Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA
Task1_train_2503
Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hypertrophic cardiomyopathy 2
TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAG
TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCTCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAG
Task1_train_2504
This gene mutation involves TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACT
AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCAGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACT
Task1_train_2505
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?
Pathogenic; Hypertrophic cardiomyopathy 2
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2506
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?
Pathogenic; Cardiomyopathy, familial restrictive, 3
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2507
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?
Pathogenic; Dilated cardiomyopathy 1D
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2508
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.
Pathogenic; Cardiomyopathy
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2509
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.
Pathogenic; Hypertrophic cardiomyopathy
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2510
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.
Pathogenic; Cardiomyopathy, familial restrictive, 3
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2511
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
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2512
A sequence alteration has been identified in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Dilated cardiomyopathy 1D
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2513
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?
Pathogenic; Cardiovascular phenotype
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2514
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.
Pathogenic; Primary familial hypertrophic cardiomyopathy
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCAGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTG
Task1_train_2515
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.
Pathogenic; not provided
ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTC
ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGAGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTC
Task1_train_2516
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.
Pathogenic; Hypertrophic cardiomyopathy
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2517
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?
Pathogenic; Dilated cardiomyopathy 1D
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2518
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.
Pathogenic; Hypertrophic cardiomyopathy 2
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2519
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.
Pathogenic; Cardiomyopathy, familial restrictive, 3
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2520
Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cardiomyopathy
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2521
An alteration has been detected in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Cardiovascular phenotype
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2522
Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cardiomyopathy, familial restrictive, 3
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2523
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?
Pathogenic; Dilated cardiomyopathy 1D
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2524
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.
Pathogenic; Hypertrophic cardiomyopathy 2
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGTTCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAAGTGACTGGGACCACTTAGAACCCTGGTGAAGGCTGCAGCATGACGATGACTGCAGCAATGACCCACCATGACCATCTATGCATTGGGATTTCATCCTACGGACACCACATCCTACAAGTGATTTCACCTAAGCTCTAGGAGCTTCATGTGTGGATATGACTTCTGGGTCCCATTGCTCTGTCCAGACCAGGGGGCTGGACAATGGTCCCCTCTCCCACTGGGTGCCACCAATGCAACTTCTCTGGGAGAAGGGGCAAAGTTGAAAGCTCAACATCTAAAACTTTGGAAGTGCCACCAAGTTCTGTCCTCTCCTCTCCCAAACCCTCTCAGTGCACATCCACTTCCCT
Task1_train_2525
This alteration occurs within gene LMOD1 (leiomodin 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCC
GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGTGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCC
Task1_train_2526
