAGCAATTTCCCTAAGTATAGGTTTCTGAGTCTGCCCTCGGGGTGGGTATAACCTCACAGCATCTTACACACAAAGGGGCCTATCACAGCAGGCACATTGCTTCACAGCCAGGGGCCGCTGGAGTTCTGGAATGAGGTTCATTCAGGTTTAGGAAACACAGGAATTCTGCCTTGTGTCTAGGCAGATCTCCCCTTCCCACACTATCCCCCAGTAGTGCCACTTCCCCTGTTTCTGACCCCTGGGTCAACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTT 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Task1_train_28587 | Assess the clinical impact of this variant on gene TUBA8 (tubulin alpha 8), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCCACAGACCTGGCACATGCTTCCTGCTGGGCTCAGGCGGCTGCCCCAGGCACAGTGTCGCCTTGTGTGGGCCACTGCTTCCCCAGGGCAGGGTGTGGGTGGGAGGATGAGTCTATCACGCCTACGTGTGCACGTGCACACACACACACACACACTGTCTCTCTCCCCACCCCCCTTTTTCTTTAATAATTTCAACTTTTATTTTAGATTCAGGGAGTACATATGCAGATTTCTTACATGGGTATATATTGTGATGCCAAGGTTTGGGGTACGATTAATCCTGTCACCCAGGTAATGAGCATAGTACCCAATAGTTAGTTTTCCAATCTTTGCCCGCTTCTTCCCTCCCCGCTCCAGTAGTGCCCAGTGTCTACTCTTGCCATTTTTCTGTCCATGAGTACCCATGTTTAGCTCCCACTTATAAGAACATGTGGTATTTGGTTTTCTATTCCTGCATTAATTTGCTTAGGATAATGACCTCCAGCTGCATCCATGTTGCTGCAAAGGATATGGGTTCATTCTTTTTTGGGGGCTGCGTAGTATTCCATGGTGTATATGAATGACATTTTCTGTATCCAGTCTACCATTGCTGGGCACCTGGTTGATTCCGTGTCTTTGCTGTTGTGAATAGTGCTGTGATGAACGTGTGAGTGCAGGTGTCTTTTTGGTAGGATGATTTTCTTTTGGATATATACCCAGTAACAGGATTGCTGAGTGAAATGGTAGTTCTGAGTTCTTTGAGAAATCTCCAAACTGCTTTCCACAGTGGCTGAACCAATTTACATTCCCATCAGTGCACTCCCCATCTTAAGCTGTTAGTACGAATACCAATCAGGCAATTGTGGCTTCACATCAGCTTTACTTAACACTTGGCCTGGCATAGGCAAGGGGCAGGCTATGGGGCTGCAAAGATTTTCCAATTGTTCAGCGTGCAGGAAGGGCCTAATTTATACCCTCCCCATCCTCTCTTGGGGTAATAAATAATCCTTTATTTCTACATTGGTAACCATGATACTACTGACAGCCATGGCGCATACTTCCAGAGCATGTTCCTTTCATGAGTGCTCATTTGCTCTGTGATATCCTGAGACTGTGTGTGTGCATGTGTGCACAATGTCAGAAAGTCAGGGTCAGGAGCAGCTGTGAATGCTGCCTTGTGTGGGCGTAGGCTGAAGGAGAGTTTCTGCCATGATCGCCAGTTCTTCCTTGGGCCTTCTTCACCAGTGCAGGAATCTTGTGGTTTGGAATTAGCCCCTTGCTTCATCTTTGCAACCACCCTCCTTTTTTCTTTCCTGGTATAAAAGGTCAACCCTGGGAAGCAACCTTTAGAGCAAAGCACAAAACAGCTGTGTCTTCTTTGGATCTAAGTCCTGGTCCAGCTGCTATAGAGCTGGGGCACCTGCAGCCTCAACGCCAACTGGCAATGGGGGGCTGGGGCCTGGCTGGCCTGCAAGGTGAATGTTATGGGGATGTAGGGCAAAGGCATGCTGGGGGCCCAGACTCTCTGACCTCGTTGCTTCCCTCTCCCCACAGCGGGAATGCATATCAGTCCACGTGGGCCAAGCGGGAGTTCAGATTGGCAATGCCTGCTGGGAGCTCTTCTGCCTGGAACACGGCATCCAGGCAGACGGCACTTTTGATGCTCAAGCTAGCAAGATCAACGATGATGACTCCTTCACCACCTTTTTCAGCGAGACTGGCAATGGGAAGCATGTGCCCCGGGCCGTCATGATAGATCTGGAGCCTACTGTAGTGGGTGAGTGGGGGCGGAGTTCCCCTCCACAGAGAACATCTCGAAACTGCAGAGGCATTGGCCCACAGTAGCTAAGGAAGCAGCGTCTCTAGCTGGAAGGTGGGGATGGTGCAACCGCAGCCTCCCACCCCACGTGACATCTGTCAGCTCCTTGGGGTCCCCACAGTCTCGGGGAATCTCATGACAGTGATCAAGACTCTATGCAGAACAAAATGCCTCCCACTTCAACCCCAAAACCTGCGGCACCAGGTCAAAATGGTCACATCGCTACTAAATACTAAGGATAAGAAAATCCAAATAATTTTAGAAATTATAAGACACCCCTAAGTGAGCAATTTCCCTAAGTATAGGTTTCTGAGTCTGCCCTCGGGGTGGGTATAACCTCACAGCATCTTACACACAAAGGGGCCTATCACAGCAGGCACATTGCTTCACAGCCAGGGGCCGCTGGAGTTCTGGAATGAGGTTCATTCAGGTTTAGGAAACACAGGAATTCTGCCTTGTGTCTAGGCAGATCTCCCCTTCCCACACTATCCCCCAGTAGTGCCACTTCCCCTGTTTCTGACCCCTGGGTCAACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTTTTTTTGGAGATGGAGCCTCGCTCTGTCTTGTTGCCCAGGCTGGAGTGCAGTGGCAAGATCTCAGCTCACCTCAGCCTCTGCCTCCCAGGTTGAAGAGATTCTCCTGCCTCAGGCCTCCGAGTAGCTGGGACTACAGGCGCACG 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CCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCCACAGACCTGGCACATGCTTCCTGCTGGGCTCAGGCGGCTGCCCCAGGCACAGTGTCGCCTTGTGTGGGCCACTGCTTCCCCAGGGCAGGGTGTGGGTGGGAGGATGAGTCTATCACGCCTACGTGTGCACGTGCACACACACACACACACACTGTCTCTCTCCCCACCCCCCTTTTTCTTTAATAATTTCAACTTTTATTTTAGATTCAGGGAGTACATATGCAGATTTCTTACATGGGTATATATTGTGATGCCAAGGTTTGGGGTACGATTAATCCTGTCACCCAGGTAATGAGCATAGTACCCAATAGTTAGTTTTCCAATCTTTGCCCGCTTCTTCCCTCCCCGCTCCAGTAGTGCCCAGTGTCTACTCTTGCCATTTTTCTGTCCATGAGTACCCATGTTTAGCTCCCACTTATAAGAACATGTGGTATTTGGTTTTCTATTCCTGCATTAATTTGCTTAGGATAATGACCTCCAGCTGCATCCATGTTGCTGCAAAGGATATGGGTTCATTCTTTTTTGGGGGCTGCGTAGTATTCCATGGTGTATATGAATGACATTTTCTGTATCCAGTCTACCATTGCTGGGCACCTGGTTGATTCCGTGTCTTTGCTGTTGTGAATAGTGCTGTGATGAACGTGTGAGTGCAGGTGTCTTTTTGGTAGGATGATTTTCTTTTGGATATATACCCAGTAACAGGATTGCTGAGTGAAATGGTAGTTCTGAGTTCTTTGAGAAATCTCCAAACTGCTTTCCACAGTGGCTGAACCAATTTACATTCCCATCAGTGCACTCCCCATCTTAAGCTGTTAGTACGAATACCAATCAGGCAATTGTGGCTTCACATCAGCTTTACTTAACACTTGGCCTGGCATAGGCAAGGGGCAGGCTATGGGGCTGCAAAGATTTTCCAATTGTTCAGCGTGCAGGAAGGGCCTAATTTATACCCTCCCCATCCTCTCTTGGGGTAATAAATAATCCTTTATTTCTACATTGGTAACCATGATACTACTGACAGCCATGGCGCATACTTCCAGAGCATGTTCCTTTCATGAGTGCTCATTTGCTCTGTGATATCCTGAGACTGTGTGTGTGCATGTGTGCACAATGTCAGAAAGTCAGGGTCAGGAGCAGCTGTGAATGCTGCCTTGTGTGGGCGTAGGCTGAAGGAGAGTTTCTGCCATGATCGCCAGTTCTTCCTTGGGCCTTCTTCACCAGTGCAGGAATCTTGTGGTTTGGAATTAGCCCCTTGCTTCATCTTTGCAACCACCCTCCTTTTTTCTTTCCTGGTATAAAAGGTCAACCCTGGGAAGCAACCTTTAGAGCAAAGCACAAAACAGCTGTGTCTTCTTTGGATCTAAGTCCTGGTCCAGCTGCTATAGAGCTGGGGCACCTGCAGCCTCAACGCCAACTGGCAATGGGGGGCTGGGGCCTGGCTGGCCTGCAAGGTGAATGTTATGGGGATGTAGGGCAAAGGCATGCTGGGGGCCCAGACTCTCTGACCTCGTTGCTTCCCTCTCCCCACAGCGGGAATGCATATCAGTCCACGTGGGCCAAGCGGGAGTTCAGATTGGCAATGCCTGCTGGGAGCTCTTCTGCCTGGAACACGGCATCCAGGCAGACGGCACTTTTGATGCTCAAGCTAGCAAGATCAACGATGATGACTCCTTCACCACCTTTTTCAGCGAGACTGGCAATGGGAAGCATGTGCCCCGGGCCGTCATGCTAGATCTGGAGCCTACTGTAGTGGGTGAGTGGGGGCGGAGTTCCCCTCCACAGAGAACATCTCGAAACTGCAGAGGCATTGGCCCACAGTAGCTAAGGAAGCAGCGTCTCTAGCTGGAAGGTGGGGATGGTGCAACCGCAGCCTCCCACCCCACGTGACATCTGTCAGCTCCTTGGGGTCCCCACAGTCTCGGGGAATCTCATGACAGTGATCAAGACTCTATGCAGAACAAAATGCCTCCCACTTCAACCCCAAAACCTGCGGCACCAGGTCAAAATGGTCACATCGCTACTAAATACTAAGGATAAGAAAATCCAAATAATTTTAGAAATTATAAGACACCCCTAAGTGAGCAATTTCCCTAAGTATAGGTTTCTGAGTCTGCCCTCGGGGTGGGTATAACCTCACAGCATCTTACACACAAAGGGGCCTATCACAGCAGGCACATTGCTTCACAGCCAGGGGCCGCTGGAGTTCTGGAATGAGGTTCATTCAGGTTTAGGAAACACAGGAATTCTGCCTTGTGTCTAGGCAGATCTCCCCTTCCCACACTATCCCCCAGTAGTGCCACTTCCCCTGTTTCTGACCCCTGGGTCAACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTTTTTTTGGAGATGGAGCCTCGCTCTGTCTTGTTGCCCAGGCTGGAGTGCAGTGGCAAGATCTCAGCTCACCTCAGCCTCTGCCTCCCAGGTTGAAGAGATTCTCCTGCCTCAGGCCTCCGAGTAGCTGGGACTACAGGCGCACG 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Task1_train_28588 | Chromosome 22 houses a mutation in gene TUBA8 (tubulin alpha 