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_2500
|
A change on Chromosome 1 affects gene TNNT2 (troponin T2, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Hypertrophic cardiomyopathy 2
|
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
|
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
|
Task1_train_2501
|
Gene TNNT2 (troponin T2, cardiac type), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Dilated cardiomyopathy 1D
|
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
|
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
|
Task1_train_2502
|
This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Cardiomyopathy, familial restrictive, 3
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
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Task1_train_2503
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Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Hypertrophic cardiomyopathy 2
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TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAG
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TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCTCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAG
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Task1_train_2504
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This gene mutation involves TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACT
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AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCAGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACT
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Task1_train_2505
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Chromosome 1 houses a mutation in gene TNNT2 (troponin T2, cardiac type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hypertrophic cardiomyopathy 2
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2506
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Located on Chromosome 1, this mutation impacts TNNT2 (troponin T2, cardiac type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2507
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The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Dilated cardiomyopathy 1D
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2508
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A variant was discovered on Chromosome 1, affecting TNNT2 (troponin T2, cardiac type). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cardiomyopathy
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2509
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Given this variant in gene TNNT2 (troponin T2, cardiac type) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2510
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A genomic change on Chromosome 1 affects TNNT2 (troponin T2, cardiac type). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2511
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A change on Chromosome 1 affects gene TNNT2 (troponin T2, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy 2
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2512
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A sequence alteration has been identified in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Dilated cardiomyopathy 1D
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2513
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A variant found in Chromosome 1 affects TNNT2 (troponin T2, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Cardiovascular phenotype
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2514
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Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Primary familial hypertrophic cardiomyopathy
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
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Task1_train_2515
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The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTC
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ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGAGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTC
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Task1_train_2516
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Mutation context: Chromosome 1, Gene TNNT2 (troponin T2, cardiac type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2517
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The gene TNNT2 (troponin T2, cardiac type) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Dilated cardiomyopathy 1D
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2518
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Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Hypertrophic cardiomyopathy 2
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2519
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A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2520
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Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cardiomyopathy
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2521
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An alteration has been detected in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Cardiovascular phenotype
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2522
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Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cardiomyopathy, familial restrictive, 3
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2523
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A mutation on Chromosome 1 affecting TNNT2 (troponin T2, cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Dilated cardiomyopathy 1D
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2524
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A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hypertrophic cardiomyopathy 2
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
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Task1_train_2525
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This alteration occurs within gene LMOD1 (leiomodin 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
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GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCC
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GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGTGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCC
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Task1_train_2526
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Here’s a variant in LMOD1 (leiomodin 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
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GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCCTGGCCCCTGCTTTTAAGGAGTAGGCCAATAGTTCTGAGATACAGAAATTTTATAAGGCAATACATTTCCAAAGGAAAAAAAGGTAGAGGGATCAACATATGCTAACATTTTATTTTACCAATTAAGGATATTTGTAAATTATTATCATTATTATTG
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GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCATGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCCTGGCCCCTGCTTTTAAGGAGTAGGCCAATAGTTCTGAGATACAGAAATTTTATAAGGCAATACATTTCCAAAGGAAAAAAAGGTAGAGGGATCAACATATGCTAACATTTTATTTTACCAATTAAGGATATTTGTAAATTATTATCATTATTATTG
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Task1_train_2527
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Here is a variant affecting UBE2T (ubiquitin conjugating enzyme E2 T) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Fanconi anemia complementation group T
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TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCGCAGTATTCTAATCATGTATGTTTCCCATCTGGCCTCACAGATATTTGAGATGGTTATCTTTGATCTAAACACTGCTTCACTGCTTTAAATCTTGGCTATAAATCAGCATAAGGTATAATAAAAAGTCAAAGAAGCAAGAAATGTCAAGCAAACCTTTTATAAATGTAAACAAATTTGGGTAGAAAGATGGTAGGGCACTCTGACCTTATAACTGCTCCTTACTTTAGAAGAATACACAAAATGTTTTATTTCAGCACAATCTTCAATAGGGTCATGACTTTCATCATATACATGATTTGATACCTACGAGCTCGCAGGTCATCCATTTGGTCTTTATCTTGCCAACATGTGATGCCTGGGGGTGGCTCTGTGGCTAACATGTGCAGCTCTCTCTTCAGACGTGAAGCTCTCTGCATGATCCCCAAGTAGAAGGAACCACACACAGTTCACTGCTCCACACTAAGAGCTGCCTGGGATGCACTGGAGGAGAAAAGAGGTGACCATAAAATCATCAGCAATAATGACTATGAAGTTTTCAGCAAACAGCTTCAATGTAGTGAGGGTGGGGGACAGAGTCCTCTTTTTTGTTTTGAGACACAGTTTCACTCTGTCACCCAGACTGGAGGGCAGTGACACCATCTCAGCTCACTGCAATTTCCACCTTCTGGGTTTGAGCAATTCTCATGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTCATTTTAGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAATGCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAATGCACCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCACCTGCTGGGCTTAAGTGATCCTCCCATCTCAGCCGCCTATGTAGCTGGAAGTACAGGTGTGTGCCACCACGCCAGTCCAAGATTCCTCTTATTAATCTCTATTCTGACAAGGGAATCTGAGTTTTTCCACTCCCTTCTTGTGAACGTTTATCTATACAAGCAAATATATTTTTAAAATAAAGAACTAAAAATGCAAAAAGTTCTACAAAAAATAAAAACACTAAAGGTTTTAAATAATGGGTGTTTCCACTGATAAATTATAAACTCATGAGGCCAGGCCTGGGTCTGATTTTGCTTACTATTGTAGCCTTAGCATGCCTGTCATAGTAAGGGATTTGACAAATATTTGCTGTTGTGAGGAAGTCTACATATGCTTTGTGAGAGCAAGAATGGTAGAGATAGTCAACATTCTCAGGTACAAACAAATGTTAAATGTCCGAGTTTCTCTCCATGTGCTATGGATTCCACCTTCTCCCAATCTTCAGGGATACCATTCCATCAATTATTCCATCTTTCTTACCCTCAATGTTCAAATATGCTCAAAGTCTCTCTCACCTAAAACCAACACCTACACACATATTCACCCAACACTCTTCTCAACTCTAGTTCTCTCTTTACTAACCAAGCAAAGGACACTAATCCCTTTTGTTTTTTAGACGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGCAGCTGGCATTACAGACGCCCGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCAGCCAACACCAATCCTTTAATGTGTTACAAATATCCCCCAGTTTGTGCTTATCTTTCCATGTTGTACATGGTGTCTTTCAATAAACACATACTCTTAACATAATCAATCTTAAAATCTCTTTCTTTACATTTATACTTTGTGTATTAAATTTTTCCTTACCCCCAAATGTAGAGATATTCCTACATAGCCTTCAAATATTTTATAATTTTGCTATTCAAATTTAAATATTGAATCCACTAGGAATTGAATTTTATGTATAGTGAGTGAGGTGGGGGTCCAATTTAAAGTTTTTCCCCATATGAATAGTCAATTGTTCTAACATCATTTACTGAATCAGTCCATCCTTTCCCTGCTGATATTACTATAAATTAAATTTCTATATGTGTGGATTTGTTTTGGGACTCTTGAATTTGTTCCACTGGTCAAGTGGATTATTTCTGAGACAATACTCCACTGTTTGAATTACTATAGCTTATTCATTTTTTATTATTTAAATTTTTTCCCAGCTTTACTGAGGTATAACTGGCAAATACAAATTGTATATATTTAAGGTGTACAATG
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TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCGCAGTATTCTAATCATGTATGTTTCCCATCTGGCCTCACAGATATTTGAGATGGTTATCTTTGATCTAAACACTGCTTCACTGCTTTAAATCTTGGCTATAAATCAGCATAAGGTATAATAAAAAGTCAAAGAAGCAAGAAATGTCAAGCAAACCTTTTATAAATGTAAACAAATTTGGGTAGAAAGATGGTAGGGCACTCTGACCTTATAACTGCTCCTTACTTTAGAAGAATACACAAAATGTTTTATTTCAGCACAATCTTCAATAGGGTCATGACTTTCATCATATACATGATTTGATACCTACGAGCTCGCAGGTCATCCATTTGGTCTTTATCTTGCCAACATGTGATGCCTGGGGGTGGCTCTGTGGCTAACATGTGCAGCTCTCTCTTCAGACGTGAAGCTCTCTCCATGATCCCCAAGTAGAAGGAACCACACACAGTTCACTGCTCCACACTAAGAGCTGCCTGGGATGCACTGGAGGAGAAAAGAGGTGACCATAAAATCATCAGCAATAATGACTATGAAGTTTTCAGCAAACAGCTTCAATGTAGTGAGGGTGGGGGACAGAGTCCTCTTTTTTGTTTTGAGACACAGTTTCACTCTGTCACCCAGACTGGAGGGCAGTGACACCATCTCAGCTCACTGCAATTTCCACCTTCTGGGTTTGAGCAATTCTCATGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTCATTTTAGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAATGCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAATGCACCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCACCTGCTGGGCTTAAGTGATCCTCCCATCTCAGCCGCCTATGTAGCTGGAAGTACAGGTGTGTGCCACCACGCCAGTCCAAGATTCCTCTTATTAATCTCTATTCTGACAAGGGAATCTGAGTTTTTCCACTCCCTTCTTGTGAACGTTTATCTATACAAGCAAATATATTTTTAAAATAAAGAACTAAAAATGCAAAAAGTTCTACAAAAAATAAAAACACTAAAGGTTTTAAATAATGGGTGTTTCCACTGATAAATTATAAACTCATGAGGCCAGGCCTGGGTCTGATTTTGCTTACTATTGTAGCCTTAGCATGCCTGTCATAGTAAGGGATTTGACAAATATTTGCTGTTGTGAGGAAGTCTACATATGCTTTGTGAGAGCAAGAATGGTAGAGATAGTCAACATTCTCAGGTACAAACAAATGTTAAATGTCCGAGTTTCTCTCCATGTGCTATGGATTCCACCTTCTCCCAATCTTCAGGGATACCATTCCATCAATTATTCCATCTTTCTTACCCTCAATGTTCAAATATGCTCAAAGTCTCTCTCACCTAAAACCAACACCTACACACATATTCACCCAACACTCTTCTCAACTCTAGTTCTCTCTTTACTAACCAAGCAAAGGACACTAATCCCTTTTGTTTTTTAGACGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGCAGCTGGCATTACAGACGCCCGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCAGCCAACACCAATCCTTTAATGTGTTACAAATATCCCCCAGTTTGTGCTTATCTTTCCATGTTGTACATGGTGTCTTTCAATAAACACATACTCTTAACATAATCAATCTTAAAATCTCTTTCTTTACATTTATACTTTGTGTATTAAATTTTTCCTTACCCCCAAATGTAGAGATATTCCTACATAGCCTTCAAATATTTTATAATTTTGCTATTCAAATTTAAATATTGAATCCACTAGGAATTGAATTTTATGTATAGTGAGTGAGGTGGGGGTCCAATTTAAAGTTTTTCCCCATATGAATAGTCAATTGTTCTAACATCATTTACTGAATCAGTCCATCCTTTCCCTGCTGATATTACTATAAATTAAATTTCTATATGTGTGGATTTGTTTTGGGACTCTTGAATTTGTTCCACTGGTCAAGTGGATTATTTCTGAGACAATACTCCACTGTTTGAATTACTATAGCTTATTCATTTTTTATTATTTAAATTTTTTCCCAGCTTTACTGAGGTATAACTGGCAAATACAAATTGTATATATTTAAGGTGTACAATG
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Task1_train_2528
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A variant on Chromosome 1 in gene SYT2 (synaptotagmin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Congenital myasthenic syndrome 7
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AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACAT
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AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTTTGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACAT
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Task1_train_2529
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This alteration in SYT2 (synaptotagmin 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGG
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CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCGGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGG
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Task1_train_2530
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This genomic variant is located on Chromosome 1, within the SYT2 (synaptotagmin 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Congenital myasthenic syndrome 7
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TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGGTCCTTCAAGTCCTAAACGAATGATTTGCAGAATTTTTTGAATTAGTTCATGTTTATCTCCTCAGAAAAGGGGGATCCCTGAAGCACTTGGGAAGGAGGCCCCACCCAGGCACCATTAGACCTCGAGCCTTCCCCTACCAAGAAAGGCTGTTCCATGGTCTCTAGGTGAGTTCCCTCTCTTCAACCTCCCCATACATGTTTGCCTCCCCAAACCCTGCTCCATGCCTAGGAACCCAGGGCTCCAGCACCTGAATCTGCTCGAAGGGGATCTCAAAGCTGAAGGACTCGTTGAAGTATGGGTTCAGGGTCTTCTTCTTCACGGTTGTCTTCTTCTTCTTGAGCCTCTTGCCATTCTGCATCAGGTGGATCTTCACGTACGGGTCTGCGGAGGGAGAATCCCAACCCCAGAGAGGTTCCCCTTAGCCCCCAGCCTTCCTGCCGAATGTACCAAGGCCTGCCCAGAGCATCGGTCAAGAGGGGGTCTTCACTCCGCTGAGACCAGGCCCTCAGAAAGCCCCAAGTCATGCCATCCAGTTCAAAGGTGGCAAAAGGCTTCACCTCCAGGACCAACTGTGACCAGTTGGTTGTGGCTTCCTGAAGCATTGGGTGGAGGGCATTTCTGAGTCTAAGTAAGGCCTTGTGAGAAAGAGTCTGGGGATTCATCTGTGATCCTGTACTGGGGAGTGGGTGGGGAGTGCTGAAGTCAGGACACACATCTGCTGGGTCATAATCCCAATCCGATCCCCCTAATCTTGCAGACAAGAAACTGAGGCCAAAGAACGGAAATGACCTGCCCGAGGTCACACAGCGGGTCAGTGACAGAGCCAGGCTGGCACTGAAACGCGCTGGTTGGAGCCCATGCCCAGGGCTGATTCTCTGGGAAGGCAGCTGAGGCAGCAGGCTTCATCCACTAGAGCCCTGTGCCATGGGCCAGCCCCATTCACTGCCAGGTAAATGTGATATTCAGAGCATCTTCCACTCCCTTGCCTCACCCTCCCCTTTCCAGGGCAGAGCCAGCAGAGCCTACAGCCTCTTCTGGAAACATGTCTCGATTGTGGTGTCATGCTTTGGGCTAAGCCCTGCTCATTTCCCTGGGAGAAGTAAAATCCTAAGTCACAAACTTATCTGGGGATGAAATTTCTCTGATCCTTTTCTCTGTAGCCCACAGTGCATGGCCAGAGAGCGCTGGGAAGGCAGCTCTGATGGGGACAAGGGGCCCTTGGAGAAAAGGAGGGCCTGGGAAGCTAAGGCTCCCCCGCTCCTCGAGGAGACATCTCAGTCCCAGGGCAGCAAAGTGTTCCTCTTCACTGGAGTGTGCAAACTCTGGGACTTGGTGCTGACTGGCTCGCTGGTGCCACCCAATGGCAGCCAGAAGCTCTCCACGTACCTGAAAGGCCGCCCACGTCCATCTTCTTGAGGTTCTTAGCCTCCAGGATGCAGACAGTGAGCTTCCCGGCCGTGGGCACATAGCGCAGGGAGGTGCAGATGTCGCCCAGCTTCTCCGGCTGTCCAGGGGAAGAGCAGGACTTGGGTCATCTCACCCATCCTAGTGCCTCTCTCATGGCTGACCTCTTTCTTGCCAAAATTAGCAAGGCAGTGATGTGTCCCTGCCTCCCTCATCACCAGTCCCCATATATGTGATGGCCGAGAAGGTCTTCCAGCATCTGACCTTGGGTCCCCCTGATGCAGTGCAACAAAGTCCCTGAAAGTGACAGGTTGGGACCTCAGGAGCCGTGGGCTGAGGATGCTGACAGATGAGGGGGGTAGAGGACAGCTGCGGTGGCAGGACTGAGGGAGGGATCCCTGGGTGGATCTGGGATCTGGGAGGTTGGGAGTATGTTTGGGCTCCCACCCCAGGCCCTGGTAAGGTGGGAAGGTGTGCGAGAAGCGGGTGGGTTAGCCACGTGTCCACCACCAAGGGCCCTGGGGGACTGAATGTCTCAGAAGCCTTCTTTCCCTTAACAGTCCCACCCACCAAGATCTCTCCTTGTGGACCATTCCACTTGTAGTATGATTTGTGGTTTTCGGAGCAATTTGCATCCCTTTTGTTACTATCACTGCAACTCTTTGATGTAAACAAGACAAGAATTCTTTGTAACCAATGAGAAACTGAGGTTCCCAGAGGCCATGGTTTGCTCAAAGTCACACAACAATTTAGCACTGTAGGCAGGCTGAGGACCCAGGGCTCCTAATTCCTAAGGCCAACACCACACTGCAGAGTCAAAGCTGCTCAAAGTCAAAGCCACCCAGGGCAAGACTGACGACATCACACAGGTCCTGGTTCAGGTGTGCTGGCCTTCCTCCCAGGCACAGGGGACAAAAGGGAAAAAAGGATGTCTTAAGCTTCTCTACTCAGCCCTCCATCACTGCCTAGAGTGTGCCAGGTAGCAGGGCCCTGGCCAAGACAAATGATTGATGCCCAGAAGGAA
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TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGGTCCTTCAAGTCCTAAACGAATGATTTGCAGAATTTTTTGAATTAGTTCATGTTTATCTCCTCAGAAAAGGGGGATCCCTGAAGCACTTGGGAAGGAGGCCCCACCCAGGCACCATTAGACCTCGAGCCTTCCCCTACCAAGAAAGGCTGTTCCATGGTCTCTAGGTGAGTTCCCTCTCTTCAACCTCCCCATACATGTTTGCCTCCCCAAACCCTGCTCCATGCCTAGGAACCCAGGGCTCCAGCACCTGAATCTGCTCGAAGGGGATCTCAAAGCTGAAGGACTCGTTGAAGTATGGGTTCAGGGTCTTCTTCTTCACGGTTGTCTTCTTCTTCTTGAGCCTCTTGCCATTCTGCATCAGGTGGATCTTCACGTACGGGGCTGCGGAGGGAGAATCCCAACCCCAGAGAGGTTCCCCTTAGCCCCCAGCCTTCCTGCCGAATGTACCAAGGCCTGCCCAGAGCATCGGTCAAGAGGGGGTCTTCACTCCGCTGAGACCAGGCCCTCAGAAAGCCCCAAGTCATGCCATCCAGTTCAAAGGTGGCAAAAGGCTTCACCTCCAGGACCAACTGTGACCAGTTGGTTGTGGCTTCCTGAAGCATTGGGTGGAGGGCATTTCTGAGTCTAAGTAAGGCCTTGTGAGAAAGAGTCTGGGGATTCATCTGTGATCCTGTACTGGGGAGTGGGTGGGGAGTGCTGAAGTCAGGACACACATCTGCTGGGTCATAATCCCAATCCGATCCCCCTAATCTTGCAGACAAGAAACTGAGGCCAAAGAACGGAAATGACCTGCCCGAGGTCACACAGCGGGTCAGTGACAGAGCCAGGCTGGCACTGAAACGCGCTGGTTGGAGCCCATGCCCAGGGCTGATTCTCTGGGAAGGCAGCTGAGGCAGCAGGCTTCATCCACTAGAGCCCTGTGCCATGGGCCAGCCCCATTCACTGCCAGGTAAATGTGATATTCAGAGCATCTTCCACTCCCTTGCCTCACCCTCCCCTTTCCAGGGCAGAGCCAGCAGAGCCTACAGCCTCTTCTGGAAACATGTCTCGATTGTGGTGTCATGCTTTGGGCTAAGCCCTGCTCATTTCCCTGGGAGAAGTAAAATCCTAAGTCACAAACTTATCTGGGGATGAAATTTCTCTGATCCTTTTCTCTGTAGCCCACAGTGCATGGCCAGAGAGCGCTGGGAAGGCAGCTCTGATGGGGACAAGGGGCCCTTGGAGAAAAGGAGGGCCTGGGAAGCTAAGGCTCCCCCGCTCCTCGAGGAGACATCTCAGTCCCAGGGCAGCAAAGTGTTCCTCTTCACTGGAGTGTGCAAACTCTGGGACTTGGTGCTGACTGGCTCGCTGGTGCCACCCAATGGCAGCCAGAAGCTCTCCACGTACCTGAAAGGCCGCCCACGTCCATCTTCTTGAGGTTCTTAGCCTCCAGGATGCAGACAGTGAGCTTCCCGGCCGTGGGCACATAGCGCAGGGAGGTGCAGATGTCGCCCAGCTTCTCCGGCTGTCCAGGGGAAGAGCAGGACTTGGGTCATCTCACCCATCCTAGTGCCTCTCTCATGGCTGACCTCTTTCTTGCCAAAATTAGCAAGGCAGTGATGTGTCCCTGCCTCCCTCATCACCAGTCCCCATATATGTGATGGCCGAGAAGGTCTTCCAGCATCTGACCTTGGGTCCCCCTGATGCAGTGCAACAAAGTCCCTGAAAGTGACAGGTTGGGACCTCAGGAGCCGTGGGCTGAGGATGCTGACAGATGAGGGGGGTAGAGGACAGCTGCGGTGGCAGGACTGAGGGAGGGATCCCTGGGTGGATCTGGGATCTGGGAGGTTGGGAGTATGTTTGGGCTCCCACCCCAGGCCCTGGTAAGGTGGGAAGGTGTGCGAGAAGCGGGTGGGTTAGCCACGTGTCCACCACCAAGGGCCCTGGGGGACTGAATGTCTCAGAAGCCTTCTTTCCCTTAACAGTCCCACCCACCAAGATCTCTCCTTGTGGACCATTCCACTTGTAGTATGATTTGTGGTTTTCGGAGCAATTTGCATCCCTTTTGTTACTATCACTGCAACTCTTTGATGTAAACAAGACAAGAATTCTTTGTAACCAATGAGAAACTGAGGTTCCCAGAGGCCATGGTTTGCTCAAAGTCACACAACAATTTAGCACTGTAGGCAGGCTGAGGACCCAGGGCTCCTAATTCCTAAGGCCAACACCACACTGCAGAGTCAAAGCTGCTCAAAGTCAAAGCCACCCAGGGCAAGACTGACGACATCACACAGGTCCTGGTTCAGGTGTGCTGGCCTTCCTCCCAGGCACAGGGGACAAAAGGGAAAAAAGGATGTCTTAAGCTTCTCTACTCAGCCCTCCATCACTGCCTAGAGTGTGCCAGGTAGCAGGGCCCTGGCCAAGACAAATGATTGATGCCCAGAAGGAA
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Task1_train_2531
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A mutation found in KDM5B (lysine demethylase 5B) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Intellectual disability, autosomal recessive 65