Here’s a variant in LMOD1 (leiomodin 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCGTGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCCTGGCCCCTGCTTTTAAGGAGTAGGCCAATAGTTCTGAGATACAGAAATTTTATAAGGCAATACATTTCCAAAGGAAAAAAAGGTAGAGGGATCAACATATGCTAACATTTTATTTTACCAATTAAGGATATTTGTAAATTATTATCATTATTATTG
GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCAGAGACAAGAAAAGGAAAGTGAGAAGAGATAAGGCATCCTTCCTTGAGCGTGACCCAGGCCTGGACTCTCCCATGGCAGAATAGGGACATCCACAGCAGGTCAGCCAGGGATGGGGTGGGCAGGGTCTGTGTAGCCCTGGGAGGTGAGGCCTGAGCAGTCATGGCATTGGCAGATGGTGCCTGGCAGCCTGGTCCTACTGAAGCAGTTTGGGCACTTCCACCTGTAGGGGCAAAGTAGAGACAGGTTAGAGAAGGGAGCTCAGCCACCTCACCTCCCTCCCTACTGGAAGGACACACAAGACACTGCAATATGTTATGTCTGTGGAATGTGAATGAGGTGTTGACACTGAGGGAGCATTTTTCATTGTCTGTAAAAATTGGATGTCATTGAGTGACCACTGGAATTACAATTGAGATTTTCCTTTATCTCATGATACCTTGTCCCAGATGATGTTGTGGGGGTTGGGTATCCAACCAAATGGACAAACGATCGTGGACTTTGTCACCCAGGCCAGACTTCCAGGGGAGGCAGGGCTTGGAGAAGTAGGGTGTCCAGGGATGGCTCCTGTGTCCATGGCACTGGCTAGGCAAAGGTAGACTCTCCTGAGAGGTGAATCTCCCAGAGACCTTTCGGATGGACTGACCTGTAGGACTTGGCTGGTCCTGAGAGGAGGCTAAGTAAAACGTGGATCATTTTTGTTTGGGGAAATGGAGAAGACTTAAAGGAAGGACCCGAGGCAAAACTACTCTGTAGAGGCCATTTCTCCATTTTAAGGAGAAACAGGCTTCATTGCAGAATGAAAGAGAAGCATGGAGTGAGGTATTAAAGGAAGCTCCTTAAAGGAAGGGTAGAGTCTCAGCTCTAGGGGATATACAGGTGTGACCTGCCTGCAGGCAGGAGGATGCATGAGATGACCTGAAGTCCCCTATGGGCCCTGGGAGTCTATATCATCTGCAGCCGACATAAGCTCCTCTGCATGCCTTCCCTTTTGCAGTCCTACCCTCTCCTCCAGGCCCTACCCAGCCCCGCCCTGTTGGCTCATGCCCACAACTACTTAACTTCTTGAGCTGCTTGAGGTTGCTGGAGCGGATGGCAGCCAATAGCTGGTCACGGGAGTTCTTCTCCTGGGCAGGGAGGACTTTGTCTCCCATCTTCCTCTGGGTAGCTGGTGAGAGTGAATTCTTCAGGTTCTCCATGATAAGGGGTGGAGCCAAGGGAGGGGGAGGGGGTGGTGGGGCAGCTGGAGCACCCCCTTTTTTGGGTGAGTTCTTTGGAGAGGGCTTTGGAGATGGTTGAGGTGAAGGTTTTGGGGAGCCCTTAGCCACGGCCCCGGCCTTGGGTACCTCCAGCAGATCCTTCTTCTCTCCCTTGGCTTCCTGTGCCTGCCTTTGCTCCTGCAGCCGCTTTTGTCTCTGCTTGTCCATGTTGCGGCTGAGCAGATTGGTGACAGTCATTCGGGGCCCGGCCAGCTCAAAATGGTAGCCCAGCTTGAGCAGGGTAGTATTCTCCTTCAGCAGCTTGGCGATCTCCATCTCCGTCTTGCCTCCACAGATGTGTCGCTGGTTGTGGAAGCGGAGCTCGGTCAGCGTGTTGTTCTGGAGGAGGGCCCGGAAGATGGCCAGGATGCCTTTGCCTGTGATGTGGTTGGAGTCCAGGTTGAGGCTGGTGATGGTCTTGTTGGCCTTGAGCATGATGGCAATGGCAAAGGCCACGTGGTCATCGGCTCGCATGTTGGCCAAGGCGAACAGCTTAACCACAGTGTTGAACTCCAGAGCCTCAGTAAACCGGACCAAGATCTCATTTGTGATGCAGTCTGAGTTGTTGACGTTCACCTCAGTCATCTCGGGGTCATTGTTCTTCACTCTCTCCAGAGGCTCATCAAATATGCTGGGAGCTGCCTCCTCCTCCACCTTGGCCGGTCCTTCAGAGGGCTTGGTGGGGCCACTGGGCGTCTGTTTCTCGGGTGTTTTGGTCTTGCTGTCATCCTTGGCTTCCTTTTCATGTAAGGGTTCATTCTTCTTGACTTTTTCATCGTCCTTTTTGGTGTCTGTGTTCCCAGTTCCTCTTTTTACCTTCTCATCCTCCTTTTTCATGTCTGTGTTCCCACCTGCTCTTTTCATCTTCTCACCCTCTTTTCTGGTGTCTGTGTTCCTACGCTCCCCTTTTACCTTCTCATCATCCTCTTTCTTGGCCACCTCCTTCATCTCCTCTCTCTTTTTATCCTTGTCCCTGCTCAAGCCTGTGTTCCTGTCACTCCCTTTCTTCTCCTCTTCCTTCTTGGTGGCCACTGCCCTCTCCTCTCCTCTCCCATCCTTCCCTGCCTCCTTCTTATCCACTGCAGCCCTGACCCGGCCCTTGTCAATGCCCCGGATGATCTTCTCCTCCTTGGGCTTCTCGCCACTCTTGCCACCAGCTTCATCTCTGTCTCTAGAGAAGCTTTTCTTTAAACCACCCCTCTTTGGCTCCTTCCCCAGATCTGAGTCCCGTCTGGGGCCCAGGGCTTTTTTGCTGGCATCTCTGCCCCTTTCCTCTCCATTCTTGGCATCTGTCTTGGTCTCCACTTGCTTGCTTTCCTAAGAATTCAGAAAAGAAAAATAATCATGAAAAGCTGGCTACAGAGGGAGAGGAATGAGTATGGGGATGTGTGGGGGAGCGCTTACATAACTGCCCTTGAGCCTCTGAAGGACAGTTGTGCTGTTTGGGAGAGTGGGGTGGATGTCTCCATTGAGGGCAGCAAAAGAGGGACTCAGGTTTAAGCTGCAGAAATGGGATGACATCAGACTCAAGGCCTCAGGGTTGTGAGACAACCAAACAAATACCTGCAAAGGTTGTGGCAGTTCCTTTTATGGAGTATTCTCAGACCCAGAATTGCCCTTTCCTATCATGGGTGATTTAGAAGGACTGCTTCCAAGCAATGCCCTGCCAAGCACATTGGAACCTGAGGCAAAAGGAGAAATACTAACACTGATCCTGTCTTTAAAATTTTGCATTGGTGTTTATTGTGGACTTTTTGCATTCGTTTTATTTTTAAAAATATACATGAAGTCCGGGCGCGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCTGTGTCTACTAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGACTGCACCATTGCACTCCAGCCTAAGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATATATATATATATATATGTATATATATATATATATATATACATATATATATGTATATATATATATATATATACATATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGTATATATATATATACACATATATATATGTGTATATATATATATATGTGAAAACATCAGTTATCTTGCTCACTGAGTTTTTGGCATCCGCTTATATTCTGTGCCCAAGGTGAGTGCCTCACATCCCTTCACCTTAGTCCTGGCCCCTGCTTTTAAGGAGTAGGCCAATAGTTCTGAGATACAGAAATTTTATAAGGCAATACATTTCCAAAGGAAAAAAAGGTAGAGGGATCAACATATGCTAACATTTTATTTTACCAATTAAGGATATTTGTAAATTATTATCATTATTATTG
Task1_train_2527
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.
Pathogenic; Fanconi anemia complementation group T
TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCGCAGTATTCTAATCATGTATGTTTCCCATCTGGCCTCACAGATATTTGAGATGGTTATCTTTGATCTAAACACTGCTTCACTGCTTTAAATCTTGGCTATAAATCAGCATAAGGTATAATAAAAAGTCAAAGAAGCAAGAAATGTCAAGCAAACCTTTTATAAATGTAAACAAATTTGGGTAGAAAGATGGTAGGGCACTCTGACCTTATAACTGCTCCTTACTTTAGAAGAATACACAAAATGTTTTATTTCAGCACAATCTTCAATAGGGTCATGACTTTCATCATATACATGATTTGATACCTACGAGCTCGCAGGTCATCCATTTGGTCTTTATCTTGCCAACATGTGATGCCTGGGGGTGGCTCTGTGGCTAACATGTGCAGCTCTCTCTTCAGACGTGAAGCTCTCTGCATGATCCCCAAGTAGAAGGAACCACACACAGTTCACTGCTCCACACTAAGAGCTGCCTGGGATGCACTGGAGGAGAAAAGAGGTGACCATAAAATCATCAGCAATAATGACTATGAAGTTTTCAGCAAACAGCTTCAATGTAGTGAGGGTGGGGGACAGAGTCCTCTTTTTTGTTTTGAGACACAGTTTCACTCTGTCACCCAGACTGGAGGGCAGTGACACCATCTCAGCTCACTGCAATTTCCACCTTCTGGGTTTGAGCAATTCTCATGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTCATTTTAGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAATGCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAATGCACCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCACCTGCTGGGCTTAAGTGATCCTCCCATCTCAGCCGCCTATGTAGCTGGAAGTACAGGTGTGTGCCACCACGCCAGTCCAAGATTCCTCTTATTAATCTCTATTCTGACAAGGGAATCTGAGTTTTTCCACTCCCTTCTTGTGAACGTTTATCTATACAAGCAAATATATTTTTAAAATAAAGAACTAAAAATGCAAAAAGTTCTACAAAAAATAAAAACACTAAAGGTTTTAAATAATGGGTGTTTCCACTGATAAATTATAAACTCATGAGGCCAGGCCTGGGTCTGATTTTGCTTACTATTGTAGCCTTAGCATGCCTGTCATAGTAAGGGATTTGACAAATATTTGCTGTTGTGAGGAAGTCTACATATGCTTTGTGAGAGCAAGAATGGTAGAGATAGTCAACATTCTCAGGTACAAACAAATGTTAAATGTCCGAGTTTCTCTCCATGTGCTATGGATTCCACCTTCTCCCAATCTTCAGGGATACCATTCCATCAATTATTCCATCTTTCTTACCCTCAATGTTCAAATATGCTCAAAGTCTCTCTCACCTAAAACCAACACCTACACACATATTCACCCAACACTCTTCTCAACTCTAGTTCTCTCTTTACTAACCAAGCAAAGGACACTAATCCCTTTTGTTTTTTAGACGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGCAGCTGGCATTACAGACGCCCGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCAGCCAACACCAATCCTTTAATGTGTTACAAATATCCCCCAGTTTGTGCTTATCTTTCCATGTTGTACATGGTGTCTTTCAATAAACACATACTCTTAACATAATCAATCTTAAAATCTCTTTCTTTACATTTATACTTTGTGTATTAAATTTTTCCTTACCCCCAAATGTAGAGATATTCCTACATAGCCTTCAAATATTTTATAATTTTGCTATTCAAATTTAAATATTGAATCCACTAGGAATTGAATTTTATGTATAGTGAGTGAGGTGGGGGTCCAATTTAAAGTTTTTCCCCATATGAATAGTCAATTGTTCTAACATCATTTACTGAATCAGTCCATCCTTTCCCTGCTGATATTACTATAAATTAAATTTCTATATGTGTGGATTTGTTTTGGGACTCTTGAATTTGTTCCACTGGTCAAGTGGATTATTTCTGAGACAATACTCCACTGTTTGAATTACTATAGCTTATTCATTTTTTATTATTTAAATTTTTTCCCAGCTTTACTGAGGTATAACTGGCAAATACAAATTGTATATATTTAAGGTGTACAATG
TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCGCAGTATTCTAATCATGTATGTTTCCCATCTGGCCTCACAGATATTTGAGATGGTTATCTTTGATCTAAACACTGCTTCACTGCTTTAAATCTTGGCTATAAATCAGCATAAGGTATAATAAAAAGTCAAAGAAGCAAGAAATGTCAAGCAAACCTTTTATAAATGTAAACAAATTTGGGTAGAAAGATGGTAGGGCACTCTGACCTTATAACTGCTCCTTACTTTAGAAGAATACACAAAATGTTTTATTTCAGCACAATCTTCAATAGGGTCATGACTTTCATCATATACATGATTTGATACCTACGAGCTCGCAGGTCATCCATTTGGTCTTTATCTTGCCAACATGTGATGCCTGGGGGTGGCTCTGTGGCTAACATGTGCAGCTCTCTCTTCAGACGTGAAGCTCTCTCCATGATCCCCAAGTAGAAGGAACCACACACAGTTCACTGCTCCACACTAAGAGCTGCCTGGGATGCACTGGAGGAGAAAAGAGGTGACCATAAAATCATCAGCAATAATGACTATGAAGTTTTCAGCAAACAGCTTCAATGTAGTGAGGGTGGGGGACAGAGTCCTCTTTTTTGTTTTGAGACACAGTTTCACTCTGTCACCCAGACTGGAGGGCAGTGACACCATCTCAGCTCACTGCAATTTCCACCTTCTGGGTTTGAGCAATTCTCATGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTCATTTTAGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAATGCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAATGCACCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCACCTGCTGGGCTTAAGTGATCCTCCCATCTCAGCCGCCTATGTAGCTGGAAGTACAGGTGTGTGCCACCACGCCAGTCCAAGATTCCTCTTATTAATCTCTATTCTGACAAGGGAATCTGAGTTTTTCCACTCCCTTCTTGTGAACGTTTATCTATACAAGCAAATATATTTTTAAAATAAAGAACTAAAAATGCAAAAAGTTCTACAAAAAATAAAAACACTAAAGGTTTTAAATAATGGGTGTTTCCACTGATAAATTATAAACTCATGAGGCCAGGCCTGGGTCTGATTTTGCTTACTATTGTAGCCTTAGCATGCCTGTCATAGTAAGGGATTTGACAAATATTTGCTGTTGTGAGGAAGTCTACATATGCTTTGTGAGAGCAAGAATGGTAGAGATAGTCAACATTCTCAGGTACAAACAAATGTTAAATGTCCGAGTTTCTCTCCATGTGCTATGGATTCCACCTTCTCCCAATCTTCAGGGATACCATTCCATCAATTATTCCATCTTTCTTACCCTCAATGTTCAAATATGCTCAAAGTCTCTCTCACCTAAAACCAACACCTACACACATATTCACCCAACACTCTTCTCAACTCTAGTTCTCTCTTTACTAACCAAGCAAAGGACACTAATCCCTTTTGTTTTTTAGACGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTTCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGCAGCTGGCATTACAGACGCCCGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCAGCCAACACCAATCCTTTAATGTGTTACAAATATCCCCCAGTTTGTGCTTATCTTTCCATGTTGTACATGGTGTCTTTCAATAAACACATACTCTTAACATAATCAATCTTAAAATCTCTTTCTTTACATTTATACTTTGTGTATTAAATTTTTCCTTACCCCCAAATGTAGAGATATTCCTACATAGCCTTCAAATATTTTATAATTTTGCTATTCAAATTTAAATATTGAATCCACTAGGAATTGAATTTTATGTATAGTGAGTGAGGTGGGGGTCCAATTTAAAGTTTTTCCCCATATGAATAGTCAATTGTTCTAACATCATTTACTGAATCAGTCCATCCTTTCCCTGCTGATATTACTATAAATTAAATTTCTATATGTGTGGATTTGTTTTGGGACTCTTGAATTTGTTCCACTGGTCAAGTGGATTATTTCTGAGACAATACTCCACTGTTTGAATTACTATAGCTTATTCATTTTTTATTATTTAAATTTTTTCCCAGCTTTACTGAGGTATAACTGGCAAATACAAATTGTATATATTTAAGGTGTACAATG
Task1_train_2528
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?