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATCCGTGCTTACAACGTATCAGGCCCTTGCTCAGCATGTTATGCTATTTTATTTAATTGTCACAATAACCTTATGAGGATTTTCTATTGTCCCCATTTTCACTAAGAAGGAACAGAAGTGGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGTGGATCACGGGGTCAAGAGATTGAGATCATCCTGGCCAACATGTTAAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGTGGCAGGAGAATTGCTTGAACCCAGAAGGCGGAGTTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAACAGAAGTTTGGAGAGGTTCAGTAACTTGCTCAAGTTCTTACAACCAAGAAATGGCAAAGTTGATATTAGAACTCAGGCTTTCTGGCTCCATGTACCTTTCTGAAATTGGTGCCCTGAGTCACCTTCCAAGGTTGGGTTGAAGTGTGTCGGCAGCAGTTCCCACAAAATCAAATGACAAGAGCAGGGAAAGTGGGCAAGGAGTTGGGGCCCTCAAAGGGCAAAGTCACCATCCACTGTGGTTCTGAAACTCTCATTCCCTGTTCAACCAAGTTACTGGGCTGAAACCTTCATGTACCTAGAGGCGTGTGCCCCTGCAGCTTGTCATCCTATTAAAAAAAATAGAGACAGAGACTTGCTCTGTCATCCAAGCCAGAGTGCAGTGGTGTGATCATAGATTTCTGCAGCCATGAGCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCATCCCAAGTAACTGGGACTACAGGTGTGCATCACCACGCCCAGTTAACTTTTAAAATTTTTTGTAGATGCGAGGTCTCACTATGTTGCCCATGCTGGTTGTGAACTCCTGGCCTCAATGGATCCTCCTGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCATTGAGTCACTGTGCCTGGCCCCATCCCATATTTTAGCCACTCCTCCAAAGATCAATACAACTCCTTTTGTTTCCTTACTTCTTCAAAGCTGTTTTGATTTCATCCACAAAAAAATATGAGGCAGACAGAGTGGGCGGTCTGGCTTTTTTACTGTGGGGTGTTCTCGGAAACTTGTCTTCATGATTTCTTCTCATGTCCTGCTCTCCCTAGACAGATGCTTGCTCTGGCCTGCAGGGCTTCCTGATTTTCCACAGTTTTGGTGGGGGCACTGGCTCCGGCTTCACTTCTCTGCTGATGGAACGCCTCTCCCTGGATTATGGCAAGAAATCCAAGCTGGAGTTTGCCATCTACCCAGCCCCCCAGGTCTCTACTGCAGTGGTGGAGCCCTACAACTCCATCCTGACCACCCACACCACACTGGAACATTCAGATTGTGCTTTCATGGTGGACAACGAAGCCATCTATGACATCTGCCGCAGGAACCTTGACATTGAGCGCCCTACCTATACCAACCTCAACCGCCTCATCAGTCAGATTGTGTCCTCAATCACTGCTTCTCTCCGCTTTGACGGGGCCCTCAATGTGGACCTCACTGAGTTCCAGACCAACCTGGTGCCCTACCCCCGCATCCACTTCCCGCTGGTCACCTACGCGCCCATCATCTCTGCCGAGAAAGCCTATCACGAACAGCTCTCTGTGGCCGAGATAACCAGCTCCTGCTTTGAGCCCAACAGCCAGATGGTGAAGTGCGACCCGAGACATGGCAAGTACATGGCCTGCTGCATGCTCTACCGGGGCGACGTGGTGCCCAAGGATGTGAATGTCGCTATTGCTGCCATCAAGACCAAGAGGACCATCCAGTTTGTAGACTGGTGTCCCACAGGCTTCAAGGTGAGAGCTGATGACTTAGGAAGGGGAGAGAGGACTAGAGAAGCAGAGGGAGGTGACCAAGGATATGCAATTCCATGGGCGCTTCAGGCTTTATGTGATGATAAGGGGAGGGGGACTTCAACCAAATGTAACATGAATGGAATTCAGCTTTGGTTGAGACACAAGTGCTGTCAAAGTTTTGTCTGTTTAGGCCATTTTAGAAAAGTTTGGTGCTATTTTAAATTGATTAATTGGTTAATCACCTTTGGTTTTGTTTACTGAGCAACAAGTAATGATTTGGTATTGGCCCAAATCTACTCACCTGAAGTACAGTGCTTTTGGTGTTCATGATTTGGTTCAATTTGCCTAACGTTAGTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTGGGCTCACTGCAAGCTCCACCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCGCCACGCCCAGCTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTGTGAAACGGAGTGTCGCTCTGTCACCAAGGCTGGAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCTGCTACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTAACCTTGTGATCTGCCCGTCTCGGCTGGGATTACAGGCAGGAGCCACCGCGCCTGGCCTCCAACCTAAAGTTAGTTTTAATGGATATTTTACACTTCTTTGTACAGCATGATTTTGTGGCCATTTTAATTTTAGAGTTAACCAAATTATTCCAGTTGCCAGAGGAGTATGATGCCTCTCTCTAACAAAAAGCTGTGTTCTCCCAATTTATTTTGAAAACTTAAAATATCTATCCTGCACATCTTAATCAATTTGGAGTAATAAGATACTTTTATAGTTGTTCTATGATTGCTATTTTCCATTGCCATTAACCAGGAGTAAGCAAAAACCAGCAAGCCGTGTGGCTGGTGGTAACCAAGTGCCCGCAGTCTGGAAAATGCCAGGCTCAGAGAGTCAGTGGGGAGATACAAAATAGCGAGGGTAGACCCTGGGGCCCCAGGACCAGGAATGCTGAATGGTAGAAGTCACCCCTCTGAGCTGGACCGGCAGGCAAGCAGCCTGGCTGTGCACATGAACAGCTCAGCCACTCCACCCATGGTCTTTTGTCAGATTCTGCCATCATAACAGCTACCACATTCACATTAACTACTGCCCTGTAGTCAGGATTTCTTTTTTTATTTTTTATTGTATTTTTCCCCTGAGATGGAGTCTTGCTCTGTTGCCCGGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTTTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTCAAAGCATTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCCCTAGTCATGCTTTCAATCATTCAGAGGTTTTACTGGTACCTATTGT 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CTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATCCGTGCTTACAACGTATCAGGCCCTTGCTCAGCATGTTATGCTATTTTATTTAATTGTCACAATAACCTTATGAGGATTTTCTATTGTCCCCATTTTCACTAAGAAGGAACAGAAGTGGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGTGGATCACGGGGTCAAGAGATTGAGATCATCCTGGCCAACATGTTAAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGTGGCAGGAGAATTGCTTGAACCCAGAAGGCGGAGTTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAACAGAAGTTTGGAGAGGTTCAGTAACTTGCTCAAGTTCTTACAACCAAGAAATGGCAAAGTTGATATTAGAACTCAGGCTTTCTGGCTCCATGTACCTTTCTGAAATTGGTGCCCTGAGTCACCTTCCAAGGTTGGGTTGAAGTGTGTCGGCAGCAGTTCCCACAAAATCAAATGACAAGAGCAGGGAAAGTGGGCAAGGAGTTGGGGCCCTCAAAGGGCAAAGTCACCATCCACTGTGGTTCTGAAACTCTCATTCCCTGTTCAACCAAGTTACTGGGCTGAAACCTTCATGTACCTAGAGGCGTGTGCCCCTGCAGCTTGTCATCCTATTAAAAAAAATAGAGACAGAGACTTGCTCTGTCATCCAAGCCAGAGTGCAGTGGTGTGATCATAGATTTCTGCAGCCATGAGCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCATCCCAAGTAACTGGGACTACAGGTGTGCATCACCACGCCCAGTTAACTTTTAAAATTTTTTGTAGATGCGAGGTCTCACTATGTTGCCCATGCTGGTTGTGAACTCCTGGCCTCAATGGATCCTCCTGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCATTGAGTCACTGTGCCTGGCCCCATCCCATATTTTAGCCACTCCTCCAAAGATCAATACAACTCCTTTTGTTTCCTTACTTCTTCAAAGCTGTTTTGATTTCATCCACAAAAAAATATGAGGCAGACAGAGTGGGCGGTCTGGCTTTTTTACTGTGGGGTGTTCTCGGAAACTTGTCTTCATGATTTCTTCTCATGTCCTGCTCTCCCTAGACAGATGCTTGCTCTGGCCTGCAGGGCTTCCTGATTTTCCACAGTTTTGGTGGGGGCACTGGCTCCGGCTTCACTTCTCTGCTGATGGAACGCCTCTCCCTGGATTATGGCAAGAAATCCAAGCTGGAGTTTGCCATCTACCCAGCCCCCCAGGTCTCTACTGCAGTGGTGGAGCCCTACAACTCCATCCTGACCACCCACACCACACTGGAACATTCAGATTGTGCTTTCATGGTGGACAACGAAGCCATCTATGACATCTGCCGCAGGAACCTTGACATTGAGCGCCCTACCTATACCAACCTCAACCGCCTCATCAGTCAGATTGTGTCCTCAATCACTGCTTCTCTCCGCTTTGACGGGGCCCTCAATGTGGACCTCACTGAGTTCCAGACCAACCTGGTGCCCTACCCCCGCATCCACTTCCCGCTGGTCACCTACGCGCCCATCATCTCTGCCGAGAAAGCCTATCACGAACAGCTCTCTGTGGCCAAGATAACCAGCTCCTGCTTTGAGCCCAACAGCCAGATGGTGAAGTGCGACCCGAGACATGGCAAGTACATGGCCTGCTGCATGCTCTACCGGGGCGACGTGGTGCCCAAGGATGTGAATGTCGCTATTGCTGCCATCAAGACCAAGAGGACCATCCAGTTTGTAGACTGGTGTCCCACAGGCTTCAAGGTGAGAGCTGATGACTTAGGAAGGGGAGAGAGGACTAGAGAAGCAGAGGGAGGTGACCAAGGATATGCAATTCCATGGGCGCTTCAGGCTTTATGTGATGATAAGGGGAGGGGGACTTCAACCAAATGTAACATGAATGGAATTCAGCTTTGGTTGAGACACAAGTGCTGTCAAAGTTTTGTCTGTTTAGGCCATTTTAGAAAAGTTTGGTGCTATTTTAAATTGATTAATTGGTTAATCACCTTTGGTTTTGTTTACTGAGCAACAAGTAATGATTTGGTATTGGCCCAAATCTACTCACCTGAAGTACAGTGCTTTTGGTGTTCATGATTTGGTTCAATTTGCCTAACGTTAGTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTGGGCTCACTGCAAGCTCCACCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCGCCACGCCCAGCTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTGTGAAACGGAGTGTCGCTCTGTCACCAAGGCTGGAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCTGCTACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTAACCTTGTGATCTGCCCGTCTCGGCTGGGATTACAGGCAGGAGCCACCGCGCCTGGCCTCCAACCTAAAGTTAGTTTTAATGGATATTTTACACTTCTTTGTACAGCATGATTTTGTGGCCATTTTAATTTTAGAGTTAACCAAATTATTCCAGTTGCCAGAGGAGTATGATGCCTCTCTCTAACAAAAAGCTGTGTTCTCCCAATTTATTTTGAAAACTTAAAATATCTATCCTGCACATCTTAATCAATTTGGAGTAATAAGATACTTTTATAGTTGTTCTATGATTGCTATTTTCCATTGCCATTAACCAGGAGTAAGCAAAAACCAGCAAGCCGTGTGGCTGGTGGTAACCAAGTGCCCGCAGTCTGGAAAATGCCAGGCTCAGAGAGTCAGTGGGGAGATACAAAATAGCGAGGGTAGACCCTGGGGCCCCAGGACCAGGAATGCTGAATGGTAGAAGTCACCCCTCTGAGCTGGACCGGCAGGCAAGCAGCCTGGCTGTGCACATGAACAGCTCAGCCACTCCACCCATGGTCTTTTGTCAGATTCTGCCATCATAACAGCTACCACATTCACATTAACTACTGCCCTGTAGTCAGGATTTCTTTTTTTATTTTTTATTGTATTTTTCCCCTGAGATGGAGTCTTGCTCTGTTGCCCGGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTTTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTCAAAGCATTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCCCTAGTCATGCTTTCAATCATTCAGAGGTTTTACTGGTACCTATTGT 