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GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATTTTTGAGCGAGCCTTCAGCTCATGTAGAAGTGAGCTAGTGATTTATGAGCAATTCTATGTATAATGAGCTAGATTACAGTTCATTATTAGTCAGTGCTAAACTGAATGTATTCCAGAAAATCGCAGTCAATGCCGCCCCGGATGTTACTACCATCTTTATAGTATGATCATGTATTTCCTCATTTATTAACTAACACTATAAACTGACTTCAGAAGATATTTTTATTGTCAGACACTAAGTTAAACAATCTTATTTAAGGTACAAATTTAAGTTTAAACTTGGGGGTAAAGGGGATTAAAGAAAGGAAGGGAAGAAGGAAAACAGGAAAGAAAAAGGAGAAAGGGAGATGTCACTCACAGCATTGGTGGCTTTTTTAGATCGACTCTTGGGCTTTTCCTTCTCATTTTCTACAATATAATCTTTCCTCTCAATAGGTTCTTGCTTGATGCTACTCTTCATTTCTTTCTCTGTAGGAGGCAATCCAAAATTAGCTCTTTATGATGCTTTTCTCCACTTCCTCATCATCTCCCTCCCAAAGCACATACTGTACACAAACATAATTTCATGTGTGTTTTCACATTTTAGTAGCAATAGCACCCAGTATACTTTATTCAAGGGCTCAAATGCTGATTACTTTATGATAAAATGCAAACTCTTGTGCCATTTAAATTTCAAGATGTAGATTACTTCTGGAGATGTCCCTCAGGTTTGTATGCTTTCAAAATAGGAATTAGTTTTCTCAAGACCAAGACATAACATATACCGATGAAATCAAATTCCTGTTGGCCATGACTACAAGAGACCAACAGTTCACCAACTATATCTCCTCCACATAACACATTATCTCTCCATGATCTAAGATGACTTCCTGGTCATCCTCCTGGTCTCCAAATTCCTGGTTCTGAAGACTGAGAAGTTTGGCGAAAACACTGGCTATCAATTACTGAACTATCATGTGGTAGGCATTGTGCTCAATGCTTTCCATAAAGTATTTAATCCTTCACAACAAACCCATTTCAAAGGTAAGAAAACTGATGTTAAAGTAAATCAAGAAACATCTCTAAGGTTACATAACTAGTTAGCGGTTGTGCCAAGATTACTGTATTACTTTATATTGTATCTCTATTACTTTCCTGTGCATTGTGCTGCCTTTCCACTAGTTCACTAATCCCTAGGTTGAACAAATTTTAGTAACTTCTTAATTTGTATGTGCCTCCTATATAGGATATAAGATTTCTCTTAAAAGAATCTCAAATCCACCTCTCAGTGACTTACATCAAGTGATACCCAGGCAAGCAATTAACCACAATTCAGATTTAGGAAGCATGTCTGTTTGCCTTGCCTGAAATAAATCTATCAGACATTCGGTCAAAGGCACCTATGTTTTTCACAAATTACTTAAGTAACTGCATTGAATCAAATTTCAAAGTAGCAACTTGCTACAGCTGAGAAACTCATCCACACTCCTAATATGCATACATATAGTTTCTGTTTCTCTCTCCCACTAGTCAGTTAATTATGAGAACAAGGACACTGTTGATATATTAAGATTTTCTCAAAGCCCAACCCAGTGACTACTATGTACTGGCTGCTCTAAATTTTACTTTTTAATTTTTTTCTATTGAATTTTCAGCTTATGTTTACTTATGAATAGTTATTTTTACTTTATTTACTTTTTCTTTCCTATTCATTGACAAATTTTCTTACCATTTTCACATTTTGGAGTTGGACAACCCATTCGACGTCTCAGATTATGAGTTCTGGCTTCCGTTGTCTCCTCGGGTTCTATTTTAATATTCATGGCCTTAAAAAAATTGTCATATACATGAATATTTCCTTTAAGAAGAAATAATCTTTAAAAATCCAACTGGAATCTCAAGGTGACTATATCCTACCAATTGCCTCTATTAACAGGGCATTCAAAACATACTTCTCTCTCTTCCTAAGGAAGAGAGCTCACCTTTGAAACTACTATTAAAGCATGAATGAGAAATTTAAAAATAGGGAAAAGTTGGCCAGGCACAGTGGTTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAACAGTGAAACCCTGTCTCTACTAAAATTACAAAAAGTAGCCGGGCATGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAACAAACAAACAAACAAAAAAACAAATAGGGAAAAGTCAAAGGATCAAGAACAAATTGTGGCTGGGCGAGGTGCCTCACACCTGTAATCCCAGCATTTTGGGGGGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGATCAGCCTGCCATAATGGCAAAACCCCATCTCTAACTAAAAATACAAAAATTAGCCAGGTGTTGTGCACACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCATGAGATTTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCACACCACTATACTCCAGCCTGGGCAACAAGAGCCAATCTCTGTCTCAAAACAAAGAGAAGTGTTTCTATTCAAATTCGGAAGAACAATTCTTATTTTCCTCCTAGAAGGTTCTTGGTTCTTATCTATTTGCTTTATGCTTTATTCAATCATCGCAATAAGCCAAATCCTAAGTAGTTATATAAATGTCATAACTCCATTAGCCTCTAAGAGTTTGCTGACCTATTCCAAGGTCTGTCAGTATTTACAGAAAATTTTGCTTCCACAATAATTTTCCATAAATTATTTTAATAAACTATTATTATAAACTACACACTTCTAACATCACTAAACTATTAAGGGCTCCTTCCTCATTGAGGGTATAGAAGCCAATCTCAGTTTCTATTATTTCTTAAAGTGCTGATACTTATTGGTAAAGCAAATAAAACCATTTTTTGTGGTAATACTGAAGTATCTGTGGAACTGTGCTTTCTCACTTTGCCTGTGTTTATTCATACATTTTAATGATGTCCACTGCTAAAAGAGTTTATTCCATGGGCAATATCATTACTATCAGGTGTCATCAAGGCAGATGTAGGCATCCACAGCACTGGGGCATTTCTTATATACACATGTATAAGATCAAGAATATGCTCAAGAAAGAACTGATTCATAGATTAATTTACTTTAAACATGCTTATGGGCTTCAAATAACCATATTTTCCTATTCTGGGCAGTCTCCTTCATTCAGAAAAAGTGAATCACTAAATTTTTTTCCTATCTCCAACTTACCAAAGTGAAAAACTATTCTCTTATTTATCTATTTCTTCAGAAAACAAAATGGCTGATTTTTTTCATTTTTGATAATTATTGAAAACCAGTTACTGATTTAGTATGATTAATGCAATATGAGGCTTCCCAGCTCTAAACAGTTCCCTATATATTATCTCTGAGTCCTAAAACTCACATATCCATCAGGCTAGGCAGGAATCCAAAACCTTCATACCTCTGGTATGGGAACGAGATCACTAGAAAAATACTCTTCTTCCTTTCCCAGGGAAAGCTTCTCAGAGCAGAAAAATCTTAAAGCAAATAATCCTTCTCTAGCCTGGACAACACAGTGAGACCTTGTCTTTATTAAAAATTTTTTTTTAATTAGCTAGGCATGCATGGCATGCATCTGTAGTTCCAGCTACTTGGGAGGCTGAG
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GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATTTTTGAGCGAGCCTTCAGCTCATGTAGAAGTGAGCTAGTGATTTATGAGCAATTCTATGTATAATGAGCTAGATTACAGTTCATTATTAGTCAGTGCTAAACTGAATGTATTCCAGAAAATCGCAGTCAATGCCGCCCCGGATGTTACTACCATCTTTATAGTATGATCATGTATTTCCTCATTTATTAACTAACACTATAAACTGACTTCAGAAGATATTTTTATTGTCAGACACTAAGTTAAACAATCTTATTTAAGGTACAAATTTAAGTTTAAACTTGGGGGTAAAGGGGATTAAAGAAAGGAAGGGAAGAAGGAAAACAGGAAAGAAAAAGGAGAAAGGGAGATGTCACTCACAGCATTGGTGGCTTTTTTAGATCGACTCTTGGGCTTTTCCTTCTCATTTTCTACAATATAATCTTTCCTCTCAATAGGTTCTTGCTTGATGCTACTCTTCATTTCTTTCTCTGTAGGAGGCAATCCAAAATTAGCTCTTTATGATGCTTTTCTCCACTTCCTCATCATCTCCCTCCCAAAGCACATACTGTACACAAACATAATTTCATGTGTGTTTTCACATTTTAGTAGCAATAGCACCCAGTATACTTTATTCAAGGGCTCAAATGCTGATTACTTTATGATAAAATGCAAACTCTTGTGCCATTTAAATTTCAAGATGTAGATTACTTCTGGAGATGTCCCTCAGGTTTGTATGCTTTCAAAATAGGAATTAGTTTTCTCAAGACCAAGACATAACATATACCGATGAAATCAAATTCCTGTTGGCCATGACTACAAGAGACCAACAGTTCACCAACTATATCTCCTCCACATAACACATTATCTCTCCATGATCTAAGATGACTTCCTGGTCATCCTCCTGGTCTCCAAATTCCTGGTTCTGAAGACTGAGAAGTTTGGCGAAAACACTGGCTATCAATTACTGAACTATCATGTGGTAGGCATTGTGCTCAATGCTTTCCATAAAGTATTTAATCCTTCACAACAAACCCATTTCAAAGGTAAGAAAACTGATGTTAAAGTAAATCAAGAAACATCTCTAAGGTTACATAACTAGTTAGCGGTTGTGCCAAGATTACTGTATTACTTTATATTGTATCTCTATTACTTTCCTGTGCATTGTGCTGCCTTTCCACTAGTTCACTAATCCCTAGGTTGAACAAATTTTAGTAACTTCTTAATTTGTATGTGCCTCCTATATAGGATATAAGATTTCTCTTAAAAGAATCTCAAATCCACCTCTCAGTGACTTACATCAAGTGATACCCAGGCAAGCAATTAACCACAATTCAGATTTAGGAAGCATGTCTGTTTGCCTTGCCTGAAATAAATCTATCAGACATTCGGTCAAAGGCACCTATGTTTTTCACAAATTACTTAAGTAACTGCATTGAATCAAATTTCAAAGTAGCAACTTGCTACAGCTGAGAAACTCATCCACACTCCTAATATGCATACATATAGTTTCTGTTTCTCTCTCCCACTAGTCAGTTAATTATGAGAACAAGGACACTGTTGATATATTAAGATTTTCTCAAAGCCCAACCCAGTGACTACTATGTACTGGCTGCTCTAAATTTTACTTTTTAATTTTTTTCTATTGAATTTTCAGCTTATGTTTACTTATGAATAGTTATTTTTACTTTATTTACTTTTTCTTTCCTATTCATTGACAAATTTTCTTACCATTTTCACATTTTGGAGTTGAACAACCCATTCGACGTCTCAGATTATGAGTTCTGGCTTCCGTTGTCTCCTCGGGTTCTATTTTAATATTCATGGCCTTAAAAAAATTGTCATATACATGAATATTTCCTTTAAGAAGAAATAATCTTTAAAAATCCAACTGGAATCTCAAGGTGACTATATCCTACCAATTGCCTCTATTAACAGGGCATTCAAAACATACTTCTCTCTCTTCCTAAGGAAGAGAGCTCACCTTTGAAACTACTATTAAAGCATGAATGAGAAATTTAAAAATAGGGAAAAGTTGGCCAGGCACAGTGGTTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAACAGTGAAACCCTGTCTCTACTAAAATTACAAAAAGTAGCCGGGCATGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAACAAACAAACAAACAAAAAAACAAATAGGGAAAAGTCAAAGGATCAAGAACAAATTGTGGCTGGGCGAGGTGCCTCACACCTGTAATCCCAGCATTTTGGGGGGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGATCAGCCTGCCATAATGGCAAAACCCCATCTCTAACTAAAAATACAAAAATTAGCCAGGTGTTGTGCACACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCATGAGATTTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCACACCACTATACTCCAGCCTGGGCAACAAGAGCCAATCTCTGTCTCAAAACAAAGAGAAGTGTTTCTATTCAAATTCGGAAGAACAATTCTTATTTTCCTCCTAGAAGGTTCTTGGTTCTTATCTATTTGCTTTATGCTTTATTCAATCATCGCAATAAGCCAAATCCTAAGTAGTTATATAAATGTCATAACTCCATTAGCCTCTAAGAGTTTGCTGACCTATTCCAAGGTCTGTCAGTATTTACAGAAAATTTTGCTTCCACAATAATTTTCCATAAATTATTTTAATAAACTATTATTATAAACTACACACTTCTAACATCACTAAACTATTAAGGGCTCCTTCCTCATTGAGGGTATAGAAGCCAATCTCAGTTTCTATTATTTCTTAAAGTGCTGATACTTATTGGTAAAGCAAATAAAACCATTTTTTGTGGTAATACTGAAGTATCTGTGGAACTGTGCTTTCTCACTTTGCCTGTGTTTATTCATACATTTTAATGATGTCCACTGCTAAAAGAGTTTATTCCATGGGCAATATCATTACTATCAGGTGTCATCAAGGCAGATGTAGGCATCCACAGCACTGGGGCATTTCTTATATACACATGTATAAGATCAAGAATATGCTCAAGAAAGAACTGATTCATAGATTAATTTACTTTAAACATGCTTATGGGCTTCAAATAACCATATTTTCCTATTCTGGGCAGTCTCCTTCATTCAGAAAAAGTGAATCACTAAATTTTTTTCCTATCTCCAACTTACCAAAGTGAAAAACTATTCTCTTATTTATCTATTTCTTCAGAAAACAAAATGGCTGATTTTTTTCATTTTTGATAATTATTGAAAACCAGTTACTGATTTAGTATGATTAATGCAATATGAGGCTTCCCAGCTCTAAACAGTTCCCTATATATTATCTCTGAGTCCTAAAACTCACATATCCATCAGGCTAGGCAGGAATCCAAAACCTTCATACCTCTGGTATGGGAACGAGATCACTAGAAAAATACTCTTCTTCCTTTCCCAGGGAAAGCTTCTCAGAGCAGAAAAATCTTAAAGCAAATAATCCTTCTCTAGCCTGGACAACACAGTGAGACCTTGTCTTTATTAAAAATTTTTTTTTAATTAGCTAGGCATGCATGGCATGCATCTGTAGTTCCAGCTACTTGGGAGGCTGAG
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Task1_train_2532
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An alteration has been detected in ADIPOR1 (adiponectin receptor 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACCACGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCACCCGCCTCAGACTCCCAAAGCGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCCTGAGAATCTCCTAATTATTGAACACTACTATAGCATACTGATTTCTCTAACAAGATGGTCTGTTCTTTTCAAATGGCTCTATGAAAAAAAAAAATTTAAAAATGTAAAAAGATAATCCATGCAACAATTACATAAAAAAGTAAAGCTGTATTGGGGAATGGATGCTAGGAATTCAATTAGGTCCATTTATTGGCCTGCATGTGCCAGCCTGTCAATGCCTATGATTCAAATTTGTGCCTCAGGAGAATCTGAAATTATCACAGGTCTTACTTAATGTTTTGGAGTTGTGTGCAAATAATCAAGACCATACATGTGAAATCTTTGAATGCCAAGTGTCTTCTGTACTTTCTTTTATTAACATCATAGTCTTTGCATCAAGATACATAGCAATGATAGCAGGTTTCTTTTTAAAGCTTAGTATTAAATATTAAATATCTTTCCCCATTTAAATTTTACATTACTCTGCCAAGAAAAAAAAAAAATTAAAACTCAAGTTACTTGAAGCCTGGACACACTTCCATGATTAGCCGGGCTAGGTAAAAGTTGGTGGCTTTATTCTTCCTGCTCTATAAGCAGATCCAGGCCCTAGAAAGATGGGACCAGGGTATATAATTGTTTTTGAAAAGTGTGCTACAAAAATGGATGGCCTGTTATAAGCCAGGATACAAAGTTAAGGATGGGGGTAAGGGAGGGACATTTTCTTCCAGAAGAAAAGACAGAATTTCTGAAGAGTCCCAGTCCATAATTTTCCCAAAATGGTTGGAGGAGAGGGTAAAATCTCAACATGAGTTTCAAAGTACTGTCTCTGTGAGGGGCCGGTAGATGCCTTGCTGAGGAGGGGATGGCTAAGTTTGACCATGCCCCATCCCCAGCTAGGAGAATGGAAATGGAAAGTTTATTGCCCAGTGGGTGTGAAAGTGGGCTGAAGCTTGGTTGGTACTGAATTCTCTAAGAGGTTTCTTCTAGAAACAGACAACTCAGACTCTTCCTCTCACTTCAGCAAAGAAGTTATTTTTAAAAGCACTTGGGAAGTTCCTCCTCCACCCCGCAGGTGGGAAGGCTCAGAGAAGGGTGTCATCAGTACAGCCGCCTTCTAGGCCGTAACGGAATTCCTGAAGGTTGGAGACTCCATAGAAGTGGACAAAGGCTGCTGCCACCACCAGGACATGGAAAATCTGATGAGACTGGAACTGTAGGAATAAAAAGAAAAGAGCCTTTAGGATAATGCAAGGAGGAATAAGAAACAAGTAGGAGAAAGCATTTGCTTCTTCTAGTTTATCCTTAATTAAACAAATTTGTTAATAACATTAAAGTGGTATATTTAGAAAGTTTTAAAAACACAGTCCTTGTCAGAGATACACCAAAATGTTAATATTGATGATTTACCTTCAATGCACATATATGTACCTCCAAACACTATATGATCCCAGTCTCATACCACCTTTTCCTCAGCCCTTTAACTTTGGGCTGTTCACTCACCATCACAGGACCTGCTGGAAGATTCATTTCTTACCCATATGTCAAATTTTCCAGGAAAGAAGCGCTCAGGAATTCGAGCAGCATAAAGGCCAGCTCCAGTGATGTACATCACAGCCATGAGGAAGAACCAGCCCATCTGGCCCACTGTGGTGGCCTTGACAAAGCCCTCAGCGATAGTAAAGTGCATGGTGGGCACGACGCCACTCAAGCCAAGTCCCAGGAACACGCCTGAACAGAACAGACATAAGACTGTCAAACAAGGAAACAGCCACCGCATGGAAGGCACTGCTGTCTTACTCTGGAATTTCAATGTTTATGATAATTAGCTATTTTTGGATGAATAGTACATGTTTAGGAAACTTAGCTACAAGATGGATAACACTCAACAGATATTTCTTCTATGTCCTGAATGGGAAGAAGCTGTGTAAGTGCTTACTACCTTTTAAGCACCAAGAACAAAGATCTCATATTCTTCATTATCTGTTAAGGAATTTAGGTAAAAATGGTATGTCAAGACTCTCTGATGGCTAACTTGGGTACAGAACTTAGATGTCAAGGCTTCAGTTGCCTCCCAAGTCAGAGAAGCATAGGATAGGCTTCCTGTTAAGATCATAAAAGTCTTACATAACCAGAACTCTGACCTCCTGAGTAGACAGATATACCCAGATTAGCAGTTATCCTGTAGCTGCTGGGACACACAAGTAAGGCAAGAGCAAGGGAAGAATGGGTATGTGTCTCATCATTACACTACACATAACTGAAGGGCAGGGACCACCTCTCCATCTTTGTAAATACCTTTGTTTAAGCACAGTGCATGGCACGTGGCTGGTGCTTGATAAATATTTAATTATTATTATTTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGATAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCTGCCCCCGACCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGAATTACAGGCACCTGCCACAACGCCGACTAATTTTTATATTTTAAATAAAAACAGGGTTTTACCATGTCGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCCGCCTGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGACAATATTTAATTATTTTAACTGAAGGTTAAAACATAGCAGATATTAATTGTAAAGGGACTAAAGACTAGTGGTAATTGGTGGTGTTGCTGCAAGTAATAAAAGCTTAAAATAAGAGTCCAGATGAGATGAGACAACACAAAGATGTTTATGCTTGTAGCTATTACTTTGTTACCTGTTTATGCTCAAGGTATTTTCATTCACCAAACCAGGTATTCCATTCCCTTAGTAAAATGCCTCTGAGTGTTTTAATTTTAATCCCTTGGTCTGAGCTTGGGACTCGGGTCACTAAAATTACTGTGCTTGCTACATTTTTAAACTGTCACAAACCAAGTATAAGAGTAGCTACATCTGTGCTTGCAGTTAATTGACCAGCTGGGTAATGATCTGTCCTATTGGCATTCTACTGAAATAGTATGACACTGGGGGTTGAGAACTGAGCTTTGAAATTGATGCTGTTTTGAAAGTTCTGAAACACAAATCAGGGTTTGGGTGGGGTTCTCAAGCTGCAAACCTTAAGGCTCAAATAGGTTTGAGCCTATCAGGCCTAAGGTCTAAATACCTCTGAGGTGTACGTACATCTTCCGACCTACCTGCTCTTGTCTGCCGGTGCTTAGGAGTGGCAAACCGGTCCCACTGCGCCACAATGATGGCAGAAATGCCCAGGACACAGACGATGGAGAGGTAGATGAGCCGTGGCTGTGGGGAGCAGTAGAAGGAATAATAGAGCCAGGGGACAAAGCTCCCCATAATTAGAAGAGCAATCCCTGAATAGTCCAGTCTAAAAAGAACCACAAAAATGAAACAAATCAGTGGGGGAAATGAATTTGTATGGCTCATTTAACTAGCTCTTTCTGTTCTCCACCTGCTCCCAGATTTAACCATTCCCTCAATCTATCCTGTATTGTAGACTCCCATACAATCTATCCTGTATTCTGGATTAAAATTCCACAAGGTCACTTCTATTTTACGATGGAA
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CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACCACGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCACCCGCCTCAGACTCCCAAAGCGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCCTGAGAATCTCCTAATTATTGAACACTACTATAGCATACTGATTTCTCTAACAAGATGGTCTGTTCTTTTCAAATGGCTCTATGAAAAAAAAAAATTTAAAAATGTAAAAAGATAATCCATGCAACAATTACATAAAAAAGTAAAGCTGTATTGGGGAATGGATGCTAGGAATTCAATTAGGTCCATTTATTGGCCTGCATGTGCCAGCCTGTCAATGCCTATGATTCAAATTTGTGCCTCAGGAGAATCTGAAATTATCACAGGTCTTACTTAATGTTTTGGAGTTGTGTGCAAATAATCAAGACCATACATGTGAAATCTTTGAATGCCAAGTGTCTTCTGTACTTTCTTTTATTAACATCATAGTCTTTGCATCAAGATACATAGCAATGATAGCAGGTTTCTTTTTAAAGCTTAGTATTAAATATTAAATATCTTTCCCCATTTAAATTTTACATTACTCTGCCAAGAAAAAAAAAAAATTAAAACTCAAGTTACTTGAAGCCTGGACACACTTCCATGATTAGCCGGGCTAGGTAAAAGTTGGTGGCTTTATTCTTCCTGCTCTATAAGCAGATCCAGGCCCTAGAAAGATGGGACCAGGGTATATAATTGTTTTTGAAAAGTGTGCTACAAAAATGGATGGCCTGTTATAAGCCAGGATACAAAGTTAAGGATGGGGGTAAGGGAGGGACATTTTCTTCCAGAAGAAAAGACAGAATTTCTGAAGAGTCCCAGTCCATAATTTTCCCAAAATGGTTGGAGGAGAGGGTAAAATCTCAACATGAGTTTCAAAGTACTGTCTCTGTGAGGGGCCGGTAGATGCCTTGCTGAGGAGGGGATGGCTAAGTTTGACCATGCCCCATCCCCAGCTAGGAGAATGGAAATGGAAAGTTTATTGCCCAGTGGGTGTGAAAGTGGGCTGAAGCTTGGTTGGTACTGAATTCTCTAAGAGGTTTCTTCTAGAAACAGACAACTCAGACTCTTCCTCTCACTTCAGCAAAGAAGTTATTTTTAAAAGCACTTGGGAAGTTCCTCCTCCACCCCGCAGGTGGGAAGGCTCAGAGAAGGGTGTCATCAGTACAGCCGCCTTCTAGGCCGTAACGGAATTCCTGAAGGTTGGAGACTCCATAGAAGTGGACAAAGGCTGCTGCCACCACCAGGACATGGAAAATCTGATGAGACTGGAACTGTAGGAATAAAAAGAAAAGAGCCTTTAGGATAATGCAAGGAGGAATAAGAAACAAGTAGGAGAAAGCATTTGCTTCTTCTAGTTTATCCTTAATTAAACAAATTTGTTAATAACATTAAAGTGGTATATTTAGAAAGTTTTAAAAACACAGTCCTTGTCAGAGATACACCAAAATGTTAATATTGATGATTTACCTTCAATGCACATATATGTACCTCCAAACACTATATGATCCCAGTCTCATACCACCTTTTCCTCAGCCCTTTAACTTTGGGCTGTTCACTCACCATCACAGGACCTGCTGGAAGATTCATTTCTTACCCATATGTCAAATTTTCCAGGAAAGAAGCGCTCAGGAATTCGAGCAGCATAAAGGCCAGCTCCAGTGATGCACATCACAGCCATGAGGAAGAACCAGCCCATCTGGCCCACTGTGGTGGCCTTGACAAAGCCCTCAGCGATAGTAAAGTGCATGGTGGGCACGACGCCACTCAAGCCAAGTCCCAGGAACACGCCTGAACAGAACAGACATAAGACTGTCAAACAAGGAAACAGCCACCGCATGGAAGGCACTGCTGTCTTACTCTGGAATTTCAATGTTTATGATAATTAGCTATTTTTGGATGAATAGTACATGTTTAGGAAACTTAGCTACAAGATGGATAACACTCAACAGATATTTCTTCTATGTCCTGAATGGGAAGAAGCTGTGTAAGTGCTTACTACCTTTTAAGCACCAAGAACAAAGATCTCATATTCTTCATTATCTGTTAAGGAATTTAGGTAAAAATGGTATGTCAAGACTCTCTGATGGCTAACTTGGGTACAGAACTTAGATGTCAAGGCTTCAGTTGCCTCCCAAGTCAGAGAAGCATAGGATAGGCTTCCTGTTAAGATCATAAAAGTCTTACATAACCAGAACTCTGACCTCCTGAGTAGACAGATATACCCAGATTAGCAGTTATCCTGTAGCTGCTGGGACACACAAGTAAGGCAAGAGCAAGGGAAGAATGGGTATGTGTCTCATCATTACACTACACATAACTGAAGGGCAGGGACCACCTCTCCATCTTTGTAAATACCTTTGTTTAAGCACAGTGCATGGCACGTGGCTGGTGCTTGATAAATATTTAATTATTATTATTTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGATAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCTGCCCCCGACCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGAATTACAGGCACCTGCCACAACGCCGACTAATTTTTATATTTTAAATAAAAACAGGGTTTTACCATGTCGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCCGCCTGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGACAATATTTAATTATTTTAACTGAAGGTTAAAACATAGCAGATATTAATTGTAAAGGGACTAAAGACTAGTGGTAATTGGTGGTGTTGCTGCAAGTAATAAAAGCTTAAAATAAGAGTCCAGATGAGATGAGACAACACAAAGATGTTTATGCTTGTAGCTATTACTTTGTTACCTGTTTATGCTCAAGGTATTTTCATTCACCAAACCAGGTATTCCATTCCCTTAGTAAAATGCCTCTGAGTGTTTTAATTTTAATCCCTTGGTCTGAGCTTGGGACTCGGGTCACTAAAATTACTGTGCTTGCTACATTTTTAAACTGTCACAAACCAAGTATAAGAGTAGCTACATCTGTGCTTGCAGTTAATTGACCAGCTGGGTAATGATCTGTCCTATTGGCATTCTACTGAAATAGTATGACACTGGGGGTTGAGAACTGAGCTTTGAAATTGATGCTGTTTTGAAAGTTCTGAAACACAAATCAGGGTTTGGGTGGGGTTCTCAAGCTGCAAACCTTAAGGCTCAAATAGGTTTGAGCCTATCAGGCCTAAGGTCTAAATACCTCTGAGGTGTACGTACATCTTCCGACCTACCTGCTCTTGTCTGCCGGTGCTTAGGAGTGGCAAACCGGTCCCACTGCGCCACAATGATGGCAGAAATGCCCAGGACACAGACGATGGAGAGGTAGATGAGCCGTGGCTGTGGGGAGCAGTAGAAGGAATAATAGAGCCAGGGGACAAAGCTCCCCATAATTAGAAGAGCAATCCCTGAATAGTCCAGTCTAAAAAGAACCACAAAAATGAAACAAATCAGTGGGGGAAATGAATTTGTATGGCTCATTTAACTAGCTCTTTCTGTTCTCCACCTGCTCCCAGATTTAACCATTCCCTCAATCTATCCTGTATTGTAGACTCCCATACAATCTATCCTGTATTCTGGATTAAAATTCCACAAGGTCACTTCTATTTTACGATGGAA
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Task1_train_2533
|
A variant affecting Chromosome 1, within the gene SNRPE (small nuclear ribonucleoprotein polypeptide E), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hypotrichosis 11
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TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTTTGGGAAACTCCAGGGGGATGAAAGTGGAATGGATGTTCTTTAGTCTTTAGAAGACCCGTAACGAATGCCCAGCTGGGCACTTGTTGTTTGCGTAAGCACCAGACCTCGCGTTTAGTAAACAAAGGTGAGACGGGAATAGCGTCGTCCGGTTGTTTCAGGAAGCAGAGTCTATGCTGCTTTTGTATTTTTTCCTTAGCCACTGTGGTGCAGAACCTCATCTTCAGATACTTACAAAATGTACGTAAGTTGCTTGTTTCGTAACTACTTTTTAAATAAGAGGTGAACTGATTTAGTTTTTTGTGTTAACCTGAGCGATCGCTGTGTTCTAGAATTTAAAAATAGATGTAACTGGAGATTGGAGGGTAATTGAGGGGAAGGAGTACTTAGAAAGCACTAATGTGATGAAGTGGTGTGTATCCATGCCACTTCCCAACATGCAAAGAATTGTATCCATTACTTTGCAAGATCAAAAATACTTTTTAATTCCAAAAAGTATTATTAGCAGACTTGACCATGGTATTTGGGCATCAGTAGTTTTGTTAGTAGTGATTATGGCTAGAACATTGGAACCTCTCCCCTTTAGGATGAAACATTGGAAGAAAAACCCAGCCAACTTAAACCATGTCAAGAGGTGGTGTGTTTAATACCTGTGGGAAAACTTAAAGACGAAAAAAGGAAGAGAGAAGGGGTAGCTTCAGAGGAGTTTAGTGGCAGCTGCTTTCCTTTGAGGGAAATTTTAGCAACTTAAATTTTATAGTGTGATAACACAACTGAAAAACATTAATTTCAGGTGATAATAATTCTTAACCACCTGAATTGAGGGCTCCTGTCCTAGTTGTTAGGTGTGTGACATGAGAAGGCTTTGTTTTGGAACTGGATTTTGCTGCAGGAGATAAGCCCTTGGTCATTAGAAATTACTGCTTTGTGCTATGCTGTCAAAAACTTTCACTCTTAATAGATTGAGACCAGAAGCAGTAAGAAATATTGAGTCCCAAAATCACAGGAAAATTATTAGCTTATACAGTTCCAATATAGAACTTATTAAATGAAAATTCTTTTTGAGGTTATTATTATTGGTGAATAATTCTTAGATATGGGCTAATTAGTTAAAACTTTTGACTTACATTCATTACAATTTTTTTAGGAGCCATATTTCTCTTGTCGTTTGACCAAAATGGTTAGGTTTTGTATACTTCAATTTTTTGGGGGGCGGGGGGCGGGGAGATCTTGCTTAATGTTGCGCAGGCTTATATTGAACACCTGGCCACAAAGCGAATTATTCCGCTTTGGCATCCCAAAGTATGGGAACGGTGTGAATCGAGGCACCTGGCCTGTTTTTCTTTTCTTTTTTTTGAGACGGAGTCTCACTGTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCGTCCCGAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAACGAGGATGGTCTCTATCTCTTGACCTTGTGATCCACCTCCCTCGGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTATTTTTCTTTTTTTAACGTTTCCACTTTTATGATTATTTCAGAGATCGCGGATTCAGGTGTGGCTCTATGAGCAAGTGAATATGCGGATAGAAGGCTGTATCATTGTGAGTATCCAGGCGATTTCATCTCATAGCAGTTCGGTCGTAGAAAAAGACTTAACAGAAAGTGTCTAGCCAGAACAGTGTATAAAAAGTCAAAGATCCAACCTAAGGAAAGTTTTTCAGGTGCTGCTGTTTAGCCTTTTTTCATTGTTGATAGATAAGGATTGGGTAGTTTTTAATAGGGAAAATAACTTTTAATTCATTTTCTTTCCTCTGTCTATGTTGAGAAGAAAATTTGTATTTGATTTTTGAGAAAGGGCTTTGTTCTGTTGCTTAGGCTGGAGTGCAGTGGCACAATCATGGCTCGTTGCAGCCTCAACCTCCCGGGCTCAAGTAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCAGAAGCGTGCACCATCACAGCCTGCTAAATTTTTATTTTTTATAGAGATGAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACCTCAGCCTCTCAAAGTCTTGGGATTACAGGCATGAGCCACAACGCCTGGCTGAAAATTAACTTTTAAAAATTATTCGAAAAAAAAATATTGAGCGACAATGTTAGTATGGAGAGGGGGGACAAAATAAATGAAATTAGGGAGGGTGGGGTTATTTGTTGTGGGTTAGGTGATACCTGAATAGAGAGCTCAGTGGGGTTAGTTAAATAAGGCTTCTGGGATAGCAGGCTACCCTAAATTTTTTTTTTTAAGTTGGGGTCCGGCTCTGTCACCCAGGTGCTCTCAGCTCACTGCAATCTTGAACTCCTTGGCTCAAGTGATTTTTCCACCTCAGCCTCTAGTAGCTGGGAACTATAGGCATACACCACCAGGTCCAGCTAATTTTTAAATATTTTGCTGGGCAAGGTGGCTCACGCCTGTAATCCTAGCACTTAGGGAGGCCGAGCATGATGAATCACTTTAGCTCCAGAGTTCGAGACCAGCCTGGGCAACATGATGAAACCCTGTTTCTACCAAAAATACAAAAAGTAGCCAGGCATGGTGGTGCGCCCTGTAGTTCCAGCTACTTGGGGGGAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTCCAGCTGCAGTAAGCCGAGGTTGCACCACTGCACTCTAGCCTGGAAGACAAAGTGAGATCCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTGGGTGGAAGGTGGGGTGGGGCTTGAGAAGAGTGAATCTTTGAAGTTAGTTGGAGTTTTTATCTGCATAGGTATACTCATTTAAAATGGTTTGAATGTGATTTTCTTTGAAGATAACAGTTTGTTTATTTTTCTAGGGTTTTGATGAGTATATGAACCTTGTATTAGATGATGCAGAAGAGATTCATTCTAAAACAAAGTCAAGAAAACAACTGGGTAAGGATAGAAGTGGTCTTACAGAATTCTAGAAATATTTTATTCACTTGCAGAATTCAGTGACCTGCAACTCAGTTCATGTTTGAATTTATTTTGCATTTGAGAAGTTATTATTCAGAGTAGTAGTACACTTTTGAAATCATCCTCTACTACTCACTCCTCACCACACTCCATTTTGGCTTCTCCACCCAGAGAGCTCTCACCAAGGGAACCAAAGACTAGTGGTATTAAATCTAATGATCAGTACTAATCCTCATTTTATTAAACTCTCAACAGCATTTGGCACTGTTGGCTGCTCCCTCCTTAAAGCGCTTTGTTCCCGTGTCTGAGTGGCAGGAAAAACCCAAGTAGATTTTTCTGTTTCCTCAGTTGACAATAATTAACACAGAAGACTTCTGTGACCAGATGTATGGGCATATTTCCCCACACACCAAGCAAGCAATCAGTTCGGCAGTGGACATCAGCTCAGAGTCGTCAAGTTCAGTTCAGTTCTAACACTATCTACCTGAGATAGCGTCAGTTCCCAGAGGTTGAGGGCTCAATCCCCAAGATTGCCTTCCATGCCCCTCAGTCCTCCACCAGATGCTAATTGTCAGCTCCAGATTGTTTTACCTGTGCTTCTTACTGACTGGCTATAAACTG