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Task1_train_28589 | The gene PRODH (proline dehydrogenase 1) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Proline dehydrogenase deficiency | TGGTCGCCCCGTGGGCTCACTGCCTGGCACCTTTGGGCCGGGATGAAAGGGGCCTGGGGGTCACTCTGGCCTTCATGGGGCCCCTCTGTATCCCAGGAGCTGATGCTGCAGATGAACCTGCTGGAACTCATCCGGAAGCTGCAGCAGAGGGGCTGCTGGGCAGGGAAGGCAGCCCTGGGGCTAGGAGGTCCCTGGCAGTTGCCTGCTGCCCAGTGTGACCAGAAAGGCAGCCCTGTCCCACCATAGCCACAGGCAGCAGAAGTCTGGGCAGAGTTCATCTTCTTGACCTTTGGCCACTGCCTTCCCAGCTGCCCGCAGGGGGTTCCCCCTGCTGAGGAGAGACCAGGTGGACCCCAGCTGCCTGTCACCCTTCATCTGGGACTTGCTGTCAAACCCTAGGATAGTCTCATAAAGGGGAGGCTGGGCCAGCCTGCTGCTGTCTGCTTCAGGGCCAGGCAGAGAGTGAGGCTGGGGGTTCTCACACCTTACTCCACCGGGCACATCCCAACCTGCACTGGGGCCCACTCGAGCGCTTGTTCTGGTCTCAGCCGCTCCCTTGGCAGCTGCAGCCCCCATGCAGAAGAGGCTCCCAGGCCCAAGCTCTGTGTGACCCAGAGAAATAAAGATGCCTCAGTGTGGCCCGCATGTGGCTTGTGTGATAGCTGCAGGTTCTGCCATAACCGGGGCCCTGGTAGGGCCCCCACCTCTGTTGCAGCAGAGGCCTCTACCTGGGGGCCCCTTCCTGGGCTGTGTGCCCAGCCCACCACCCCTCCCCCTGCCTGGAGACTGGGACCCTCCAGCCTTTCCTGCCCCAGCCCTGGTCCCAGGATGCTGTCACTGCCATCTGTACAGGGGCCCCCATCCAAGCCCCAGGGCATGAGGACCACATCCAGCCTGCTTTGTGGGGCTGGGGGCTGGAGAGCATGGGAGAAGGCCCGAAGTGCAAGTATGCGCCTGCCGCAGCCTGGTCAGTGTCCTGTGGGAACCACTAGGAGGAGCCTGATGCAGGTCACTGGGGTAGAGGACTCAGGGTGGCAGGAATGGCCTGAGGAGGAGCCCTGCGGGGAGGCGTGCCAGGCCCACCTGGGGAGCTTGGCCTCTGCATCTGCATGAGTCCCCTCCGTGCTGGCCTGGGCCCATGGGCCCTGCTGGGTCCTTGTGGAGTCAGGGTTGGGGGTGTCCAGCACCCTGGGTGGCCAGGTCTGCGCAGGGCCTGGCCCCCAGGAACAGATGATGCTGGAAGCCAGAGTCTGGGATGAGACTTCTCTGACCCTGTCTGAGCCACTCCCTCTTTGTTGCCCAGAGCTGACCCTGTGTGAGGGCAAAGGGCTCTCAGCTGCAGGAACAGTGGTTTATTGACCAGGCAGGCCTCCCCAGCCCGGCCACTGCTCCCCAAGGGGCTCGGGCTGTGTGGGCTGGCCTTGGCAGAAGGTGGACAATCCTCTAGGTCCAAGGACATGGGGGTCACAGAGGTGGGGGCCTTGGGCCCACACATTCGAGGAGAGTTCCCAAAAGTTTCCAGTGGCTGTCCCAGGCAGGTATCAGGTTCGGCCCACACCTGAGTGCCCATACTCTGGGCAGGGCTGGGAGGCACCTGACCTCACCTCCAGCAGCTCTGCAAGTGTGGGGTGAAAAAAGGTGAATCTGTGTGAGGATGGGGTTGGCTGCAGCTGTGGTGATGGCCTGGGCGGGGGCGGGGGGTGCTGGAGGCTAAGGGTGTGCTGGCGGGTGCTAGGCAGGGCGATGGAAGAGGTTGCCAGTTCGGAGCCGCCTCAAGAGCTCCAGCCACAGCAGCTGCCGCTCCCGATGGGTGCCCTTCATGAGGCTGCTGTTCTCCAGGGCACGGCGGGACAAGTAGGGCAGCACCTCCATCACGGGGCCATAGGGCACGTACTTGTACACGGGGTAGCCGGCCTGGCCTGCATGGGGGCAGATACACCATGAGGCCCAGGCCCAGCACCGTACCCCATCGCACCAGGGAGGGCCCCACTCACCCAGCGGGAAGCTGATCTGGTCACACATGCCTAGCAGCTGTCCAAAGTACACCCGGTGGTCAGCAGGATGCAGGCCCAGCTCCTCCATCCTGTGCAGGTGAAGCCAGGAACTGAGGGCCAGTTCCAGGACACTGTCCCCAGTGCAGGGATACAGGGCTCCTGTCCCAGCTCTGAGCCTGTCCTGCCATCCCAGGTGCCCCATCTGCACTCTCCAGACTTCATCCCCTGCAAGGTGGGGCTGGGGTATGGGCTCTGCCTGGCCCTGCCCCAGTGAGGCCTCTTCCCAGCAGGACTCTGCTGGGCTGCCCTACTCGTCTCCCTGGGGAGGCCTCAGCCCTTGGCCAACAAGGCCTCCCACCTGCTTTCCCTCCCCTCTCCTCTCTCACCTCTCCTCTAGCTCCCTTCTTGGAGGTGCAGCCCTTCCTCGGGCCCTGACCCACCCAGCAGCCTGCCCCACAGGGCAGAGAAGCTCCTCAGCTCTCCTGCCATCCCTTCCTCAAGCCCCTCCAGGGTTCTGTGGTATGACTGGTCTCCGGCCCCTGCCCTCGCCCTCTGTGGGCTGCTGCCCTGCCCCATCCCCACAGCTGCTGTGTCCCACACAGCTGCCACCAGCCCCCGAGTCCTCGGAAGGCGGCTGCTCTGAATCGAGATGTGTTGCAAATGTCAAATACACACGGGATTTAGGAGACTTTGTAGAAAAATAATGCACGATGCCGCGTTGCTTTTCTAAAAGCAACTGGAATACAATTTGAAGTAATATTTTGAATATTTTGGGTTAATTAAAATTATTCTTGAAATTCATTTTATCTTTTTCCTTTAACGTAGCTACTAAATTTTAAATTACAGATGTGGCTTGCATTATATATCTATTAGCACTGCTCAGATACTGGGGTGGGGCCTCCACTCTGTCCTGTCTTCACACCACCCCGTATAGCGTCTTACAAAGATTCTCAGGGTCTGAAATATCCACGCAGTGGCAGTTCTCAAGTTTCATCTCCAGCTTACTATATCCAGGTATCCCGACTTCGCTGGTCTGCAAAGCACTGGGGTCCCCACCCTGGGGTGAGTTCCGCCTGCTGCTCACGCATCACCCGGGACCACCCAGTCTAAAGCAGGCACCCATCTCTGCCACATCGCCCTGGCTTCCATCTTGTGTCTTCCTCAACCCCAGGACATGAACCCGAGAGCCGGGTGCCACTGCTGGCTGCCCCCTCCCCTGCTGGTGTGCACAGCCTCTGCCATGTGACTGCGGCTCCTCCCAGCACAGGACAGTGGCTCACTCCACCTGGCATCTGGGCTTGGCCTCGTGAGGCACTTTGGCCAGCAGGGAGGTACCAAAGGTGACACAAGCAGAGGCTTGCCCTCTCCAGGCCTTCTGGAAGCCTGAGCCCACCACGTGCTCAAGCCTGGGCTGGCCTGTGGGACGCTGGACCCGGGATGCAGTCTCCTTTACTGCCCCAGCCATGAATGAGCTCATTAGGCCCCACCGGCCCCAGATCACAGACGCAGGAGGGACACAGGCACAGCCAGCAGCAGAAGCATCAGCTGAGCCAGCCCACCCCTGGCCTACAGAACATGCCACTGTTCCAGCCTCTAAGTTTGGGGCTGGTTTGTTCCTTGGCCAAAGCCAACTCCGATTGTTTGAGGGTGGGTGGTGTGGCAGTCTGGGCCCAGCACAGGACAGAGCAGCTGCCATAGTCTAGAACCACTTACCCATGGGAGGGGACCCCAGCTCCCCAGAGCTCCCCAACCACCCACAGCAGGGGCAGAGCTGAAGCCTGCAGGGGTCCAGCCTCTCAGGCAGGGATGTGAGCGTGGTACTGGGGGAGCCTGGCACAGGGCCCTTGGGGCCAAGAGGAGAGAGCCCGGCTGCCACTCAGGGGAGGGGGAAGCTGTGTCCACTGGGGAAGCCACTGCCACAGCAAGATAGTAGGGACAGACAGGTGCCGGGCGGAAGCTGGAGAGAGGAAGCCCTGCTGAGGGCAGGCTGTCCTTTCGGAGTTGGATGGTGATGTGTCTAGTCAGGCTGTGAGTCCACCAGCATTGAGAGTCCACCCAGAGGCTGGGAGTCCTGATTACAAGCTGAGAGGAACCCCCACCAG 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TGGTCGCCCCGTGGGCTCACTGCCTGGCACCTTTGGGCCGGGATGAAAGGGGCCTGGGGGTCACTCTGGCCTTCATGGGGCCCCTCTGTATCCCAGGAGCTGATGCTGCAGATGAACCTGCTGGAACTCATCCGGAAGCTGCAGCAGAGGGGCTGCTGGGCAGGGAAGGCAGCCCTGGGGCTAGGAGGTCCCTGGCAGTTGCCTGCTGCCCAGTGTGACCAGAAAGGCAGCCCTGTCCCACCATAGCCACAGGCAGCAGAAGTCTGGGCAGAGTTCATCTTCTTGACCTTTGGCCACTGCCTTCCCAGCTGCCCGCAGGGGGTTCCCCCTGCTGAGGAGAGACCAGGTGGACCCCAGCTGCCTGTCACCCTTCATCTGGGACTTGCTGTCAAACCCTAGGATAGTCTCATAAAGGGGAGGCTGGGCCAGCCTGCTGCTGTCTGCTTCAGGGCCAGGCAGAGAGTGAGGCTGGGGGTTCTCACACCTTACTCCACCGGGCACATCCCAACCTGCACTGGGGCCCACTCGAGCGCTTGTTCTGGTCTCAGCCGCTCCCTTGGCAGCTGCAGCCCCCATGCAGAAGAGGCTCCCAGGCCCAAGCTCTGTGTGACCCAGAGAAATAAAGATGCCTCAGTGTGGCCCGCATGTGGCTTGTGTGATAGCTGCAGGTTCTGCCATAACCGGGGCCCTGGTAGGGCCCCCACCTCTGTTGCAGCAGAGGCCTCTACCTGGGGGCCCCTTCCTGGGCTGTGTGCCCAGCCCACCACCCCTCCCCCTGCCTGGAGACTGGGACCCTCCAGCCTTTCCTGCCCCAGCCCTGGTCCCAGGATGCTGTCACTGCCATCTGTACAGGGGCCCCCATCCAAGCCCCAGGGCATGAGGACCACATCCAGCCTGCTTTGTGGGGCTGGGGGCTGGAGAGCATGGGAGAAGGCCCGAAGTGCAAGTATGCGCCTGCCGCAGCCTGGTCAGTGTCCTGTGGGAACCACTAGGAGGAGCCTGATGCAGGTCACTGGGGTAGAGGACTCAGGGTGGCAGGAATGGCCTGAGGAGGAGCCCTGCGGGGAGGCGTGCCAGGCCCACCTGGGGAGCTTGGCCTCTGCATCTGCATGAGTCCCCTCCGTGCTGGCCTGGGCCCATGGGCCCTGCTGGGTCCTTGTGGAGTCAGGGTTGGGGGTGTCCAGCACCCTGGGTGGCCAGGTCTGCGCAGGGCCTGGCCCCCAGGAACAGATGATGCTGGAAGCCAGAGTCTGGGATGAGACTTCTCTGACCCTGTCTGAGCCACTCCCTCTTTGTTGCCCAGAGCTGACCCTGTGTGAGGGCAAAGGGCTCTCAGCTGCAGGAACAGTGGTTTATTGACCAGGCAGGCCTCCCCAGCCCGGCCACTGCTCCCCAAGGGGCTCGGGCTGTGTGGGCTGGCCTTGGCAGAAGGTGGACAATCCTCTAGGTCCAAGGACATGGGGGTCACAGAGGTGGGGGCCTTGGGCCCACACATTCGAGGAGAGTTCCCAAAAGTTTCCAGTGGCTGTCCCAGGCAGGTATCAGGTTCGGCCCACACCTGAGTGCCCATACTCTGGGCAGGGCTGGGAGGCACCTGACCTCACCTCCAGCAGCTCTGCAAGTGTGGGGTGAAAAAAGGTGAATCTGTGTGAGGATGGGGTTGGCTGCAGCTGTGGTGATGGCCTGGGCGGGGGCGGGGGGTGCTGGAGGCTAAGGGTGTGCTGGCGGGTGCTAGGCAGGGCGATGGAAGAGGTTGCCAGTTCGGAGCCGCCTCAAGAGCTCCAGCCACAGCAGCTGCCGCTCCCGATGGGTGCCCTTCATGAGGCTGCTGTTCTCCAGGGCACGGCGGGACAAGTAGGGCAGCACCTCCATCACGGGGCCATAGGGCACGTACTTGTACACGGGGTAGCCGGCCTGGCCTGCATGGGGGCAGATACACCATGAGGCCCAGGCCCAGCACCGTACCCCATCGCACCAGGGAGGGCCCCACTCACCCAGCGGGAAGCTGATCTGGTCACACATGCCTAGCAGCTGTCCAAAGTACACCCCGTGGTCAGCAGGATGCAGGCCCAGCTCCTCCATCCTGTGCAGGTGAAGCCAGGAACTGAGGGCCAGTTCCAGGACACTGTCCCCAGTGCAGGGATACAGGGCTCCTGTCCCAGCTCTGAGCCTGTCCTGCCATCCCAGGTGCCCCATCTGCACTCTCCAGACTTCATCCCCTGCAAGGTGGGGCTGGGGTATGGGCTCTGCCTGGCCCTGCCCCAGTGAGGCCTCTTCCCAGCAGGACTCTGCTGGGCTGCCCTACTCGTCTCCCTGGGGAGGCCTCAGCCCTTGGCCAACAAGGCCTCCCACCTGCTTTCCCTCCCCTCTCCTCTCTCACCTCTCCTCTAGCTCCCTTCTTGGAGGTGCAGCCCTTCCTCGGGCCCTGACCCACCCAGCAGCCTGCCCCACAGGGCAGAGAAGCTCCTCAGCTCTCCTGCCATCCCTTCCTCAAGCCCCTCCAGGGTTCTGTGGTATGACTGGTCTCCGGCCCCTGCCCTCGCCCTCTGTGGGCTGCTGCCCTGCCCCATCCCCACAGCTGCTGTGTCCCACACAGCTGCCACCAGCCCCCGAGTCCTCGGAAGGCGGCTGCTCTGAATCGAGATGTGTTGCAAATGTCAAATACACACGGGATTTAGGAGACTTTGTAGAAAAATAATGCACGATGCCGCGTTGCTTTTCTAAAAGCAACTGGAATACAATTTGAAGTAATATTTTGAATATTTTGGGTTAATTAAAATTATTCTTGAAATTCATTTTATCTTTTTCCTTTAACGTAGCTACTAAATTTTAAATTACAGATGTGGCTTGCATTATATATCTATTAGCACTGCTCAGATACTGGGGTGGGGCCTCCACTCTGTCCTGTCTTCACACCACCCCGTATAGCGTCTTACAAAGATTCTCAGGGTCTGAAATATCCACGCAGTGGCAGTTCTCAAGTTTCATCTCCAGCTTACTATATCCAGGTATCCCGACTTCGCTGGTCTGCAAAGCACTGGGGTCCCCACCCTGGGGTGAGTTCCGCCTGCTGCTCACGCATCACCCGGGACCACCCAGTCTAAAGCAGGCACCCATCTCTGCCACATCGCCCTGGCTTCCATCTTGTGTCTTCCTCAACCCCAGGACATGAACCCGAGAGCCGGGTGCCACTGCTGGCTGCCCCCTCCCCTGCTGGTGTGCACAGCCTCTGCCATGTGACTGCGGCTCCTCCCAGCACAGGACAGTGGCTCACTCCACCTGGCATCTGGGCTTGGCCTCGTGAGGCACTTTGGCCAGCAGGGAGGTACCAAAGGTGACACAAGCAGAGGCTTGCCCTCTCCAGGCCTTCTGGAAGCCTGAGCCCACCACGTGCTCAAGCCTGGGCTGGCCTGTGGGACGCTGGACCCGGGATGCAGTCTCCTTTACTGCCCCAGCCATGAATGAGCTCATTAGGCCCCACCGGCCCCAGATCACAGACGCAGGAGGGACACAGGCACAGCCAGCAGCAGAAGCATCAGCTGAGCCAGCCCACCCCTGGCCTACAGAACATGCCACTGTTCCAGCCTCTAAGTTTGGGGCTGGTTTGTTCCTTGGCCAAAGCCAACTCCGATTGTTTGAGGGTGGGTGGTGTGGCAGTCTGGGCCCAGCACAGGACAGAGCAGCTGCCATAGTCTAGAACCACTTACCCATGGGAGGGGACCCCAGCTCCCCAGAGCTCCCCAACCACCCACAGCAGGGGCAGAGCTGAAGCCTGCAGGGGTCCAGCCTCTCAGGCAGGGATGTGAGCGTGGTACTGGGGGAGCCTGGCACAGGGCCCTTGGGGCCAAGAGGAGAGAGCCCGGCTGCCACTCAGGGGAGGGGGAAGCTGTGTCCACTGGGGAAGCCACTGCCACAGCAAGATAGTAGGGACAGACAGGTGCCGGGCGGAAGCTGGAGAGAGGAAGCCCTGCTGAGGGCAGGCTGTCCTTTCGGAGTTGGATGGTGATGTGTCTAGTCAGGCTGTGAGTCCACCAGCATTGAGAGTCCACCCAGAGGCTGGGAGTCCTGATTACAAGCTGAGAGGAACCCCCACCAG 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Task1_train_28590 | The gene SLC25A1 (solute carrier family 25 member 1) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGGCCCCAGAGAGCTGAGTGCCCCTCCAGGTTTCATGGCTGGCACTGTGGACCAGTGTGGCCCACTGCCTGCTTGCCACCCCACAACAAAGCTTCAGAGGTGCAGAACCAGTGGCCTGAGCTCCAGGGACAGGAAGCATCTTGGCGTGGGGTTCTCATGGTGGCACTTGCATGCCCTAGTGCACAGGGGCGGAAGGGGAAGCTCTGTTGCCTGGGCCCTTTCTCTGTGGCAACAGATGGGGAAGTCTGCCGTGAGGATAGAGAGTGCATGGCCATCCCATCACAGCACAGGTTGAGTGCTGAGCCACCCCGAGCCCTCCCCAGCCCAGCGGCTCTCCCCAAGGAGGCTTCAAAACCCCGTGCTCCCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGCTGTGGAAAGAGGGGCTTGGCCCCATGGGGACATGCCAGTTCAGAGCTCTGGCCTCCAGCCAGAGGGACACCTTTCTCTGAGGCTCATGGCTGTGGCATGAGGTGCCCAGAGAGCCCTGGTCAGGCAGCCCCACCTCCTGCTGCCCCAGGGCAGCTGCCTCCCAGCCCAGGTGAAGGAACAAGGGAGGGCCCCTGCCCAGAGCCTTTGGGTAGCAGATGCCAGACACCCACCCCCACCTGGAGTTCAGAGGCCTCAACGTGCCCCCATCTCCTCCTCCCCACGAGCAGCCCATTTCACTCACTGAGGAGCTGGGCATACCCCAGAGGGGCCCTGGGCAACCCAACCCTTCCCTAAGCTTCCCTGTGGGTGAGGGGCAGGCAGTCGTCCTGGGGGCTCCATCTCCTGGGCCCAGCCCCCTGCTCTGAACACTCTGCCAGGCCACCCCTAGGCCTTGTCAACACACCCTTTTACCCATGCCACGGGATCTTGCCCAGAGGCCACAGGGAAGGCCAGGGTGCACCCAGATCCTTCTTGGCCTGGCGCTGGGCTTCTCAGGGAGCCAACACTGTGGCCACAGCTGCTCTGCCCTGGGTGGACACTAGGCTTTCCCTGTCCCCCTACTGCAGTGTCCTCAGATGGGGGTGGCCTGGTCCCCTGCAGAGGCACAGCCACCAATGCCCATGCATAGATGGGTCCATACAGGGACGAACACAGGACAGGAGGCTGCAACAGGATCCGGTTTATTCTGCCTTGGCAGGGTGGTCCTGAGAGTGGTGGGTGCCACCCTGTCCGGGGCGGAGAGAGGGCCCGAGGGCCAGTTAAGGCCAATGGCGGGAGAAGCAGGGGGCTGCAGCCCCTGGAATGCGGTGAAGCCAGGCCGAGGCCCGGAGGCAGCTGTGGTAGGCCAGGGCAGGGTGGAAGGCACCGGACTGGGACCGGGCCAGGGCTACAGGGCCGAGGACCCAGGCCACACGGGCACCCCGGGAGGCGGGGCACAGGGTCACGTGACACAGAACATGAAACACAGGCACAGGGTCATAGGCCAGATGCACATCCAGCCATGGCTGGGCCAGACACTGGGACACAGTGGTGGTGTCACACACAGACCACAGGGGGGACACATGGATTTGACAGCCACAATGCACAGACCAGGCTACAGAGCTCGAGGGACGTGGGAAGGGGCCTTTTGGCACTACTGCACTGGAATCGTGAGACAAAGGTAGCAGGACACTCTGGCGGTGCCTGGGGCGGTCCCCTTGCGGCCTCTCTAGGCTTAGTCCGTCTTCCACACTTTGTTGAGCAGCTTCACCACTTCATCATAGATGACAAACACTATGGCCACATCCAGGCAGACCCGGCCCAGGCGGGGGACAGTGCCCTTGTAGAATCTGGGTGGGAGGAGGGGCGGGGAGAGGAAGGCAGGTCAGCACAGTGTCCCTGCACAGGGCAATCCCCAGATACTGAAGTGAGAGGCACAGAGGCCTGAAGGGGACAGAGTGGGCAGGCCAGGTAGGCCGGGAAAGGTTTGAGGTGGGGACAATAGCCCTGCCCCTCCCCCACTCACGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTCCAGGCCCTATGGGGGACATCAGCAGGCAGGGGCTCAGCAGCTAGCTCTGGCCTGGTCCCCCCTTCCCCTCCCCTTCCCGGCCCCACCACCTGCATCCGGGTCTTAATCACATCCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAG | AGGCCCCAGAGAGCTGAGTGCCCCTCCAGGTTTCATGGCTGGCACTGTGGACCAGTGTGGCCCACTGCCTGCTTGCCACCCCACAACAAAGCTTCAGAGGTGCAGAACCAGTGGCCTGAGCTCCAGGGACAGGAAGCATCTTGGCGTGGGGTTCTCATGGTGGCACTTGCATGCCCTAGTGCACAGGGGCGGAAGGGGAAGCTCTGTTGCCTGGGCCCTTTCTCTGTGGCAACAGATGGGGAAGTCTGCCGTGAGGATAGAGAGTGCATGGCCATCCCATCACAGCACAGGTTGAGTGCTGAGCCACCCCGAGCCCTCCCCAGCCCAGCGGCTCTCCCCAAGGAGGCTTCAAAACCCCGTGCTCCCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGCTGTGGAAAGAGGGGCTTGGCCCCATGGGGACATGCCAGTTCAGAGCTCTGGCCTCCAGCCAGAGGGACACCTTTCTCTGAGGCTCATGGCTGTGGCATGAGGTGCCCAGAGAGCCCTGGTCAGGCAGCCCCACCTCCTGCTGCCCCAGGGCAGCTGCCTCCCAGCCCAGGTGAAGGAACAAGGGAGGGCCCCTGCCCAGAGCCTTTGGGTAGCAGATGCCAGACACCCACCCCCACCTGGAGTTCAGAGGCCTCAACGTGCCCCCATCTCCTCCTCCCCACGAGCAGCCCATTTCACTCACTGAGGAGCTGGGCATACCCCAGAGGGGCCCTGGGCAACCCAACCCTTCCCTAAGCTTCCCTGTGGGTGAGGGGCAGGCAGTCGTCCTGGGGGCTCCATCTCCTGGGCCCAGCCCCCTGCTCTGAACACTCTGCCAGGCCACCCCTAGGCCTTGTCAACACACCCTTTTACCCATGCCACGGGATCTTGCCCAGAGGCCACAGGGAAGGCCAGGGTGCACCCAGATCCTTCTTGGCCTGGCGCTGGGCTTCTCAGGGAGCCAACACTGTGGCCACAGCTGCTCTGCCCTGGGTGGACACTAGGCTTTCCCTGTCCCCCTACTGCAGTGTCCTCAGATGGGGGTGGCCTGGTCCCCTGCAGAGGCACAGCCACCAATGCCCATGCATAGATGGGTCCATACAGGGACGAACACAGGACAGGAGGCTGCAACAGGATCCGGTTTATTCTGCCTTGGCAGGGTGGTCCTGAGAGTGGTGGGTGCCACCCTGTCCGGGGCGGAGAGAGGGCCCGAGGGCCAGTTAAGGCCAATGGCGGGAGAAGCAGGGGGCTGCAGCCCCTGGAATGCGGTGAAGCCAGGCCGAGGCCCGGAGGCAGCTGTGGTAGGCCAGGGCAGGGTGGAAGGCACCGGACTGGGACCGGGCCAGGGCTACAGGGCCGAGGACCCAGGCCACACGGGCACCCCGGGAGGCGGGGCACAGGGTCACGTGACACAGAACATGAAACACAGGCACAGGGTCATAGGCCAGATGCACATCCAGCCATGGCTGGGCCAGACACTGGGACACAGTGGTGGTGTCACACACAGACCACAGGGGGGACACATGGATTTGACAGCCACAATGCACAGACCAGGCTACAGAGCTCGAGGGACGTGGGAAGGGGCCTTTTGGCACTACTGCACTGGAATCGTGAGACAAAGGTAGCAGGACACTCTGGCGGTGCCTGGGGCGGTCCCCTTGCGGCCTCTCTAGGCTTAGTCCGTCTTCCACACTTTGTTGAGCAGCTTCACCACTTCATCATAGATGACAAACACTATGGCCACATCCAGGCAGACCCGGCCCAGGTGGGGGACAGTGCCCTTGTAGAATCTGGGTGGGAGGAGGGGCGGGGAGAGGAAGGCAGGTCAGCACAGTGTCCCTGCACAGGGCAATCCCCAGATACTGAAGTGAGAGGCACAGAGGCCTGAAGGGGACAGAGTGGGCAGGCCAGGTAGGCCGGGAAAGGTTTGAGGTGGGGACAATAGCCCTGCCCCTCCCCCACTCACGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTCCAGGCCCTATGGGGGACATCAGCAGGCAGGGGCTCAGCAGCTAGCTCTGGCCTGGTCCCCCCTTCCCCTCCCCTTCCCGGCCCCACCACCTGCATCCGGGTCTTAATCACATCCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAG |
Task1_train_28591 | The gene SLC25A1 (solute carrier family 25 member 1) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Myasthenic syndrome, congenital, 23, presynaptic | CCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGCTGTGGAAAGAGGGGCTTGGCCCCATGGGGACATGCCAGTTCAGAGCTCTGGCCTCCAGCCAGAGGGACACCTTTCTCTGAGGCTCATGGCTGTGGCATGAGGTGCCCAGAGAGCCCTGGTCAGGCAGCCCCACCTCCTGCTGCCCCAGGGCAGCTGCCTCCCAGCCCAGGTGAAGGAACAAGGGAGGGCCCCTGCCCAGAGCCTTTGGGTAGCAGATGCCAGACACCCACCCCCACCTGGAGTTCAGAGGCCTCAACGTGCCCCCATCTCCTCCTCCCCACGAGCAGCCCATTTCACTCACTGAGGAGCTGGGCATACCCCAGAGGGGCCCTGGGCAACCCAACCCTTCCCTAAGCTTCCCTGTGGGTGAGGGGCAGGCAGTCGTCCTGGGGGCTCCATCTCCTGGGCCCAGCCCCCTGCTCTGAACACTCTGCCAGGCCACCCCTAGGCCTTGTCAACACACCCTTTTACCCATGCCACGGGATCTTGCCCAGAGGCCACAGGGAAGGCCAGGGTGCACCCAGATCCTTCTTGGCCTGGCGCTGGGCTTCTCAGGGAGCCAACACTGTGGCCACAGCTGCTCTGCCCTGGGTGGACACTAGGCTTTCCCTGTCCCCCTACTGCAGTGTCCTCAGATGGGGGTGGCCTGGTCCCCTGCAGAGGCACAGCCACCAATGCCCATGCATAGATGGGTCCATACAGGGACGAACACAGGACAGGAGGCTGCAACAGGATCCGGTTTATTCTGCCTTGGCAGGGTGGTCCTGAGAGTGGTGGGTGCCACCCTGTCCGGGGCGGAGAGAGGGCCCGAGGGCCAGTTAAGGCCAATGGCGGGAGAAGCAGGGGGCTGCAGCCCCTGGAATGCGGTGAAGCCAGGCCGAGGCCCGGAGGCAGCTGTGGTAGGCCAGGGCAGGGTGGAAGGCACCGGACTGGGACCGGGCCAGGGCTACAGGGCCGAGGACCCAGGCCACACGGGCACCCCGGGAGGCGGGGCACAGGGTCACGTGACACAGAACATGAAACACAGGCACAGGGTCATAGGCCAGATGCACATCCAGCCATGGCTGGGCCAGACACTGGGACACAGTGGTGGTGTCACACACAGACCACAGGGGGGACACATGGATTTGACAGCCACAATGCACAGACCAGGCTACAGAGCTCGAGGGACGTGGGAAGGGGCCTTTTGGCACTACTGCACTGGAATCGTGAGACAAAGGTAGCAGGACACTCTGGCGGTGCCTGGGGCGGTCCCCTTGCGGCCTCTCTAGGCTTAGTCCGTCTTCCACACTTTGTTGAGCAGCTTCACCACTTCATCATAGATGACAAACACTATGGCCACATCCAGGCAGACCCGGCCCAGGCGGGGGACAGTGCCCTTGTAGAATCTGGGTGGGAGGAGGGGCGGGGAGAGGAAGGCAGGTCAGCACAGTGTCCCTGCACAGGGCAATCCCCAGATACTGAAGTGAGAGGCACAGAGGCCTGAAGGGGACAGAGTGGGCAGGCCAGGTAGGCCGGGAAAGGTTTGAGGTGGGGACAATAGCCCTGCCCCTCCCCCACTCACGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTCCAGGCCCTATGGGGGACATCAGCAGGCAGGGGCTCAGCAGCTAGCTCTGGCCTGGTCCCCCCTTCCCCTCCCCTTCCCGGCCCCACCACCTGCATCCGGGTCTTAATCACATCCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAGACTCCCGCCCGGCCGCTGGCGCTCGGGCCCCTCCCCCGTCCCGGACTTCGGTCGGCGCGGCCGCCGCGCCAGTGCCGCGGGGAACATAGGCTGGGGCCCCACGCCCCCATGCCCTCACCCCGTTGTCCCGGCGAGGCGCAGGGGGTGACAGACGGGAGGCGGGCGAGTCCCAGCGCGCCGGGTGGGGACCAGGACCGCGCCTCCACGACTCCCCAGCCCACGGCCCAACCCGGAAGTGGGGCGGGGCCTCAGCGTCCCGGGCCCACCCAGAAGCGCGGCGGGAGAGGGGTCCGCGTCCCGGAGGGGCCCACCTGCCAGGATCGCCTTCCCCGGGTGCGTCAGCTTGGCCTTCCCGGACGCGGGC | CCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGCTGTGGAAAGAGGGGCTTGGCCCCATGGGGACATGCCAGTTCAGAGCTCTGGCCTCCAGCCAGAGGGACACCTTTCTCTGAGGCTCATGGCTGTGGCATGAGGTGCCCAGAGAGCCCTGGTCAGGCAGCCCCACCTCCTGCTGCCCCAGGGCAGCTGCCTCCCAGCCCAGGTGAAGGAACAAGGGAGGGCCCCTGCCCAGAGCCTTTGGGTAGCAGATGCCAGACACCCACCCCCACCTGGAGTTCAGAGGCCTCAACGTGCCCCCATCTCCTCCTCCCCACGAGCAGCCCATTTCACTCACTGAGGAGCTGGGCATACCCCAGAGGGGCCCTGGGCAACCCAACCCTTCCCTAAGCTTCCCTGTGGGTGAGGGGCAGGCAGTCGTCCTGGGGGCTCCATCTCCTGGGCCCAGCCCCCTGCTCTGAACACTCTGCCAGGCCACCCCTAGGCCTTGTCAACACACCCTTTTACCCATGCCACGGGATCTTGCCCAGAGGCCACAGGGAAGGCCAGGGTGCACCCAGATCCTTCTTGGCCTGGCGCTGGGCTTCTCAGGGAGCCAACACTGTGGCCACAGCTGCTCTGCCCTGGGTGGACACTAGGCTTTCCCTGTCCCCCTACTGCAGTGTCCTCAGATGGGGGTGGCCTGGTCCCCTGCAGAGGCACAGCCACCAATGCCCATGCATAGATGGGTCCATACAGGGACGAACACAGGACAGGAGGCTGCAACAGGATCCGGTTTATTCTGCCTTGGCAGGGTGGTCCTGAGAGTGGTGGGTGCCACCCTGTCCGGGGCGGAGAGAGGGCCCGAGGGCCAGTTAAGGCCAATGGCGGGAGAAGCAGGGGGCTGCAGCCCCTGGAATGCGGTGAAGCCAGGCCGAGGCCCGGAGGCAGCTGTGGTAGGCCAGGGCAGGGTGGAAGGCACCGGACTGGGACCGGGCCAGGGCTACAGGGCCGAGGACCCAGGCCACACGGGCACCCCGGGAGGCGGGGCACAGGGTCACGTGACACAGAACATGAAACACAGGCACAGGGTCATAGGCCAGATGCACATCCAGCCATGGCTGGGCCAGACACTGGGACACAGTGGTGGTGTCACACACAGACCACAGGGGGGACACATGGATTTGACAGCCACAATGCACAGACCAGGCTACAGAGCTCGAGGGACGTGGGAAGGGGCCTTTTGGCACTACTGCACTGGAATCGTGAGACAAAGGTAGCAGGACACTCTGGCGGTGCCTGGGGCGGTCCCCTTGCGGCCTCTCTAGGCTTAGTCCGTCTTCCACACTTTGTTGAGCAGCTTCACCACTTCATCATAGATGACAAACACTATGGCCACATCCAGGCAGACCCGGCCCAGGCGGGGGACAGTGCCCTTGTAGAATCTGGGTGGGAGGAGGGGCGGGGAGAGGAAGGCAGGTCAGCACAGTGTCCCTGCACAGGGCAATCCCCAGATACTGAAGTGAGAGGCACAGAGGCCTGAAGGGGACAGAGTGGGCAGGCCAGGTAGGCCGGGAAAGGTTTGAGGTGGGGACAATAGCCCTGCCCCTCCCCCACTCACGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTCCAGGCCCTATGGGGGACATCAGCAGGCAGGGGCTCAGCAGCTAGCTCTGGCCTGGTCCCCCCTTCCCCTCCCCTTCCCGGCCCCACCACCTGCATCTGGGTCTTAATCACATCCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAGACTCCCGCCCGGCCGCTGGCGCTCGGGCCCCTCCCCCGTCCCGGACTTCGGTCGGCGCGGCCGCCGCGCCAGTGCCGCGGGGAACATAGGCTGGGGCCCCACGCCCCCATGCCCTCACCCCGTTGTCCCGGCGAGGCGCAGGGGGTGACAGACGGGAGGCGGGCGAGTCCCAGCGCGCCGGGTGGGGACCAGGACCGCGCCTCCACGACTCCCCAGCCCACGGCCCAACCCGGAAGTGGGGCGGGGCCTCAGCGTCCCGGGCCCACCCAGAAGCGCGGCGGGAGAGGGGTCCGCGTCCCGGAGGGGCCCACCTGCCAGGATCGCCTTCCCCGGGTGCGTCAGCTTGGCCTTCCCGGACGCGGGC 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Task1_train_28592 | This genomic variant is located on Chromosome 22, within the GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGCGACTTCGTGAAGCTGCGCAACATGCTCATCCGCACGCATATGCACGACCTCAAGGACGTGACGTGCGACGTGCACTACGAGAACTACCGCGCGCACTGCATCCAGCAGATGACCAGGTGCGCGCCCCAGCCGCGAGCCAGACCTCGCCCCTCTGGCCCCGCCCACGTCTCCATAACTGAGGGCCGGTCCTGTCAGCCCACCCAGACTTGAACTTTGCACCATTCCCTAAGCCCCCCCCCTCCCCCAGAGCCTGGTCTCCCTAGAACCAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGT 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AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGCGACTTCGTGAAGCTGCGCAACATGCTCATCCGCACGCATATGCACGACCTCAAGGACGTGACGTGCGACGTGCACTACGAGAACTACCGCGCGCACTGCATCCAGCAGATGACCAGGTGCGCGCCCCAGCCGCGAGCCAGACCTCGCCCCTCTGGCCCCGCCCACGTCTCCATAACTGAGGGCCGGTCCTGTCAGCCCACCCAGACTTGAACTTTGCACCATTCCCTAAGCCCCCCCCCTCCCCCAGAGCCTGGTCTCCCTAGAACCAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCGTGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGT 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Task1_train_28593 | This sequence variant lies in GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bernard Soulier syndrome | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGCGACTTCGTGAAGCTGCGCAACATGCTCATCCGCACGCATATGCACGACCTCAAGGACGTGACGTGCGACGTGCACTACGAGAACTACCGCGCGCACTGCATCCAGCAGATGACCAGGTGCGCGCCCCAGCCGCGAGCCAGACCTCGCCCCTCTGGCCCCGCCCACGTCTCCATAACTGAGGGCCGGTCCTGTCAGCCCACCCAGACTTGAACTTTGCACCATTCCCTAAGCCCCCCCCCTCCCCCAGAGCCTGGTCTCCCTAGAACCAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGT 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AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGCGACTTCGTGAAGCTGCGCAACATGCTCATCCGCACGCATATGCACGACCTCAAGGACGTGACGTGCGACGTGCACTACGAGAACTACCGCGCGCACTGCATCCAGCAGATGACCAGGTGCGCGCCCCAGCCGCGAGCCAGACCTCGCCCCTCTGGCCCCGCCCACGTCTCCATAACTGAGGGCCGGTCCTGTCAGCCCACCCAGACTTGAACTTTGCACCATTCCCTAAGCCCCCCCCCTCCCCCAGAGCCTGGTCTCCCTAGAACCAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCTTGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGT 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Task1_train_28594 | Chromosome 22 houses a mutation in gene GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bernard Soulier syndrome | GAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCT 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GAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTGCCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCT 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Task1_train_28595 | Here’s a variant in GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Macrothrombocytopenia, familial, Bernard-Soulier type | TCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGC 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TCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGCCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGC 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Task1_train_28596 | The gene GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bernard Soulier syndrome | CCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACGCGATGAGGACGCTGTGGACGCTGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGT 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CCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCCGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACGCGATGAGGACGCTGTGGACGCTGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGT 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Task1_train_28597 | A mutation on Chromosome 22 affecting TBX1 (T-box transcription factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Conotruncal anomaly face syndrome | CTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCCCGCGGGACTCGCCCGCCCGCCCCGCAGCCCCAGGACGCCGCGCGGCCCAGAAACCGGCCCGGCTTGGGGCGCACCCGGCTGGGGGCAGGCAGCGGCGTCCAGGGGGCCTCACCGCCCGGCCGACTCCTAGTAAATCCCACCTCAAGAAAACTCTGGTTCAGTTCTGGAGTTCAGTCTATGCGGGCAAGATAAAGAGCGGCAGCCGGGCAACTCTCTGGACACTTTCAGGAGAGGATTACCCTTAAAAACAGCGTGCACTGTTGCGTGGAAGTTGCTACCCAGTTTCCTTCAACCTAGATCCCTATAGTTGTGGGGCCTGGCTCTGTATCCAGCGGCCCGTCACCTCCCAACCGGCCTGTATTTGTTTTAAAGACCAAGAGACAAGGGGAACAAGTTTTGCAGATGCACCCGATTTGACCGGTAGACAAAGGCGGGTGCCGCGCTGTGTCTAATGTACACACCAGCTCGGAGTCCGAACAGCCAAGGGGAGCTCAGGGCCTGTTTGCAAAGCCTTCTCGTGGTTTCTGTTTCCCTGCTGCCGGCGTCCTTTCTGAGGAACCTGGGCCTGTGCTCTGCTCCAGCTCTGTGGTTTTTTTCCAGGCCCTCCTTGCTGTCCCCAGGCACACAGGCCCTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAGATGGAGCCCAAGGGCTGGGACGACACAGCAGCCCCCAGAGGCTGGAGGGAGGGGCCGAGCAGAGGGGCCGCCAGCCCCAGGCAGGTCAAGGGGGGCTGCCTTCCACCAGCTAGGGTGACCCAAGGCCTCATCACCCCCAGGCGGATGTTTCCCACCTTCCAAGTGAAGCTCTTCGGCATGGATCCCATGGCCGACTATATGCTGCTCATGGACTTCGTGCCGGTGGACGATAAGCGCTACCGGTGAGCGAGTGGTTGTAAGCGTGAGGGACCGGGAGGGCACCCTGGAAAGTGGCGGGTCTCCGCCTGGTGACCCAACTCCAAGGGTCGTCTGCACCATGAAACTCTTTAGGCACCTGCGATGCTGCCCGATCAACCCGCTCCCTCCTCCACTCCCATCTGACCCCAGACCCACAACCCTACTCCATGCCCTCTCAGAACCCGCCTCTGGAGCCGCAGGCTGCAGACAGCTCTTGCTCCCCTGGGCTGGTGTGGCCCTAGGGTGGTCAGCCAAGTACTCAGCCCCGGACTTCTTCAAGTCTCCCTCTCCCAGGAGGCCGGCCTGAGCGCCTAGTCCCCTTCCCCCATCCCCAGGGAACTCTGGATCCTGGAGCTGGGCCGGAAAGGTGGGGTGGCCAGGAGAGATTATGCAGGGCGGGCCTCAGCTGCCCGGACAATTAACAGCAATTAATAAAGAGAACGCGCACTGCCCTGTGCCTGAGGCCCGGCAAGGCCAAGTGTGGGCTCCCACCGCAGCGGCACCGGGGCGGGAGGACCCGCATCCAGCGAAATGAGATGGCAGGAGCCCAGCCTCCCCCTCTCGGTGCCCCACAGGGTGTCCAGTTCCTTGATTGTTTTGAGTGTTGGGGTGGGTGGGAGTTCTCTGTTTAGTCCATAGTCCCCCTTGGAAAAGCTCCCAGCACATGCGGCAGCAGAGGGTTCAATCTCACAGGTGGGGAAACTTCTCAAAGGCACTTTTAGGGTTCGCCCAGCACACGGGTCAAGGCCCTCTGGGTTCACCTCCACATGCACGACCCCACCCCGTGCCGCTCCAGGTACGCCTTCCACAGCTCCTCCTGGCTGGTGGCGGGGAAGGCCGACCCTGCCACGCCAGGCCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGCAGTGGATGAAGCAAATCGTGTCCTTCGACAAGCTCAAGCTGACCAACAACCTACTGGACGACAACGGCCACGTGAGCGACTGCCTCCCCAGGCTCCGGTGTCCCCCAAGGCCTCGAGTCCCGAGGCACCCGCCTGTCCCTAAGAGGCCTGTAGAATCCCCAGGCCCCCGGCTGTCCCCAGGCGGCTCTGGGCTGTCCCCGAGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTG 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CTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCCCGCGGGACTCGCCCGCCCGCCCCGCAGCCCCAGGACGCCGCGCGGCCCAGAAACCGGCCCGGCTTGGGGCGCACCCGGCTGGGGGCAGGCAGCGGCGTCCAGGGGGCCTCACCGCCCGGCCGACTCCTAGTAAATCCCACCTCAAGAAAACTCTGGTTCAGTTCTGGAGTTCAGTCTATGCGGGCAAGATAAAGAGCGGCAGCCGGGCAACTCTCTGGACACTTTCAGGAGAGGATTACCCTTAAAAACAGCGTGCACTGTTGCGTGGAAGTTGCTACCCAGTTTCCTTCAACCTAGATCCCTATAGTTGTGGGGCCTGGCTCTGTATCCAGCGGCCCGTCACCTCCCAACCGGCCTGTATTTGTTTTAAAGACCAAGAGACAAGGGGAACAAGTTTTGCAGATGCACCCGATTTGACCGGTAGACAAAGGCGGGTGCCGCGCTGTGTCTAATGTACACACCAGCTCGGAGTCCGAACAGCCAAGGGGAGCTCAGGGCCTGTTTGCAAAGCCTTCTCGTGGTTTCTGTTTCCCTGCTGCCGGCGTCCTTTCTGAGGAACCTGGGCCTGTGCTCTGCTCCAGCTCTGTGGTTTTTTTCCAGGCCCTCCTTGCTGTCCCCAGGCACACAGGCCCTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAGATGGAGCCCAAGGGCTGGGACGACACAGCAGCCCCCAGAGGCTGGAGGGAGGGGCCGAGCAGAGGGGCCGCCAGCCCCAGGCAGGTCAAGGGGGGCTGCCTTCCACCAGCTAGGGTGACCCAAGGCCTCATCACCCCCAGGCGGATGTTTCCCACCTTCCAAGTGAAGCTCTACGGCATGGATCCCATGGCCGACTATATGCTGCTCATGGACTTCGTGCCGGTGGACGATAAGCGCTACCGGTGAGCGAGTGGTTGTAAGCGTGAGGGACCGGGAGGGCACCCTGGAAAGTGGCGGGTCTCCGCCTGGTGACCCAACTCCAAGGGTCGTCTGCACCATGAAACTCTTTAGGCACCTGCGATGCTGCCCGATCAACCCGCTCCCTCCTCCACTCCCATCTGACCCCAGACCCACAACCCTACTCCATGCCCTCTCAGAACCCGCCTCTGGAGCCGCAGGCTGCAGACAGCTCTTGCTCCCCTGGGCTGGTGTGGCCCTAGGGTGGTCAGCCAAGTACTCAGCCCCGGACTTCTTCAAGTCTCCCTCTCCCAGGAGGCCGGCCTGAGCGCCTAGTCCCCTTCCCCCATCCCCAGGGAACTCTGGATCCTGGAGCTGGGCCGGAAAGGTGGGGTGGCCAGGAGAGATTATGCAGGGCGGGCCTCAGCTGCCCGGACAATTAACAGCAATTAATAAAGAGAACGCGCACTGCCCTGTGCCTGAGGCCCGGCAAGGCCAAGTGTGGGCTCCCACCGCAGCGGCACCGGGGCGGGAGGACCCGCATCCAGCGAAATGAGATGGCAGGAGCCCAGCCTCCCCCTCTCGGTGCCCCACAGGGTGTCCAGTTCCTTGATTGTTTTGAGTGTTGGGGTGGGTGGGAGTTCTCTGTTTAGTCCATAGTCCCCCTTGGAAAAGCTCCCAGCACATGCGGCAGCAGAGGGTTCAATCTCACAGGTGGGGAAACTTCTCAAAGGCACTTTTAGGGTTCGCCCAGCACACGGGTCAAGGCCCTCTGGGTTCACCTCCACATGCACGACCCCACCCCGTGCCGCTCCAGGTACGCCTTCCACAGCTCCTCCTGGCTGGTGGCGGGGAAGGCCGACCCTGCCACGCCAGGCCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGCAGTGGATGAAGCAAATCGTGTCCTTCGACAAGCTCAAGCTGACCAACAACCTACTGGACGACAACGGCCACGTGAGCGACTGCCTCCCCAGGCTCCGGTGTCCCCCAAGGCCTCGAGTCCCGAGGCACCCGCCTGTCCCTAAGAGGCCTGTAGAATCCCCAGGCCCCCGGCTGTCCCCAGGCGGCTCTGGGCTGTCCCCGAGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTG 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Task1_train_28598 | This variant affects the gene TBX1 (T-box transcription factor 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Velocardiofacial syndrome | CTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAGATGGAGCCCAAGGGCTGGGACGACACAGCAGCCCCCAGAGGCTGGAGGGAGGGGCCGAGCAGAGGGGCCGCCAGCCCCAGGCAGGTCAAGGGGGGCTGCCTTCCACCAGCTAGGGTGACCCAAGGCCTCATCACCCCCAGGCGGATGTTTCCCACCTTCCAAGTGAAGCTCTTCGGCATGGATCCCATGGCCGACTATATGCTGCTCATGGACTTCGTGCCGGTGGACGATAAGCGCTACCGGTGAGCGAGTGGTTGTAAGCGTGAGGGACCGGGAGGGCACCCTGGAAAGTGGCGGGTCTCCGCCTGGTGACCCAACTCCAAGGGTCGTCTGCACCATGAAACTCTTTAGGCACCTGCGATGCTGCCCGATCAACCCGCTCCCTCCTCCACTCCCATCTGACCCCAGACCCACAACCCTACTCCATGCCCTCTCAGAACCCGCCTCTGGAGCCGCAGGCTGCAGACAGCTCTTGCTCCCCTGGGCTGGTGTGGCCCTAGGGTGGTCAGCCAAGTACTCAGCCCCGGACTTCTTCAAGTCTCCCTCTCCCAGGAGGCCGGCCTGAGCGCCTAGTCCCCTTCCCCCATCCCCAGGGAACTCTGGATCCTGGAGCTGGGCCGGAAAGGTGGGGTGGCCAGGAGAGATTATGCAGGGCGGGCCTCAGCTGCCCGGACAATTAACAGCAATTAATAAAGAGAACGCGCACTGCCCTGTGCCTGAGGCCCGGCAAGGCCAAGTGTGGGCTCCCACCGCAGCGGCACCGGGGCGGGAGGACCCGCATCCAGCGAAATGAGATGGCAGGAGCCCAGCCTCCCCCTCTCGGTGCCCCACAGGGTGTCCAGTTCCTTGATTGTTTTGAGTGTTGGGGTGGGTGGGAGTTCTCTGTTTAGTCCATAGTCCCCCTTGGAAAAGCTCCCAGCACATGCGGCAGCAGAGGGTTCAATCTCACAGGTGGGGAAACTTCTCAAAGGCACTTTTAGGGTTCGCCCAGCACACGGGTCAAGGCCCTCTGGGTTCACCTCCACATGCACGACCCCACCCCGTGCCGCTCCAGGTACGCCTTCCACAGCTCCTCCTGGCTGGTGGCGGGGAAGGCCGACCCTGCCACGCCAGGCCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGCAGTGGATGAAGCAAATCGTGTCCTTCGACAAGCTCAAGCTGACCAACAACCTACTGGACGACAACGGCCACGTGAGCGACTGCCTCCCCAGGCTCCGGTGTCCCCCAAGGCCTCGAGTCCCGAGGCACCCGCCTGTCCCTAAGAGGCCTGTAGAATCCCCAGGCCCCCGGCTGTCCCCAGGCGGCTCTGGGCTGTCCCCGAGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGAC 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CTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAGATGGAGCCCAAGGGCTGGGACGACACAGCAGCCCCCAGAGGCTGGAGGGAGGGGCCGAGCAGAGGGGCCGCCAGCCCCAGGCAGGTCAAGGGGGGCTGCCTTCCACCAGCTAGGGTGACCCAAGGCCTCATCACCCCCAGGCGGATGTTTCCCACCTTCCAAGTGAAGCTCTTCGGCATGGATCCCATGGCCGACTATATGCTGCTCATGGACTTCGTGCCGGTGGACGATAAGCGCTACCGGTGAGCGAGTGGTTGTAAGCGTGAGGGACCGGGAGGGCACCCTGGAAAGTGGCGGGTCTCCGCCTGGTGACCCAACTCCAAGGGTCGTCTGCACCATGAAACTCTTTAGGCACCTGCGATGCTGCCCGATCAACCCGCTCCCTCCTCCACTCCCATCTGACCCCAGACCCACAACCCTACTCCATGCCCTCTCAGAACCCGCCTCTGGAGCCGCAGGCTGCAGACAGCTCTTGCTCCCCTGGGCTGGTGTGGCCCTAGGGTGGTCAGCCAAGTACTCAGCCCCGGACTTCTTCAAGTCTCCCTCTCCCAGGAGGCCGGCCTGAGCGCCTAGTCCCCTTCCCCCATCCCCAGGGAACTCTGGATCCTGGAGCTGGGCCGGAAAGGTGGGGTGGCCAGGAGAGATTATGCAGGGCGGGCCTCAGCTGCCCGGACAATTAACAGCAATTAATAAAGAGAACGCGCACTGCCCTGTGCCTGAGGCCCGGCAAGGCCAAGTGTGGGCTCCCACCGCAGCGGCACCGGGGCGGGAGGACCCGCATCCAGCGAAATGAGATGGCAGGAGCCCAGCCTCCCCCTCTCGGTGCCCCACAGGGTGTCCAGTTCCTTGATTGTTTTGAGTGTTGGGGTGGGTGGGAGTTCTCTGTTTAGTCCATAGTCCCCCTTGGAAAAGCTCCCAGCACATGCGGCAGCAGAGGGTTCAATCTCACAGGTGGGGAAACTTCTCAAAGGCACTTTTAGGGTTCGCCCAGCACACGGGTCAAGGCCCTCTGGGTTCACCTCCACATGCACGACCCCACCCCGTGCCGCTCCAGGTACGCCTTCCACAGCTCCTCCTGGCTGGTGGCGGGGAAGGCCGACCCTGCCACGCCAGGCCGCGTGCAGTACCACCCGGACTCGCCTGCCAAGGGCGCGCAGTGGATGAAGCAAATCGTGTCCTTCGACAAGCTCAAGCTGACCAACAACCTACTGGACGACAACGGCCACGTGAGCGACTGCCTCCCCAGGCTCCGGTGTCCCCCAAGGCCTCGAGTCCCGAGGCACCCGCCTGTCCCTAAGAGGCCTGTAGAATCCCCAGGCCCCCGGCTGTCCCCAGGCGGCTCTGGGCTGTCCCCGAGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGAC 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Task1_train_28599 | Given this context: Chromosome 22, gene TANGO2 (transport and golgi organization 2 homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | TTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTAATCACACTAAGGATTTTAAAAATGCTGTTATAAATGGTATATTTAAATGCTCACTTTCCAGTTCTTGCTAGCATTTACTTATTAGTTCTAATACATCGGTTTTGGTATTCCTTTTGGGTTTTCTTCATATATGATCCTGCTGGTTGCAAATACAGTTTTGTTGGGTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTGAGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCCCCCGAGTAGCTGGGATTATAGGCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATCTTTAATAGAAATGGTGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGTGTGAGTCACCGCACGGGGCCACAAATACAGTTTTATTTCTTTATTTTTGATCTTTACATCTTTTCTTTTTCTGTTATAATTAATTATTGTTATAAAAATAATATCTTAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGACGCCAAGGCGGACGGATCACCTGAGGTTGGGAATTCGAGACCAGCCTGGCCAACATGGAGAAACTCCGTTTCTACTAAAAATACAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATGGTACCTGCCTGTGGTCCCAGCTACTTGGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAACTGTGTGATTGCCACTGAACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAATGAAATAAAATAATAAAAATAACATCTTAATGACAGCCTTTTTTGCCCCAATCTTTGGGTAAAATGACCCCCTGGTCTAAGAAGGAGCCCTCCTGTGGCTTTCAGAGCCCTCCAACCTTGTGGCATTAGCAGTGGCCCATGCCCTGCAGATTTGGCGGGGGTGAAGGTCCTGGTTGTGTGCTGGGCTCCTAGTGAAGGGCCTGCCCTTTGGGCCTGGTGCATCCTGCTGGGTGAGGACAGCCAGCGTCCCTGCACCCCATTCATGCGATTGGAGCCTAGTGCTGCCCCTCAGCCTTGACGCTGGCCCAAGTGGAAGGATGTGTTCTGCAGGGCATCTGTTGGGATAGGTGTGGTTGGTGTCATAGTTGTCCTGCAGGACAGGGATCTCACTTGCACGACCCATGAACCCCAGGGGCTGCCTGGCCTTGAAGAGTTCCAGCCACGATTCCATAGCTGGGGCTGCTGGGCCAAGCCGCATGTCGAACGTCCTCGAGGAGCTTGAGGCAGGAGCTGGGCCGAGTATGCGTCTCCCAGGGCTGGGAACCAGGTGGGGGACTGGAATGGGTGGCATCAATGGTGGTAACACTGTCATCTGCCACAGGGCTGGACATGGAGGAAGGCAAGGAAGGAGGCACATGGCTGGGCATCAGCACACGTGGCAAGCTGGCAGCACTCACCAACTACCTGCAGCCGCAGCTGGACTGGCAGGCCCGAGGGCGAGGTAAGGCGAGTGGGGTGGGGCCAAGGTGAGACAGGGTGGGGTGGGGCAGGCCTAGGTGAGACAAGGTGGGGCCAAGGGACTACAGGACTGGCCAATGTATGGTGGAGTGGGGCGGGCCAAGGTAGGAAGTGCCAAGGTGCTTGTGCTTGGGAGTGGGATGGGGCAGGGCTGAGGTACCGTGGGGCAGGGCCAGGTTACAGAGTGGGCGGTGACAAAGCGTGGCAGGGCAGGGCCCAGGTAAGGGTGGGGACAAGAAGGGGGAAGCTGGGCCCCGTGGCAGGTGGGTGGCTTCCGTGGGCATATCACTGCCGCCACTGAGGTGTGCTGCAGGGGTATGCGGCAGAGACAGGAAGAGTGAGGAGGGGAGCATCCCATTTCCCACACCCTGGCCCTCTGGCGTCGCAGCCAGGAGCCCACTCCCACCTGACCCACGCAGCACTGTTTACTCCTCTCAGGGCGCACTCTCCCCTTGTCCTCATGCATGGCACTCCTGACTGCTGTGTCACTGTCCCCTGCCTGGAATGTTTGTAGAGTAGATGCCTTCCCCGAGACGACAGCTCTGTGGACACACATTGTCCCCACTGAAAGGTGTTGTTTACTTCATGCTGGATTTCCATAGGAAGACATAGTGGGGAAATTTTTTTTTTAATAAAATGAGCAGTTTTCAGTGCCGACCTGAGTGGCAGCCAGGCTAATGAGGTGTGGCTGACTCTTGCGGCAGTCATGACAGGCCAGGGCTCCAGTGGGACCCCTCATCTTCCTGCATCCTCCCCAGGGGGCCCCATATCAGTGTTCCTGGGAGAAGAGCACATGCCTGCAGCTGTGGACACAGCATCTGTCCCCTGCCTACAGGTGAACTTGTCACCCACTTTCTGACCACTGACGTGGACAGCTTGTCCTACCTGAAGAAGGTCTCTATGGAGGGCCATCTGTACAATGGCTTCAACCTCATAGCAGCCGACCTGAGGTGGGTCTGCCAGAGGGGGATGGCGGCTCTGCCCAGCACTGCCTCGGGGGCAGGCCTCAGGCTCATCAGGAAGTGGGGTTCCACTGGGGGCTGTGGCAGCCTCTCCAGGGACGTTGCTCCTCGTGACTTGGCAAACATTCTGAGGACTGAGCCTGTCACAGATGTACCAACTCGGGTATTTGGGGGTGAAGCCCAAGGCTTCCTGTGATGGCATGAGGGCTGCCGGATCCCTGGAGAAAGCTGAGGCTGTGAAGAACAGTCACATAGAGTGGCTCTGGCCGGGTGTCCTCCCTCCCACGGGCAGGCTGTGCAGAGCAGCCCTCCGCAGCCCTGGCTTGGAGTGACTGGGATGCTGTGCTCCCAGGGAAGCTCCTGTTGGAGATGAGGCCGCAGGAACTGCGGAGGTTTTGGTGTTTTGCCCTTCCGTGAAGTGAGCATTCCTCCCTCCTGCCCTCCTCCCCCTCCAAAGCCCCAGAACTTGGCCAATGCTGTTAGTCCGGGGCCTTCTGCCAGGACAGGCAAACGGGAAGTGGTCGGCACATTGTGGCGGGCCCTGAAGCTGCCTCCTTCCACAAGGGCAGGTCCATGGGCCTCTCTCCTGGCTCCCGAGCTCCAGGCCTGCTGTTCGTTGAGCATCCCTTGTGTGTGGCATGCCCAGCCCTGCCCCACATGGGTCTGCACACTTGCTATGGAGGCTGGGAGAGTTGCAGTGTCCCCTAGGTGGAAGGCCGAGGGCTGGTGCGGGGCACTTGCTGTCCGGAGCCGTTCTTCCTGCCCATGCCTTCGTGACTCCAGGTGGCAGAGCCCCTGTGCTCTCTGCATGCCCCCATGCTCAGGAACCACTTTTCCCGGTCAGTAGTTCCATGTGGGTCTGATTAGTCTCAGGAGAGTTCCTCTGCGGCCGTGGCACCAGCAGGACTTGGCACTCAGCAGCTGTGTGGAGGTGGGGTGCCAAGGGTGCCATGCCTTGAGCAGATACACGGGCTCCTGTGGTTGGGGGTTGGGGGTTTGGGCTCCTCAGAGCCTGTGCAACTCTCCCGGCTCCAAAGGCTGCAGAGTGAGGGTCAGCCTCCTGGA 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TTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTAATCACACTAAGGATTTTAAAAATGCTGTTATAAATGGTATATTTAAATGCTCACTTTCCAGTTCTTGCTAGCATTTACTTATTAGTTCTAATACATCGGTTTTGGTATTCCTTTTGGGTTTTCTTCATATATGATCCTGCTGGTTGCAAATACAGTTTTGTTGGGTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTGAGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCCCCCGAGTAGCTGGGATTATAGGCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATCTTTAATAGAAATGGTGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGTGTGAGTCACCGCACGGGGCCACAAATACAGTTTTATTTCTTTATTTTTGATCTTTACATCTTTTCTTTTTCTGTTATAATTAATTATTGTTATAAAAATAATATCTTAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGACGCCAAGGCGGACGGATCACCTGAGGTTGGGAATTCGAGACCAGCCTGGCCAACATGGAGAAACTCCGTTTCTACTAAAAATACAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATGGTACCTGCCTGTGGTCCCAGCTACTTGGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAACTGTGTGATTGCCACTGAACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAATGAAATAAAATAATAAAAATAACATCTTAATGACAGCCTTTTTTGCCCCAATCTTTGGGTAAAATGACCCCCTGGTCTAAGAAGGAGCCCTCCTGTGGCTTTCAGAGCCCTCCAACCTTGTGGCATTAGCAGTGGCCCATGCCCTGCAGATTTGGCGGGGGTGAAGGTCCTGGTTGTGTGCTGGGCTCCTAGTGAAGGGCCTGCCCTTTGGGCCTGGTGCATCCTGCTGGGTGAGGACAGCCAGCGTCCCTGCACCCCATTCATGCGATTGGAGCCTAGTGCTGCCCCTCAGCCTTGACGCTGGCCCAAGTGGAAGGATGTGTTCTGCAGGGCATCTGTTGGGATAGGTGTGGTTGGTGTCATAGTTGTCCTGCAGGACAGGGATCTCACTTGCACGACCCATGAACCCCAGGGGCTGCCTGGCCTTGAAGAGTTCCAGCCACGATTCCATAGCTGGGGCTGCTGGGCCAAGCCGCATGTCGAACGTCCTCGAGGAGCTTGAGGCAGGAGCTGGGCCGAGTATGCGTCTCCCAGGGCTGGGAACCAGGTGGGGGACTGGAATGGGTGGCATCAATGGTGGTAACACTGTCATCTGCCACAGGGCTGGACATGGAGGAAGGCAAGGAAGGAGGCACATGGCTGGGCATCAGCACACGTGGCAAGCTGGCAGCACTCACCAACTACCTGCAGCCGCAGCTGGACTGGCAGGCCCGAGGGTGAGGTAAGGCGAGTGGGGTGGGGCCAAGGTGAGACAGGGTGGGGTGGGGCAGGCCTAGGTGAGACAAGGTGGGGCCAAGGGACTACAGGACTGGCCAATGTATGGTGGAGTGGGGCGGGCCAAGGTAGGAAGTGCCAAGGTGCTTGTGCTTGGGAGTGGGATGGGGCAGGGCTGAGGTACCGTGGGGCAGGGCCAGGTTACAGAGTGGGCGGTGACAAAGCGTGGCAGGGCAGGGCCCAGGTAAGGGTGGGGACAAGAAGGGGGAAGCTGGGCCCCGTGGCAGGTGGGTGGCTTCCGTGGGCATATCACTGCCGCCACTGAGGTGTGCTGCAGGGGTATGCGGCAGAGACAGGAAGAGTGAGGAGGGGAGCATCCCATTTCCCACACCCTGGCCCTCTGGCGTCGCAGCCAGGAGCCCACTCCCACCTGACCCACGCAGCACTGTTTACTCCTCTCAGGGCGCACTCTCCCCTTGTCCTCATGCATGGCACTCCTGACTGCTGTGTCACTGTCCCCTGCCTGGAATGTTTGTAGAGTAGATGCCTTCCCCGAGACGACAGCTCTGTGGACACACATTGTCCCCACTGAAAGGTGTTGTTTACTTCATGCTGGATTTCCATAGGAAGACATAGTGGGGAAATTTTTTTTTTAATAAAATGAGCAGTTTTCAGTGCCGACCTGAGTGGCAGCCAGGCTAATGAGGTGTGGCTGACTCTTGCGGCAGTCATGACAGGCCAGGGCTCCAGTGGGACCCCTCATCTTCCTGCATCCTCCCCAGGGGGCCCCATATCAGTGTTCCTGGGAGAAGAGCACATGCCTGCAGCTGTGGACACAGCATCTGTCCCCTGCCTACAGGTGAACTTGTCACCCACTTTCTGACCACTGACGTGGACAGCTTGTCCTACCTGAAGAAGGTCTCTATGGAGGGCCATCTGTACAATGGCTTCAACCTCATAGCAGCCGACCTGAGGTGGGTCTGCCAGAGGGGGATGGCGGCTCTGCCCAGCACTGCCTCGGGGGCAGGCCTCAGGCTCATCAGGAAGTGGGGTTCCACTGGGGGCTGTGGCAGCCTCTCCAGGGACGTTGCTCCTCGTGACTTGGCAAACATTCTGAGGACTGAGCCTGTCACAGATGTACCAACTCGGGTATTTGGGGGTGAAGCCCAAGGCTTCCTGTGATGGCATGAGGGCTGCCGGATCCCTGGAGAAAGCTGAGGCTGTGAAGAACAGTCACATAGAGTGGCTCTGGCCGGGTGTCCTCCCTCCCACGGGCAGGCTGTGCAGAGCAGCCCTCCGCAGCCCTGGCTTGGAGTGACTGGGATGCTGTGCTCCCAGGGAAGCTCCTGTTGGAGATGAGGCCGCAGGAACTGCGGAGGTTTTGGTGTTTTGCCCTTCCGTGAAGTGAGCATTCCTCCCTCCTGCCCTCCTCCCCCTCCAAAGCCCCAGAACTTGGCCAATGCTGTTAGTCCGGGGCCTTCTGCCAGGACAGGCAAACGGGAAGTGGTCGGCACATTGTGGCGGGCCCTGAAGCTGCCTCCTTCCACAAGGGCAGGTCCATGGGCCTCTCTCCTGGCTCCCGAGCTCCAGGCCTGCTGTTCGTTGAGCATCCCTTGTGTGTGGCATGCCCAGCCCTGCCCCACATGGGTCTGCACACTTGCTATGGAGGCTGGGAGAGTTGCAGTGTCCCCTAGGTGGAAGGCCGAGGGCTGGTGCGGGGCACTTGCTGTCCGGAGCCGTTCTTCCTGCCCATGCCTTCGTGACTCCAGGTGGCAGAGCCCCTGTGCTCTCTGCATGCCCCCATGCTCAGGAACCACTTTTCCCGGTCAGTAGTTCCATGTGGGTCTGATTAGTCTCAGGAGAGTTCCTCTGCGGCCGTGGCACCAGCAGGACTTGGCACTCAGCAGCTGTGTGGAGGTGGGGTGCCAAGGGTGCCATGCCTTGAGCAGATACACGGGCTCCTGTGGTTGGGGGTTGGGGGTTTGGGCTCCTCAGAGCCTGTGCAACTCTCCCGGCTCCAAAGGCTGCAGAGTGAGGGTCAGCCTCCTGGA 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