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TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTTTGGGAAACTCCAGGGGGATGAAAGTGGAATGGATGTTCTTTAGTCTTTAGAAGACCCGTAACGAATGCCCAGCTGGGCACTTGTTGTTTGCGTAAGCACCAGACCTCGCGTTTAGTAAACAAAGGTGAGACGGGAATAGCGTCGTCCGGTTGTTTCAGGAAGCAGAGTCTATGCTGCTTTTGTATTTTTTCCTTAGCCACTGTGGTGCAGAACCTCATCTTCAGATACTTACAAAATGTACGTAAGTTGCTTGTTTCGTAACTACTTTTTAAATAAGAGGTGAACTGATTTAGTTTTTTGTGTTAACCTGAGCGATCGCTGTGTTCTAGAATTTAAAAATAGATGTAACTGGAGATTGGAGGGTAATTGAGGGGAAGGAGTACTTAGAAAGCACTAATGTGATGAAGTGGTGTGTATCCATGCCACTTCCCAACATGCAAAGAATTGTATCCATTACTTTGCAAGATCAAAAATACTTTTTAATTCCAAAAAGTATTATTAGCAGACTTGACCATGGTATTTGGGCATCAGTAGTTTTGTTAGTAGTGATTATGGCTAGAACATTGGAACCTCTCCCCTTTAGGATGAAACATTGGAAGAAAAACCCAGCCAACTTAAACCATGTCAAGAGGTGGTGTGTTTAATACCTGTGGGAAAACTTAAAGACGAAAAAAGGAAGAGAGAAGGGGTAGCTTCAGAGGAGTTTAGTGGCAGCTGCTTTCCTTTGAGGGAAATTTTAGCAACTTAAATTTTATAGTGTGATAACACAACTGAAAAACATTAATTTCAGGTGATAATAATTCTTAACCACCTGAATTGAGGGCTCCTGTCCTAGTTGTTAGGTGTGTGACATGAGAAGGCTTTGTTTTGGAACTGGATTTTGCTGCAGGAGATAAGCCCTTGGTCATTAGAAATTACTGCTTTGTGCTATGCTGTCAAAAACTTTCACTCTTAATAGATTGAGACCAGAAGCAGTAAGAAATATTGAGTCCCAAAATCACAGGAAAATTATTAGCTTATACAGTTCCAATATAGAACTTATTAAATGAAAATTCTTTTTGAGGTTATTATTATTGGTGAATAATTCTTAGATATGGGCTAATTAGTTAAAACTTTTGACTTACATTCATTACAATTTTTTTAGGAGCCATATTTCTCTTGTCGTTTGACCAAAATGGTTAGGTTTTGTATACTTCAATTTTTTGGGGGGCGGGGGGCGGGGAGATCTTGCTTAATGTTGCGCAGGCTTATATTGAACACCTGGCCACAAAGCGAATTATTCCGCTTTGGCATCCCAAAGTATGGGAACGGTGTGAATCGAGGCACCTGGCCTGTTTTTCTTTTCTTTTTTTTGAGACGGAGTCTCACTGTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCGTCCCGAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAACGAGGATGGTCTCTATCTCTTGACCTTGTGATCCACCTCCCTCGGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTATTTTTCTTTTTTTAACGTTTCCACTTTTATGATTATTTCAGAGATCGCGGATTCAGGTGTGGCTCTATGAGCAAGTGAATATGCGGATAGAAAGCTGTATCATTGTGAGTATCCAGGCGATTTCATCTCATAGCAGTTCGGTCGTAGAAAAAGACTTAACAGAAAGTGTCTAGCCAGAACAGTGTATAAAAAGTCAAAGATCCAACCTAAGGAAAGTTTTTCAGGTGCTGCTGTTTAGCCTTTTTTCATTGTTGATAGATAAGGATTGGGTAGTTTTTAATAGGGAAAATAACTTTTAATTCATTTTCTTTCCTCTGTCTATGTTGAGAAGAAAATTTGTATTTGATTTTTGAGAAAGGGCTTTGTTCTGTTGCTTAGGCTGGAGTGCAGTGGCACAATCATGGCTCGTTGCAGCCTCAACCTCCCGGGCTCAAGTAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCAGAAGCGTGCACCATCACAGCCTGCTAAATTTTTATTTTTTATAGAGATGAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACCTCAGCCTCTCAAAGTCTTGGGATTACAGGCATGAGCCACAACGCCTGGCTGAAAATTAACTTTTAAAAATTATTCGAAAAAAAAATATTGAGCGACAATGTTAGTATGGAGAGGGGGGACAAAATAAATGAAATTAGGGAGGGTGGGGTTATTTGTTGTGGGTTAGGTGATACCTGAATAGAGAGCTCAGTGGGGTTAGTTAAATAAGGCTTCTGGGATAGCAGGCTACCCTAAATTTTTTTTTTTAAGTTGGGGTCCGGCTCTGTCACCCAGGTGCTCTCAGCTCACTGCAATCTTGAACTCCTTGGCTCAAGTGATTTTTCCACCTCAGCCTCTAGTAGCTGGGAACTATAGGCATACACCACCAGGTCCAGCTAATTTTTAAATATTTTGCTGGGCAAGGTGGCTCACGCCTGTAATCCTAGCACTTAGGGAGGCCGAGCATGATGAATCACTTTAGCTCCAGAGTTCGAGACCAGCCTGGGCAACATGATGAAACCCTGTTTCTACCAAAAATACAAAAAGTAGCCAGGCATGGTGGTGCGCCCTGTAGTTCCAGCTACTTGGGGGGAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTCCAGCTGCAGTAAGCCGAGGTTGCACCACTGCACTCTAGCCTGGAAGACAAAGTGAGATCCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTGGGTGGAAGGTGGGGTGGGGCTTGAGAAGAGTGAATCTTTGAAGTTAGTTGGAGTTTTTATCTGCATAGGTATACTCATTTAAAATGGTTTGAATGTGATTTTCTTTGAAGATAACAGTTTGTTTATTTTTCTAGGGTTTTGATGAGTATATGAACCTTGTATTAGATGATGCAGAAGAGATTCATTCTAAAACAAAGTCAAGAAAACAACTGGGTAAGGATAGAAGTGGTCTTACAGAATTCTAGAAATATTTTATTCACTTGCAGAATTCAGTGACCTGCAACTCAGTTCATGTTTGAATTTATTTTGCATTTGAGAAGTTATTATTCAGAGTAGTAGTACACTTTTGAAATCATCCTCTACTACTCACTCCTCACCACACTCCATTTTGGCTTCTCCACCCAGAGAGCTCTCACCAAGGGAACCAAAGACTAGTGGTATTAAATCTAATGATCAGTACTAATCCTCATTTTATTAAACTCTCAACAGCATTTGGCACTGTTGGCTGCTCCCTCCTTAAAGCGCTTTGTTCCCGTGTCTGAGTGGCAGGAAAAACCCAAGTAGATTTTTCTGTTTCCTCAGTTGACAATAATTAACACAGAAGACTTCTGTGACCAGATGTATGGGCATATTTCCCCACACACCAAGCAAGCAATCAGTTCGGCAGTGGACATCAGCTCAGAGTCGTCAAGTTCAGTTCAGTTCTAACACTATCTACCTGAGATAGCGTCAGTTCCCAGAGGTTGAGGGCTCAATCCCCAAGATTGCCTTCCATGCCCCTCAGTCCTCCACCAGATGCTAATTGTCAGCTCCAGATTGTTTTACCTGTGCTTCTTACTGACTGGCTATAAACTG
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Task1_train_2534
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A variant affecting Chromosome 1, within the gene REN (renin), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Renal tubular dysgenesis
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GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCCACTGGCCTCATGTTCTTACCCTTGTGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGGATCTCACTCTGTTGCCTTAGCTGGAGTGCAGTGGCACAATCACTGCTCACTGAAGCCTTAACTCCTGGGCTCATGCGATCCTCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCTTTTGCCTCCAGCTCTCTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGG
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GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCCACTGGCCTCATGTTCTTACCCTTGTGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGGATCTCACTCTGTTGCCTTAGCTGGAGTGCAGTGGCACAATCACTGCTCACTGAAGCCTTAACTCCTGGGCTCATGCGATCCTCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCTTTTGCCTCCAGCTCTCTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACTTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGG
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Task1_train_2535
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This variant lies on Chromosome 1 and affects the gene REN (renin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Renal tubular dysgenesis
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CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGGCTCAGGGGACCTTGGGTCTTGGGGTCTTGCCTGGCTTCACTCTTGGCTCTCGGTGTGAGACTTGGCCCAGGCGAGGTCCTATAGCCTCTCGGGGTTTCCATTTTCCTGCAGGAACTGGTAGGAGGCTTAGCATCTCCCCATGGCATCCCAGAAAGTGGGAGTCTCAGTAAGACAAGAGGGCAAAATCAAAACATTGAGAATGAAGCAGGAAGCAAACTTGACTCTTGAGGATCCTCTGGGGCAGGAAGCCATCAGGTTGTGCTGGGCCAGGTCACAGAAACCCCCACCTGAGTCACACACCCCTTCCCACCCACCTGTGACACCTGGCTTGAGGCCTGGGCTGAGTTCCAAACCTAACCCTGCCCCTGAATGGCCCCTGGATGCCTTCCTGTCTTCTGTGCTCAGGCTTTCCAGCTGGAAAATGGGAATTTTCTAGGGTGCTCACGTGCTACTCAGCGCCTTCGTCAAACACAGCTTGGAAAGGGTGAGTCTTGCAGCAAAGAAAGCCCTAGGTCCATGAGGGAAAGGAGACAGGGAGGGAGCGAGGGGCTGAGCCAAGCACTCACGTCCATGTAGTTGGTGAGGATCACGGAGGAGGTGGTGTTGCCAAGTGTCAGCCTCTTCATGGGTTGGCTCCACTCGGGACCAAGCCTGGCCATGTCCACACCTCGTTCCTTCAGGCTTTCTCGGATTGAGGGCATTCTCTTGAGGAAGATCCTGGCCCAGGGTGGAGGAAGCAAAAATAGAAAAGTGCTGTACCTCCACCACAGTGGTGGAGTCCCTGAGGCCAAACCCCTGCTTTTAGTACAACCACCTTTAACGTTAGCCCAGCCACCTGGAAATCACCTCTGTCGCTGAGGGCCTCTGGAGCATTTATAAGAGTTACTTCTTGTCAAGAGTCAATTTAGAGGAGTCAGCTGCCCGGGGATTAAATAACCCTGAAGTGACTTCCTTCTGTTGCCTAATTTTGATTAGACAAGGCTATTTGTTTATTGGTCCGTTCATTCATTTATTCCGTAATCACCTGCTGAACAACTACTTTGTGCCTCACTGTGCTGGACACTGGAGCTAGAAAGATAATGATCATGACTGCCTTTAAGGAACTCCACCTGGCGGGAGGACAGACAGGAAACAGGCACAGACATTCCCTCTGAAGAGATTAATGCCAGGGAGTGCCCCTGTCAAAACTAGGGGCTGGCGGGGAGACAGTGCCATGGGAGGCCGCTAGGTGGCAGCAGATGCCCACAGC
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CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGTAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGGCTCAGGGGACCTTGGGTCTTGGGGTCTTGCCTGGCTTCACTCTTGGCTCTCGGTGTGAGACTTGGCCCAGGCGAGGTCCTATAGCCTCTCGGGGTTTCCATTTTCCTGCAGGAACTGGTAGGAGGCTTAGCATCTCCCCATGGCATCCCAGAAAGTGGGAGTCTCAGTAAGACAAGAGGGCAAAATCAAAACATTGAGAATGAAGCAGGAAGCAAACTTGACTCTTGAGGATCCTCTGGGGCAGGAAGCCATCAGGTTGTGCTGGGCCAGGTCACAGAAACCCCCACCTGAGTCACACACCCCTTCCCACCCACCTGTGACACCTGGCTTGAGGCCTGGGCTGAGTTCCAAACCTAACCCTGCCCCTGAATGGCCCCTGGATGCCTTCCTGTCTTCTGTGCTCAGGCTTTCCAGCTGGAAAATGGGAATTTTCTAGGGTGCTCACGTGCTACTCAGCGCCTTCGTCAAACACAGCTTGGAAAGGGTGAGTCTTGCAGCAAAGAAAGCCCTAGGTCCATGAGGGAAAGGAGACAGGGAGGGAGCGAGGGGCTGAGCCAAGCACTCACGTCCATGTAGTTGGTGAGGATCACGGAGGAGGTGGTGTTGCCAAGTGTCAGCCTCTTCATGGGTTGGCTCCACTCGGGACCAAGCCTGGCCATGTCCACACCTCGTTCCTTCAGGCTTTCTCGGATTGAGGGCATTCTCTTGAGGAAGATCCTGGCCCAGGGTGGAGGAAGCAAAAATAGAAAAGTGCTGTACCTCCACCACAGTGGTGGAGTCCCTGAGGCCAAACCCCTGCTTTTAGTACAACCACCTTTAACGTTAGCCCAGCCACCTGGAAATCACCTCTGTCGCTGAGGGCCTCTGGAGCATTTATAAGAGTTACTTCTTGTCAAGAGTCAATTTAGAGGAGTCAGCTGCCCGGGGATTAAATAACCCTGAAGTGACTTCCTTCTGTTGCCTAATTTTGATTAGACAAGGCTATTTGTTTATTGGTCCGTTCATTCATTTATTCCGTAATCACCTGCTGAACAACTACTTTGTGCCTCACTGTGCTGGACACTGGAGCTAGAAAGATAATGATCATGACTGCCTTTAAGGAACTCCACCTGGCGGGAGGACAGACAGGAAACAGGCACAGACATTCCCTCTGAAGAGATTAATGCCAGGGAGTGCCCCTGTCAAAACTAGGGGCTGGCGGGGAGACAGTGCCATGGGAGGCCGCTAGGTGGCAGCAGATGCCCACAGC
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Task1_train_2536
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This alteration in LOC107548112, REN (REN promoter and enhancer region| renin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Familial juvenile hyperuricemic nephropathy type 2
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CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGAGCAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTGA
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CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGCGCAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTGA
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Task1_train_2537
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A variant affecting Chromosome 1, within the gene KISS1 (KiSS-1 metastasis suppressor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hypogonadotropic hypogonadism 13 with or without anosmia
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TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGTAAATGGGGTCACAGGAAGTTTTGTAAAAATTCAGAGCAGAATTCAGGAAACCATCAGCTTCTTCCTGCCCATCATCAGATAAAGGATTGCTTCCAGGGGCTAGGAGAACAGCATGCTTAATAGAATAGGTCTTGAGTTGATGATTGCCCTCCTAGAGGTACAGAGACACACCCCAGAGTGTTTAGGAATAAAAAGCCCTTCTAAATATCAACATCATGCTGTCATGATGCGTGATGATGTGAGCTCACAGCAGTATCGATAATTTGGGAGATCCTGGAGAGCTGTTTCAAGGGTAGAGATGGGGGAGCATGTTGTCATGTTCCCATGACAGCCTATCTCATTGCCATAGCAACACAGCTCTGCCTCCATCCTGTGGAGTCCTGGTTTCCGTAGTGGGTGGAACACTGTGTCACTTCACTGTATGGAGACGGGTCCTACGATCCCTCTGGGAAAGAACATTTTCATCCTAGACTGTGCAGTATAGGGGTACCCCGAGGCTAAGTAGTGCTGTGTTTTCTTGTCGGCAGGAGGGTGGATTTCCTGGGGTTTTCCCACTGACGAGCTCTACTTCTTCCTACCACAATTTCTACTCCCCAGCTATTGCACCCCAAAGTAAGTCCCCATGAGGCAGGCTACGCTTTCTTGATCTGCACCTGGCTGACTCAGATGGAAACCCTGCCATGGCAGAGAGGCATGACAGGTCAGTGGGGAAGACAGGCTCTGGTATCAGGAGACCTATTAGGCTTGGAGCTCATTGCCGATGTGTCTGGAGCGAGTGGTTTATCCTTCTTGACTTTAGGGTTCTACCTGTAAAGATGGGGCTAATGCATTCCCATCACCCTGGGTAGTTATGAGGATGAAGGAAAGCAATATGTGTAAAGACCCAACCTGGCTCCCTGGAGGGAAGGGGGAAGAGTGAGTGGCTGGTCCACTGTTGATGCCCTTTGCATCCCAGACCCCAGCAGGGGTCTGACTGTGGGGCTCAGATGATATTTAAGCCTCAATGGACAGGGCAGTGATTGGCATCATCTTCCAGATCAAGCTGCCCAACTTCCGTGGGAAAGGGAAAGGTACTTAATCAGTCCATCTCCCCCATGCCTCCCTTATCCCCCAGTACTACTCAAAGTGTGGGCAGTGAGCCATGACCCTCTGCAAAATGTCACCCATCCTCAGGGAGATAAGTCTGGGCATTCTGAGGACATCTCCAGAAATTTTTATAGAAATTTGATATCGCTGAAACATTCCAGCAGCATACAGTTTGGTCTTCTCTTTTGTTGTTTTTAAATTTTTCAGATTTTCAGTGATCCATTTTAATTTTTTTTTTTAAGTACCAATCTGCAATGGATTGGAGAACTAACCGCCTGTTCCTTCATTACACCTAGTGTGAGAAGCACTGACCTTAATGACACCAGAGGCCTCTTGAAATCAGCTAACCATCCATTGAGGATGGAAGGGGAACAGCCTCATCAGAGCTGCTTGCAAAAATGAGCCGCAGACCACACGTCAGTGAGTTACGCAACATTTCTTTTATTGCCTCGGGTTGGAAGCTCCAGCGCCCCCTCCCTTAGCCCTACGTCCCCGCCCCCCGCCCCCGCCCCGCATGCTCTGACTCCTTTGGGGTCTGAAGTTCACTGCCCCGCACCTGCGCCCTCAGCCCCGCCCAGCGCTTCTGCCGTGGTTCCCTGGTGCCGCCTCCCGCTTGCCGAAGCGCAGGCCGAAGGAGTTCCAGTTGTAGTTCGGCAGGTCCTTCTCCCGCTGCACCAGCACCGCGCCCTGGGGTGCGGGGATCTGGCGGCTGTGGGGGGCGGACAGGCCCGGCTGCTGGGGGCTCCCGGAGCTCTCGGGGGGCGGGGACAGCGAGGTCCCCCGACGGCTCAGCCTGGCAGTAGCAGCTGGCTTCCTCTCGGTGCACGGCAGGCTCTGCTCCCCGGGGGCCAGGAGGCCCAGGGATTCTAGCTGCTGGCCTAGGACAGAGGGCACAGAAAGATGAGGCCGGGGTCCGGGAAAGATGGCTTTGCAACACCTCCTGTCATCCCATCCTATCCTTCTTTTCCTTCCTTGACCTTTTGGAAGCTCGGAGCTCAGTGCCATGCGAACCAGCACGATCACCTTAGCTGGGATGATTAGGCCCTAGGCGCCTCCCTCTTCCAACATAGCTTTGATTTAGAATGTTTGCCAGAATTATCTTAAATAACTCTCATATTACGTTACTTCCTTTTAGGAAACAAACAGGGTAGGGCATGGAAATAAAGAAAACCAAAGTATTTGCTGAACACCCAGCTCTGGGCCCCTTCCTGGCTGTGAGCAGCCTGGGCAGTGGGGCCATGTTAATTCATCTCTGTATCTCTCATAGTGCTTGAAACAGTGGCTTGCTCATAGTGGGGCCTCAATAAATGCCTGTTAAATACATAAAAGCTAAAAACGTGTAGTAACAGAAATCGAGAAAGTGGAGCTAAGACATTGTGGCCCCACACACCTGTGTTCCAACACTCGTCTTTGATAAGAATTGTGACCACCCACCCCCCCAACCCCGCCCAATAAGCTACATAAGGACTCAATGAGAAACAAAAATTATCTAGGTCACCTTAACTGGCTCTCTTCCTCCATCCTGGGTATAACTTCTCTCCTTCATTCTGAGGATTAACAAGGCTAATTTGGAAGGCACTTCACATGCAAGGCTCATTAAGTTCACTGTACTTTTTGGCTGTAAAATAGGGCAACTAGCTCTGTGTAGACAATAACCCCAGCCCATTGCGGCAAGAGATTAGTGGAAATGAGGCCTGGTGTGTGAATGGGTGTGAATAGATGTGCTGGGGCGGCAGTTGGCTTTGAGCCCTGCTCCTCCGTGCCCTGGCACAGTCTGGAAAAGAGGAGTGTGGACCTGGTCCAGAGTTAATGGCAGTCGCCTGCGAGGTCCCTCAGCCCTTGCCCAGGGCCTGGCTGAGGTAGGAGGAGGATGGCTTCCTCCCCAGTTGCGCACGCTAGACCAGTAGTAAATCACTGTTCAGGCTGCTGTTGGTGACCTCACCTAAAGCCTTTTGCCAAAAAGAGCCAACAACCCTATATCCCTGGGCAGTGTGGGGTTATTTTCTGGGGTAGCCTCCCTCACCCAGAAAAACGCCTGATCCCAGGACAGAAGACACGCTTGGCAAACGACACCCGGGGCCGTGTCCTCTGTGCTCTGGAAGGTCTTATGGGCATATACGATGACATCAAATGTGTAGAGGGCATGCCCCAAGTTTTATAGCTGGGGGAACTCAGGTCCAGAGAAGCTAAGTCATGGGTTCTAGTTTGCCCAGAAAGCTGACACCAGGAAGTGTGCCAAGCCACAGCTCCTGACTTGGGGACTAGTATTGTTCTAGCTTGTGCCACTCACCAGACACACTCCTGGGGAGCTCTGACACCTGCTGGGTTTCCACAGTGTTTGAGCGACTCTGGGGAAATCTCTTTACCTCTGTGGGTCTCAAATTTTCCAGCTTATCAGTTCCCCAATGAACTGGAGACAGTTCATTGTCTCCAAAAGGTTAATAGGTATCAAATATCTGCCCTTTGGTTTAGGTTTTTTTTTTTTTCCAAATTCTCCACAAAGAATCTGAGGTCACCGATAAAGCAAGGTTGCATATGAAGTTTCTTCTCAACATCGGCACAGAGAGGTTGCTGACGTAGAGCAGAGAACACAGTGTGAGGAAACCATGAAAGAGCTCAAGGGTTAATAAGCCCTGGAACCTAGGTGGGCGGACTGAGGCCATCACAGAGGCAAGGCATCCGTCACTTGC
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TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGTAAATGGGGTCACAGGAAGTTTTGTAAAAATTCAGAGCAGAATTCAGGAAACCATCAGCTTCTTCCTGCCCATCATCAGATAAAGGATTGCTTCCAGGGGCTAGGAGAACAGCATGCTTAATAGAATAGGTCTTGAGTTGATGATTGCCCTCCTAGAGGTACAGAGACACACCCCAGAGTGTTTAGGAATAAAAAGCCCTTCTAAATATCAACATCATGCTGTCATGATGCGTGATGATGTGAGCTCACAGCAGTATCGATAATTTGGGAGATCCTGGAGAGCTGTTTCAAGGGTAGAGATGGGGGAGCATGTTGTCATGTTCCCATGACAGCCTATCTCATTGCCATAGCAACACAGCTCTGCCTCCATCCTGTGGAGTCCTGGTTTCCGTAGTGGGTGGAACACTGTGTCACTTCACTGTATGGAGACGGGTCCTACGATCCCTCTGGGAAAGAACATTTTCATCCTAGACTGTGCAGTATAGGGGTACCCCGAGGCTAAGTAGTGCTGTGTTTTCTTGTCGGCAGGAGGGTGGATTTCCTGGGGTTTTCCCACTGACGAGCTCTACTTCTTCCTACCACAATTTCTACTCCCCAGCTATTGCACCCCAAAGTAAGTCCCCATGAGGCAGGCTACGCTTTCTTGATCTGCACCTGGCTGACTCAGATGGAAACCCTGCCATGGCAGAGAGGCATGACAGGTCAGTGGGGAAGACAGGCTCTGGTATCAGGAGACCTATTAGGCTTGGAGCTCATTGCCGATGTGTCTGGAGCGAGTGGTTTATCCTTCTTGACTTTAGGGTTCTACCTGTAAAGATGGGGCTAATGCATTCCCATCACCCTGGGTAGTTATGAGGATGAAGGAAAGCAATATGTGTAAAGACCCAACCTGGCTCCCTGGAGGGAAGGGGGAAGAGTGAGTGGCTGGTCCACTGTTGATGCCCTTTGCATCCCAGACCCCAGCAGGGGTCTGACTGTGGGGCTCAGATGATATTTAAGCCTCAATGGACAGGGCAGTGATTGGCATCATCTTCCAGATCAAGCTGCCCAACTTCCGTGGGAAAGGGAAAGGTACTTAATCAGTCCATCTCCCCCATGCCTCCCTTATCCCCCAGTACTACTCAAAGTGTGGGCAGTGAGCCATGACCCTCTGCAAAATGTCACCCATCCTCAGGGAGATAAGTCTGGGCATTCTGAGGACATCTCCAGAAATTTTTATAGAAATTTGATATCGCTGAAACATTCCAGCAGCATACAGTTTGGTCTTCTCTTTTGTTGTTTTTAAATTTTTCAGATTTTCAGTGATCCATTTTAATTTTTTTTTTTAAGTACCAATCTGCAATGGATTGGAGAACTAACCGCCTGTTCCTTCATTACACCTAGTGTGAGAAGCACTGACCTTAATGACACCAGAGGCCTCTTGAAATCAGCTAACCATCCATTGAGGATGGAAGGGGAACAGCCTCATCAGAGCTGCTTGCAAAAATGAGCCGCAGACCACACGTCAGTGAGTTACGCAACATTTCTTTTATTGCCTCGGGTTGGAAGCTCCAGCGCCCCCTCCCTTAGCCCTACGTCCCCGCCCCCCGCCCCCGCCCCGCATGCTCTGACTCCTTTGGGGTCTGAAGTTCACTGCCCCGCACCTGCGCCCTCAGCCCCGCCCAGCGCTTCTGCCGTGGTTCCCTGGTGCCGCCTCCCGCTTGCCGAAGCGCAGGCCGAAGGAGTTCCACTTGTAGTTCGGCAGGTCCTTCTCCCGCTGCACCAGCACCGCGCCCTGGGGTGCGGGGATCTGGCGGCTGTGGGGGGCGGACAGGCCCGGCTGCTGGGGGCTCCCGGAGCTCTCGGGGGGCGGGGACAGCGAGGTCCCCCGACGGCTCAGCCTGGCAGTAGCAGCTGGCTTCCTCTCGGTGCACGGCAGGCTCTGCTCCCCGGGGGCCAGGAGGCCCAGGGATTCTAGCTGCTGGCCTAGGACAGAGGGCACAGAAAGATGAGGCCGGGGTCCGGGAAAGATGGCTTTGCAACACCTCCTGTCATCCCATCCTATCCTTCTTTTCCTTCCTTGACCTTTTGGAAGCTCGGAGCTCAGTGCCATGCGAACCAGCACGATCACCTTAGCTGGGATGATTAGGCCCTAGGCGCCTCCCTCTTCCAACATAGCTTTGATTTAGAATGTTTGCCAGAATTATCTTAAATAACTCTCATATTACGTTACTTCCTTTTAGGAAACAAACAGGGTAGGGCATGGAAATAAAGAAAACCAAAGTATTTGCTGAACACCCAGCTCTGGGCCCCTTCCTGGCTGTGAGCAGCCTGGGCAGTGGGGCCATGTTAATTCATCTCTGTATCTCTCATAGTGCTTGAAACAGTGGCTTGCTCATAGTGGGGCCTCAATAAATGCCTGTTAAATACATAAAAGCTAAAAACGTGTAGTAACAGAAATCGAGAAAGTGGAGCTAAGACATTGTGGCCCCACACACCTGTGTTCCAACACTCGTCTTTGATAAGAATTGTGACCACCCACCCCCCCAACCCCGCCCAATAAGCTACATAAGGACTCAATGAGAAACAAAAATTATCTAGGTCACCTTAACTGGCTCTCTTCCTCCATCCTGGGTATAACTTCTCTCCTTCATTCTGAGGATTAACAAGGCTAATTTGGAAGGCACTTCACATGCAAGGCTCATTAAGTTCACTGTACTTTTTGGCTGTAAAATAGGGCAACTAGCTCTGTGTAGACAATAACCCCAGCCCATTGCGGCAAGAGATTAGTGGAAATGAGGCCTGGTGTGTGAATGGGTGTGAATAGATGTGCTGGGGCGGCAGTTGGCTTTGAGCCCTGCTCCTCCGTGCCCTGGCACAGTCTGGAAAAGAGGAGTGTGGACCTGGTCCAGAGTTAATGGCAGTCGCCTGCGAGGTCCCTCAGCCCTTGCCCAGGGCCTGGCTGAGGTAGGAGGAGGATGGCTTCCTCCCCAGTTGCGCACGCTAGACCAGTAGTAAATCACTGTTCAGGCTGCTGTTGGTGACCTCACCTAAAGCCTTTTGCCAAAAAGAGCCAACAACCCTATATCCCTGGGCAGTGTGGGGTTATTTTCTGGGGTAGCCTCCCTCACCCAGAAAAACGCCTGATCCCAGGACAGAAGACACGCTTGGCAAACGACACCCGGGGCCGTGTCCTCTGTGCTCTGGAAGGTCTTATGGGCATATACGATGACATCAAATGTGTAGAGGGCATGCCCCAAGTTTTATAGCTGGGGGAACTCAGGTCCAGAGAAGCTAAGTCATGGGTTCTAGTTTGCCCAGAAAGCTGACACCAGGAAGTGTGCCAAGCCACAGCTCCTGACTTGGGGACTAGTATTGTTCTAGCTTGTGCCACTCACCAGACACACTCCTGGGGAGCTCTGACACCTGCTGGGTTTCCACAGTGTTTGAGCGACTCTGGGGAAATCTCTTTACCTCTGTGGGTCTCAAATTTTCCAGCTTATCAGTTCCCCAATGAACTGGAGACAGTTCATTGTCTCCAAAAGGTTAATAGGTATCAAATATCTGCCCTTTGGTTTAGGTTTTTTTTTTTTTCCAAATTCTCCACAAAGAATCTGAGGTCACCGATAAAGCAAGGTTGCATATGAAGTTTCTTCTCAACATCGGCACAGAGAGGTTGCTGACGTAGAGCAGAGAACACAGTGTGAGGAAACCATGAAAGAGCTCAAGGGTTAATAAGCCCTGGAACCTAGGTGGGCGGACTGAGGCCATCACAGAGGCAAGGCATCCGTCACTTGC
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Task1_train_2538
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The gene PPP1R15B (protein phosphatase 1 regulatory subunit 15B) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Microcephaly, short stature, and impaired glucose metabolism 2
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CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAAAATTTGACCAGCTTTTATAGTGTTGCATTCTCAATGTGTTTAATTATGAATATATAAACAGTGGAGGCAGTTCTTAGAACTGGATAGAAATAAAATAATGACCAGGTAGATTGTAAACTGAGGTAGTAACCCTGTAAGCACTTCTGATGAAAAATTCATCCCCACACTTAAATAAGTTCAAAACTAAGAGGTCACCTATTCTACTTATGTTTTCCATTACCTGTGACAGGAAGCACACGGAATGAAAGCAGACCACGGAAGGGTTAACAACCCCTCAACCTAACTTATGTGTACCTTGTAAAGCTAAACAAATAAACCAAACACAAACAGTCAATGCAAAGACTTCAATTCAAAGTAACCTTTGGGCTAAATATATTAAAACTTTCCAGTCATTAATCTATACTTCTATCCTTTCCTGAAAGTAAAGGCCTTGCCATTACTTCTCTCATTATTAAATAGTAGGACACAATAAACCTGGATATTGACTGAAGTTTATATTTTACATTTCAAACGTGAAAATTCAGAACTGCCCATTTCCAATTTTACAGTGGGATCCTGACAGGTTTTAAAAGTGACAGTGCTGAGGCATGATATTCATTAACACTGGTTTTCTGTTGAGAACATATACACCAAAACCAAATTGCTCTGAGATGTCTCCTATTTTCTTTCTAGGAAATTTCTAGGCTTTTAAGTTTAAAAAATAAATGATTATGATGTAATTATTACTTTCCAGAGTGTTTTGCAATAACTTCAACCTGTTAAGAGATACAAAGAACTATATTAAACTGGGAACTACAATAACGTACACAGAACCCTCTTCAAAGAAATTAAATATATTAGATGTTAAAATGTGGTAGAAAGATGCAGCTTTCCCAAAGTAGTAAAGTACTGCACATATGGGTTTTGTGGCAGTCCTTGGAAATATCCTAGGTAGAACTTAATGTAGAAATAAAAAGGCTACCACATATTTTCAATCCAAGTCATTTTTACAAGAAAAAAAAAAGTGACACAAAATAATGCACTTTAAGTTGGTAGCATACACAAGGTTATTTTTTAGCCTAACATAGACAGGCCAAATCATTGAAATAAAAAAAATATAGAAAAACATAAAAGCCCATTAACTTCTGAATTTTGGGAAAGAAACAAGAAAGAGCCCAAAGTTTTCAGATAGGCACACATAATTTAGATTAGAAATGAAAATGGGCTTTAAGCCCTATAAATATTGTTTTCCAAGAAAATAAGTTTTGAAAGTGCAAAATGACAACTCAAAAAGGTCCCCTTTCCACCTCATGCAGGCAAAGGACATTTAAAAGCACATCCAACTAAATCAAAAAAGGGAGGATTAGAAATCACACTAGTTCATCCTTCATTATCAGGGCTGGCTTCAAACCTGAATGTTTCTGAGTGGGATATGTTGCAAAAAAAAAAATTAAACTAGATCCAAGTTACATTTCCTCTAAAAAAAAAAATGTCAAAGGACAGCTGCCAAGATTTGTTTTTAAAAGACACCTCTCAGGTAAGAGGTAGTGTATGCTAGCTAGGACTACAGGCTGCCAACTCAACATTGCTTGAGAACATTAAGTCCTTTGAAGCATGTTCCCTGGAGTCTATTAAACATTCTTTCTCTGTGTTCAAATGTCAAGCAATATCCAATAGCATCTTCTGTTTCTTGAATTCGTTTCTGGAACCTGCATCCATCCCTTGCAAATTCTTCCCATGGTCCTTTGCGATCCTCATCACCACTTATATAATACTCAGTAACTTCTTCAAGGAAGGTTACCTACAAAAACAAAGACTAATTTTAATAACTGTCTAGGATCTTACAATCAGCATTGAGGTCAATAACCCTTTATGCTACCAATTCTTTCAGAATATTCCCAACTAAGAATAACATATTATTATTAGGAATATTTGGTCCCAGCTATATTTGAAGTTAAAAAAAAAGTTCTGTCACGCCTGTAATCCCAGCATTTTGGGAGGCGGAAGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACAGTGAAACCCTGTCTCTAGTAAAAATACGAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACGCAGGAGGCTGAGGTAGGAGAACAGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAATATCGCGCCACTACACTCTAGCCTGTGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGTTCAGATTAGATGGCATTTGGATAAAATAGTGAACAAATGTCACCTAAATATTTCATATAGAGATATATATCTTTCATCTATATATACTTCATTTATCTATATCTGCATAATATACACACACAGTCGTCTGCCCCCCCCAATCCCCCACCAGCCCTTGGCTTTTGGTGTTAATAAAATGAATCCAGATAGGGAATTGAATTTTTCATGCTGTTATTAACCCCTGCTATTTTTTAATCCTTAGGGAAATACAGTTCTGTGATATTTTTCCCTCAAAATGACAAGCAAAATATTTCTGAAAATAACCACTATATCCCTGGAAGTCACTGTTTTTATCACTGCATAAAGGCTTTAACAATATTTTTGCTTACTTCTATTCTTTTTCCTTTTAAAAATTTTTTTCACTTTCCAACTTTTAAATCAACATGTTGTACTATTTTTGTATCATTACTTTGGCAATAACAATACAGAAGAGAAAAAGTTACTTAGTAAACAAAGTATAGCAAAATTAGTATTTTTAAAGCTGTGTTACTCTAAGAAACTTTGTAGTTAAGATTTTAAAAACCTTTGTATTCAATATGCTATCACTATATATGAAATTGTGATTCTAATATACATAATGACATGTAATGAGTGACAATCCCTACTCATTACTAATCACTACTTAATTTCTAATGAAGTTTCTTTCTAAGATATCAAACTCCAAAAGTAAATACTTGCTTTCAAGTATGTTTAATAGTTACATCAGCTAACCCCAATGTGGCCTACTACTTTCGTTCCCTTTACATCAAGCCAAGGGATGCCCCTGAGGACAATTAGCAGGTATGTAACACCTTACTAGTTATTGCATTCTAGTCTTGAATACTACTCATTCATTGTGTCATTAAGATAAATAATAAAAACGTACAGTGTTTACCATATACCAGGCTTTTTTTAAAGAGCTTTACATTTTTATCTCATCTAATCCTCACATTAACCCTATGAGGTATGGACTATTATCATCCCCATTATACCGATAAGAAAACAGAGGTAGAAGGGTTTTTTAGACTCACTGTCCATCATCCTATATACTCCATATATTCCATACACCATTCCCCATATATACCAATGGCAGGTAGTCAAAGGCTGTCAAATAATTATATCATATTCAGACATAATCATTTATAAATTCTGCTTCTAGTTCATAGTCAATAGTATCATCTACTCCACTCATTTCATTTTACTCAACGAGCAAGCTAAAACAAGACATGAGACTGGCCTGAGGTCTCTCAATAAGAGCTAGCATTTAAAGGCAAGGCAATAAATTCTGAGTTTTATTTACTTGTCTCATTTAAATCTTGCAATAACTTGTACAATAGATATTATTATTTTACCCATCAAGTAAGAGTGAATTGAGGCCATGAGAGTCAAGCAACTTCCCAGGTCTGGCTGCCTTCCAAATCTCTGCGCCTTAACCACTGAGGAGTAGAGAACACAGGGCTCCAGCTGCCAAGTGCTCATTCCATTGCCCCACTTTGTTTCTTACCTATTCATTCTAAATAGGTCA
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CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAAAATTTGACCAGCTTTTATAGTGTTGCATTCTCAATGTGTTTAATTATGAATATATAAACAGTGGAGGCAGTTCTTAGAACTGGATAGAAATAAAATAATGACCAGGTAGATTGTAAACTGAGGTAGTAACCCTGTAAGCACTTCTGATGAAAAATTCATCCCCACACTTAAATAAGTTCAAAACTAAGAGGTCACCTATTCTACTTATGTTTTCCATTACCTGTGACAGGAAGCACACGGAATGAAAGCAGACCACGGAAGGGTTAACAACCCCTCAACCTAACTTATGTGTACCTTGTAAAGCTAAACAAATAAACCAAACACAAACAGTCAATGCAAAGACTTCAATTCAAAGTAACCTTTGGGCTAAATATATTAAAACTTTCCAGTCATTAATCTATACTTCTATCCTTTCCTGAAAGTAAAGGCCTTGCCATTACTTCTCTCATTATTAAATAGTAGGACACAATAAACCTGGATATTGACTGAAGTTTATATTTTACATTTCAAACGTGAAAATTCAGAACTGCCCATTTCCAATTTTACAGTGGGATCCTGACAGGTTTTAAAAGTGACAGTGCTGAGGCATGATATTCATTAACACTGGTTTTCTGTTGAGAACATATACACCAAAACCAAATTGCTCTGAGATGTCTCCTATTTTCTTTCTAGGAAATTTCTAGGCTTTTAAGTTTAAAAAATAAATGATTATGATGTAATTATTACTTTCCAGAGTGTTTTGCAATAACTTCAACCTGTTAAGAGATACAAAGAACTATATTAAACTGGGAACTACAATAACGTACACAGAACCCTCTTCAAAGAAATTAAATATATTAGATGTTAAAATGTGGTAGAAAGATGCAGCTTTCCCAAAGTAGTAAAGTACTGCACATATGGGTTTTGTGGCAGTCCTTGGAAATATCCTAGGTAGAACTTAATGTAGAAATAAAAAGGCTACCACATATTTTCAATCCAAGTCATTTTTACAAGAAAAAAAAAAGTGACACAAAATAATGCACTTTAAGTTGGTAGCATACACAAGGTTATTTTTTAGCCTAACATAGACAGGCCAAATCATTGAAATAAAAAAAATATAGAAAAACATAAAAGCCCATTAACTTCTGAATTTTGGGAAAGAAACAAGAAAGAGCCCAAAGTTTTCAGATAGGCACACATAATTTAGATTAGAAATGAAAATGGGCTTTAAGCCCTATAAATATTGTTTTCCAAGAAAATAAGTTTTGAAAGTGCAAAATGACAACTCAAAAAGGTCCCCTTTCCACCTCATGCAGGCAAAGGACATTTAAAAGCACATCCAACTAAATCAAAAAAGGGAGGATTAGAAATCACACTAGTTCATCCTTCATTATCAGGGCTGGCTTCAAACCTGAATGTTTCTGAGTGGGATATGTTGCAAAAAAAAAAATTAAACTAGATCCAAGTTACATTTCCTCTAAAAAAAAAAATGTCAAAGGACAGCTGCCAAGATTTGTTTTTAAAAGACACCTCTCAGGTAAGAGGTAGTGTATGCTAGCTAGGACTACAGGCTGCCAACTCAACATTGCTTGAGAACATTAAGTCCTTTGAAGCATGTTCCCTGGAGTCTATTAAACATTCTTTCTCTGTGTTCAAATGTCAAGCAATATCCAATAGCATCTTCTGTTTCTTGAATTCGTTTCTGGAACCTGCATCCATCCCTTGCAAATTCTTCCCATGGTCCTTTGCAATCCTCATCACCACTTATATAATACTCAGTAACTTCTTCAAGGAAGGTTACCTACAAAAACAAAGACTAATTTTAATAACTGTCTAGGATCTTACAATCAGCATTGAGGTCAATAACCCTTTATGCTACCAATTCTTTCAGAATATTCCCAACTAAGAATAACATATTATTATTAGGAATATTTGGTCCCAGCTATATTTGAAGTTAAAAAAAAAGTTCTGTCACGCCTGTAATCCCAGCATTTTGGGAGGCGGAAGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACAGTGAAACCCTGTCTCTAGTAAAAATACGAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACGCAGGAGGCTGAGGTAGGAGAACAGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAATATCGCGCCACTACACTCTAGCCTGTGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGTTCAGATTAGATGGCATTTGGATAAAATAGTGAACAAATGTCACCTAAATATTTCATATAGAGATATATATCTTTCATCTATATATACTTCATTTATCTATATCTGCATAATATACACACACAGTCGTCTGCCCCCCCCAATCCCCCACCAGCCCTTGGCTTTTGGTGTTAATAAAATGAATCCAGATAGGGAATTGAATTTTTCATGCTGTTATTAACCCCTGCTATTTTTTAATCCTTAGGGAAATACAGTTCTGTGATATTTTTCCCTCAAAATGACAAGCAAAATATTTCTGAAAATAACCACTATATCCCTGGAAGTCACTGTTTTTATCACTGCATAAAGGCTTTAACAATATTTTTGCTTACTTCTATTCTTTTTCCTTTTAAAAATTTTTTTCACTTTCCAACTTTTAAATCAACATGTTGTACTATTTTTGTATCATTACTTTGGCAATAACAATACAGAAGAGAAAAAGTTACTTAGTAAACAAAGTATAGCAAAATTAGTATTTTTAAAGCTGTGTTACTCTAAGAAACTTTGTAGTTAAGATTTTAAAAACCTTTGTATTCAATATGCTATCACTATATATGAAATTGTGATTCTAATATACATAATGACATGTAATGAGTGACAATCCCTACTCATTACTAATCACTACTTAATTTCTAATGAAGTTTCTTTCTAAGATATCAAACTCCAAAAGTAAATACTTGCTTTCAAGTATGTTTAATAGTTACATCAGCTAACCCCAATGTGGCCTACTACTTTCGTTCCCTTTACATCAAGCCAAGGGATGCCCCTGAGGACAATTAGCAGGTATGTAACACCTTACTAGTTATTGCATTCTAGTCTTGAATACTACTCATTCATTGTGTCATTAAGATAAATAATAAAAACGTACAGTGTTTACCATATACCAGGCTTTTTTTAAAGAGCTTTACATTTTTATCTCATCTAATCCTCACATTAACCCTATGAGGTATGGACTATTATCATCCCCATTATACCGATAAGAAAACAGAGGTAGAAGGGTTTTTTAGACTCACTGTCCATCATCCTATATACTCCATATATTCCATACACCATTCCCCATATATACCAATGGCAGGTAGTCAAAGGCTGTCAAATAATTATATCATATTCAGACATAATCATTTATAAATTCTGCTTCTAGTTCATAGTCAATAGTATCATCTACTCCACTCATTTCATTTTACTCAACGAGCAAGCTAAAACAAGACATGAGACTGGCCTGAGGTCTCTCAATAAGAGCTAGCATTTAAAGGCAAGGCAATAAATTCTGAGTTTTATTTACTTGTCTCATTTAAATCTTGCAATAACTTGTACAATAGATATTATTATTTTACCCATCAAGTAAGAGTGAATTGAGGCCATGAGAGTCAAGCAACTTCCCAGGTCTGGCTGCCTTCCAAATCTCTGCGCCTTAACCACTGAGGAGTAGAGAACACAGGGCTCCAGCTGCCAAGTGCTCATTCCATTGCCCCACTTTGTTTCTTACCTATTCATTCTAAATAGGTCA
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Task1_train_2539
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Given a variant located on Chromosome 1 and affecting NFASC (neurofascin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction
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GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCACACGATCTCGGTGAGAGTAAAGGGTACGTTGTGTGTATTTATCATTATGATTATGTTGCCAACCCTGAACACCATGCCCACCCTTCCCTCTGAGGGTGGTTGGGGGCAGAGTGAGTCGGAGAGACTTCCAGCCCACTGCTCAGTGGCAATGGCGATCTGCCATGGATGGTGTCACTCGCTGGACGTGAGAGGGTGTGTGCATGCCCGTGCATGGGGCAGGGGGTGTTAAGGAGATCCACCCTGGCCATCATCCAACTCTCCTTGGTGCCAGCGCTCCCTCAGCGGGTGAATTTCCTCCCACGGCCCATTTGGATCATTCCCAGAGCCTTTTTTTCCTTTCGTTTTGCATTCCCGTTTGTGATGTGTCACGTGAGCCCGTGCTGTCTGTGTACCTATGCATGATGCTGTGCTGCTTTTTAAAACTGGGGAGTGGTCATGGCCAAAATTATTTTCTAAAATCACTTCCTTCCCCCCAAAGCAAAGAGGGCCCACCCGAGTGATTGCAGGCACCAGAGCACGTGTCGTCATGGGTCCCCACCGTGTGTGGCAGGCTGCACTGGTCACTGTTTGGCCTGGGGCTGTATGGATGGTTGAGATAATGATGTTCGAGACCAGAGTATAGAAACTTTCTTAGCAGGCAGTCAGTTGATCTTGTGACCTTGGCTTCAGCACCATACACAAACTAAGGAGTTCTTAGACTTTGAGGGGTAGGGGGTGAGTATCAAGATTGTTGATAATCTGATCTGAAAGGCTCACTTCTCAGAAAAATCCACATTTCCACATATTCACAAAATTGTCTAAACAACTGAACAAGGTGGCCAGCTGAGAACTGCTCTAGCTGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGAAAGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAAAATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGGACATGCCTGTAATCTCAGCTACTCAAGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGCGCCACTGCGCCCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTCTAACCAAAATTCAGTGCCTAAAGAAATGTTCATTAGGCTTTTCCTAAATGGTCTGATCTTGCAAAACAGAGATCCAGAGGGACCAACTCAGTGCCCACTTTACCACCTTCCCTAGCAGTGGAGCCATTGGATGCACACCTCAAACACTGGTGACCTCTAAAAGCATCTGCCACCCAGGCCTCCTGTGAGGATTCTGATTTAGTAGGTCTGAGATAGGCCCTAACATCCCTTTTTTTAAAAAAAGCTCTTCAGGGGATTCTAGTGAGCAGCCCCAGTTTAGAACTATTGTTCTGTGAACTCAAAATAGACAGATCAGCATCTGTGCAGCCAAGCCAGCCAGAAACAGGCTGGACCAAGTTATCCCTGTGAGGATGAGCCCTGGGGCAGGTGGTGAGCACGTGGTGCTGGGACTCAGGGGCTCCTGCCATACTAGAGGGAGACTGCTTGGTTTCTTCTGCCTGTCCCATGCCATCTAACTCCCCTGCCTGTGTCTGTCTTGTCTTCCAGCTGCTCCCTACTGGCTGGACGAACCCAAGAACCTTATTCTGGCTCCTGGCGAGGATGGGAGACTGGTGTGTCGAGCCAATGGAAACCCCAAACCCACTGTCCAGTGGATGGTGAATGGGGAACCTTTGCAATGTAAGTAGCGAGCTGTTGTCCCATCTGACTCTCATCTCTCTGCTGTCAAAGGCTTCAGATCCCCATCACTGTAGCCAGTGCTGGTCACACTAGAAGTTCAGGAAGAGAGAAGCCCACTGGTGGCTGTTTCTCAGCTGCCCATCTCTTCAGACATCTCAAGAGGCAGGAAACCTACCCTCTCTTTGTGTGAGAGAACAGGAGGCCTGGAACTCTGTGGTCATATTCCCATGCTTAAGGGATTTCTGCTCCCTTGGGGTTTTTTAAATCTCTGCTTTCTCCCTCTGAACAACTTCAGAGCCCAGTTGATGGCCTGGGGACTGTGGCTGCATCTCTGGGTGGTTGGGCTTTGAGTGATGGCTGGGGCTGGGAAGGTAGAGGAGAATTCAGTAACCCATTGTTGGTTACTCAAGTTCCGCTCTCTGCTAAGGGCAAAAGAAGAAGCAGGGTTGTACAATAATGTGAAATATTATGGTTAGATATGAGGAAGAACTGCCCCCAGAAGAGCAGATGTACAAGTGCACTTTATCGAGTATGCTTAGACTTTGGGGACATTTAGTCCTGCCCAGGTGGATGGAGTAGATGACTCCAAGACCCCTTATAATCAGTGGCCTTGGTCAAGTTTTCACATCATAGACTCTCTGGTTGCATTACTTTTCAAAATGTCCTGTCCTTACTTTCTCTAAGAGGTCAGAGGAAATGTAAACAATGGTATCAACCAAATGGGGAAAAAGTAGATGGCGAGAACTCAGTCTAACTCAAGAGCAGCAGCTGGTAGAAGCAGGTGGAGAGGGGGGGACACAGGTAGAGGAGAGGGTAAGAATTTACCTATTTAGACATATATTGTATGCCACATTCTGTGCTAGATGCTGCACTCCATTGTTGCTTTACTTTCAAACATTTAAGGTAAGGAAATAAGGTTCTCCTCAGTGCAATGAGTTGCCCAAAATCGCATGGCTAGGAAGTGGTGAAGTTGTGGGTTGCTGTGAGTCTGCAATACAACTGCACCAGCTAGTACTGAACCTAGTTATCCCCAGTAAATGTTACTCCCCAGCTACAAGCAGAGATATGGACACTGCCTGCCCTCTACAGTTCTCTCCGTCTTAATAGGACTTTGGGGGTAAGCTAGGCAATTGCGCTAAACTTTACAGCACCATTCAATAAAGCAGCTCAGGACTTGCAGCTGAGCCTCAGCCCTGGAAAGGTCACCTGTCACTCTCCCCAGGGAACGTGTAAGGAGAGTGACTGGGGGGATTATTGGTTGCACGAGAATTTGCCAGGCAAGGAGGTGTACAAGTTTCTGGCATTGCCTTCCTTGGTCCCTTTTCACTGAGTGGGGACCCGGGCGTGGATGATAAGGGTGCTAACTTTGTCTTCCTTTCCCATCTGCTGATTCCCCGGTTCTGGGCTCAGGCTGGCTATCTGTGGAGTGGCGCCTGCAGGGCGACTCCTGCATCCTCCGCTGACTTCCCCTGTAGGTCTGAGTCATCTTGAATGCGTTCATGTACTCTGTAAGCTAAGTCATCAGCTTCCTAGTCCAGAAATCTTAGGAAGGAAAGTCACTTTCTAGTGGTTAAAGATGAGAAAAGTGGCAATTCTTTACATTTCTAGAAAATTTTTGTTTTTACAGCTCATTATTGTTCTCTTATCTTAGCCTTTCTTAGAGTAGGGGAAAGGTGGAAGTGATTCTTCCCCATCTTACAGAAGAAGGAAATGAGGCCCAGAAAGGTTTGTTGATTTACCCCAGATCCCAGAGTGAAGTGTGGACCCCCAGCCCTCTCCAGCCTCTGCTCTCTGCATCCCAAGCCAGCAGTACTAGAACTGTGGGCAAGAATATCCTCTCTCAGTTTAGGACACATTTTTGGGGAAGAGCTGTGAGCTTTGTCAAATAAAATGACTCATTCCATTTTCAAGAGGCATTGGCTTATGGGTTTAACTTTATGAATGTTTGGAGCATGCTCTCTTTGGAGGATGGGAAGGTGGTAGGTTCT
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GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCACACGATCTCGGTGAGAGTAAAGGGTACGTTGTGTGTATTTATCATTATGATTATGTTGCCAACCCTGAACACCATGCCCACCCTTCCCTCTGAGGGTGGTTGGGGGCAGAGTGAGTCGGAGAGACTTCCAGCCCACTGCTCAGTGGCAATGGCGATCTGCCATGGATGGTGTCACTCGCTGGACGTGAGAGGGTGTGTGCATGCCCGTGCATGGGGCAGGGGGTGTTAAGGAGATCCACCCTGGCCATCATCCAACTCTCCTTGGTGCCAGCGCTCCCTCAGCGGGTGAATTTCCTCCCACGGCCCATTTGGATCATTCCCAGAGCCTTTTTTTCCTTTCGTTTTGCATTCCCGTTTGTGATGTGTCACGTGAGCCCGTGCTGTCTGTGTACCTATGCATGATGCTGTGCTGCTTTTTAAAACTGGGGAGTGGTCATGGCCAAAATTATTTTCTAAAATCACTTCCTTCCCCCCAAAGCAAAGAGGGCCCACCCGAGTGATTGCAGGCACCAGAGCACGTGTCGTCATGGGTCCCCACCGTGTGTGGCAGGCTGCACTGGTCACTGTTTGGCCTGGGGCTGTATGGATGGTTGAGATAATGATGTTCGAGACCAGAGTATAGAAACTTTCTTAGCAGGCAGTCAGTTGATCTTGTGACCTTGGCTTCAGCACCATACACAAACTAAGGAGTTCTTAGACTTTGAGGGGTAGGGGGTGAGTATCAAGATTGTTGATAATCTGATCTGAAAGGCTCACTTCTCAGAAAAATCCACATTTCCACATATTCACAAAATTGTCTAAACAACTGAACAAGGTGGCCAGCTGAGAACTGCTCTAGCTGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGAAAGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAAAATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGGACATGCCTGTAATCTCAGCTACTCAAGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGCGCCACTGCGCCCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTCTAACCAAAATTCAGTGCCTAAAGAAATGTTCATTAGGCTTTTCCTAAATGGTCTGATCTTGCAAAACAGAGATCCAGAGGGACCAACTCAGTGCCCACTTTACCACCTTCCCTAGCAGTGGAGCCATTGGATGCACACCTCAAACACTGGTGACCTCTAAAAGCATCTGCCACCCAGGCCTCCTGTGAGGATTCTGATTTAGTAGGTCTGAGATAGGCCCTAACATCCCTTTTTTTAAAAAAAGCTCTTCAGGGGATTCTAGTGAGCAGCCCCAGTTTAGAACTATTGTTCTGTGAACTCAAAATAGACAGATCAGCATCTGTGCAGCCAAGCCAGCCAGAAACAGGCTGGACCAAGTTATCCCTGTGAGGATGAGCCCTGGGGCAGGTGGTGAGCACGTGGTGCTGGGACTCAGGGGCTCCTGCCATACTAGAGGGAGACTGCTTGGTTTCTTCTGCCTGTCCCATGCCATCTAACTCCCCTGCCTGTGTCTGTCTTGTCTTCCAGCTGCTCCCTACTGGCTGGACGAACCCAAGAACCTTATTCTGGCTCCTGGCGAGGATGGGAGACTGGTGTGTCCAGCCAATGGAAACCCCAAACCCACTGTCCAGTGGATGGTGAATGGGGAACCTTTGCAATGTAAGTAGCGAGCTGTTGTCCCATCTGACTCTCATCTCTCTGCTGTCAAAGGCTTCAGATCCCCATCACTGTAGCCAGTGCTGGTCACACTAGAAGTTCAGGAAGAGAGAAGCCCACTGGTGGCTGTTTCTCAGCTGCCCATCTCTTCAGACATCTCAAGAGGCAGGAAACCTACCCTCTCTTTGTGTGAGAGAACAGGAGGCCTGGAACTCTGTGGTCATATTCCCATGCTTAAGGGATTTCTGCTCCCTTGGGGTTTTTTAAATCTCTGCTTTCTCCCTCTGAACAACTTCAGAGCCCAGTTGATGGCCTGGGGACTGTGGCTGCATCTCTGGGTGGTTGGGCTTTGAGTGATGGCTGGGGCTGGGAAGGTAGAGGAGAATTCAGTAACCCATTGTTGGTTACTCAAGTTCCGCTCTCTGCTAAGGGCAAAAGAAGAAGCAGGGTTGTACAATAATGTGAAATATTATGGTTAGATATGAGGAAGAACTGCCCCCAGAAGAGCAGATGTACAAGTGCACTTTATCGAGTATGCTTAGACTTTGGGGACATTTAGTCCTGCCCAGGTGGATGGAGTAGATGACTCCAAGACCCCTTATAATCAGTGGCCTTGGTCAAGTTTTCACATCATAGACTCTCTGGTTGCATTACTTTTCAAAATGTCCTGTCCTTACTTTCTCTAAGAGGTCAGAGGAAATGTAAACAATGGTATCAACCAAATGGGGAAAAAGTAGATGGCGAGAACTCAGTCTAACTCAAGAGCAGCAGCTGGTAGAAGCAGGTGGAGAGGGGGGGACACAGGTAGAGGAGAGGGTAAGAATTTACCTATTTAGACATATATTGTATGCCACATTCTGTGCTAGATGCTGCACTCCATTGTTGCTTTACTTTCAAACATTTAAGGTAAGGAAATAAGGTTCTCCTCAGTGCAATGAGTTGCCCAAAATCGCATGGCTAGGAAGTGGTGAAGTTGTGGGTTGCTGTGAGTCTGCAATACAACTGCACCAGCTAGTACTGAACCTAGTTATCCCCAGTAAATGTTACTCCCCAGCTACAAGCAGAGATATGGACACTGCCTGCCCTCTACAGTTCTCTCCGTCTTAATAGGACTTTGGGGGTAAGCTAGGCAATTGCGCTAAACTTTACAGCACCATTCAATAAAGCAGCTCAGGACTTGCAGCTGAGCCTCAGCCCTGGAAAGGTCACCTGTCACTCTCCCCAGGGAACGTGTAAGGAGAGTGACTGGGGGGATTATTGGTTGCACGAGAATTTGCCAGGCAAGGAGGTGTACAAGTTTCTGGCATTGCCTTCCTTGGTCCCTTTTCACTGAGTGGGGACCCGGGCGTGGATGATAAGGGTGCTAACTTTGTCTTCCTTTCCCATCTGCTGATTCCCCGGTTCTGGGCTCAGGCTGGCTATCTGTGGAGTGGCGCCTGCAGGGCGACTCCTGCATCCTCCGCTGACTTCCCCTGTAGGTCTGAGTCATCTTGAATGCGTTCATGTACTCTGTAAGCTAAGTCATCAGCTTCCTAGTCCAGAAATCTTAGGAAGGAAAGTCACTTTCTAGTGGTTAAAGATGAGAAAAGTGGCAATTCTTTACATTTCTAGAAAATTTTTGTTTTTACAGCTCATTATTGTTCTCTTATCTTAGCCTTTCTTAGAGTAGGGGAAAGGTGGAAGTGATTCTTCCCCATCTTACAGAAGAAGGAAATGAGGCCCAGAAAGGTTTGTTGATTTACCCCAGATCCCAGAGTGAAGTGTGGACCCCCAGCCCTCTCCAGCCTCTGCTCTCTGCATCCCAAGCCAGCAGTACTAGAACTGTGGGCAAGAATATCCTCTCTCAGTTTAGGACACATTTTTGGGGAAGAGCTGTGAGCTTTGTCAAATAAAATGACTCATTCCATTTTCAAGAGGCATTGGCTTATGGGTTTAACTTTATGAATGTTTGGAGCATGCTCTCTTTGGAGGATGGGAAGGTGGTAGGTTCT
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Task1_train_2540
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Here is a variant affecting NFASC (neurofascin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction
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ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACGTGGGGGGTTGGAAAGATCACTCTGACACTGTGGCGGGGGCCTGCTGGGAGCAGGAGTGGAAGCAGGGATGGGACTTTTCTCTGCAGCCTACCTAGATCATGGTACTCACAAGCCTTGTTCTCGCAGGCCTCACCTGCTTTTCAGCCCGGGGCGCCCTGGGCAACCAGAGTGCAGAGGACACGTGTTCATCAGTCTTCACCCCGTACTGGCAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAATCAGTCTTCACCCCGTACTGGGAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAAACAGTTTCTGCCCCCAAGAGGAGCAAAGGGTGGGCTTGCACCCAGATAACTGCCCCACAAATGGCATGTGCTGAAGACCTGGGGGCGCAGGTGCTGTGGCCCTCATGCTTTTCCCCGTGCTCCTGGAAGGAGGCTCAGTGCCTTGGCGCCAGCTCCATGGTTCTTGGGGCTCCTGCTGTTGTGTGCCTCTCCCCAGGTGTCTCTGGGCTGGCTGGTTCCAGGGTTACTCTGGGTGTATTCAGTTCCTTTGATCCTTCCCTTCTGTCACAGTCTCACGTTCTGTGACAGGCTGCATTTCAGGAGGGGTCGCTTTTGTTCTCCAGCCGGTAGAAAGGAGAAGGGTGAGTTGGTACTGACCACACCCCCCCTCCCAAACCCAAACCCAGCCATTGGGTCATCAAGGACACCCTCAGGTGACTCCTTAGCACCTGTACTTCAGGCCGTCCTGCAGGCCTTTTAAATCACAAAGGGATCTGCCCACTTTGAAACAGGTCTGCACATACGCTGGGCATGGACAGAGAGGGACTCACTGTCACAGGGGTTGGAGGGGGAACATCGGCTTGTCACAGACCACCGGGGGGGTCACCCTGTGTGGAGTAGCCTGGAAGTGGCATGGAGTGAGCAGAAGGCACAGCCCCAGCCCCACATCGCTGCTGGCCTGGCTAGGGGTACCCACACCAGGATTGCCTTTGCTGTCAGGAAGCGCAGGATCCACTAGAGAGATGTGAAAAGATGACAGGGCATCCTGGGCCTCCACTTGGTCCAGTCCCCACCCTCAGGAAGCCTGGATGGCTTCAGAGCCATGCTGGTGGGCAGGGATGCTGCCGTGTGCCTGTGCAGGCCTGCGAAGGTGTTCTCATAGCAGGTTTTTGCAACGTGGCCACGGCCTGCACTCCCTGATGGGTAGCTTGCCGGCTCCCATTTCTCCACCCTGGACTCATCCATGGGGAATCATACTTCCATGGCCAATCCGTGGCCATCCCTCAGTCCCCATTAGGCTGTGACCAGCCCTCTGGTTTCCAAGAATGCCGTGCTTCATCCCTATGACACTTTCCCCTTCCTAAAGGACCTGTTCAACCTTCTGCTTATTTGCTCCTTGTACCCCTTTCCTTTGCCTCTTTTCTGATCTTTTGACCTTGGCTCTTTAATTATTTTCTTTTTGTCCTTTAGCAGGGTAGTTTGGGCCAGGGGGCTGCTAGGTGGTAGTGTTAGGCTCCAGGAGAAACATCCACATGAGATAGCTGAAGTTCTTCCCTCCATCTCCCTCCTCACCATCTCCCCCATGAAATCATTCACGGGTTTGCTTCCGGCCCTCCCCGCCAGCTTACACCAACAACCAAGCGGACATCGCCACCCAGGGCTGGTTCATTGGGCTTATGTGCGCCATCGCCCTCCTGGTGCTGATCCTGCTCATCGTCTGTTTCATCAAGAGGAGTCGCGGCGGCAAGTACCCAGGTGAGATGTGCAAGAGGCGTGGGCTTGCAGGGTGGGGCACGTCCACTTTCCCGTGAGTCTCCAGGTCTCCAGCCAGATCCGGGGAATGTGTTCTCTCAGTGAAGCCAGCCCTTGCCCGGATTGGAAATACAATCCTCTTGCCTGTGCATCTTCAGACTGCCAGCGAGCACTTGAGTTAATTAAGTTCGCCTGAGTTGGGCGGATGGCACAGTCCAGGCGGCCTCAGAGAGGGGATGGAAGGAACCCTGGCTCCTATTAAGAATGACCTTTCCTCCCCTTGACTCACCACCCATCTGTTCTATAAATTGGCTTTTTTTCAGCCTGAATCTCATTAGGATCCTGTGTCCCAGGGAAGGAGAAAGGAAGAGAGGCATTTTCCCTAACCGTGTCCCAGAGAATGGGGAGAGGAGGGGCCTGGGCAGAAGCAGCACCCACATGAGAGAGTTCCAGAGGTGGGCGCTCAGCAGGACAACAGTGTAACTGCCAATACCACTAGCAAGGGTCAGAAGCGAGGAGCAGGGAGAGGCTGAAGATGGGTGGCACTGGTAGGGACCCCCATGGCCCTAAAGCACTTTGGGCTTCCCTAAAATCCCAAGGATACCTCAAGATCCTTCAGCCCCTAGCCAGGCACAATGACTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGAGCAGGTCACTTAAGGTCAGGAGTTTGAGGCCAGCCCAACCAACATGACGAAACTCCGTCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCAGGTGTCGGAGGTCCCAGCTATTCAACAGGCTGAGGTGGGAGGATTACCTGAGCCTGGAGAGGTCAAGGCTGCCATGAGGCGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAATAAATAAAATTTTTTAAAAGATCCTCCAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACCAAAAATACAAAAAATTAGCTGGGTGTTTTGGCACGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAAAAAAGGAAAAAAAAAAAAAAAGATCCTGCAGCCCAGACATAACCAAGGTCAAGGATAAGGACCTCTGGCATTCTTGTTTCTGGAAATATTGACTGTTTTTTACACAGGAGCAAGAGAGCCATCTGTCTGTGATGGGGTGGGTAGGGACAGGAGACAGGATAATGGATGACCCTGAAAGCAAAGATCTGGCTGGACCACAGAATGCAATTTCTCCCTGCTCCAGAAAGCCCCATCACCAAACACAACCCATGCTCCCCAAATGCTTCCTTCTCCCCATCTCTTAGAACAGGTCCTCCCCCAGGACCCCCCCCAAAACTCAACACAAAGGAAATAGAAGGGAGAGGAGACTGGATTCTTTTTCATTCCCCATGCCCAAGTACCCACAGACTAGGACTCTGAAGAGCTGTGCCTTAAGTGAGGGAGGGCAGGAAATGATTGTCCCTTACTGGTGAGCGATGTTTTCTTTCACTCTGTTCTGCTGTGCTGGGCCTGTCTGGTTCTGTAACAGAGAAAGCCTGAGTTAGGGAAAAGGCTGCCTCCTCCGTCTGACAGTCAGACTTGGGTGGACTGAGTTCACGCCCATTCCAGGTGGAAGTGGAATACTGGAAGAACCCAGCAGATCAACTCTGAGCTGCCCTTTGCCCTTTCAGAAAGTATCTCATTCCAAACAGTTCTTCGAAACTAACCTCTTGCCCTCCAGCTACAGAGTAAGCCCCTGGTCCCTTAAAAAGATGAGTGAACCAGGAGCTACAAGGCCTGGTTGCTAGCCTTCCCT
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ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACGTGGGGGGTTGGAAAGATCACTCTGACACTGTGGCGGGGGCCTGCTGGGAGCAGGAGTGGAAGCAGGGATGGGACTTTTCTCTGCAGCCTACCTAGATCATGGTACTCACAAGCCTTGTTCTCGCAGGCCTCACCTGCTTTTCAGCCCGGGGCGCCCTGGGCAACCAGAGTGCAGAGGACACGTGTTCATCAGTCTTCACCCCGTACTGGCAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAATCAGTCTTCACCCCGTACTGGGAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAAACAGTTTCTGCCCCCAAGAGGAGCAAAGGGTGGGCTTGCACCCAGATAACTGCCCCACAAATGGCATGTGCTGAAGACCTGGGGGCGCAGGTGCTGTGGCCCTCATGCTTTTCCCCGTGCTCCTGGAAGGAGGCTCAGTGCCTTGGCGCCAGCTCCATGGTTCTTGGGGCTCCTGCTGTTGTGTGCCTCTCCCCAGGTGTCTCTGGGCTGGCTGGTTCCAGGGTTACTCTGGGTGTATTCAGTTCCTTTGATCCTTCCCTTCTGTCACAGTCTCACGTTCTGTGACAGGCTGCATTTCAGGAGGGGTCGCTTTTGTTCTCCAGCCGGTAGAAAGGAGAAGGGTGAGTTGGTACTGACCACACCCCCCCTCCCAAACCCAAACCCAGCCATTGGGTCATCAAGGACACCCTCAGGTGACTCCTTAGCACCTGTACTTCAGGCCGTCCTGCAGGCCTTTTAAATCACAAAGGGATCTGCCCACTTTGAAACAGGTCTGCACATACGCTGGGCATGGACAGAGAGGGACTCACTGTCACAGGGGTTGGAGGGGGAACATCGGCTTGTCACAGACCACCGGGGGGGTCACCCTGTGTGGAGTAGCCTGGAAGTGGCATGGAGTGAGCAGAAGGCACAGCCCCAGCCCCACATCGCTGCTGGCCTGGCTAGGGGTACCCACACCAGGATTGCCTTTGCTGTCAGGAAGCGCAGGATCCACTAGAGAGATGTGAAAAGATGACAGGGCATCCTGGGCCTCCACTTGGTCCAGTCCCCACCCTCAGGAAGCCTGGATGGCTTCAGAGCCATGCTGGTGGGCAGGGATGCTGCCGTGTGCCTGTGCAGGCCTGCGAAGGTGTTCTCATAGCAGGTTTTTGCAACGTGGCCACGGCCTGCACTCCCTGATGGGTAGCTTGCCGGCTCCCATTTCTCCACCCTGGACTCATCCATGGGGAATCATACTTCCATGGCCAATCCGTGGCCATCCCTCAGTCCCCATTAGGCTGTGACCAGCCCTCTGGTTTCCAAGAATGCCGTGCTTCATCCCTATGACACTTTCCCCTTCCTAAAGGACCTGTTCAACCTTCTGCTTATTTGCTCCTTGTACCCCTTTCCTTTGCCTCTTTTCTGATCTTTTGACCTTGGCTCTTTAATTATTTTCTTTTTGTCCTTTAGCAGGGTAGTTTGGGCCAGGGGGCTGCTAGGTGGTAGTGTTAGGCTCCAGGAGAAACATCCACATGAGATAGCTGAAGTTCTTCCCTCCATCTCCCTCCTCACCATCTCCCCCATGAAATCATTCACGGGTTTGCTTCCGGCCCTCCCCGCCAGCTTACACCAACAACCAAGCGGACATCGCCACCCAGGGCTGGTTCATTGGGCTTATGTGCGCCATCGCCCTCCTGGAGCTGATCCTGCTCATCGTCTGTTTCATCAAGAGGAGTCGCGGCGGCAAGTACCCAGGTGAGATGTGCAAGAGGCGTGGGCTTGCAGGGTGGGGCACGTCCACTTTCCCGTGAGTCTCCAGGTCTCCAGCCAGATCCGGGGAATGTGTTCTCTCAGTGAAGCCAGCCCTTGCCCGGATTGGAAATACAATCCTCTTGCCTGTGCATCTTCAGACTGCCAGCGAGCACTTGAGTTAATTAAGTTCGCCTGAGTTGGGCGGATGGCACAGTCCAGGCGGCCTCAGAGAGGGGATGGAAGGAACCCTGGCTCCTATTAAGAATGACCTTTCCTCCCCTTGACTCACCACCCATCTGTTCTATAAATTGGCTTTTTTTCAGCCTGAATCTCATTAGGATCCTGTGTCCCAGGGAAGGAGAAAGGAAGAGAGGCATTTTCCCTAACCGTGTCCCAGAGAATGGGGAGAGGAGGGGCCTGGGCAGAAGCAGCACCCACATGAGAGAGTTCCAGAGGTGGGCGCTCAGCAGGACAACAGTGTAACTGCCAATACCACTAGCAAGGGTCAGAAGCGAGGAGCAGGGAGAGGCTGAAGATGGGTGGCACTGGTAGGGACCCCCATGGCCCTAAAGCACTTTGGGCTTCCCTAAAATCCCAAGGATACCTCAAGATCCTTCAGCCCCTAGCCAGGCACAATGACTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGAGCAGGTCACTTAAGGTCAGGAGTTTGAGGCCAGCCCAACCAACATGACGAAACTCCGTCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCAGGTGTCGGAGGTCCCAGCTATTCAACAGGCTGAGGTGGGAGGATTACCTGAGCCTGGAGAGGTCAAGGCTGCCATGAGGCGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAATAAATAAAATTTTTTAAAAGATCCTCCAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACCAAAAATACAAAAAATTAGCTGGGTGTTTTGGCACGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAAAAAAGGAAAAAAAAAAAAAAAGATCCTGCAGCCCAGACATAACCAAGGTCAAGGATAAGGACCTCTGGCATTCTTGTTTCTGGAAATATTGACTGTTTTTTACACAGGAGCAAGAGAGCCATCTGTCTGTGATGGGGTGGGTAGGGACAGGAGACAGGATAATGGATGACCCTGAAAGCAAAGATCTGGCTGGACCACAGAATGCAATTTCTCCCTGCTCCAGAAAGCCCCATCACCAAACACAACCCATGCTCCCCAAATGCTTCCTTCTCCCCATCTCTTAGAACAGGTCCTCCCCCAGGACCCCCCCCAAAACTCAACACAAAGGAAATAGAAGGGAGAGGAGACTGGATTCTTTTTCATTCCCCATGCCCAAGTACCCACAGACTAGGACTCTGAAGAGCTGTGCCTTAAGTGAGGGAGGGCAGGAAATGATTGTCCCTTACTGGTGAGCGATGTTTTCTTTCACTCTGTTCTGCTGTGCTGGGCCTGTCTGGTTCTGTAACAGAGAAAGCCTGAGTTAGGGAAAAGGCTGCCTCCTCCGTCTGACAGTCAGACTTGGGTGGACTGAGTTCACGCCCATTCCAGGTGGAAGTGGAATACTGGAAGAACCCAGCAGATCAACTCTGAGCTGCCCTTTGCCCTTTCAGAAAGTATCTCATTCCAAACAGTTCTTCGAAACTAACCTCTTGCCCTCCAGCTACAGAGTAAGCCCCTGGTCCCTTAAAAAGATGAGTGAACCAGGAGCTACAAGGCCTGGTTGCTAGCCTTCCCT
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Task1_train_2541
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The gene SLC41A1 (solute carrier family 41 member 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Nephronophthisis-like nephropathy 2
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CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACCTATCCTTGGAGATGAAGGGAAGCACCATGGCTCTCAGGAGTTCCTCACCATCCAGTCCTTGCCTCCCTTGACAGGATTAGGTGCTGCTCATAACATTCTGACTGGGCACAGTGACTCCAGAACAAGCTGGTGGTACTGGGTCAGGCAACCACCTCCTGTACCTGCCCTCTAAGTTGGCCGGAGGAGCAGCCTGCAGGACTATCTGCCTCTGAGGACCTCTGTTGTTCTGCCCACTCAGCATTTACTTCCCTTTCTGGTGATAGCACTGGGCTCCTCCACAGGGAACCACCTCTCTCAAGCTCAGTGACTGTGGCTCAGGTGACAATGCCTCAATGATAGCTAGGCTCCAGGTCCATCCAATCAGAGGATTGCAGCCCCAAGGCCACGCTGACTGGTTTGGAGATAATCATGTCACCAGATGAGAAGCAGTGGAACTCTATTCTGGGACTTTGTGGAACTGTTGGGGGAAGAATCTCTCTTCCCACTGGAATTTGTAGGAGTAAGAAAAGCATAAACCTGGGCTGTAGGCCATGACAGAGAAGAGCAGAGCTAAGAGTCACAGAGTACTGGGGCCCTGATCTTAGGTATGTCGCTGAATTCAGCTGTGCCTTTTTGGTTCTCCAGGCCAATACATTCTGCCTTGGAATGAAACCCAGTTCAGATGGTTTCTGTCATTTTCAACAGAAGGACATGTGACTGAAACACTAATGAACACATTTCTAGGGTCTGACCCCCACCCCATCTCTCCAGGGTTTAAAAAGAAGTCTGTGGAAGGGTTGGAGTGGGGTAGGAGTGGATACTCAGGGCCCCAGCCTACCTGCTGATGGCCATGGCAATGATAACAGGCTCCCAGCCCGAGTACAACACCTCCCTTGTGGCTGGACTTCGTCGGGCCAGCACCACCCAGACAGGCAGCAGGGCCACAAAGAAAGCACACACCAGTGGGTAGATGTATCGCCAGTGATCTGAGAGGGCAGAGGTCAGAAGGAGATAAGCACTGTGTTTCCCTACCCTAAGTTTCTCCCTGGCTCAGCCTGAAAATGTCCCAACAGATCAATAGCAAGACTACACTAAATGCCAGTAAACACATTATCCCATTTGATCTTCACTGGCAGCTCAGGAGGTAGGTGGGACAAGCCTTTTCCATTTTATGGATGAGGAAACCAAGGGAGAGAGCTAGCCAGGCACTGAGCCAATTAGGGACAGAGACCAGAGGACAGAGACTCTAGGTCTCTTGATTGGAGCCCAGAAAACACCATCTCCCACCCGCTTCTTCATTTTGCAAGCAGATCTAAGCCTCTGGTTCCTTTCCTTTACCCTTTCCACCTCATCCCTCCAAGAGAAGTAAGAATCTGCAGGACCACACAGGAATATACTTCTGATACTTTTCCCCTGCCCCTGATGCCTGCTTGAATTTGAGATCAGTACTTAGCTTCAAATCTCTAAGATCAGGAATTATTACAACCTGTGTTCAAACCAAATAGTTTAAGAACACAGAAGAAACTCTTGCACATTTGCAAACTACTACCATCTCTCCCAACCCCACCCAGGACTCCAAGAAGCCACACTCTTGGTGGCTCACTCAGTTCCAGGTAGAGTCCCCAGCTGATGCCTGAGAGCAGCGCCAAGGTGATGAGGTCGCCCAGGCTGGCAGCAATGGGTGTGGCCACGTTGTCTGGGTTGATCCCAATCTTGCGAGAGCCAATGATGACTCCAATCATGATCATACCTGGTGAGCAAGTGGGAGGAGGGGCAGGCAGGGTGAGAAGAGATAAAGGAGTCTCAACAAACAAAAAGAGAGAGTGGAAGTGCCAGGTGCAGTGTTCTCTGGGGCGGCACTCCTTACTCCTCTATGCCCTCCCTTTCTTACCCAGTACCAGGGAGGCAATGAAGGCTGTGGCCACGCTGCTAGCACAGAGCAGGAAGGCGTGCGGAATACTGAAGTGGCCATCAGGGATCCAGCCAAAGACGACGGCTGCGATGGACGCCAGGAAGCCCACCACCGTGGCCTGCACCTGGGGACAGGAGTGGTAACTCAGAAAGCCCTGAGAGCAGTGGGCTTCCTAAGCTGAGGTCATAAGCATCTGGGCAGACCTCTTCCTGGCTGGCAGTAGCCCCAGGAGGCAGGCTGGACTGCATGGTCCAGTCCTCCCAGGCTGGAAGGATGTCTTTATTTATTTAGGTTCACACCAGCCACTAGTACTGGGCAGTGCACTCTGCAGGAGCCCAGAACATGTTACTGGCTGAATGAGTGTGCCTCTGGGGATGGGAGTGAGGTTCAACAGAGCCGGAGACTTCCACCCAGAGTCAAGGCCTGGGCCTCAAGGGGGAAGGCTCCCAGTCTGAACCTGTGTGGTCTCATGGGGAGATGGGACAGCAGTGGCACAGGACATCTCAGCACTCCTGAGTCTGCTCATATTGCCAGGATCTGCTGGGACTCAAAGGCACGTGCACCACCAAGAACTGAGAACCAGAATGGGTGATGCTGGGCCCTCCTCATCTTGGGCGTTTTCCTGGGTAACCTAGTTACCTCCTAGAGCTACTCTGGGGGAAGCCAGCTCAGTGGGATACTGGAGATTCACTCAGGAGCCTGCTGGGGCTGACCTAAGCCTTTCAGAGATTCCTGACTAAGGGGAAGCTTAGCCCACCCTCTCTGGTCCCTGCCTTCTTACCTGGATGAGGGCCATGTTCCCAGTGATCATCCGCCAGAGCTCCTTGGGTGTGTCCATGTGTCCAATGTTGGCCTGGGAAAGGGAGGGCAAGGGGCTGGAGCTTCAGGCTGGAAAAGGCCTGAAGCTCCATCCATTAGGCTCCTGCCTAGATCATGAGGCAGTACATGTGGCCTAAGACTCTGAGAGCAGGACCTGACAGTCCCGGAAAGGTGAAGCAGGATCAGGGAAACTGAGGTGAAAGGGAAGGAGCTAAAGCTGGGCTCCTGCAGCTGGGTGGGGGGTTGGAAGGGGGTCCCCTAGGCAGTCGCCTCTCTTCCTCTCAGGACACCAGCTGAGCAGAGGCAAATTCTATCCTTTGCCCTGCTTATCTGGGCAGCCCATTCCTGCATGGGTCAGAACAACCCAGTCCCTGACTCTGAAGCCAGCCTGCGATCCCAGGGAAGGAAAGGTCAGCTGCTGGTGCAGGACTGAGGCTCCAAGAGTATTTGGGAAGGAGTGGGTGGCATGGGCCAGAAGTCGGGTATGGCAAGTCAGGGTGGGTTAACTTGGATGCCACTTCTGTCTGTCACCTTCTCTAGACTCTTGACCCTGCAGGGAGATCCCTGGCCTCCTGAGTTTTATCATCTCCCACCTCCAGCCCAGGGCCCTGTATCTGTTCAGGCCCGGAATCGTCACGGCTCACAACTGTGGGAGGTAGGAATGACGAGCAGCTCCTCTCTGTCTGTTTCCTTAAAGAAGAGCAAGCTGCCATGGGTAAAGGGAATGGGATGGCCGGGGGGCTGGGGGTGCTGGGAGGGCCTGGCTCTGCTCCCGCCCAGCTGCAAAGCAGGGGCTGGAGATCAGAGGAGGCCCCCATCTGTGCGGGTGGAGGAACCAGCATGATGCCTGCCTGTCAAAGCTGCACAAACAGTCACGAGGTGGTTGAGAGGTAGGGGGTGGGGCAGGAGTCCAGGGGTGGCTGGGACATCCAGAAACCAAGCCTGGGAACCACTTTGGGCAGGGAGCCCCTGCCCAGGAGCAGGACACCCAGCCTGGGATCTCCCTACACCTGCCCAGCCAGGCCCTCCCTTCCCACCCCAGCCCCACACTCCAGGCCTGGGCAGT
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CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACCTATCCTTGGAGATGAAGGGAAGCACCATGGCTCTCAGGAGTTCCTCACCATCCAGTCCTTGCCTCCCTTGACAGGATTAGGTGCTGCTCATAACATTCTGACTGGGCACAGTGACTCCAGAACAAGCTGGTGGTACTGGGTCAGGCAACCACCTCCTGTACCTGCCCTCTAAGTTGGCCGGAGGAGCAGCCTGCAGGACTATCTGCCTCTGAGGACCTCTGTTGTTCTGCCCACTCAGCATTTACTTCCCTTTCTGGTGATAGCACTGGGCTCCTCCACAGGGAACCACCTCTCTCAAGCTCAGTGACTGTGGCTCAGGTGACAATGCCTCAATGATAGCTAGGCTCCAGGTCCATCCAATCAGAGGATTGCAGCCCCAAGGCCACGCTGACTGGTTTGGAGATAATCATGTCACCAGATGAGAAGCAGTGGAACTCTATTCTGGGACTTTGTGGAACTGTTGGGGGAAGAATCTCTCTTCCCACTGGAATTTGTAGGAGTAAGAAAAGCATAAACCTGGGCTGTAGGCCATGACAGAGAAGAGCAGAGCTAAGAGTCACAGAGTACTGGGGCCCTGATCTTAGGTATGTCGCTGAATTCAGCTGTGCCTTTTTGGTTCTCCAGGCCAATACATTCTGCCTTGGAATGAAACCCAGTTCAGATGGTTTCTGTCATTTTCAACAGAAGGACATGTGACTGAAACACTAATGAACACATTTCTAGGGTCTGACCCCCACCCCATCTCTCCAGGGTTTAAAAAGAAGTCTGTGGAAGGGTTGGAGTGGGGTAGGAGTGGATACTCAGGGCCCCAGCCTACCTGCTGATGGCCATGGCAATGATAACAGGCTCCCAGCCCGAGTACAACACCTCCCTTGTGGCTGGACTTCGTCGGGCCAGCACCACCCAGACAGGCAGCAGGGCCACAAAGAAAGCACACACCAGTGGGTAGATGTATCGCCAGTGATCTGAGAGGGCAGAGGTCAGAAGGAGATAAGCACTGTGTTTCCCTACCCTAAGTTTCTCCCTGGCTCAGCCTGAAAATGTCCCAACAGATCAATAGCAAGACTACACTAAATGCCAGTAAACACATTATCCCATTTGATCTTCACTGGCAGCTCAGGAGGTAGGTGGGACAAGCCTTTTCCATTTTATGGATGAGGAAACCAAGGGAGAGAGCTAGCCAGGCACTGAGCCAATTAGGGACAGAGACCAGAGGACAGAGACTCTAGGTCTCTTGATTGGAGCCCAGAAAACACCATCTCCCACCCGCTTCTTCATTTTGCAAGCAGATCTAAGCCTCTGGTTCCTTTCCTTTACCCTTTCCACCTCATCCCTCCAAGAGAAGTAAGAATCTGCAGGACCACACAGGAATATACTTCTGATACTTTTCCCCTGCCCCTGATGCCTGCTTGAATTTGAGATCAGTACTTAGCTTCAAATCTCTAAGATCAGGAATTATTACAACCTGTGTTCAAACCAAATAGTTTAAGAACACAGAAGAAACTCTTGCACATTTGCAAACTACTACCATCTCTCCCAACCCCACCCAGGACTCCAAGAAGCCACACTCTTGGTGGCTCACTCAGTTCCAGGTAGAGTCCCCAGCTGATGCCTGAGAGCAGCGCCAAGGTGATGAGGTCGCCCAGGCTGGCAGCAATGGGTGTGGCCACGTTGTCTGGGTTGATCCCAATCTTGCGAGAGCCAATGATGACTCCAATCATGATCATAACTGGTGAGCAAGTGGGAGGAGGGGCAGGCAGGGTGAGAAGAGATAAAGGAGTCTCAACAAACAAAAAGAGAGAGTGGAAGTGCCAGGTGCAGTGTTCTCTGGGGCGGCACTCCTTACTCCTCTATGCCCTCCCTTTCTTACCCAGTACCAGGGAGGCAATGAAGGCTGTGGCCACGCTGCTAGCACAGAGCAGGAAGGCGTGCGGAATACTGAAGTGGCCATCAGGGATCCAGCCAAAGACGACGGCTGCGATGGACGCCAGGAAGCCCACCACCGTGGCCTGCACCTGGGGACAGGAGTGGTAACTCAGAAAGCCCTGAGAGCAGTGGGCTTCCTAAGCTGAGGTCATAAGCATCTGGGCAGACCTCTTCCTGGCTGGCAGTAGCCCCAGGAGGCAGGCTGGACTGCATGGTCCAGTCCTCCCAGGCTGGAAGGATGTCTTTATTTATTTAGGTTCACACCAGCCACTAGTACTGGGCAGTGCACTCTGCAGGAGCCCAGAACATGTTACTGGCTGAATGAGTGTGCCTCTGGGGATGGGAGTGAGGTTCAACAGAGCCGGAGACTTCCACCCAGAGTCAAGGCCTGGGCCTCAAGGGGGAAGGCTCCCAGTCTGAACCTGTGTGGTCTCATGGGGAGATGGGACAGCAGTGGCACAGGACATCTCAGCACTCCTGAGTCTGCTCATATTGCCAGGATCTGCTGGGACTCAAAGGCACGTGCACCACCAAGAACTGAGAACCAGAATGGGTGATGCTGGGCCCTCCTCATCTTGGGCGTTTTCCTGGGTAACCTAGTTACCTCCTAGAGCTACTCTGGGGGAAGCCAGCTCAGTGGGATACTGGAGATTCACTCAGGAGCCTGCTGGGGCTGACCTAAGCCTTTCAGAGATTCCTGACTAAGGGGAAGCTTAGCCCACCCTCTCTGGTCCCTGCCTTCTTACCTGGATGAGGGCCATGTTCCCAGTGATCATCCGCCAGAGCTCCTTGGGTGTGTCCATGTGTCCAATGTTGGCCTGGGAAAGGGAGGGCAAGGGGCTGGAGCTTCAGGCTGGAAAAGGCCTGAAGCTCCATCCATTAGGCTCCTGCCTAGATCATGAGGCAGTACATGTGGCCTAAGACTCTGAGAGCAGGACCTGACAGTCCCGGAAAGGTGAAGCAGGATCAGGGAAACTGAGGTGAAAGGGAAGGAGCTAAAGCTGGGCTCCTGCAGCTGGGTGGGGGGTTGGAAGGGGGTCCCCTAGGCAGTCGCCTCTCTTCCTCTCAGGACACCAGCTGAGCAGAGGCAAATTCTATCCTTTGCCCTGCTTATCTGGGCAGCCCATTCCTGCATGGGTCAGAACAACCCAGTCCCTGACTCTGAAGCCAGCCTGCGATCCCAGGGAAGGAAAGGTCAGCTGCTGGTGCAGGACTGAGGCTCCAAGAGTATTTGGGAAGGAGTGGGTGGCATGGGCCAGAAGTCGGGTATGGCAAGTCAGGGTGGGTTAACTTGGATGCCACTTCTGTCTGTCACCTTCTCTAGACTCTTGACCCTGCAGGGAGATCCCTGGCCTCCTGAGTTTTATCATCTCCCACCTCCAGCCCAGGGCCCTGTATCTGTTCAGGCCCGGAATCGTCACGGCTCACAACTGTGGGAGGTAGGAATGACGAGCAGCTCCTCTCTGTCTGTTTCCTTAAAGAAGAGCAAGCTGCCATGGGTAAAGGGAATGGGATGGCCGGGGGGCTGGGGGTGCTGGGAGGGCCTGGCTCTGCTCCCGCCCAGCTGCAAAGCAGGGGCTGGAGATCAGAGGAGGCCCCCATCTGTGCGGGTGGAGGAACCAGCATGATGCCTGCCTGTCAAAGCTGCACAAACAGTCACGAGGTGGTTGAGAGGTAGGGGGTGGGGCAGGAGTCCAGGGGTGGCTGGGACATCCAGAAACCAAGCCTGGGAACCACTTTGGGCAGGGAGCCCCTGCCCAGGAGCAGGACACCCAGCCTGGGATCTCCCTACACCTGCCCAGCCAGGCCCTCCCTTCCCACCCCAGCCCCACACTCCAGGCCTGGGCAGT
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Task1_train_2542
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A mutation found in CD55 (CD55 molecule (Cromer blood group)) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Protein-losing enteropathy
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AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTAAAGAAGTCTAAGGGTCAGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGACAGAGGCAGGTGGACCACTTGAGGTCAGGAGATTGAGAGTAGCCTGGCCAACATGATGAAACCCTGACTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTTCTTGGAAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGTCACCGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAAGGATAAGAAATATCAATGGTTCAGATGATGAATTTACATATATGTGCTTGATAATTTTTTCAAAATTTTTACCTGAGCTTTATTGAGGTATAATCGACAAATATTATCTTAGGTGTACAACATGATGTTTTGATATATGTGCACATTGTGAAATGATTAACACAGTCAAGCTAATTAACATATCTACCACCTCACATAGTTACCTTCTTTGTGTGTATGCCTGATAATTTAATTTTAAAAAATCAATTTGTATTCTATTCTAGAGAAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATATTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGGGTAAGTTTGGGCATACTAAAACCCTGTATTTAGGAAATGAGAAAACAAATTAGGACTTAAGGTGAGATTGTTAGTTTCATGACTGGTATTCACAGCTAGTAGCAATTAAAACAATCCCTCTCCTCAAAGACCCTTCATCATGAGCTCATCACAGTTAAATTTAGTAAAATGGGGGCAAGAAAGGAAGATTTCTTAAACCACCAGAATTCTCTAAATTCTGATTTCAGTAAATATGTGATTCAATATAAAATTTTAAATGTGATTAATAAAAAAATTTGAGATGATGATACTTGCAGAAATCTTCAAATGTTAAATACTAAACCAATCTTTAGTTGACCTAAATAATGAATTTGCATGAGTTTTTCTATATGCAAACAAGCTGTTACAAAACAGCATGAGTTAAAGACATTCCTAGTGTGAAAGTATTCTAAGTTCTTTGATAAGTTCTCTGTATAGGGAGAAGGAACTCATTCATTGAGTACCATCAATGTCTCAGACACTGTTGAAAACTTTACATTTATTTTCTCATTTCATATCTGTAAATTAAATAATTCTATTTTACTCTGTGTGTGTCCCTATTCTTTATAAAGTAAAAATATCAGTATCACTTGTCTCCTATACGAAACACAGATATTGGTTAGGTCATGAACACAAAATCTGGGAAGTACTTTGAACCCTTTAAATATAAGTACATTCTATTATTCTGTGAAGCCCATATTTAGAACTCAGAGGTATAAAATGTTCAATCATCTATGTCATTTAAAAATGTTTAAAACACTTTTATGCTTTCTAACATATTCCCCATGCAAATAAAAAATGTACATGTCTTATCTGTTTTTACTCTTTGGATGTCACGTTTTTAAACTTAATTTTTCTTTTCCTTTAAACTACTGTGTGGACTTTTATCAACTACTGTTTTATATTCACCTAATTGTGTAGTAAATATTTTAAGATAATAACCTGGAGAATTTGAGGAAAGTCAAATATGTGTGAATGTAACAAACTCTTTTTTCTTCCCCTGTTGCTTTAGGTACAAATTATTTGGCTCGACTTCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGCAGAGGTAAGAGTTAAAAAATCTAAGCACTCAGATTGTGAGGCTGAGTACTCAATGATAAATTAATTTCTGCCCCTTAAGAATATTAGCACAGTGTGTATTTGTAGCAAACCCACCTTTCAATATATGAGTGCTTTGCTAATTTTAAGACCTTTTCTAGTGATGTTCCTTCATTTAGCAGCTGTGAAGATAAACCAGCAAGTTTTCTGAGTCCCAATTCCCAAATTGTAGAATGAGGATTAAAAACAAACTTAGGTTTGTATTGCACTTGGTCATTTATTGTCTAACCATTACTTCTAAAGTCAAGTATGATAGGTGAAAGATTTCCGCCCCACAATTTTGTGTAAGAAAATAGTGTCAATCAGAGGGTCTGTAAGACTTGACCCCATATCCTAAAACAAGTGGCAATGGAAGGCATTTAACCAGGTCTCTTATTTCAAACCCAGCATTTTTCTAAAATCCAGTGTTGCCTACATGCTGCTTCTTAGGATTAAAATAATTAACCGAGATAATTATCTAGAGGGGTTTTAAGGTGTGATATATTCTTATCATTAGAGAGATAAGCTTATACCGTCAAGAAGAAATACTGTGTCTGTATTTGAGAATCTTCTCAAAGAAAGATATGGTGCAGAAATAATATTATAAATGGATATATATCCAGTCAAATTTATGTCAATTAGAGACACATGTCTCTTGGAAATTGAGAGGAATAAAATACATGCAACATTTTAAAATGTAGGCTTGCTTTCTTTCCATCCTTCTCTCTCTCCACACACAATGTGCCCTCCTGCAAATGACTTCTGAAGGCCCTATTGTCAAAATTATTGATAAGTTAAAGTTTTTGTATGTTACTAGGGGAAGAAAACTAGAGTAGATTTAGTGTAATTTATCAAGCATTTATCGATTGACACTCTGGTAGGCAACGTGTACGGTCAACTGACACGAAGACAAATAAAATGAAGCCGTGCCATTAAGGAGCCTGTCCCTGCCACACCCACCATGTGCCCTTCTTTTTGAGATGTCATACTACTACCTTTTTTTTCTCATTGTAGTTGTTTTTAAATTTTTCATCATTGCTACCCAGTAGCACCTTTCCCATTTTCGTTGTCCAGTAAGAGACATTGTAAATGATAGTAAATTAAAGATAGAAAACAAGGAAAAGCTGGGCCATATCTTTTGTTTGACCCAGGCAACATGTCACAAAGTTCAGACAAACAGTCTCCCATCTGAAGCCAGTATTTTCACAAGCACCTGCTGTGTCATGAATTTGACAGAAATGCAAACCCACTTTATCTTCCTGCTTGCACATCTAGGCCACAGCCTTGCTTCCCTATCTGGTGTCTTGAACTCCATGCTGAATATTCTGATGTTCATGTTTTCCTCCTTGACTCTTCTATCCTCTCTGTGACTCAGCAACCACTGACATCTGCATCCTGTAGGAAAGAGCCCCTGTTCTTAAGCAATCCCAGTGCCTTCAAATATCCCTATAAGGCCTTACTTCTTTCAGGATCATTTTGATTTTCCACATAACTTGTTTTGACCATACCAAAAAGATTGAATGGAAAGTGAATTCTTAAACAATGTACTGCTTCACCTCAAGTATGTAGCCCTAGACTATAAACACATGAGGTTGCTTCAGTGTCCATGCGTGAATATGGATACGAAGAAGGAAAGAACAGTGGACACATTCACTAATTGTCTATAGTTATACAGAAAACAGAGGTGCTGCTAGTTTACCTCTGAATAGAGCCTCACTGTCAGAGGACCTGTTTGCTTATCTCTCTGCCAATGTTTTCTTTTTCAAAATTTTAGTTGACTGATGGTATCTGCTAACCTAGAATCAATCCCTGCTATATGACTATCATGCCAGACCCTTCTCTTTATCTTAACTCCCCACATCTCATCCCTAAATCATTGTGCTTTACCTCCTCAATCTGTTTTTCAAACTTGTGTTTTGCTCTCCATCTGTATATTTCTAGCATAGT
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AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTAAAGAAGTCTAAGGGTCAGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGACAGAGGCAGGTGGACCACTTGAGGTCAGGAGATTGAGAGTAGCCTGGCCAACATGATGAAACCCTGACTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTTCTTGGAAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGTCACCGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAAGGATAAGAAATATCAATGGTTCAGATGATGAATTTACATATATGTGCTTGATAATTTTTTCAAAATTTTTACCTGAGCTTTATTGAGGTATAATCGACAAATATTATCTTAGGTGTACAACATGATGTTTTGATATATGTGCACATTGTGAAATGATTAACACAGTCAAGCTAATTAACATATCTACCACCTCACATAGTTACCTTCTTTGTGTGTATGCCTGATAATTTAATTTTAAAAAATCAATTTGTATTCTATTCTAGAGAAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATATTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGGGTAAGTTTGGGCATACTAAAACCCTGTATTTAGGAAATGAGAAAACAAATTAGGACTTAAGGTGAGATTGTTAGTTTCATGACTGGTATTCACAGCTAGTAGCAATTAAAACAATCCCTCTCCTCAAAGACCCTTCATCATGAGCTCATCACAGTTAAATTTAGTAAAATGGGGGCAAGAAAGGAAGATTTCTTAAACCACCAGAATTCTCTAAATTCTGATTTCAGTAAATATGTGATTCAATATAAAATTTTAAATGTGATTAATAAAAAAATTTGAGATGATGATACTTGCAGAAATCTTCAAATGTTAAATACTAAACCAATCTTTAGTTGACCTAAATAATGAATTTGCATGAGTTTTTCTATATGCAAACAAGCTGTTACAAAACAGCATGAGTTAAAGACATTCCTAGTGTGAAAGTATTCTAAGTTCTTTGATAAGTTCTCTGTATAGGGAGAAGGAACTCATTCATTGAGTACCATCAATGTCTCAGACACTGTTGAAAACTTTACATTTATTTTCTCATTTCATATCTGTAAATTAAATAATTCTATTTTACTCTGTGTGTGTCCCTATTCTTTATAAAGTAAAAATATCAGTATCACTTGTCTCCTATACGAAACACAGATATTGGTTAGGTCATGAACACAAAATCTGGGAAGTACTTTGAACCCTTTAAATATAAGTACATTCTATTATTCTGTGAAGCCCATATTTAGAACTCAGAGGTATAAAATGTTCAATCATCTATGTCATTTAAAAATGTTTAAAACACTTTTATGCTTTCTAACATATTCCCCATGCAAATAAAAAATGTACATGTCTTATCTGTTTTTACTCTTTGGATGTCACGTTTTTAAACTTAATTTTTCTTTTCCTTTAAACTACTGTGTGGACTTTTATCAACTACTGTTTTATATTCACCTAATTGTGTAGTAAATATTTTAAGATAATAACCTGGAGAATTTGAGGAAAGTCAAATATGTGTGAATGTAACAAACTCTTTTTTCTTCCCCTGTTGCTTTAGGTACAAATTATTTGGCTTGACTTCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGCAGAGGTAAGAGTTAAAAAATCTAAGCACTCAGATTGTGAGGCTGAGTACTCAATGATAAATTAATTTCTGCCCCTTAAGAATATTAGCACAGTGTGTATTTGTAGCAAACCCACCTTTCAATATATGAGTGCTTTGCTAATTTTAAGACCTTTTCTAGTGATGTTCCTTCATTTAGCAGCTGTGAAGATAAACCAGCAAGTTTTCTGAGTCCCAATTCCCAAATTGTAGAATGAGGATTAAAAACAAACTTAGGTTTGTATTGCACTTGGTCATTTATTGTCTAACCATTACTTCTAAAGTCAAGTATGATAGGTGAAAGATTTCCGCCCCACAATTTTGTGTAAGAAAATAGTGTCAATCAGAGGGTCTGTAAGACTTGACCCCATATCCTAAAACAAGTGGCAATGGAAGGCATTTAACCAGGTCTCTTATTTCAAACCCAGCATTTTTCTAAAATCCAGTGTTGCCTACATGCTGCTTCTTAGGATTAAAATAATTAACCGAGATAATTATCTAGAGGGGTTTTAAGGTGTGATATATTCTTATCATTAGAGAGATAAGCTTATACCGTCAAGAAGAAATACTGTGTCTGTATTTGAGAATCTTCTCAAAGAAAGATATGGTGCAGAAATAATATTATAAATGGATATATATCCAGTCAAATTTATGTCAATTAGAGACACATGTCTCTTGGAAATTGAGAGGAATAAAATACATGCAACATTTTAAAATGTAGGCTTGCTTTCTTTCCATCCTTCTCTCTCTCCACACACAATGTGCCCTCCTGCAAATGACTTCTGAAGGCCCTATTGTCAAAATTATTGATAAGTTAAAGTTTTTGTATGTTACTAGGGGAAGAAAACTAGAGTAGATTTAGTGTAATTTATCAAGCATTTATCGATTGACACTCTGGTAGGCAACGTGTACGGTCAACTGACACGAAGACAAATAAAATGAAGCCGTGCCATTAAGGAGCCTGTCCCTGCCACACCCACCATGTGCCCTTCTTTTTGAGATGTCATACTACTACCTTTTTTTTCTCATTGTAGTTGTTTTTAAATTTTTCATCATTGCTACCCAGTAGCACCTTTCCCATTTTCGTTGTCCAGTAAGAGACATTGTAAATGATAGTAAATTAAAGATAGAAAACAAGGAAAAGCTGGGCCATATCTTTTGTTTGACCCAGGCAACATGTCACAAAGTTCAGACAAACAGTCTCCCATCTGAAGCCAGTATTTTCACAAGCACCTGCTGTGTCATGAATTTGACAGAAATGCAAACCCACTTTATCTTCCTGCTTGCACATCTAGGCCACAGCCTTGCTTCCCTATCTGGTGTCTTGAACTCCATGCTGAATATTCTGATGTTCATGTTTTCCTCCTTGACTCTTCTATCCTCTCTGTGACTCAGCAACCACTGACATCTGCATCCTGTAGGAAAGAGCCCCTGTTCTTAAGCAATCCCAGTGCCTTCAAATATCCCTATAAGGCCTTACTTCTTTCAGGATCATTTTGATTTTCCACATAACTTGTTTTGACCATACCAAAAAGATTGAATGGAAAGTGAATTCTTAAACAATGTACTGCTTCACCTCAAGTATGTAGCCCTAGACTATAAACACATGAGGTTGCTTCAGTGTCCATGCGTGAATATGGATACGAAGAAGGAAAGAACAGTGGACACATTCACTAATTGTCTATAGTTATACAGAAAACAGAGGTGCTGCTAGTTTACCTCTGAATAGAGCCTCACTGTCAGAGGACCTGTTTGCTTATCTCTCTGCCAATGTTTTCTTTTTCAAAATTTTAGTTGACTGATGGTATCTGCTAACCTAGAATCAATCCCTGCTATATGACTATCATGCCAGACCCTTCTCTTTATCTTAACTCCCCACATCTCATCCCTAAATCATTGTGCTTTACCTCCTCAATCTGTTTTTCAAACTTGTGTTTTGCTCTCCATCTGTATATTTCTAGCATAGT
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Task1_train_2543
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A change on Chromosome 1 affects gene CD55 (CD55 molecule (Cromer blood group)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Protein-losing enteropathy
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CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAAGGCAGCCATGGTCTACCTACTGCTTGACACTCAGGTCTTGCCTTCATGTTTTATGCCTTATACATGCAAACTGCTGTGGTTTCCATGTACCTCTTTTTTTTCTTTTTTTTAAATTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTTGGCCCAAGTGATCCTCCCACCTCAGCCTCCCTTGTAGCTGGGACTATAGGTGCACACCACCATGCCCAGCTAATTTATGTATTTTTTGCATAGACAGGGCTTCCTCATGTTGTCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCATGCCCCGCTGCCCCTTCTTTACTTAGCTATATTTTCCTTACTAAGAGTTAGTTCCCTAGCCCATCAGAAAGATTCCCAGGCTGGCTACTTCGGGATGACCCTTGCATTTTTTATTGAAATCATTTCTGAATCTTTTTTCCCACTAGCTTTTAAGACATAGGAACTATATCTTGTTCAGCTTTGCGCTTCCAATTATAAAAAAATGCCTGGCGTGTGTTAGGCACTCAGAAAATGTTTGAACTGAACCAATGGTGTGTGTGTCTCTGCACACTCTAAGTTAGTGTAAATCAGAACAGCTTGTTGTTGCTGCTTGTTTTGATCCAAGACCAAAGAGTGATTGATAAATGTGCTAAGTATTTTCTGTGTTCTTAAGTATGTTTGGTGTAACATAATTTGGCATACACACATATTAAATTGCCTTCATTCTTAAAAAAAAAAAAAAGGACAACAACATCATGCCTTTAGATTATGTGGAACCATTGAATTTTTTCTCAGGGTAACTGCCAGGGAGTGGTCCCTTTTTACAGTATAACTAAAAAAACTTCTGCTTGTATTTATTTTGTAAGTTCAGCTGCTCAGTAAGATTGTTTTGAGTGAAGTCTCTGTGAGTCCATATGTGCTAAAAATTTTTACTCTAGAAGTCAAAATGTAATCCTGACATTTAAGATCTCTGCTGTATCCAAAATGATCTATACTTAACTCTTAAACATGCTGCTTGAATTTTCAACTCCTTGCATTTGCTAGCGTTTCCCTCTTAGAGTGAAGAGCAACGCTTTCTCCGCTGTTCTCTCTCAAAAGCATGGTACATATTAGGTTTAAACTCAAGTTCTATTTCCCTGCCCAAGTCTTCTCTGACTACACTGCTTTCATCTCTAAAATCCTGCAGCATTCACTTTTCCTAGCACCGTTTTGATATGCACACATCTTACTATAATTTTTCTTTTACATACATGTTCTGAATCTTATTATTTCTATGAATTGGTCTCAAGGTTAGCATTTGTCTTCTACACCATTTGCATTCAAAGCTCCCACATACTACCAATTACTTAATAGGCATTTATAAGCATCTCTTGTTGGTAATGCTGAATTTAGAAAAATGATATTTTGATTTCTTTAAAATATAATCTTTAACATGTTTTGATCTTATTTGTAAAAATACTTTACTAGTTTTATTTATTTAAAAGATGTTGGAATTGTTTTTTAAGAAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGTGACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATTGGAGAGCACTCTATTTATTGTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCACCTGAATGCAGAGGTAATCACTTTGGATAGTTATATTTTTGCTTTATTCTTACCCTCAGGTCTATATGTGGGTTGCAGACATTCAATGAACCCCCTAAGAAAAAAATGTAAAATGTTTACATATACATATTTGTATTTTTCTGTGGGACACAATTTTTCTACAGCTTCTCAGAAGGGTCTATGGCTTGTATACACACACACACACACATACTCACACATATTATGATGTGTATATATAAAATAGGCCTCATATTTTTGGCAAATTTGCTTACATTTGCTGTTTTATACCATGTTGCTTTCAGTAAGTTAATATAGGTACTTTGTTTATACAAAGAGATATAAAGTGGTTTATTGGAGGGAGAATCTTAGATTGAAGGCTCTAGATAGTGATCATACCTGTTGCAACAACTGGGAAACTCTTGCCATCTGTTGACTTCACTGAATTAACATTCAATTCTTTTCTGCCTCCAGAATTTCTATTATTATCCATTCTCCTTCATCCTTCTAGACGTTTTTCTTTCAATGTCTTTTTATACCCAGAAGGTACTCTCAGAATCCTTCGAACTGCTTTTTAAATATATTTTAAAAGAAATATTTAGAAGATCAGTGAAGCTGGACTAAACATTGCCTAGTATCAATAGGTGGCGTTTAAGTAGTGGTGAATACCAACATGACTCAAGCATTTGAGTATTTACTTTTATAATTATAATTGAAATTTTATTAGTATGAATTTTAAAAATTCCTTATTAAAATAGATTTTTATTATAAGTGTTATACATAGACATAATGACATAATATTAAAGCCAGGGAGATGAGTACAAAATGGGAAGTGAAAGTCTCTTCTCTATCACTAGTCCTACTCGGAGAGGTAACAATTTTTTACAAATTCTTTTGTTTTATTCTAGAATATAAATAAACATACAAATATTTTTTATTTATTATATCAATGGTGTGGGTATTCATTTATCTAACCAGTCCTCTATTGATGACAATTTAGGTTTTTTGTTCTAGTTTGATTTTTTTTATGAACTATTATTACAAATGATGCTATAATATTCTTGTACATCTGTCACTGCACATATATGCAAGTACATTTGTACAATAAATTCCTTGTAGTATAATTATTTATAACAAAGGTATGTGAATTACATTTTTCATGCCCATTAGTAGCACTGCTTTTTAAAAGACTGTACCAATTTAGTCTCCCACTGATACAACATCATTGTGGTGTTTGCACCTTTAATGATAATGATTGTTAGGGAGATTTGACAATGTAAATGGTAAAAATTTGTATTATTTGAATTCATTTAATTATGAAGTTTAGTGTGTGTGCTTTTTTAATTTGGCCATTTGATCCAGTTCATATTTATTTTTCCAAGTTTTATTAAATGATCAGTTATTTAGAGCTTAAAAAACCATATGGAAGTACCCAAGTAGGTCATGGCAGGCTGATGCTTCCATTAAAACGACTATAAAATCTCAATAGATTACCAAAAAATTATATTTTTTAAGGCATAAGATACAGCTGTGGAAGCAACAAGGTCTGAATGAACTAAAATTCCTGGGGGCAGGTGGTGAAGGCAACCCATCCTGATGTAAGGCAGTTTTCCCTAGGGACCTTTGCTGATTCTGAACCTGGACTAAGGATTCACCTTGACCCAGACAAAAGACCACTTCTAGGAAAGAGAAACCAGCAAAGCTTTAATGGTTATGGAGGGATAGGGTAATACACTGGAAATTGAGGCCCTCAAATGCAGAACCAATTTTTCCTAAAGGCCATTTGCAAATTTTGGGGCTGCATGTGAGGCTGGGAAGGTTGACCCAGAGCTTCTAAAGTACAAAATGAAATCTCTCAGAACCTGATGGTATTTGGATAGCATATACCCACCAGAGGAACAGGCTTTTATCTAGCATACCACAGGTCTCCCCTTTAGCACATCTGTGCTCATTTTGAAACTGTATAGGGAAGGACATTAGGTGGCTGGGAGAACTCTGAAGGACAGACCT
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CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAAGGCAGCCATGGTCTACCTACTGCTTGACACTCAGGTCTTGCCTTCATGTTTTATGCCTTATACATGCAAACTGCTGTGGTTTCCATGTACCTCTTTTTTTTCTTTTTTTTAAATTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTTGGCCCAAGTGATCCTCCCACCTCAGCCTCCCTTGTAGCTGGGACTATAGGTGCACACCACCATGCCCAGCTAATTTATGTATTTTTTGCATAGACAGGGCTTCCTCATGTTGTCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCATGCCCCGCTGCCCCTTCTTTACTTAGCTATATTTTCCTTACTAAGAGTTAGTTCCCTAGCCCATCAGAAAGATTCCCAGGCTGGCTACTTCGGGATGACCCTTGCATTTTTTATTGAAATCATTTCTGAATCTTTTTTCCCACTAGCTTTTAAGACATAGGAACTATATCTTGTTCAGCTTTGCGCTTCCAATTATAAAAAAATGCCTGGCGTGTGTTAGGCACTCAGAAAATGTTTGAACTGAACCAATGGTGTGTGTGTCTCTGCACACTCTAAGTTAGTGTAAATCAGAACAGCTTGTTGTTGCTGCTTGTTTTGATCCAAGACCAAAGAGTGATTGATAAATGTGCTAAGTATTTTCTGTGTTCTTAAGTATGTTTGGTGTAACATAATTTGGCATACACACATATTAAATTGCCTTCATTCTTAAAAAAAAAAAAAAGGACAACAACATCATGCCTTTAGATTATGTGGAACCATTGAATTTTTTCTCAGGGTAACTGCCAGGGAGTGGTCCCTTTTTACAGTATAACTAAAAAAACTTCTGCTTGTATTTATTTTGTAAGTTCAGCTGCTCAGTAAGATTGTTTTGAGTGAAGTCTCTGTGAGTCCATATGTGCTAAAAATTTTTACTCTAGAAGTCAAAATGTAATCCTGACATTTAAGATCTCTGCTGTATCCAAAATGATCTATACTTAACTCTTAAACATGCTGCTTGAATTTTCAACTCCTTGCATTTGCTAGCGTTTCCCTCTTAGAGTGAAGAGCAACGCTTTCTCCGCTGTTCTCTCTCAAAAGCATGGTACATATTAGGTTTAAACTCAAGTTCTATTTCCCTGCCCAAGTCTTCTCTGACTACACTGCTTTCATCTCTAAAATCCTGCAGCATTCACTTTTCCTAGCACCGTTTTGATATGCACACATCTTACTATAATTTTTCTTTTACATACATGTTCTGAATCTTATTATTTCTATGAATTGGTCTCAAGGTTAGCATTTGTCTTCTACACCATTTGCATTCAAAGCTCCCACATACTACCAATTACTTAATAGGCATTTATAAGCATCTCTTGTTGGTAATGCTGAATTTAGAAAAATGATATTTTGATTTCTTTAAAATATAATCTTTAACATGTTTTGATCTTATTTGTAAAAATACTTTACTAGTTTTATTTATTTAAAAGATGTTGGAATTGTTTTTTAAGAAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGTGACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATTGGAGAGCACTCTATTTATTCTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCACCTGAATGCAGAGGTAATCACTTTGGATAGTTATATTTTTGCTTTATTCTTACCCTCAGGTCTATATGTGGGTTGCAGACATTCAATGAACCCCCTAAGAAAAAAATGTAAAATGTTTACATATACATATTTGTATTTTTCTGTGGGACACAATTTTTCTACAGCTTCTCAGAAGGGTCTATGGCTTGTATACACACACACACACACATACTCACACATATTATGATGTGTATATATAAAATAGGCCTCATATTTTTGGCAAATTTGCTTACATTTGCTGTTTTATACCATGTTGCTTTCAGTAAGTTAATATAGGTACTTTGTTTATACAAAGAGATATAAAGTGGTTTATTGGAGGGAGAATCTTAGATTGAAGGCTCTAGATAGTGATCATACCTGTTGCAACAACTGGGAAACTCTTGCCATCTGTTGACTTCACTGAATTAACATTCAATTCTTTTCTGCCTCCAGAATTTCTATTATTATCCATTCTCCTTCATCCTTCTAGACGTTTTTCTTTCAATGTCTTTTTATACCCAGAAGGTACTCTCAGAATCCTTCGAACTGCTTTTTAAATATATTTTAAAAGAAATATTTAGAAGATCAGTGAAGCTGGACTAAACATTGCCTAGTATCAATAGGTGGCGTTTAAGTAGTGGTGAATACCAACATGACTCAAGCATTTGAGTATTTACTTTTATAATTATAATTGAAATTTTATTAGTATGAATTTTAAAAATTCCTTATTAAAATAGATTTTTATTATAAGTGTTATACATAGACATAATGACATAATATTAAAGCCAGGGAGATGAGTACAAAATGGGAAGTGAAAGTCTCTTCTCTATCACTAGTCCTACTCGGAGAGGTAACAATTTTTTACAAATTCTTTTGTTTTATTCTAGAATATAAATAAACATACAAATATTTTTTATTTATTATATCAATGGTGTGGGTATTCATTTATCTAACCAGTCCTCTATTGATGACAATTTAGGTTTTTTGTTCTAGTTTGATTTTTTTTATGAACTATTATTACAAATGATGCTATAATATTCTTGTACATCTGTCACTGCACATATATGCAAGTACATTTGTACAATAAATTCCTTGTAGTATAATTATTTATAACAAAGGTATGTGAATTACATTTTTCATGCCCATTAGTAGCACTGCTTTTTAAAAGACTGTACCAATTTAGTCTCCCACTGATACAACATCATTGTGGTGTTTGCACCTTTAATGATAATGATTGTTAGGGAGATTTGACAATGTAAATGGTAAAAATTTGTATTATTTGAATTCATTTAATTATGAAGTTTAGTGTGTGTGCTTTTTTAATTTGGCCATTTGATCCAGTTCATATTTATTTTTCCAAGTTTTATTAAATGATCAGTTATTTAGAGCTTAAAAAACCATATGGAAGTACCCAAGTAGGTCATGGCAGGCTGATGCTTCCATTAAAACGACTATAAAATCTCAATAGATTACCAAAAAATTATATTTTTTAAGGCATAAGATACAGCTGTGGAAGCAACAAGGTCTGAATGAACTAAAATTCCTGGGGGCAGGTGGTGAAGGCAACCCATCCTGATGTAAGGCAGTTTTCCCTAGGGACCTTTGCTGATTCTGAACCTGGACTAAGGATTCACCTTGACCCAGACAAAAGACCACTTCTAGGAAAGAGAAACCAGCAAAGCTTTAATGGTTATGGAGGGATAGGGTAATACACTGGAAATTGAGGCCCTCAAATGCAGAACCAATTTTTCCTAAAGGCCATTTGCAAATTTTGGGGCTGCATGTGAGGCTGGGAAGGTTGACCCAGAGCTTCTAAAGTACAAAATGAAATCTCTCAGAACCTGATGGTATTTGGATAGCATATACCCACCAGAGGAACAGGCTTTTATCTAGCATACCACAGGTCTCCCCTTTAGCACATCTGTGCTCATTTTGAAACTGTATAGGGAAGGACATTAGGTGGCTGGGAGAACTCTGAAGGACAGACCT
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Task1_train_2544
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An alteration has been detected in LAMB3 (laminin subunit beta 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Junctional epidermolysis bullosa, non-Herlitz type
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CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACAT
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CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTGTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACAT
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Task1_train_2545
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Given this context: Chromosome 1, gene LAMB3 (laminin subunit beta 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Junctional epidermolysis bullosa
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CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACAC
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CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCGGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACAC
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Task1_train_2546
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The gene HSD11B1, HSD11B1-AS1 (hydroxysteroid 11-beta dehydrogenase 1| HSD11B1 antisense RNA 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cortisone reductase deficiency 2
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CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATCTTCTACAAAAATGAGAGTAATACCCAAATTCACAACTCAGCAGCTAATTGGGCTCTATGAAGAGACTGATAAGTGGGAGGCAAAAAAAAAAAAAAAAAAAACTGGAGATGATGACTACATAGAAGTGAGGGAAAATCCCTGGAATTTCTATGAACACATGTGTTTTGATTCCTTGTTAAATGTACTTTCAATTGAGCAAAATTGAAAGAGTCCAGAAATGTCTGGAACTCCAGCATTTTAGCTGAACCATGACTTTTCTGGCTTCATCCTATGATCTCTTTCCATGGAGGTTTTTAGAAATGACAGTAGGGAGGCTGTCAGCCCAAACCTCCCACTTCAGAGCATGTTTATGAAAGACCTGGCCTGTTCCCACAGTGATTTACGGAGTTTGTGACAAACTGATCTGGGCTCATAACCTTTAAGTTACAAATTGCGATAAGCATGCCTATATCCAGAGAGGGAGAAGGAATTTTGCTGCCAACTTGGGTATGGTCCTCACTTCCTTTTGGGGTTCCCCAGAGATGCTCCAAGGAAAGAAAGTGATTGTCACAGGGGCCAGCAAAGGGATCGGAAGAGAGATGGCTTATCATCTGGCGAAGATGGGAGCCCATGTGGTGGTGACAGCGAGGTCAAAAGAAACTCTACAGAAGGTGAGGGTTCTATGCTCGCAGATATGTGTACCGTCACATGCTCAGATGTGTTCTTATATATGCTCACATATACACAGAAGCTAGCATATCGCAGATCTATATACAGAGGCACATGCACACACACAGACACTTAATTTTGCACTCTCATATATAGATTCAAACACCAAAAAACCCACAGGAATATAAAAGTATGCATTTAAGCATTCATTCATGTGTGTGTGTGTAATATATTCTGCAACAGAGTCCTTGAGTTATATATGCTCACAGACATGCCTAGTCACACACATTTACACATGGAACTACAGATACATACGGATGTTTTCAAAAACTGAAATCCCAGTACCTGCTTATGAATACATATCCTCATACCCATGCAGACTCCCAGACACATGCCCTCTCATGGACTCACAAACCCAAGGATGTACAAACATTCACAAACCTAGAGCTACCCACATAGTAACCAGCATCTACACTCATAATGCCCTCAGAAATGCCTATTCACAGAAGCCATGAGCATAAATCATGAACTTAAACCCCAGCACTGGGATGATTTATCCATTTGAACCCCACCAAGTTCCAGAAAATATTTCAGACAGAGGACGATGATCATGAGGGTTATATTAGGCAACACACACACAAACATACTTACCATTTCTTACCTAAACAGGGCTGTGAGCAATCTCTCATTTAAGCCCCCCGTTACTTCAGAGACTACCCCCCAAAAATCTGCAGCTAAGACTGATGCCATTTCTGCTGTATCACTGCAGGTGGTATCCCACTGCCTGGAGCTTGGAGCAGCCTCAGCACACTACATTGCTGGCACCATGGAAGACATGACCTTCGCAGAGCAATTTGTTGCCCAAGCAGGAAAGCTCATGGGTGAGGCTGTTTCTCTTACCTCCTCCTCTGAACTTTGCCCTTGGGGTCACCAAGAGCTTTTGGGAGGAGAATGGGAAAGGTATCAACCCCAGATGATTTCTTAATATAGCCATCTCTTGCAGGAGGACTAGACATGCTCATTCTCAACCACATCACCAACACTTCTTTGAATCTTTTTCATGATGATATTCACCATGTGCGCAAAAGCATGGAAGTCAACTTCCTCAGTTACGTGGTCCTGACTGTAGCTGCCTTGCCCATGCTGAAGCAGAGCAATGGAAGCATTGTTGTCGTCTCCTCTCTGGCTGGTAAGTGGGACAGGGACATATGTGGAAGGTAGAAGAAAAAAAAAAATGCCAGGGATGATGCCAGGCTCTGAAGTAGACATAAATTTTTATCAGTTTCCATGCAGAGAAGTAATGAGGGATTGGTCAAGGTAAGTGGGCTACAAAATTCTTTTAAGTAACAGAGAAAAAGCAGTAGCTCTGAGTGCTCATTGGAAGACTGAATTGTTTTCTACAAAGTAAGGTCAAAGGGACTTGAGGGGCTGCTGGAGGTACAGCCTGTCCTGGTCCTAAGGGAGAGACCTAGTTACAATATTAACTTGAAGTTGAAATGTTCATAGTAATATTAAACAAAAGCTGATTAACAGCTTACTCATATGCATGAATGGGCAGATGTACTGATAAGAGACTTGTAGGGGGGTGATTTGTGGACTCAATGAGAGGCACGCATCCTGAGTAAAGGAGACACTGTTACAAACTAGTGACACCATAAAAAATGAAGGATTGGTCAAGGTAGATGGGCTACAAAATTCTTTTAAGTAGCAGAGAAAAAGCAGTAGTTCAGAGTGCCTATTGGAAGCCTGAATTGTTTTCTACAAAGGAAGGTTGAAGGGACTTGAGAGGCTGCTGGAGGTACAGCTTGTCCTGGTCCTAAGTGAGAGACCTAGTCACAATGGATAAAAAGGACTTTGCTTCCTCCATGACCAAAAGGTTGGTGAAGTTATGTAAATGTGAAGGTACAACTGAGAAGTTAACTGTTTTAACAACACACAGGTGTCTGATAAGTGGGCTAAGCTAAAGCTAAATAAAATGAACAACAAGAAAAAAAAAAAAGATGAACAGACCTGCCTATAGTGGGTGTATTCTCTAAAATTTGAACATGTTAACATGAAAAGATCAATTTAAACAACCAGCTGGGTAGGGAGGAAATGTGTCCAGAGAAATGGTCATGAAAAGATATCTGTGGGATCAAGAGAGGTCCCTGGTGTTCTGGATGGTGGTAGCATCAGAAGCCATCACCAGTAAAAAACCAGTGAGTTCCCAGCTTGGGACATTTCTAGGCCCATTTTTATCATAGATCCAGGAGACAAGTTCCACACATCTTTGTTGATTAGTCAGTTAGAAGGATGTGGCTGGAAAGTGCAAACACCAGGATCAAAATCCGCCATCTAAATGTTGTTCCTGGCAAAATAAAAACAAATAACCTAGAGGACTCTGTAAACTGTTAAGCACTTCACAAACATTCTTATTGAAACTAATAGCACCATCTGTATCGTAAAGAGTTCTCCTTTCTGGCCCAGGGACGGCCTGCATAGTGATTGGATAAAGGGGCAGTGTGTCTGTGCTACCCGCCAAACAGTGTGATTGATATGCATCCCGGTGCTTCCCAGACAACACACACTCCCCACCCCTCCCCAGACACAGACTCTCTCTGGGCTGGAAGAAAGGGAGAGCTTCCAGATGCATACTGAGTGGGAGGGTGCTGGGCACATCCCCAATCCATCCCAGGGCATTGGACAAAATCCTCACATCAGTCATGATGTAGGTGGCTTTAATGATTTCAGCTGATTAAATAATACATTCACTCTAGGCAAAGGATGTATTTCACCTTTGACGAATGTAACTTTCTAGAATGTACCCATGATCTAAATGTGCTCAGAAGGACTAAGAATTACTGTTGAGCCCAAGGACGTGATGAAATTCTGATAATCTCTGTTTCCCCATATCTCCTACACTTATTGAATGACACTTGGTAATTTCCATGAACTCTGGGAGGTAGGAAATCTAGCTGGATGAGTATCTTTGGTGTTTATTGCTTGTGTAGCCAAAAGATTCCAGCTTTTTTGCCTTGAAACCTGTCTATGAACTTGCAAAGTACAGACACATTGCTGTCTTGCCGCAACTGAAGAATATTCTCTGCTTTATGATGTATTCTTTTAATCAGTCAGTAAACATGTTCATT
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CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATCTTCTACAAAAATGAGAGTAATACCCAAATTCACAACTCAGCAGCTAATTGGGCTCTATGAAGAGACTGATAAGTGGGAGGCAAAAAAAAAAAAAAAAAAAACTGGAGATGATGACTACATAGAAGTGAGGGAAAATCCCTGGAATTTCTATGAACACATGTGTTTTGATTCCTTGTTAAATGTACTTTCAATTGAGCAAAATTGAAAGAGTCCAGAAATGTCTGGAACTCCAGCATTTTAGCTGAACCATGACTTTTCTGGCTTCATCCTATGATCTCTTTCCATGGAGGTTTTTAGAAATGACAGTAGGGAGGCTGTCAGCCCAAACCTCCCACTTCAGAGCATGTTTATGAAAGACCTGGCCTGTTCCCACAGTGATTTACGGAGTTTGTGACAAACTGATCTGGGCTCATAACCTTTAAGTTACAAATTGCGATAAGCATGCCTATATCCAGAGAGGGAGAAGGAATTTTGCTGCCAACTTGGGTATGGTCCTCACTTCCTTTTGGGGTTCCCCAGAGATGCTCCAAGGAAAGAAAGTGATTGTCACAGGGGCCAGCAAAGGGATCGGAAGAGAGATGGCTTATCATCTGGCGAAGATGGGAGCCCATGTGGTGGTGACAGCGAGGTCAAAAGAAACTCTACAGAAGGTGAGGGTTCTATGCTCGCAGATATGTGTACCGTCACATGCTCAGATGTGTTCTTATATATGCTCACATATACACAGAAGCTAGCATATCGCAGATCTATATACAGAGGCACATGCACACACACAGACACTTAATTTTGCACTCTCATATATAGATTCAAACACCAAAAAACCCACAGGAATATAAAAGTATGCATTTAAGCATTCATTCATGTGTGTGTGTGTAATATATTCTGCAACAGAGTCCTTGAGTTATATATGCTCACAGACATGCCTAGTCACACACATTTACACATGGAACTACAGATACATACGGATGTTTTCAAAAACTGAAATCCCAGTACCTGCTTATGAATACATATCCTCATACCCATGCAGACTCCCAGACACATGCCCTCTCATGGACTCACAAACCCAAGGATGTACAAACATTCACAAACCTAGAGCTACCCACATAGTAACCAGCATCTACACTCATAATGCCCTCAGAAATGCCTATTCACAGAAGCCATGAGCATAAATCATGAACTTAAACCCCAGCACTGGGATGATTTATCCATTTGAACCCCACCAAGTTCCAGAAAATATTTCAGACAGAGGACGATGATCATGAGGGTTATATTAGGCAACACACACACAAACATACTTACCATTTCTTACCTAAACAGGGCTGTGAGCAATCTCTCATTTAAGCCCCCCGTTACTTCAGAGACTACCCCCCAAAAATCTGCAGCTAAGACTGATGCCATTTCTGCTGTATCACTGCAGGTGGTATCCCACTGCCTGGAGCTTGGAGCAGCCTCAGCACACTACATTGCTGGCACCATGGAAGACATGACCTTCGCAGAGCAATTTGTTGCCCAAGCAGGAAAGCTCATGGGTGAGGCTGTTTCTCTTACCTCCTCCTCTGAACTTTGCCCTTGGGGTCACCAAGAGCTTTTGGGAGGAGAATGGGAAAGGTATCAACCCCAGATGATTTCTTAATATAGCCATCTCTTGCAGGAGGACTAGACATGCTCATTCTCAACCACATCACCAACACTTCTTTGAATCTTTTTCATGATGATATTCACCATGTGTGCAAAAGCATGGAAGTCAACTTCCTCAGTTACGTGGTCCTGACTGTAGCTGCCTTGCCCATGCTGAAGCAGAGCAATGGAAGCATTGTTGTCGTCTCCTCTCTGGCTGGTAAGTGGGACAGGGACATATGTGGAAGGTAGAAGAAAAAAAAAAATGCCAGGGATGATGCCAGGCTCTGAAGTAGACATAAATTTTTATCAGTTTCCATGCAGAGAAGTAATGAGGGATTGGTCAAGGTAAGTGGGCTACAAAATTCTTTTAAGTAACAGAGAAAAAGCAGTAGCTCTGAGTGCTCATTGGAAGACTGAATTGTTTTCTACAAAGTAAGGTCAAAGGGACTTGAGGGGCTGCTGGAGGTACAGCCTGTCCTGGTCCTAAGGGAGAGACCTAGTTACAATATTAACTTGAAGTTGAAATGTTCATAGTAATATTAAACAAAAGCTGATTAACAGCTTACTCATATGCATGAATGGGCAGATGTACTGATAAGAGACTTGTAGGGGGGTGATTTGTGGACTCAATGAGAGGCACGCATCCTGAGTAAAGGAGACACTGTTACAAACTAGTGACACCATAAAAAATGAAGGATTGGTCAAGGTAGATGGGCTACAAAATTCTTTTAAGTAGCAGAGAAAAAGCAGTAGTTCAGAGTGCCTATTGGAAGCCTGAATTGTTTTCTACAAAGGAAGGTTGAAGGGACTTGAGAGGCTGCTGGAGGTACAGCTTGTCCTGGTCCTAAGTGAGAGACCTAGTCACAATGGATAAAAAGGACTTTGCTTCCTCCATGACCAAAAGGTTGGTGAAGTTATGTAAATGTGAAGGTACAACTGAGAAGTTAACTGTTTTAACAACACACAGGTGTCTGATAAGTGGGCTAAGCTAAAGCTAAATAAAATGAACAACAAGAAAAAAAAAAAAGATGAACAGACCTGCCTATAGTGGGTGTATTCTCTAAAATTTGAACATGTTAACATGAAAAGATCAATTTAAACAACCAGCTGGGTAGGGAGGAAATGTGTCCAGAGAAATGGTCATGAAAAGATATCTGTGGGATCAAGAGAGGTCCCTGGTGTTCTGGATGGTGGTAGCATCAGAAGCCATCACCAGTAAAAAACCAGTGAGTTCCCAGCTTGGGACATTTCTAGGCCCATTTTTATCATAGATCCAGGAGACAAGTTCCACACATCTTTGTTGATTAGTCAGTTAGAAGGATGTGGCTGGAAAGTGCAAACACCAGGATCAAAATCCGCCATCTAAATGTTGTTCCTGGCAAAATAAAAACAAATAACCTAGAGGACTCTGTAAACTGTTAAGCACTTCACAAACATTCTTATTGAAACTAATAGCACCATCTGTATCGTAAAGAGTTCTCCTTTCTGGCCCAGGGACGGCCTGCATAGTGATTGGATAAAGGGGCAGTGTGTCTGTGCTACCCGCCAAACAGTGTGATTGATATGCATCCCGGTGCTTCCCAGACAACACACACTCCCCACCCCTCCCCAGACACAGACTCTCTCTGGGCTGGAAGAAAGGGAGAGCTTCCAGATGCATACTGAGTGGGAGGGTGCTGGGCACATCCCCAATCCATCCCAGGGCATTGGACAAAATCCTCACATCAGTCATGATGTAGGTGGCTTTAATGATTTCAGCTGATTAAATAATACATTCACTCTAGGCAAAGGATGTATTTCACCTTTGACGAATGTAACTTTCTAGAATGTACCCATGATCTAAATGTGCTCAGAAGGACTAAGAATTACTGTTGAGCCCAAGGACGTGATGAAATTCTGATAATCTCTGTTTCCCCATATCTCCTACACTTATTGAATGACACTTGGTAATTTCCATGAACTCTGGGAGGTAGGAAATCTAGCTGGATGAGTATCTTTGGTGTTTATTGCTTGTGTAGCCAAAAGATTCCAGCTTTTTTGCCTTGAAACCTGTCTATGAACTTGCAAAGTACAGACACATTGCTGTCTTGCCGCAACTGAAGAATATTCTCTGCTTTATGATGTATTCTTTTAATCAGTCAGTAAACATGTTCATT
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Task1_train_2547
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Gene HSD11B1, HSD11B1-AS1 (hydroxysteroid 11-beta dehydrogenase 1| HSD11B1 antisense RNA 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cortisone reductase deficiency 2
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CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTTCTTCATTGGTTTGACATACAACATATTATATTTGAAACATATAGAAATTCCAATTCCGATAACTGCAAGAGTGGCACCCGAAAGACCATCCTTCCCCAGATTACAACTATAAGCTTTTGACAAAATATCGACGACAACCATTGAAAGCACTGGAGATTAACCAAGAGCAGATAGAAAATGGAGGGTTATTGACACTTGGAAGAAGGAAATGACAGTAGGCGAGTTTCTCAATTGTATAGCTTTAGGCCTAAGGGCAACCCCAATCAGTGCCATATCTGGGATAGAAACCTGCCATCTTGCCAACATGAATAGCTAGAAGGAAGAGGTTGGGGTTACCGTAATAGCTGGAATGCAAAGGGGTTATGCTGGAAAGGAGAGTCACAGTGGAGAAACACTGAATCCTATACATAAGCTCTGTCCAAATCTCTAGTTGTTCTCTGAACAATGCATGGGCAATGCAGAAACCAAGCAGCCAAGTTAAGATTCAAATAATTGAACAGAGATTGCAGCTGATACTTATTACAAGAGACAGAGTTTCACCCAAGTTAACTGGCCACTTAAAAAAAAAAATCAACACTCTTTGGAGGAATGTGACAGAATCCAGGTACCCTGCAATGTATCATTCACGATATCCAGGATACAATACAAAATTAACACCCATACAAGAATAGTAAATATGACCCATACTTAGGAGGAAAGGAAATCAATAAAGATCAATCTTAAAATTACCCAAATTCTGGAATTAGCAGACAATGGATTTTAAAGTAGTTGCTATAACAATGCTCGGTAAAGACTATAGGGTCTCAGGTCACTTCTACTCTCCCCTCCTAAAAAGGGTATTAATAATAGTTTATCCTATTAGGCATATGTCCACATATCCTCCAAACAACTTGAGTGAGAATTAACCAGTCTGGTGAACATTTTTTTTAAAAAGCGGCTTTGGGTAGAAAAGCAAAGACAGGATTCTGTTTTTTGTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGCAGTGCGGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCCAAATTCAAGCGATTCACCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCATGTGCCCAGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGTCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCACACCTGGCCAGGACAGGCAGTTTTTTAATACCTTTGTAAGGAAAGTAAAACATACCCTTTCCATTGCCAACAGGTCACCAAGTTGGCAGAGATAACTAGTCAAACTCTTGGATCCCCAGCACTTGGTTCAGAGATGCAAGAGTTAGCAGCTGTGGAATTACATGGCTCTTTTGTAGCCCAGCTTGTTTATCACCCTTACTAAAAGCTTAAACAGTCCCTCTTCAATGAAGGCTGTCCTGCAGCCCAATCCCACCCTATGCCTTCGATACCTTAATGTTTTCAAAATTCAACACAGCAGTATAACTTCCATGGGGAATATAGAGAAACTAAGACTCAAAGGGGTAAAAGGACACCATAGGAGTTACAAAGCCTACTACAGCTCTGTAAGAAGGTGAAATGGGCAGCCTTATTAACCCATTTCTTTAATCTGTCATTTAGGGAAAGTGGCTTATCCAATGGTTGCTGCCTATTCTGCAAGCAAGTTTGCTTTGGATGGGTTCTTCTCCTCCATCAGAAAGGAATATTCAGTGTCCAGGGTCAATGTATCAATCACTCTCTGTGTTCTTGGCCTCATAGACACAGGTAAGGTCAATACTTTGTGTTTTTTTTTAATTATTATACTTTAAGTTCTAGGGTACATGTGCAGAACATGCAGGTTTGTTACATATGTATGCATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCACTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCTTCCCCCCACCCAACAGGCCCAGTGTGTGATGTCCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGATGTTTGGTTTTTTAATACTCTGAATAATGACCTGCAGATGAACTGTCTGCCTTACCATTGTGGATAAACAAGGGTGCTGAACTCCCTGACCTCATGTGTAATGCACTAAAAACAAACCAGTGCAGAAAGCACTAGCTCTCTCATTTAAAGGCATTTCTGTCACTAGTGGAGGCTCTGGCTACTCTTTGACTCTCCTTTCCATTTTGATTACCAAGGTGGCTGAGTCTCACCACATTCATCACTTAACCCTTTGCTGAACACCTTATGTCCTCATGGACACTCAATGGCCATTACGTTTCTATATGAGACTTATCAAAATACAAGTTTGTGTTTCTTAAAAGCAGCACCAGTAATAAGACACACTGGTATCATGAACTCTTTGATGTGATGTTCTGAGAAGAACACAACATCATTTTGGTGGTGTTCTTGCCAAAATACATGACCCCACTCCAATCATAAGAGAACAATGAACAAAACCAAATCAAGGAACATTTTATAAAACATTTGGTCAGTATTCTTCAAAAGTGTCAAGGCCATCAGAGACAAGGAAAGGCTGAAGAACTGTCACAGATTGGAAGAAAAATGGGAAGAAATTACTACTAAGTGGAATCCTGGATAAGATCCAGGAACATAAAAAGAACATTAGTGAAAAAATAAGGTCTGTAGTTTAGTTAATATATTGTATCAATTCTATTATTATACCTGTCCTAAATCATTGCACAATGGTTATATATGGTGTTGCAACCAGGGGGAGCAGGTGTGGAATATAAGGGGGTACGGCCTACAATTTTTACAACTTTTCTGTTAAGTCCAAATACAAGTTTATCTAAAACATGTGGCAGATATTAAAAGAAAATGCTCTTTGAAGAGTAATTGAGCAACAGTTAGAGAAATAGAGAGAGAGACCGAGACCCAGGGGGAAACAAGAAAGGAATGGAGAGAGAGAGAGAAGTTGTGCAAGATGGACATGAAAACTTGGAAGGGGAGAGAAGTGAAAGTGGTGACAAGGGAGCAAAAGCCTGTATTCTTGTGTATCTCTTCCTTTTACAAGACAGTAAGTCATTATCATACAGCACTCTGGTTTTTCCCACTGGCACTTCCCATTAGCTACTGAGTCATTATGAGACTTCTATCCTCATTCTGCTCCCCCATATTACTTCTCCGCCTCCAACCAAAATACCCAAGAGAGAAGCATGATTCAGATCTCCCAAGTAATCACCTCTAACTGCTCCCACCAATCTCCATCCAGGAAGGCAAGGCCCCTATTAACACTAAGGCCTCTCTTTGCCCAACAGACTCTAACATACCCAGTCTCTCCATGTATTCCCTATAGTGCCTGTGAGGCTTGCAGAGCAAACACTGCCAAAAGCCCCTGACAGCTAAGTGGTTGATGTCTCCAGGCCTTCCATCATGTAGACTGTCCTAGTCAGATAACCCTACTCTTCCCTTGTCATTCTATAGAAACAGCCATGAAGGCAGTTTCTGGGATAGTCCATATGCAAGCAGCTCCAAAGGAGGAATGTGCCCTGGAGATCATCAAAGGGGGAGCTCTGCGCCAAGAAGAAGTGTATTATGACAGCTCACTCTGGACCACTCTTCTGATCAGAAATCCATGCAGGAAGATCCTGGAATTTCTCTACTCAACGAGCTATAATATGGACAGATTCATAAACAAGTAGGAACT
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CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTTCTTCATTGGTTTGACATACAACATATTATATTTGAAACATATAGAAATTCCAATTCCGATAACTGCAAGAGTGGCACCCGAAAGACCATCCTTCCCCAGATTACAACTATAAGCTTTTGACAAAATATCGACGACAACCATTGAAAGCACTGGAGATTAACCAAGAGCAGATAGAAAATGGAGGGTTATTGACACTTGGAAGAAGGAAATGACAGTAGGCGAGTTTCTCAATTGTATAGCTTTAGGCCTAAGGGCAACCCCAATCAGTGCCATATCTGGGATAGAAACCTGCCATCTTGCCAACATGAATAGCTAGAAGGAAGAGGTTGGGGTTACCGTAATAGCTGGAATGCAAAGGGGTTATGCTGGAAAGGAGAGTCACAGTGGAGAAACACTGAATCCTATACATAAGCTCTGTCCAAATCTCTAGTTGTTCTCTGAACAATGCATGGGCAATGCAGAAACCAAGCAGCCAAGTTAAGATTCAAATAATTGAACAGAGATTGCAGCTGATACTTATTACAAGAGACAGAGTTTCACCCAAGTTAACTGGCCACTTAAAAAAAAAAATCAACACTCTTTGGAGGAATGTGACAGAATCCAGGTACCCTGCAATGTATCATTCACGATATCCAGGATACAATACAAAATTAACACCCATACAAGAATAGTAAATATGACCCATACTTAGGAGGAAAGGAAATCAATAAAGATCAATCTTAAAATTACCCAAATTCTGGAATTAGCAGACAATGGATTTTAAAGTAGTTGCTATAACAATGCTCGGTAAAGACTATAGGGTCTCAGGTCACTTCTACTCTCCCCTCCTAAAAAGGGTATTAATAATAGTTTATCCTATTAGGCATATGTCCACATATCCTCCAAACAACTTGAGTGAGAATTAACCAGTCTGGTGAACATTTTTTTTAAAAAGCGGCTTTGGGTAGAAAAGCAAAGACAGGATTCTGTTTTTTGTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGCAGTGCGGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCCAAATTCAAGCGATTCACCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCATGTGCCCAGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGTCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCACACCTGGCCAGGACAGGCAGTTTTTTAATACCTTTGTAAGGAAAGTAAAACATACCCTTTCCATTGCCAACAGGTCACCAAGTTGGCAGAGATAACTAGTCAAACTCTTGGATCCCCAGCACTTGGTTCAGAGATGCAAGAGTTAGCAGCTGTGGAATTACATGGCTCTTTTGTAGCCCAGCTTGTTTATCACCCTTACTAAAAGCTTAAACAGTCCCTCTTCAATGAAGGCTGTCCTGCAGCCCAATCCCACCCTATGCCTTCGATACCTTAATGTTTTCAAAATTCAACACAGCAGTATAACTTCCATGGGGAATATAGAGAAACTAAGACTCAAAGGGGTAAAAGGACACCATAGGAGTTACAAAGCCTACTACAGCTCTGTAAGAAGGTGAAATGGGCAGCCTTATTAACCCATTTCTTTAATCTGTCATTTAGGGAAAGTGGCTTATCCAATGGTTGCTGCCTATTCTGCAAGCAATTTTGCTTTGGATGGGTTCTTCTCCTCCATCAGAAAGGAATATTCAGTGTCCAGGGTCAATGTATCAATCACTCTCTGTGTTCTTGGCCTCATAGACACAGGTAAGGTCAATACTTTGTGTTTTTTTTTAATTATTATACTTTAAGTTCTAGGGTACATGTGCAGAACATGCAGGTTTGTTACATATGTATGCATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCACTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCTTCCCCCCACCCAACAGGCCCAGTGTGTGATGTCCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGATGTTTGGTTTTTTAATACTCTGAATAATGACCTGCAGATGAACTGTCTGCCTTACCATTGTGGATAAACAAGGGTGCTGAACTCCCTGACCTCATGTGTAATGCACTAAAAACAAACCAGTGCAGAAAGCACTAGCTCTCTCATTTAAAGGCATTTCTGTCACTAGTGGAGGCTCTGGCTACTCTTTGACTCTCCTTTCCATTTTGATTACCAAGGTGGCTGAGTCTCACCACATTCATCACTTAACCCTTTGCTGAACACCTTATGTCCTCATGGACACTCAATGGCCATTACGTTTCTATATGAGACTTATCAAAATACAAGTTTGTGTTTCTTAAAAGCAGCACCAGTAATAAGACACACTGGTATCATGAACTCTTTGATGTGATGTTCTGAGAAGAACACAACATCATTTTGGTGGTGTTCTTGCCAAAATACATGACCCCACTCCAATCATAAGAGAACAATGAACAAAACCAAATCAAGGAACATTTTATAAAACATTTGGTCAGTATTCTTCAAAAGTGTCAAGGCCATCAGAGACAAGGAAAGGCTGAAGAACTGTCACAGATTGGAAGAAAAATGGGAAGAAATTACTACTAAGTGGAATCCTGGATAAGATCCAGGAACATAAAAAGAACATTAGTGAAAAAATAAGGTCTGTAGTTTAGTTAATATATTGTATCAATTCTATTATTATACCTGTCCTAAATCATTGCACAATGGTTATATATGGTGTTGCAACCAGGGGGAGCAGGTGTGGAATATAAGGGGGTACGGCCTACAATTTTTACAACTTTTCTGTTAAGTCCAAATACAAGTTTATCTAAAACATGTGGCAGATATTAAAAGAAAATGCTCTTTGAAGAGTAATTGAGCAACAGTTAGAGAAATAGAGAGAGAGACCGAGACCCAGGGGGAAACAAGAAAGGAATGGAGAGAGAGAGAGAAGTTGTGCAAGATGGACATGAAAACTTGGAAGGGGAGAGAAGTGAAAGTGGTGACAAGGGAGCAAAAGCCTGTATTCTTGTGTATCTCTTCCTTTTACAAGACAGTAAGTCATTATCATACAGCACTCTGGTTTTTCCCACTGGCACTTCCCATTAGCTACTGAGTCATTATGAGACTTCTATCCTCATTCTGCTCCCCCATATTACTTCTCCGCCTCCAACCAAAATACCCAAGAGAGAAGCATGATTCAGATCTCCCAAGTAATCACCTCTAACTGCTCCCACCAATCTCCATCCAGGAAGGCAAGGCCCCTATTAACACTAAGGCCTCTCTTTGCCCAACAGACTCTAACATACCCAGTCTCTCCATGTATTCCCTATAGTGCCTGTGAGGCTTGCAGAGCAAACACTGCCAAAAGCCCCTGACAGCTAAGTGGTTGATGTCTCCAGGCCTTCCATCATGTAGACTGTCCTAGTCAGATAACCCTACTCTTCCCTTGTCATTCTATAGAAACAGCCATGAAGGCAGTTTCTGGGATAGTCCATATGCAAGCAGCTCCAAAGGAGGAATGTGCCCTGGAGATCATCAAAGGGGGAGCTCTGCGCCAAGAAGAAGTGTATTATGACAGCTCACTCTGGACCACTCTTCTGATCAGAAATCCATGCAGGAAGATCCTGGAATTTCTCTACTCAACGAGCTATAATATGGACAGATTCATAAACAAGTAGGAACT
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Task1_train_2548
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This alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Popliteal pterygium syndrome
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ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGG
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ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACGGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGG
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Task1_train_2549
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A variant was discovered on Chromosome 1, affecting IRF6 (interferon regulatory factor 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Popliteal pterygium syndrome
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GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCA
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GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTAAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCA
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Task1_train_2550
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Here is a variant affecting IRF6 (interferon regulatory factor 6) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Orofacial cleft 6, susceptibility to
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2551
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Assess the clinical impact of this variant on gene IRF6 (interferon regulatory factor 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal dominant popliteal pterygium syndrome
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2552
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Here’s a variant in IRF6 (interferon regulatory factor 6) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Van der Woude syndrome 1
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2553
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Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Popliteal pterygium syndrome
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2554
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This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Orofacial cleft 6, susceptibility to
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2555
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Located on Chromosome 1, this mutation impacts IRF6 (interferon regulatory factor 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Van der Woude syndrome
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
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Task1_train_2556
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This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Van der Woude syndrome 1
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TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAG
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TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCTGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAG
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Task1_train_2557
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The gene IRF6 (interferon regulatory factor 6) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Van der Woude syndrome 1
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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Task1_train_2558
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This sequence variant lies in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Orofacial cleft 6, susceptibility to
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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Task1_train_2559
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This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Popliteal pterygium syndrome
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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Task1_train_2560
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Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Van der Woude syndrome
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
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Task1_train_2561
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Given this variant in gene IRF6 (interferon regulatory factor 6) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Van der Woude syndrome 1
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CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTG
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CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGAAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTG
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Task1_train_2562
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Gene IRF6 (interferon regulatory factor 6) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Orofacial cleft 6, susceptibility to
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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Task1_train_2563
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This sequence variant lies in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Van der Woude syndrome
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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Task1_train_2564
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The following genetic variant occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Popliteal pterygium syndrome
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
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Task1_train_2565
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With a mutation on Chromosome 1 in gene IRF6 (interferon regulatory factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Orofacial cleft 6, susceptibility to
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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Task1_train_2566
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Located on Chromosome 1, this mutation impacts IRF6 (interferon regulatory factor 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Van der Woude syndrome
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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Task1_train_2567
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This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Popliteal pterygium syndrome
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
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Task1_train_2568
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This variant affects gene IRF6 (interferon regulatory factor 6) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Van der Woude syndrome 1
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TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
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TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTATCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
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Task1_train_2569
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Given this context: Chromosome 1, gene IRF6 (interferon regulatory factor 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Popliteal pterygium syndrome
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TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
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TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTATCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
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Task1_train_2570
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The gene IRF6 (interferon regulatory factor 6) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Van der Woude syndrome
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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Task1_train_2571
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Here is a genetic alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Orofacial cleft 6, susceptibility to
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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Task1_train_2572
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With a mutation on Chromosome 1 in gene IRF6 (interferon regulatory factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Popliteal pterygium syndrome
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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Task1_train_2573
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This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; IRF6-related condition
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
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Task1_train_2574
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A sequence alteration has been identified in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Orofacial cleft 6, susceptibility to
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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Task1_train_2575
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An alteration has been detected in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Popliteal pterygium syndrome
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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Task1_train_2576
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A mutation found in IRF6 (interferon regulatory factor 6) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Van der Woude syndrome
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
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Task1_train_2577
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This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Orofacial cleft 6, susceptibility to
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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Task1_train_2578
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Here is a genetic alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Van der Woude syndrome
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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Task1_train_2579
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Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Popliteal pterygium syndrome
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
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Task1_train_2580
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This mutation occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Popliteal pterygium syndrome
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGAGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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Task1_train_2581
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A genomic change on Chromosome 1 affects IRF6 (interferon regulatory factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Orofacial cleft 6, susceptibility to
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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Task1_train_2582
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A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Popliteal pterygium syndrome
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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Task1_train_2583
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Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Van der Woude syndrome
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
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Task1_train_2584
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This variant lies on Chromosome 1 and affects the gene IRF6 (interferon regulatory factor 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal dominant popliteal pterygium syndrome
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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Task1_train_2585
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This variant lies on Chromosome 1 and affects the gene IRF6 (interferon regulatory factor 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Orofacial cleft 6, susceptibility to
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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Task1_train_2586
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This genomic variant is located on Chromosome 1, within the IRF6 (interferon regulatory factor 6) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Popliteal pterygium syndrome
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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Task1_train_2587
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This mutation occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Van der Woude syndrome
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
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Task1_train_2588
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A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Van der Woude syndrome
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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Task1_train_2589
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A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Orofacial cleft 6, susceptibility to
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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Task1_train_2590
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This sequence change occurs on Chromosome 1, altering IRF6 (interferon regulatory factor 6). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Popliteal pterygium syndrome
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
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Task1_train_2591
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Gene IRF6 (interferon regulatory factor 6) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Van der Woude syndrome 1
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TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCA
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TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAGTCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCA
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Task1_train_2592
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Mutation context: Chromosome 1, Gene IRF6 (interferon regulatory factor 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Popliteal pterygium syndrome
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CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
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CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGGGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
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Task1_train_2593
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A variant has been detected on Chromosome 1 in IRF6 (interferon regulatory factor 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Van der Woude syndrome 1
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CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
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CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGGGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
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Task1_train_2594
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This alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Van der Woude syndrome 1
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TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCA
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TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGACCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCA
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Task1_train_2595
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Consider this mutation in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Popliteal pterygium syndrome
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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Task1_train_2596
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This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Orofacial cleft 6, susceptibility to
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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Task1_train_2597
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Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Van der Woude syndrome
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
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Task1_train_2598
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Here is a variant affecting SYT14 (synaptotagmin 14) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive spinocerebellar ataxia 11
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AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTTTTAATTACAAATTCAATTTCTTTAGTAAGACTGTTTCTGAACAGTCTTCCAGCATCTCTTCTGGTTGGTAATAACTTTCTAGAAAGATGTCTATTTCAGAGGTCTCCAACCCCCCGGCCACAGACCAGTACCAGTCCATGGCCTGTTAGGAATGGGCGCCGCACAGCAGGAGGTGAGCAGCAGTGGGCTAGCGAACATTACAGCCTGAGCTCGGCCTCCTGTCAGATCAGTGGCAGCATTAGATTACCCTCTACATCCTGTCCATGGAAAAATTGTCTTCCAGGAAACTGGTCGCTGGTGCCAAAAAGGTTGGAGATCGCTGGTATATTTCATTCAAATTTCAAATTTACTAGAAGAAACAACTTTCTTCTAGTATCCTATCCTATTATTTTTTCATGGTCTCTAGAATATGTAGTGATGTCTCCTTTTTCATTCCTGATCATTGTTATTCGTCCCTTTTTTCTTAATTGGACTCTCCAGAAATTTATTCATTTTATTAGTCTTTCAAATCACTTATTTTTATTATCATTTAGTTACCTATGGGTTACTAAAAGTATACCTTTAATTTCCAAAAAATATAGATATTTTATTCTCCTCTAGAACAGAGTTTGGTTTTCTAATCAATCAAAAAACATTATGAATAATTTTCATCATTTGAAATTATTATTTGCTTTAATTTAAAAATTCTGTGTACTTGGGAAAATTATATTTTGTAGTTATTAGGTATAATATTCTGCATATGACCATTAGGTCAATTTTGCTTATTGTGATATTCAAGTCTTCTACATCCTTATGGTACTTATTTGTCCACCCATTTGGTCAGTTACTGAATTTGGTCAGTTAATGAGGGAAGTGTGCTTATGTACCCAGTGATTATGGATGTCTGTGTTTCTCTTTCTAGTTCTGGCCATTTTTGCTTTCTGTATTTTGAGTCCATGTTATTAAATGCATCCAAATTTGGGATTATTTTAGTTTTTAGTAATTTCAATGTTTTATCATCATTTTGTATACTTCTTCAATCTCTAGTGGTGATTATTGCCTTAAAGCCAACCCTGACTGATACTAATGTAACTACATCAATTTGTTTGATTATTTTTTACATGATTAATTTTTCCCATGTTTTTCAACTTTTCTATATCTCTGTGTTTTAGATGTTGGCTTATAAATAGCAGGTAGTTTTGTTTTGTTTATTTAAAGGCACAGTTAGGACATTTGATGTATTGAGTCTAAATCTTTGTCAGTCTTTTAAGGTTGATAATCTTTAAACAATAATTTCTCATATTCAAAAAACAGTTTATTAGCATCTATAAGTTTAAGCAACATTGCTCTTATTTCCTTATAAATATGCAGGGATTTATGAAATCTTCTCATTTCCTATTACTTCTTTGGCTTTTACATAATGAAAAGAAATCCAGGGGCTAAAATATGCTAAGGACAATAATTCTAATCTGGTGTTTGGTTTGCAACTCATCTTTATTGTGATTTACCTACCTAATCCAAATAAACATGGCATAACAATATATCTCTTAATATATCTCTCTTGCAAAATACTATAAAAATGTTATTATTGATTACAGGGCTGTGACTCCCAAATGAGCGTGTCAGAAATGTCGTGTAGTGAAAGTACATCCTCATGTCAGTCTCTTGAACATGGCTCAGTTCCAGAAATTCTTATTGGCCTGCTTTATAATGCCACAACTGGAAGACTATCAGCAGAAGTGATAAAAGGCAGCCACTTCAAAAATTTGGCAGCAAACAGACCACCCAGTGAGTGAAAAATAATTTTTTTAATTCTAATGTTTTCTGCACTTTTGGGACTCTCAGTATTAGGGAGTTCAATCCTATCATTTAGTCTTAACCAATCAAAATGAAATGGTGTAATCATCAGCTAATCTGTTTCATGTTTTCTATTTCCAGTCATTTGGGAAGTAGAAAAATTTGAAATTCAAAGTATTCATAGTAAGGTGACAACTTTTAATTTTTCATAGTATCTGCAAAATAAATTATCTCTATCATAGCCATTATCTTTTAATGCCAGAAAAGGTTACAGGGCCTTTAAAAGTGAGTAATGTTCACAAATATGAACAGGAATGTATATAGCTATTGTTGTTAACTGAAGAGTAATGTGTTTTGTATCTGCATGCAGTACTATGAACTATTTTATTTACTTCTATATTTTCCTTCTTTCTCCCTTAACGATTTAAGAAGAAACTATTACTTCACTTTTTTTTTTCTTCTTTAAAATTATAAGCCAGTACTGCCAGCAGAGACTTTTCTTAGATGGAATGGGCTTTGCTCTTACCAGGACAAACAGAATAAGGAACAGTTTGCTGTTTACCCTGGATGCTAAGAAGGGAAAGCTAGATAGCATACCTCTGCCCTGACTATATGCGTGTTATGTCTGTTACTCTTCTCTCTCTGGATCTCTCTCCCAGTTCAACAAGGCCAGGGTAGGTTATGGGAGGATATTGAAATTGTCACCCAATATACCTCTAAAATGTTGGTACCTAAAAGAGGTAAACTGGGAAAGTGGCAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGTTTTGTTCTTATCGCCTAGGCTGGAGTGCAATAGCATGATCTCGGCTCACTGAAACCTCCGCCTCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCACACCTAGCTATTATTTTGTATTTTTAGTAGAGGTGGGTTTTCACCATGTTGATCAAGCTGGTCGCAAGCTCCTGACCTCAGGTGATCCATCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCAGCTTCTTTATACTTACCTAAAATTAAAGCTGTTAATGCCGTAAACTAAAAATTTGAAACGAAATCTGAAATAATAATGCCACTTTAAATTTTCTTAAAGAATTCTCACAGACTTACTTAATGCCATGTTTTATTCCAAGAAGCAAGTAATTATTATAGGAGGGGGTCCAGGCGCAGTACCTCATGCCTGTAATTCCAGCACTTTAGGAGGCTGAGGCGGGAGGATCACTTGATCCCAGGATTTCAAGACCAGCCTGGGCAACAAAGTGAGACCCTGACTCTACAAAAAATTTAAAAATTAGTCAGGCATGGTGGCTTGAGACTGTAGTGCCAGCTACTCAGGAGGGTGAGGTGGAAGGATCGCTTGAGCCAGGGAGATCAAGGCTGCAGGGAGCCAAGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACAAGGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAACTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGTGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGTGGCAGAGCAAGGCTCCATCTAAAAAAATAAAAATAAAAATAAATAATAATATTTATTAATTAAAATTAAAAAATAAAGGAGGGGTAACTTTTTTATCCTTGAATTTAACTCTTTCTAGTTGTCGTAAAAATTATTTATTCAATGGAAGTAAAAAGTTACTATAATATATTGGGTTTGCCCCAAATAACATTGGAAAGCTT
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AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTTTTAATTACAAATTCAATTTCTTTAGTAAGACTGTTTCTGAACAGTCTTCCAGCATCTCTTCTGGTTGGTAATAACTTTCTAGAAAGATGTCTATTTCAGAGGTCTCCAACCCCCCGGCCACAGACCAGTACCAGTCCATGGCCTGTTAGGAATGGGCGCCGCACAGCAGGAGGTGAGCAGCAGTGGGCTAGCGAACATTACAGCCTGAGCTCGGCCTCCTGTCAGATCAGTGGCAGCATTAGATTACCCTCTACATCCTGTCCATGGAAAAATTGTCTTCCAGGAAACTGGTCGCTGGTGCCAAAAAGGTTGGAGATCGCTGGTATATTTCATTCAAATTTCAAATTTACTAGAAGAAACAACTTTCTTCTAGTATCCTATCCTATTATTTTTTCATGGTCTCTAGAATATGTAGTGATGTCTCCTTTTTCATTCCTGATCATTGTTATTCGTCCCTTTTTTCTTAATTGGACTCTCCAGAAATTTATTCATTTTATTAGTCTTTCAAATCACTTATTTTTATTATCATTTAGTTACCTATGGGTTACTAAAAGTATACCTTTAATTTCCAAAAAATATAGATATTTTATTCTCCTCTAGAACAGAGTTTGGTTTTCTAATCAATCAAAAAACATTATGAATAATTTTCATCATTTGAAATTATTATTTGCTTTAATTTAAAAATTCTGTGTACTTGGGAAAATTATATTTTGTAGTTATTAGGTATAATATTCTGCATATGACCATTAGGTCAATTTTGCTTATTGTGATATTCAAGTCTTCTACATCCTTATGGTACTTATTTGTCCACCCATTTGGTCAGTTACTGAATTTGGTCAGTTAATGAGGGAAGTGTGCTTATGTACCCAGTGATTATGGATGTCTGTGTTTCTCTTTCTAGTTCTGGCCATTTTTGCTTTCTGTATTTTGAGTCCATGTTATTAAATGCATCCAAATTTGGGATTATTTTAGTTTTTAGTAATTTCAATGTTTTATCATCATTTTGTATACTTCTTCAATCTCTAGTGGTGATTATTGCCTTAAAGCCAACCCTGACTGATACTAATGTAACTACATCAATTTGTTTGATTATTTTTTACATGATTAATTTTTCCCATGTTTTTCAACTTTTCTATATCTCTGTGTTTTAGATGTTGGCTTATAAATAGCAGGTAGTTTTGTTTTGTTTATTTAAAGGCACAGTTAGGACATTTGATGTATTGAGTCTAAATCTTTGTCAGTCTTTTAAGGTTGATAATCTTTAAACAATAATTTCTCATATTCAAAAAACAGTTTATTAGCATCTATAAGTTTAAGCAACATTGCTCTTATTTCCTTATAAATATGCAGGGATTTATGAAATCTTCTCATTTCCTATTACTTCTTTGGCTTTTACATAATGAAAAGAAATCCAGGGGCTAAAATATGCTAAGGACAATAATTCTAATCTGGTGTTTGGTTTGCAACTCATCTTTATTGTGATTTACCTACCTAATCCAAATAAACATGGCATAACAATATATCTCTTAATATATCTCTCTTGCAAAATACTATAAAAATGTTATTATTGATTACAGGGCTGTGACTCCCAAATGAGCGTGTCAGAAATGTCGTGTAGTGAAAGTACATCCTCATGTCAGTCTCTTGAACATGGCTCAGTTCCAGAAATTCTTATTGGCCTGCTTTATAATGCCACAACTGGAAGACTATCAGCAGAAGTGATAAAAGACAGCCACTTCAAAAATTTGGCAGCAAACAGACCACCCAGTGAGTGAAAAATAATTTTTTTAATTCTAATGTTTTCTGCACTTTTGGGACTCTCAGTATTAGGGAGTTCAATCCTATCATTTAGTCTTAACCAATCAAAATGAAATGGTGTAATCATCAGCTAATCTGTTTCATGTTTTCTATTTCCAGTCATTTGGGAAGTAGAAAAATTTGAAATTCAAAGTATTCATAGTAAGGTGACAACTTTTAATTTTTCATAGTATCTGCAAAATAAATTATCTCTATCATAGCCATTATCTTTTAATGCCAGAAAAGGTTACAGGGCCTTTAAAAGTGAGTAATGTTCACAAATATGAACAGGAATGTATATAGCTATTGTTGTTAACTGAAGAGTAATGTGTTTTGTATCTGCATGCAGTACTATGAACTATTTTATTTACTTCTATATTTTCCTTCTTTCTCCCTTAACGATTTAAGAAGAAACTATTACTTCACTTTTTTTTTTCTTCTTTAAAATTATAAGCCAGTACTGCCAGCAGAGACTTTTCTTAGATGGAATGGGCTTTGCTCTTACCAGGACAAACAGAATAAGGAACAGTTTGCTGTTTACCCTGGATGCTAAGAAGGGAAAGCTAGATAGCATACCTCTGCCCTGACTATATGCGTGTTATGTCTGTTACTCTTCTCTCTCTGGATCTCTCTCCCAGTTCAACAAGGCCAGGGTAGGTTATGGGAGGATATTGAAATTGTCACCCAATATACCTCTAAAATGTTGGTACCTAAAAGAGGTAAACTGGGAAAGTGGCAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGTTTTGTTCTTATCGCCTAGGCTGGAGTGCAATAGCATGATCTCGGCTCACTGAAACCTCCGCCTCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCACACCTAGCTATTATTTTGTATTTTTAGTAGAGGTGGGTTTTCACCATGTTGATCAAGCTGGTCGCAAGCTCCTGACCTCAGGTGATCCATCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCAGCTTCTTTATACTTACCTAAAATTAAAGCTGTTAATGCCGTAAACTAAAAATTTGAAACGAAATCTGAAATAATAATGCCACTTTAAATTTTCTTAAAGAATTCTCACAGACTTACTTAATGCCATGTTTTATTCCAAGAAGCAAGTAATTATTATAGGAGGGGGTCCAGGCGCAGTACCTCATGCCTGTAATTCCAGCACTTTAGGAGGCTGAGGCGGGAGGATCACTTGATCCCAGGATTTCAAGACCAGCCTGGGCAACAAAGTGAGACCCTGACTCTACAAAAAATTTAAAAATTAGTCAGGCATGGTGGCTTGAGACTGTAGTGCCAGCTACTCAGGAGGGTGAGGTGGAAGGATCGCTTGAGCCAGGGAGATCAAGGCTGCAGGGAGCCAAGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACAAGGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAACTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGTGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGTGGCAGAGCAAGGCTCCATCTAAAAAAATAAAAATAAAAATAAATAATAATATTTATTAATTAAAATTAAAAAATAAAGGAGGGGTAACTTTTTTATCCTTGAATTTAACTCTTTCTAGTTGTCGTAAAAATTATTTATTCAATGGAAGTAAAAAGTTACTATAATATATTGGGTTTGCCCCAAATAACATTGGAAAGCTT
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Task1_train_2599
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This variant affects the gene HHAT (hedgehog acyltransferase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Chondrodysplasia-pseudohermaphroditism syndrome
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GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGAATTCACTTCAAATTTTCCAGCATGTTTATGAATTCTAGAATCTATGTGTTTTAAGTTACTGTGCATCTCTAAACAACAGGCAGTGAGGTGAGACCACAGAACTGGGCTTTAAAAATTTTCATCTGTGTTGTCCACTGTATTGAGTATGCCCTCAGTAGCTTCTATCTGTATCTATGAATAATCAAAACATCCCTCTCTTGCCTTTGGTGTTTGGCTCTGAGCTGTCTCCTAATGCTGCCCTGTAGCTGGTTGTCTGGGATGCCACATGGGAAGGATGGGAAGACACACATGGAGGCGGTTAATGATAGATATTAACTACCAAGTATCCAGTGCTTCTTGTATGCCTAAGTACTTCACATACTTCATCATATTTAATCACCACAACAATGTTTTTTACTTTAGGAGGAAACCCAGACTCGGAAAGGTTAAGTAACTTGCTCAGGATCACACAGCTGTGTAGTTTGTGGTAGAATTTGATCCTGATCCTCTGACTCTAAAGTCCATTTTTTAAAGAAGAAAATTCCTTTTACAACAACATCAAAAATAACAAAATATTTAGGACTAACTTTAATCAAAGAAGTACAAGACTTGTACACTGAGCACTACACACATTGCTGAAAGAAATTTAAAGAAGACCTGATAAATGGAAAAACAGCCCGAGTTTATGGAGTGAAACTCAATATTGTTTTGATGGCAAAGCTACCCGAAGTGACTTATTTTACTTTTGTTTTGTTTTGTTTTTTAGACAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCCCATGCCCAGCTAGTTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTCCTGGGATTCTAGGTGTGAGCCACCATGCCCCACCTTATTTTACATTTTCTAAAGTCTGTATTCTTAACTGTTATGCTCTGCTGCCTACTAAGCAAGAGACTTGTTCCACATACTGTCTGCCATGTTTCAAAAAACAACTTAGGGTGAAATGACATGCCCACACATCATTTTCCCTTGCTCTCAGCCCATCTTTTTCTCTTTCTCTTCTACCAGTCCTGTGTCTCTTGTTGACTGGGACCTGCTTTTGCCAGCCTCAGACATGAGTAGGTGATGGAGGAATTCAGGCAGGGTGGCACCTGTAGCCCGAAACTCCAAATTCCCAGTGGGGAAAATACACTGAGTGCTGCCCTCCCCGCTTGGGTTTTTCCAGGGCTGATGCTGGAGTGGAGGGATCAGTGCAGAACGTGTCTTTGGCTCTTGGCACTAGGCTAGCTTGTTGACCCCCAACCCCCATTCTTATTTTGAGACAAATGTTCAAGCTGAAATACGATTCTTCCAACCAAGAACATTGAGTGTTCCCAAGACAAACCAAACCAACCCTCTGTCAGCTGGCATAGCAATAATATTTGTGGGAAGTTTATGAAAAATCTTATCTAAGGGACTGTTTTAGGAATCAAGGCACCATCGAATGACCTCTTTTGTTTCCACTTTAGATGCAGCAGCAGGAGCATGACTCCCTGAAGGCCAGCCTGTGTGTCCTGGCCCTGGGGCTGGGCCGCCTTCTTTGCTGGTGGTGGCTGGCCGAGCTGATGGCTCACCTGATGTACATGCATGCCATCTACAGCAGCATCCCCCTCCTGGAGACTGTCTCTTGTTGGACCTTAGGTAATTGTGGGAATCACCAACAGTGGGATGAGCCCCAATAGTCCAACAGTTAGCATCAGAATGGAGCTGGAGTGGGGGGTGAGCAGGGGTGCAGGTGCCTATAGCAAACCCTCTTTATTATTATTTTTTAACCTACTCCTCTTGTGGCCAAGATTGTGCATGTGAGAAGTGGTTGATGTAGCTGACGGAAGTGAGGGCTGTGCTTGTAGTCTGGGGACCAAGAATGGTGGCATTCTTCTCTGTAATGGGATCCTACTGACCTTAGCTGGGTCCACATCTTCACAGCGTAGCCAATATTGTGTTTAGCAGTAGAAGGCAGGAGTTGCTGGGGGCAGCTTTGAGTTCATTCTAAGAGAGAATGCTCCAAGATTGAGTTGTTCCACAGTCTTCCTTGTTCTTTGTGCATAAGGTATTAAAGAATATGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGAAGGTGAAATCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGAGAGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCCACCACACTCCAGCCTGGGTGACAAAGCATGACTCTGTCTCAAAAAAAGAATGAGTTTCAGGATCACACAGCCATAGGTTTGAGTTTCAGCTTCACCAATGACTGGTGTGTAACCTTGGCAGTTTACTTAACCTCTCGGTTCCAGCACCCTCATCTGTAAAATAGGGAGACTTAGCTTTGTGGAATAATAGGAGGATATTAGGCAGCGCTGCACATTGAGGGTGTACCTTGTACACTGTCTTGGGATAGAATAAATGGCGTGTGTGTATTTCCCTCTGTAGATCCCCTTTCCTTATCTACCCTTTCCTGTGTGTCTGCCAGGGAGGTGGCATGGAAGTCTTACTTCCTCAGCAGGGCTAGTCTCCAGTATAGGATTTGTCTGTGGAGAAACCACTGTTCTTTTATTCCTCTGGCCAAAACAGCAGAGCCCACGCCCTTTTCTGAATAAAATCTCTTCACTTCCTTGTTCTCTCTCCTTTTGAGGACTCCCGCAGTGGCTGACTTCTGCCTGTGCTCTGACCTCCAGCCTGTAGCTCCAATAACTGTGTGATCCTCCAGGCAGATCAAGCTGTTCCCTGCTGAGGGCAAGAGTACAAGCCTGACTCCTTCTTTATCTGTTTAACATTTCATAGATCTTCTTAAACAAATCTTGATTGTTCTTGGTATCACACGTACTTAATCAGAATGTTTCCAAGGACGAAACCTTTAAGATTGAAAAAATGCTAAGCTAGTTTAATGATAGTCTCTTTCTTCCAAACAAAACTTTTTATAGTTTGGAGTTGCTAATATTGTAAAGTTTTAATGATACAATTAGACAAACAGAATATGATTAAATGATAGCTTATACTAAGTCAGATCCCAGTTGTATGGGATACAAACTAAGGGACTGTTTCAGCTTGAGGGTTTTTAAACTAAAAGTAATGGAAGACACAACTCAAAATGGGGCTTAAACAATAAGGAAGTTATTCCATATAACAATGATACTTAAGATCGGCACTAGGGGTAGTAAATTATGTGACTCTGATGTCACCAACACACCTTTTGTGTGTCCACCATTCAGCTTAAGAACTAACCAGAATCGTAGAAGCCCTTAGTTTGTACTCGTAATCCCATCAGCCTCTATTACCCTCTCTGAAAAGATTACCTGAATATTGTATTTATCCTTTTCTTCTTTTTCTTTGTACTTTTACCACAGTTAAATCCTTAAAATTGCATATGTTAACACCTCGTCGTATGAATAGATTCATGCTTGTTATGTATGTTCTGTGACTTGGTTTTCTTGTTTAACATTATGT
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GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGAATTCACTTCAAATTTTCCAGCATGTTTATGAATTCTAGAATCTATGTGTTTTAAGTTACTGTGCATCTCTAAACAACAGGCAGTGAGGTGAGACCACAGAACTGGGCTTTAAAAATTTTCATCTGTGTTGTCCACTGTATTGAGTATGCCCTCAGTAGCTTCTATCTGTATCTATGAATAATCAAAACATCCCTCTCTTGCCTTTGGTGTTTGGCTCTGAGCTGTCTCCTAATGCTGCCCTGTAGCTGGTTGTCTGGGATGCCACATGGGAAGGATGGGAAGACACACATGGAGGCGGTTAATGATAGATATTAACTACCAAGTATCCAGTGCTTCTTGTATGCCTAAGTACTTCACATACTTCATCATATTTAATCACCACAACAATGTTTTTTACTTTAGGAGGAAACCCAGACTCGGAAAGGTTAAGTAACTTGCTCAGGATCACACAGCTGTGTAGTTTGTGGTAGAATTTGATCCTGATCCTCTGACTCTAAAGTCCATTTTTTAAAGAAGAAAATTCCTTTTACAACAACATCAAAAATAACAAAATATTTAGGACTAACTTTAATCAAAGAAGTACAAGACTTGTACACTGAGCACTACACACATTGCTGAAAGAAATTTAAAGAAGACCTGATAAATGGAAAAACAGCCCGAGTTTATGGAGTGAAACTCAATATTGTTTTGATGGCAAAGCTACCCGAAGTGACTTATTTTACTTTTGTTTTGTTTTGTTTTTTAGACAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCCCATGCCCAGCTAGTTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTCCTGGGATTCTAGGTGTGAGCCACCATGCCCCACCTTATTTTACATTTTCTAAAGTCTGTATTCTTAACTGTTATGCTCTGCTGCCTACTAAGCAAGAGACTTGTTCCACATACTGTCTGCCATGTTTCAAAAAACAACTTAGGGTGAAATGACATGCCCACACATCATTTTCCCTTGCTCTCAGCCCATCTTTTTCTCTTTCTCTTCTACCAGTCCTGTGTCTCTTGTTGACTGGGACCTGCTTTTGCCAGCCTCAGACATGAGTAGGTGATGGAGGAATTCAGGCAGGGTGGCACCTGTAGCCCGAAACTCCAAATTCCCAGTGGGGAAAATACACTGAGTGCTGCCCTCCCCGCTTGGGTTTTTCCAGGGCTGATGCTGGAGTGGAGGGATCAGTGCAGAACGTGTCTTTGGCTCTTGGCACTAGGCTAGCTTGTTGACCCCCAACCCCCATTCTTATTTTGAGACAAATGTTCAAGCTGAAATACGATTCTTCCAACCAAGAACATTGAGTGTTCCCAAGACAAACCAAACCAACCCTCTGTCAGCTGGCATAGCAATAATATTTGTGGGAAGTTTATGAAAAATCTTATCTAAGGGACTGTTTTAGGAATCAAGGCACCATCGAATGACCTCTTTTGTTTCCACTTTAGATGCAGCAGCAGGAGCATGACTCCCTGAAGGCCAGCCTGTGTGTCCTGGCCCTGGGGCTGGGCCGCCTTCTTTGCTGGTGGTGGCCGGCCGAGCTGATGGCTCACCTGATGTACATGCATGCCATCTACAGCAGCATCCCCCTCCTGGAGACTGTCTCTTGTTGGACCTTAGGTAATTGTGGGAATCACCAACAGTGGGATGAGCCCCAATAGTCCAACAGTTAGCATCAGAATGGAGCTGGAGTGGGGGGTGAGCAGGGGTGCAGGTGCCTATAGCAAACCCTCTTTATTATTATTTTTTAACCTACTCCTCTTGTGGCCAAGATTGTGCATGTGAGAAGTGGTTGATGTAGCTGACGGAAGTGAGGGCTGTGCTTGTAGTCTGGGGACCAAGAATGGTGGCATTCTTCTCTGTAATGGGATCCTACTGACCTTAGCTGGGTCCACATCTTCACAGCGTAGCCAATATTGTGTTTAGCAGTAGAAGGCAGGAGTTGCTGGGGGCAGCTTTGAGTTCATTCTAAGAGAGAATGCTCCAAGATTGAGTTGTTCCACAGTCTTCCTTGTTCTTTGTGCATAAGGTATTAAAGAATATGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGAAGGTGAAATCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGAGAGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCCACCACACTCCAGCCTGGGTGACAAAGCATGACTCTGTCTCAAAAAAAGAATGAGTTTCAGGATCACACAGCCATAGGTTTGAGTTTCAGCTTCACCAATGACTGGTGTGTAACCTTGGCAGTTTACTTAACCTCTCGGTTCCAGCACCCTCATCTGTAAAATAGGGAGACTTAGCTTTGTGGAATAATAGGAGGATATTAGGCAGCGCTGCACATTGAGGGTGTACCTTGTACACTGTCTTGGGATAGAATAAATGGCGTGTGTGTATTTCCCTCTGTAGATCCCCTTTCCTTATCTACCCTTTCCTGTGTGTCTGCCAGGGAGGTGGCATGGAAGTCTTACTTCCTCAGCAGGGCTAGTCTCCAGTATAGGATTTGTCTGTGGAGAAACCACTGTTCTTTTATTCCTCTGGCCAAAACAGCAGAGCCCACGCCCTTTTCTGAATAAAATCTCTTCACTTCCTTGTTCTCTCTCCTTTTGAGGACTCCCGCAGTGGCTGACTTCTGCCTGTGCTCTGACCTCCAGCCTGTAGCTCCAATAACTGTGTGATCCTCCAGGCAGATCAAGCTGTTCCCTGCTGAGGGCAAGAGTACAAGCCTGACTCCTTCTTTATCTGTTTAACATTTCATAGATCTTCTTAAACAAATCTTGATTGTTCTTGGTATCACACGTACTTAATCAGAATGTTTCCAAGGACGAAACCTTTAAGATTGAAAAAATGCTAAGCTAGTTTAATGATAGTCTCTTTCTTCCAAACAAAACTTTTTATAGTTTGGAGTTGCTAATATTGTAAAGTTTTAATGATACAATTAGACAAACAGAATATGATTAAATGATAGCTTATACTAAGTCAGATCCCAGTTGTATGGGATACAAACTAAGGGACTGTTTCAGCTTGAGGGTTTTTAAACTAAAAGTAATGGAAGACACAACTCAAAATGGGGCTTAAACAATAAGGAAGTTATTCCATATAACAATGATACTTAAGATCGGCACTAGGGGTAGTAAATTATGTGACTCTGATGTCACCAACACACCTTTTGTGTGTCCACCATTCAGCTTAAGAACTAACCAGAATCGTAGAAGCCCTTAGTTTGTACTCGTAATCCCATCAGCCTCTATTACCCTCTCTGAAAAGATTACCTGAATATTGTATTTATCCTTTTCTTCTTTTTCTTTGTACTTTTACCACAGTTAAATCCTTAAAATTGCATATGTTAACACCTCGTCGTATGAATAGATTCATGCTTGTTATGTATGTTCTGTGACTTGGTTTTCTTGTTTAACATTATGT
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Subsets and Splits
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