Pathogenic; Congenital myasthenic syndrome 7
AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACAT
AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTTTGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACAT
Task1_train_2529
This alteration in SYT2 (synaptotagmin 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; not provided
CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCAGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGG
CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGGCTGAAGGATTGGAAGAAGACTCAGTGCAAACCTGACTAACATATATATGGCTTTTATATCAGTGCTGGGGACAAAAGGTGAACAGGGAATGGGATACAACTGAGCATGGGTAGAAACCCTAGAAGGTCACCTCTGCTACTCATTTGGAATGGATGCCCTTTGTTTCTTAGCATTCATAGAGAGAAGCCCCCTAATGGTAGGACGGGTCCTTCCCATAGGTCTCCCTGGGCCACTCCAGCTACCTATCAGCTCTCCAGCATGGAGGGCAGAGGGCCAAGGGAGCAAGGAGTGGGAGTCGGGGGAATTCCAGTGCTCCCCTATATCTCCTCCCAAGGGATCTCAGCCATCTGTCCCCCATCCTCTTCTTACCACCCCCTTCTTACCTGGACCTCAGGAGAACTAAGAACATTTAAACTTTCCTTTTAAAGTTCTCTGGCTCTGCACAGATAACGTGTCTTCAGACAGTGTTGCTCCACTTAAAAGAGAAACAGAAGCAAAAGCACAATGGGGAATAAATGCAAATGAACTTGGCTGCTTATATTCTGGAAAGGGAGAAAGCATCTGTGTTTCCCACTGGATGGGGTGAAGATCCAGGAGTTTAATTTTGGTCTTTCTGGTAATGGGACTTCTGTTTCTTCATAGTTTGATATTTATTGTCAATAAGAGTGAGATTTTGGGACTGAGAGTCCCTGTTAGTCTGACCCAACTAGTGAATAGCTCATATCCATGAATGTCCCAGGAACTACACTTCTGGGGAAACCATGACTGGCAGGAGGAAGTATTTGATGGCATCGTTTGGTCCTAGTTCTGAACACATCCAGTCTTCACATCTTGCTGCCTCCCAAATAGCCACCAACAGGAGTATGAAAGCCCCGATATCTGAACAGGATCCTGAGACTTTGCCATAGATGAGAGAAGATCTCCCACTTAGTGGACTTCTTCATGTCAGGGTCCCCAAAGAGCCTTCTTTTCCCACACAACTTTACTGTCCATGGCTCATTCCAGGAATGAAGAGAGATGCTCAAAGAGACACACACACACACACATTCCAGGAATGAAGAGAAATGCTCAAAGACACACACACACACACACACACACACACACACACACACATACACACACACACACACACACACACACACGATCATTGGCCACTGTGATGCCTTCCCTGTCAGGAAGCAGGATGTGCTGCCATTTTGTTGGTCCAGAAGGCTCAAAAAACAGGAACTGCTGCAAGTTTGTGCCAGTAGAGAGCCTCGCTTGGGGTGAGGCAGATGTGAAGCTTTGAAAGAGTCGAGGGAACTGTGACAGGGCATGCAGCAAGGACAGCTCCTGGGACCGTGAACAGAGCCAGGCTTCTCTTTCACCTCTTAGGGGACTCTCCTCACACAGCCATCAAAGGGAAGTTGGTCTTTAAAAAGAGAAAAACAAGGAAAAACAAGGACACAACCACCCAACAAATGAAAGAAAAAAGAAAACCTCTAAGGTTGCATAACTGAGGTATTGATAGCTCTGGATCTTGTCAGTGTCCGTGAAAGGTGTGGGGTCCCAGCCGCTGCTGTCTACTTGTTCTTGCCCAGGAGTGCATCCACCTCCTCCTCAGGCTTGAGCGAGTGCCACTGGGCGATGGGCCTCCGGGGGTTGGCCAGCATGTCGGACCAGTGCCGCAGCTCTGTGCCCGTGGCATTGCTGCCCACGAAGATCTTGCCTATGGCTTCGTTCTTGCCCGGCTTGTCATAGTCCAGCACGGTGACCACTACCTGGACTTTCTGCAAGGAAAACGAGGGAGGGAGTTGGCAGACAGAGACGTGGGATCCCATGACCAAATTTATCCTCCATCAACCTCTACTCCCAATGATTGGGAAGGTAAGGCCTCCTGGGGCTCCTTGGTTTCATCTCTGCTCCAGTGAAGACTGAATTGACATGGAGGCAGAGGCCACGCCTTTGGCAGCCTTTGTTTCTACCACTGGGCATTTATTGAGGATGTACTGTGCTCTAGACCCTGTTAAGCACTTGGAGGGGGAGAAGAGGGAAGGAAAAGTGAAAAGATGAATTTCACTTCCTCAATGAGATCAGCAGACATGTAACTGAAAACTTACAACATGAATTGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGG
Task1_train_2530
This genomic variant is located on Chromosome 1, within the SYT2 (synaptotagmin 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Congenital myasthenic syndrome 7
TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGGTCCTTCAAGTCCTAAACGAATGATTTGCAGAATTTTTTGAATTAGTTCATGTTTATCTCCTCAGAAAAGGGGGATCCCTGAAGCACTTGGGAAGGAGGCCCCACCCAGGCACCATTAGACCTCGAGCCTTCCCCTACCAAGAAAGGCTGTTCCATGGTCTCTAGGTGAGTTCCCTCTCTTCAACCTCCCCATACATGTTTGCCTCCCCAAACCCTGCTCCATGCCTAGGAACCCAGGGCTCCAGCACCTGAATCTGCTCGAAGGGGATCTCAAAGCTGAAGGACTCGTTGAAGTATGGGTTCAGGGTCTTCTTCTTCACGGTTGTCTTCTTCTTCTTGAGCCTCTTGCCATTCTGCATCAGGTGGATCTTCACGTACGGGTCTGCGGAGGGAGAATCCCAACCCCAGAGAGGTTCCCCTTAGCCCCCAGCCTTCCTGCCGAATGTACCAAGGCCTGCCCAGAGCATCGGTCAAGAGGGGGTCTTCACTCCGCTGAGACCAGGCCCTCAGAAAGCCCCAAGTCATGCCATCCAGTTCAAAGGTGGCAAAAGGCTTCACCTCCAGGACCAACTGTGACCAGTTGGTTGTGGCTTCCTGAAGCATTGGGTGGAGGGCATTTCTGAGTCTAAGTAAGGCCTTGTGAGAAAGAGTCTGGGGATTCATCTGTGATCCTGTACTGGGGAGTGGGTGGGGAGTGCTGAAGTCAGGACACACATCTGCTGGGTCATAATCCCAATCCGATCCCCCTAATCTTGCAGACAAGAAACTGAGGCCAAAGAACGGAAATGACCTGCCCGAGGTCACACAGCGGGTCAGTGACAGAGCCAGGCTGGCACTGAAACGCGCTGGTTGGAGCCCATGCCCAGGGCTGATTCTCTGGGAAGGCAGCTGAGGCAGCAGGCTTCATCCACTAGAGCCCTGTGCCATGGGCCAGCCCCATTCACTGCCAGGTAAATGTGATATTCAGAGCATCTTCCACTCCCTTGCCTCACCCTCCCCTTTCCAGGGCAGAGCCAGCAGAGCCTACAGCCTCTTCTGGAAACATGTCTCGATTGTGGTGTCATGCTTTGGGCTAAGCCCTGCTCATTTCCCTGGGAGAAGTAAAATCCTAAGTCACAAACTTATCTGGGGATGAAATTTCTCTGATCCTTTTCTCTGTAGCCCACAGTGCATGGCCAGAGAGCGCTGGGAAGGCAGCTCTGATGGGGACAAGGGGCCCTTGGAGAAAAGGAGGGCCTGGGAAGCTAAGGCTCCCCCGCTCCTCGAGGAGACATCTCAGTCCCAGGGCAGCAAAGTGTTCCTCTTCACTGGAGTGTGCAAACTCTGGGACTTGGTGCTGACTGGCTCGCTGGTGCCACCCAATGGCAGCCAGAAGCTCTCCACGTACCTGAAAGGCCGCCCACGTCCATCTTCTTGAGGTTCTTAGCCTCCAGGATGCAGACAGTGAGCTTCCCGGCCGTGGGCACATAGCGCAGGGAGGTGCAGATGTCGCCCAGCTTCTCCGGCTGTCCAGGGGAAGAGCAGGACTTGGGTCATCTCACCCATCCTAGTGCCTCTCTCATGGCTGACCTCTTTCTTGCCAAAATTAGCAAGGCAGTGATGTGTCCCTGCCTCCCTCATCACCAGTCCCCATATATGTGATGGCCGAGAAGGTCTTCCAGCATCTGACCTTGGGTCCCCCTGATGCAGTGCAACAAAGTCCCTGAAAGTGACAGGTTGGGACCTCAGGAGCCGTGGGCTGAGGATGCTGACAGATGAGGGGGGTAGAGGACAGCTGCGGTGGCAGGACTGAGGGAGGGATCCCTGGGTGGATCTGGGATCTGGGAGGTTGGGAGTATGTTTGGGCTCCCACCCCAGGCCCTGGTAAGGTGGGAAGGTGTGCGAGAAGCGGGTGGGTTAGCCACGTGTCCACCACCAAGGGCCCTGGGGGACTGAATGTCTCAGAAGCCTTCTTTCCCTTAACAGTCCCACCCACCAAGATCTCTCCTTGTGGACCATTCCACTTGTAGTATGATTTGTGGTTTTCGGAGCAATTTGCATCCCTTTTGTTACTATCACTGCAACTCTTTGATGTAAACAAGACAAGAATTCTTTGTAACCAATGAGAAACTGAGGTTCCCAGAGGCCATGGTTTGCTCAAAGTCACACAACAATTTAGCACTGTAGGCAGGCTGAGGACCCAGGGCTCCTAATTCCTAAGGCCAACACCACACTGCAGAGTCAAAGCTGCTCAAAGTCAAAGCCACCCAGGGCAAGACTGACGACATCACACAGGTCCTGGTTCAGGTGTGCTGGCCTTCCTCCCAGGCACAGGGGACAAAAGGGAAAAAAGGATGTCTTAAGCTTCTCTACTCAGCCCTCCATCACTGCCTAGAGTGTGCCAGGTAGCAGGGCCCTGGCCAAGACAAATGATTGATGCCCAGAAGGAA
TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGTCTTTCAGGCAAGCAGTAGGGGACTCCTGACGACTTTAAGAAAAGGAGTGTCGTGGACATTTGAGAGAGAGAGCCCTGGCATTGAGTTGGAAGATTTACTGGAGGAGGAGTGGGCCTAATGGCAGGGAAGAGACCCATTGGAGGATGCTGGAGGGTCTGGGAGGATGGATCCCGAATACCTGTACCAAGGCAGGGACAGTGGGGATGGGAAGTCAAAACCAGGTTGGAGAGGTATTTAGGAAGAGAATCAAGAGGACTTGATGATCAGCTGGATTTGCTGAATGCTCGATGCCTTTTTCCCCTGTGACTCCAGCCAACTCAGATTTGTCCTTCAGGACCAAGCTCTCTCTGGGAAGCCTCACTACAGTCCTCCGCTTCATGGACATTGAAGCTGTCGTCTCACTGTGCTTTACTAGACTGTTTACTGGTGCCCTCCCACTGTGAGGTCCTTGAGAGCAAGGAGTGTGTGGATTACACACTTATTTCCTCATCCCCTAGCCTACCACTTAGGAAATGCTCAGTAAAGTATGTTGGATAAATGAGAAAGGAAAAAGGAAATAGTCAGTCTAAGGTGACGCCCAGGTTTCTGACTTGGGCCACTGGGTAAATGATGGACTGTGGGGTCATTCATTGAAAACAGAATTCAGATGAAACAGGCTTGGCTGGGAAGAGGTAGGAAGAAGAACATTACATTGGTTTTAGGCATGTTGAATTTGAGATGCCTGGGTCAGGATGCTCTAGATCTAAAATTCTCTGTAATGAGGACTTCTCTTGGATTAACATTATCACTGAGCTGCCCAGTGTTCCCTTGAAGTATTCCATCAATAACATCATACACATCTCCATAGATGACAGAACCAACTCTGAAGATTCTCTTGTACCCTTGCCCCCAGCCCTCCTGCGGGGAGGAGAGGGGGTGGGATCAGCTCACTACAAAGAAGGAGAGACCAAGACTCCATGATAACCGACCACTCTGCAAGCCCCCAGCTGCGCCTGACTTCCCGCCCAAATGGGTGGGTGGGTGGGTCTCTTGTCCTACCACGTCCAGATCCCACTCATACCTGGAAATGGTGAAAACCAGACCTCATCTCCAACATTTACAGAACTTGCTGGTGAGAAGGAAGGAAAAATAGAGAAGGCTGGAAGGGTGGAGGGAGAGAGGAGAGGAAGCAGATCAGAGGAGTAGATGGGAAAGACCTAGAGAGCAGTGGAAGTGGGGCAGGGATGGCCAAGACAGGATGTGGCTGGAGAGGATGGAGGTGGCAGCGGCCACTCCCACCCTCTCAGCCAGCTCCCAACCCCTCTGGCACCTTTGCTATACCCCCATACATCTGTGTGCATGACCATGGTCCTTCAAGTCCTAAACGAATGATTTGCAGAATTTTTTGAATTAGTTCATGTTTATCTCCTCAGAAAAGGGGGATCCCTGAAGCACTTGGGAAGGAGGCCCCACCCAGGCACCATTAGACCTCGAGCCTTCCCCTACCAAGAAAGGCTGTTCCATGGTCTCTAGGTGAGTTCCCTCTCTTCAACCTCCCCATACATGTTTGCCTCCCCAAACCCTGCTCCATGCCTAGGAACCCAGGGCTCCAGCACCTGAATCTGCTCGAAGGGGATCTCAAAGCTGAAGGACTCGTTGAAGTATGGGTTCAGGGTCTTCTTCTTCACGGTTGTCTTCTTCTTCTTGAGCCTCTTGCCATTCTGCATCAGGTGGATCTTCACGTACGGGGCTGCGGAGGGAGAATCCCAACCCCAGAGAGGTTCCCCTTAGCCCCCAGCCTTCCTGCCGAATGTACCAAGGCCTGCCCAGAGCATCGGTCAAGAGGGGGTCTTCACTCCGCTGAGACCAGGCCCTCAGAAAGCCCCAAGTCATGCCATCCAGTTCAAAGGTGGCAAAAGGCTTCACCTCCAGGACCAACTGTGACCAGTTGGTTGTGGCTTCCTGAAGCATTGGGTGGAGGGCATTTCTGAGTCTAAGTAAGGCCTTGTGAGAAAGAGTCTGGGGATTCATCTGTGATCCTGTACTGGGGAGTGGGTGGGGAGTGCTGAAGTCAGGACACACATCTGCTGGGTCATAATCCCAATCCGATCCCCCTAATCTTGCAGACAAGAAACTGAGGCCAAAGAACGGAAATGACCTGCCCGAGGTCACACAGCGGGTCAGTGACAGAGCCAGGCTGGCACTGAAACGCGCTGGTTGGAGCCCATGCCCAGGGCTGATTCTCTGGGAAGGCAGCTGAGGCAGCAGGCTTCATCCACTAGAGCCCTGTGCCATGGGCCAGCCCCATTCACTGCCAGGTAAATGTGATATTCAGAGCATCTTCCACTCCCTTGCCTCACCCTCCCCTTTCCAGGGCAGAGCCAGCAGAGCCTACAGCCTCTTCTGGAAACATGTCTCGATTGTGGTGTCATGCTTTGGGCTAAGCCCTGCTCATTTCCCTGGGAGAAGTAAAATCCTAAGTCACAAACTTATCTGGGGATGAAATTTCTCTGATCCTTTTCTCTGTAGCCCACAGTGCATGGCCAGAGAGCGCTGGGAAGGCAGCTCTGATGGGGACAAGGGGCCCTTGGAGAAAAGGAGGGCCTGGGAAGCTAAGGCTCCCCCGCTCCTCGAGGAGACATCTCAGTCCCAGGGCAGCAAAGTGTTCCTCTTCACTGGAGTGTGCAAACTCTGGGACTTGGTGCTGACTGGCTCGCTGGTGCCACCCAATGGCAGCCAGAAGCTCTCCACGTACCTGAAAGGCCGCCCACGTCCATCTTCTTGAGGTTCTTAGCCTCCAGGATGCAGACAGTGAGCTTCCCGGCCGTGGGCACATAGCGCAGGGAGGTGCAGATGTCGCCCAGCTTCTCCGGCTGTCCAGGGGAAGAGCAGGACTTGGGTCATCTCACCCATCCTAGTGCCTCTCTCATGGCTGACCTCTTTCTTGCCAAAATTAGCAAGGCAGTGATGTGTCCCTGCCTCCCTCATCACCAGTCCCCATATATGTGATGGCCGAGAAGGTCTTCCAGCATCTGACCTTGGGTCCCCCTGATGCAGTGCAACAAAGTCCCTGAAAGTGACAGGTTGGGACCTCAGGAGCCGTGGGCTGAGGATGCTGACAGATGAGGGGGGTAGAGGACAGCTGCGGTGGCAGGACTGAGGGAGGGATCCCTGGGTGGATCTGGGATCTGGGAGGTTGGGAGTATGTTTGGGCTCCCACCCCAGGCCCTGGTAAGGTGGGAAGGTGTGCGAGAAGCGGGTGGGTTAGCCACGTGTCCACCACCAAGGGCCCTGGGGGACTGAATGTCTCAGAAGCCTTCTTTCCCTTAACAGTCCCACCCACCAAGATCTCTCCTTGTGGACCATTCCACTTGTAGTATGATTTGTGGTTTTCGGAGCAATTTGCATCCCTTTTGTTACTATCACTGCAACTCTTTGATGTAAACAAGACAAGAATTCTTTGTAACCAATGAGAAACTGAGGTTCCCAGAGGCCATGGTTTGCTCAAAGTCACACAACAATTTAGCACTGTAGGCAGGCTGAGGACCCAGGGCTCCTAATTCCTAAGGCCAACACCACACTGCAGAGTCAAAGCTGCTCAAAGTCAAAGCCACCCAGGGCAAGACTGACGACATCACACAGGTCCTGGTTCAGGTGTGCTGGCCTTCCTCCCAGGCACAGGGGACAAAAGGGAAAAAAGGATGTCTTAAGCTTCTCTACTCAGCCCTCCATCACTGCCTAGAGTGTGCCAGGTAGCAGGGCCCTGGCCAAGACAAATGATTGATGCCCAGAAGGAA
Task1_train_2531
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?
Pathogenic; Intellectual disability, autosomal recessive 65
GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATTTTTGAGCGAGCCTTCAGCTCATGTAGAAGTGAGCTAGTGATTTATGAGCAATTCTATGTATAATGAGCTAGATTACAGTTCATTATTAGTCAGTGCTAAACTGAATGTATTCCAGAAAATCGCAGTCAATGCCGCCCCGGATGTTACTACCATCTTTATAGTATGATCATGTATTTCCTCATTTATTAACTAACACTATAAACTGACTTCAGAAGATATTTTTATTGTCAGACACTAAGTTAAACAATCTTATTTAAGGTACAAATTTAAGTTTAAACTTGGGGGTAAAGGGGATTAAAGAAAGGAAGGGAAGAAGGAAAACAGGAAAGAAAAAGGAGAAAGGGAGATGTCACTCACAGCATTGGTGGCTTTTTTAGATCGACTCTTGGGCTTTTCCTTCTCATTTTCTACAATATAATCTTTCCTCTCAATAGGTTCTTGCTTGATGCTACTCTTCATTTCTTTCTCTGTAGGAGGCAATCCAAAATTAGCTCTTTATGATGCTTTTCTCCACTTCCTCATCATCTCCCTCCCAAAGCACATACTGTACACAAACATAATTTCATGTGTGTTTTCACATTTTAGTAGCAATAGCACCCAGTATACTTTATTCAAGGGCTCAAATGCTGATTACTTTATGATAAAATGCAAACTCTTGTGCCATTTAAATTTCAAGATGTAGATTACTTCTGGAGATGTCCCTCAGGTTTGTATGCTTTCAAAATAGGAATTAGTTTTCTCAAGACCAAGACATAACATATACCGATGAAATCAAATTCCTGTTGGCCATGACTACAAGAGACCAACAGTTCACCAACTATATCTCCTCCACATAACACATTATCTCTCCATGATCTAAGATGACTTCCTGGTCATCCTCCTGGTCTCCAAATTCCTGGTTCTGAAGACTGAGAAGTTTGGCGAAAACACTGGCTATCAATTACTGAACTATCATGTGGTAGGCATTGTGCTCAATGCTTTCCATAAAGTATTTAATCCTTCACAACAAACCCATTTCAAAGGTAAGAAAACTGATGTTAAAGTAAATCAAGAAACATCTCTAAGGTTACATAACTAGTTAGCGGTTGTGCCAAGATTACTGTATTACTTTATATTGTATCTCTATTACTTTCCTGTGCATTGTGCTGCCTTTCCACTAGTTCACTAATCCCTAGGTTGAACAAATTTTAGTAACTTCTTAATTTGTATGTGCCTCCTATATAGGATATAAGATTTCTCTTAAAAGAATCTCAAATCCACCTCTCAGTGACTTACATCAAGTGATACCCAGGCAAGCAATTAACCACAATTCAGATTTAGGAAGCATGTCTGTTTGCCTTGCCTGAAATAAATCTATCAGACATTCGGTCAAAGGCACCTATGTTTTTCACAAATTACTTAAGTAACTGCATTGAATCAAATTTCAAAGTAGCAACTTGCTACAGCTGAGAAACTCATCCACACTCCTAATATGCATACATATAGTTTCTGTTTCTCTCTCCCACTAGTCAGTTAATTATGAGAACAAGGACACTGTTGATATATTAAGATTTTCTCAAAGCCCAACCCAGTGACTACTATGTACTGGCTGCTCTAAATTTTACTTTTTAATTTTTTTCTATTGAATTTTCAGCTTATGTTTACTTATGAATAGTTATTTTTACTTTATTTACTTTTTCTTTCCTATTCATTGACAAATTTTCTTACCATTTTCACATTTTGGAGTTGGACAACCCATTCGACGTCTCAGATTATGAGTTCTGGCTTCCGTTGTCTCCTCGGGTTCTATTTTAATATTCATGGCCTTAAAAAAATTGTCATATACATGAATATTTCCTTTAAGAAGAAATAATCTTTAAAAATCCAACTGGAATCTCAAGGTGACTATATCCTACCAATTGCCTCTATTAACAGGGCATTCAAAACATACTTCTCTCTCTTCCTAAGGAAGAGAGCTCACCTTTGAAACTACTATTAAAGCATGAATGAGAAATTTAAAAATAGGGAAAAGTTGGCCAGGCACAGTGGTTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAACAGTGAAACCCTGTCTCTACTAAAATTACAAAAAGTAGCCGGGCATGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAACAAACAAACAAACAAAAAAACAAATAGGGAAAAGTCAAAGGATCAAGAACAAATTGTGGCTGGGCGAGGTGCCTCACACCTGTAATCCCAGCATTTTGGGGGGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGATCAGCCTGCCATAATGGCAAAACCCCATCTCTAACTAAAAATACAAAAATTAGCCAGGTGTTGTGCACACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCATGAGATTTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCACACCACTATACTCCAGCCTGGGCAACAAGAGCCAATCTCTGTCTCAAAACAAAGAGAAGTGTTTCTATTCAAATTCGGAAGAACAATTCTTATTTTCCTCCTAGAAGGTTCTTGGTTCTTATCTATTTGCTTTATGCTTTATTCAATCATCGCAATAAGCCAAATCCTAAGTAGTTATATAAATGTCATAACTCCATTAGCCTCTAAGAGTTTGCTGACCTATTCCAAGGTCTGTCAGTATTTACAGAAAATTTTGCTTCCACAATAATTTTCCATAAATTATTTTAATAAACTATTATTATAAACTACACACTTCTAACATCACTAAACTATTAAGGGCTCCTTCCTCATTGAGGGTATAGAAGCCAATCTCAGTTTCTATTATTTCTTAAAGTGCTGATACTTATTGGTAAAGCAAATAAAACCATTTTTTGTGGTAATACTGAAGTATCTGTGGAACTGTGCTTTCTCACTTTGCCTGTGTTTATTCATACATTTTAATGATGTCCACTGCTAAAAGAGTTTATTCCATGGGCAATATCATTACTATCAGGTGTCATCAAGGCAGATGTAGGCATCCACAGCACTGGGGCATTTCTTATATACACATGTATAAGATCAAGAATATGCTCAAGAAAGAACTGATTCATAGATTAATTTACTTTAAACATGCTTATGGGCTTCAAATAACCATATTTTCCTATTCTGGGCAGTCTCCTTCATTCAGAAAAAGTGAATCACTAAATTTTTTTCCTATCTCCAACTTACCAAAGTGAAAAACTATTCTCTTATTTATCTATTTCTTCAGAAAACAAAATGGCTGATTTTTTTCATTTTTGATAATTATTGAAAACCAGTTACTGATTTAGTATGATTAATGCAATATGAGGCTTCCCAGCTCTAAACAGTTCCCTATATATTATCTCTGAGTCCTAAAACTCACATATCCATCAGGCTAGGCAGGAATCCAAAACCTTCATACCTCTGGTATGGGAACGAGATCACTAGAAAAATACTCTTCTTCCTTTCCCAGGGAAAGCTTCTCAGAGCAGAAAAATCTTAAAGCAAATAATCCTTCTCTAGCCTGGACAACACAGTGAGACCTTGTCTTTATTAAAAATTTTTTTTTAATTAGCTAGGCATGCATGGCATGCATCTGTAGTTCCAGCTACTTGGGAGGCTGAG
GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATTTTTGAGCGAGCCTTCAGCTCATGTAGAAGTGAGCTAGTGATTTATGAGCAATTCTATGTATAATGAGCTAGATTACAGTTCATTATTAGTCAGTGCTAAACTGAATGTATTCCAGAAAATCGCAGTCAATGCCGCCCCGGATGTTACTACCATCTTTATAGTATGATCATGTATTTCCTCATTTATTAACTAACACTATAAACTGACTTCAGAAGATATTTTTATTGTCAGACACTAAGTTAAACAATCTTATTTAAGGTACAAATTTAAGTTTAAACTTGGGGGTAAAGGGGATTAAAGAAAGGAAGGGAAGAAGGAAAACAGGAAAGAAAAAGGAGAAAGGGAGATGTCACTCACAGCATTGGTGGCTTTTTTAGATCGACTCTTGGGCTTTTCCTTCTCATTTTCTACAATATAATCTTTCCTCTCAATAGGTTCTTGCTTGATGCTACTCTTCATTTCTTTCTCTGTAGGAGGCAATCCAAAATTAGCTCTTTATGATGCTTTTCTCCACTTCCTCATCATCTCCCTCCCAAAGCACATACTGTACACAAACATAATTTCATGTGTGTTTTCACATTTTAGTAGCAATAGCACCCAGTATACTTTATTCAAGGGCTCAAATGCTGATTACTTTATGATAAAATGCAAACTCTTGTGCCATTTAAATTTCAAGATGTAGATTACTTCTGGAGATGTCCCTCAGGTTTGTATGCTTTCAAAATAGGAATTAGTTTTCTCAAGACCAAGACATAACATATACCGATGAAATCAAATTCCTGTTGGCCATGACTACAAGAGACCAACAGTTCACCAACTATATCTCCTCCACATAACACATTATCTCTCCATGATCTAAGATGACTTCCTGGTCATCCTCCTGGTCTCCAAATTCCTGGTTCTGAAGACTGAGAAGTTTGGCGAAAACACTGGCTATCAATTACTGAACTATCATGTGGTAGGCATTGTGCTCAATGCTTTCCATAAAGTATTTAATCCTTCACAACAAACCCATTTCAAAGGTAAGAAAACTGATGTTAAAGTAAATCAAGAAACATCTCTAAGGTTACATAACTAGTTAGCGGTTGTGCCAAGATTACTGTATTACTTTATATTGTATCTCTATTACTTTCCTGTGCATTGTGCTGCCTTTCCACTAGTTCACTAATCCCTAGGTTGAACAAATTTTAGTAACTTCTTAATTTGTATGTGCCTCCTATATAGGATATAAGATTTCTCTTAAAAGAATCTCAAATCCACCTCTCAGTGACTTACATCAAGTGATACCCAGGCAAGCAATTAACCACAATTCAGATTTAGGAAGCATGTCTGTTTGCCTTGCCTGAAATAAATCTATCAGACATTCGGTCAAAGGCACCTATGTTTTTCACAAATTACTTAAGTAACTGCATTGAATCAAATTTCAAAGTAGCAACTTGCTACAGCTGAGAAACTCATCCACACTCCTAATATGCATACATATAGTTTCTGTTTCTCTCTCCCACTAGTCAGTTAATTATGAGAACAAGGACACTGTTGATATATTAAGATTTTCTCAAAGCCCAACCCAGTGACTACTATGTACTGGCTGCTCTAAATTTTACTTTTTAATTTTTTTCTATTGAATTTTCAGCTTATGTTTACTTATGAATAGTTATTTTTACTTTATTTACTTTTTCTTTCCTATTCATTGACAAATTTTCTTACCATTTTCACATTTTGGAGTTGAACAACCCATTCGACGTCTCAGATTATGAGTTCTGGCTTCCGTTGTCTCCTCGGGTTCTATTTTAATATTCATGGCCTTAAAAAAATTGTCATATACATGAATATTTCCTTTAAGAAGAAATAATCTTTAAAAATCCAACTGGAATCTCAAGGTGACTATATCCTACCAATTGCCTCTATTAACAGGGCATTCAAAACATACTTCTCTCTCTTCCTAAGGAAGAGAGCTCACCTTTGAAACTACTATTAAAGCATGAATGAGAAATTTAAAAATAGGGAAAAGTTGGCCAGGCACAGTGGTTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAACAGTGAAACCCTGTCTCTACTAAAATTACAAAAAGTAGCCGGGCATGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGCTGCAGTGAGCTGAGATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAACAAACAAACAAACAAAAAAACAAATAGGGAAAAGTCAAAGGATCAAGAACAAATTGTGGCTGGGCGAGGTGCCTCACACCTGTAATCCCAGCATTTTGGGGGGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGATCAGCCTGCCATAATGGCAAAACCCCATCTCTAACTAAAAATACAAAAATTAGCCAGGTGTTGTGCACACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCATGAGATTTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCACACCACTATACTCCAGCCTGGGCAACAAGAGCCAATCTCTGTCTCAAAACAAAGAGAAGTGTTTCTATTCAAATTCGGAAGAACAATTCTTATTTTCCTCCTAGAAGGTTCTTGGTTCTTATCTATTTGCTTTATGCTTTATTCAATCATCGCAATAAGCCAAATCCTAAGTAGTTATATAAATGTCATAACTCCATTAGCCTCTAAGAGTTTGCTGACCTATTCCAAGGTCTGTCAGTATTTACAGAAAATTTTGCTTCCACAATAATTTTCCATAAATTATTTTAATAAACTATTATTATAAACTACACACTTCTAACATCACTAAACTATTAAGGGCTCCTTCCTCATTGAGGGTATAGAAGCCAATCTCAGTTTCTATTATTTCTTAAAGTGCTGATACTTATTGGTAAAGCAAATAAAACCATTTTTTGTGGTAATACTGAAGTATCTGTGGAACTGTGCTTTCTCACTTTGCCTGTGTTTATTCATACATTTTAATGATGTCCACTGCTAAAAGAGTTTATTCCATGGGCAATATCATTACTATCAGGTGTCATCAAGGCAGATGTAGGCATCCACAGCACTGGGGCATTTCTTATATACACATGTATAAGATCAAGAATATGCTCAAGAAAGAACTGATTCATAGATTAATTTACTTTAAACATGCTTATGGGCTTCAAATAACCATATTTTCCTATTCTGGGCAGTCTCCTTCATTCAGAAAAAGTGAATCACTAAATTTTTTTCCTATCTCCAACTTACCAAAGTGAAAAACTATTCTCTTATTTATCTATTTCTTCAGAAAACAAAATGGCTGATTTTTTTCATTTTTGATAATTATTGAAAACCAGTTACTGATTTAGTATGATTAATGCAATATGAGGCTTCCCAGCTCTAAACAGTTCCCTATATATTATCTCTGAGTCCTAAAACTCACATATCCATCAGGCTAGGCAGGAATCCAAAACCTTCATACCTCTGGTATGGGAACGAGATCACTAGAAAAATACTCTTCTTCCTTTCCCAGGGAAAGCTTCTCAGAGCAGAAAAATCTTAAAGCAAATAATCCTTCTCTAGCCTGGACAACACAGTGAGACCTTGTCTTTATTAAAAATTTTTTTTTAATTAGCTAGGCATGCATGGCATGCATCTGTAGTTCCAGCTACTTGGGAGGCTGAG
Task1_train_2532
An alteration has been detected in ADIPOR1 (adiponectin receptor 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACCACGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCACCCGCCTCAGACTCCCAAAGCGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCCTGAGAATCTCCTAATTATTGAACACTACTATAGCATACTGATTTCTCTAACAAGATGGTCTGTTCTTTTCAAATGGCTCTATGAAAAAAAAAAATTTAAAAATGTAAAAAGATAATCCATGCAACAATTACATAAAAAAGTAAAGCTGTATTGGGGAATGGATGCTAGGAATTCAATTAGGTCCATTTATTGGCCTGCATGTGCCAGCCTGTCAATGCCTATGATTCAAATTTGTGCCTCAGGAGAATCTGAAATTATCACAGGTCTTACTTAATGTTTTGGAGTTGTGTGCAAATAATCAAGACCATACATGTGAAATCTTTGAATGCCAAGTGTCTTCTGTACTTTCTTTTATTAACATCATAGTCTTTGCATCAAGATACATAGCAATGATAGCAGGTTTCTTTTTAAAGCTTAGTATTAAATATTAAATATCTTTCCCCATTTAAATTTTACATTACTCTGCCAAGAAAAAAAAAAAATTAAAACTCAAGTTACTTGAAGCCTGGACACACTTCCATGATTAGCCGGGCTAGGTAAAAGTTGGTGGCTTTATTCTTCCTGCTCTATAAGCAGATCCAGGCCCTAGAAAGATGGGACCAGGGTATATAATTGTTTTTGAAAAGTGTGCTACAAAAATGGATGGCCTGTTATAAGCCAGGATACAAAGTTAAGGATGGGGGTAAGGGAGGGACATTTTCTTCCAGAAGAAAAGACAGAATTTCTGAAGAGTCCCAGTCCATAATTTTCCCAAAATGGTTGGAGGAGAGGGTAAAATCTCAACATGAGTTTCAAAGTACTGTCTCTGTGAGGGGCCGGTAGATGCCTTGCTGAGGAGGGGATGGCTAAGTTTGACCATGCCCCATCCCCAGCTAGGAGAATGGAAATGGAAAGTTTATTGCCCAGTGGGTGTGAAAGTGGGCTGAAGCTTGGTTGGTACTGAATTCTCTAAGAGGTTTCTTCTAGAAACAGACAACTCAGACTCTTCCTCTCACTTCAGCAAAGAAGTTATTTTTAAAAGCACTTGGGAAGTTCCTCCTCCACCCCGCAGGTGGGAAGGCTCAGAGAAGGGTGTCATCAGTACAGCCGCCTTCTAGGCCGTAACGGAATTCCTGAAGGTTGGAGACTCCATAGAAGTGGACAAAGGCTGCTGCCACCACCAGGACATGGAAAATCTGATGAGACTGGAACTGTAGGAATAAAAAGAAAAGAGCCTTTAGGATAATGCAAGGAGGAATAAGAAACAAGTAGGAGAAAGCATTTGCTTCTTCTAGTTTATCCTTAATTAAACAAATTTGTTAATAACATTAAAGTGGTATATTTAGAAAGTTTTAAAAACACAGTCCTTGTCAGAGATACACCAAAATGTTAATATTGATGATTTACCTTCAATGCACATATATGTACCTCCAAACACTATATGATCCCAGTCTCATACCACCTTTTCCTCAGCCCTTTAACTTTGGGCTGTTCACTCACCATCACAGGACCTGCTGGAAGATTCATTTCTTACCCATATGTCAAATTTTCCAGGAAAGAAGCGCTCAGGAATTCGAGCAGCATAAAGGCCAGCTCCAGTGATGTACATCACAGCCATGAGGAAGAACCAGCCCATCTGGCCCACTGTGGTGGCCTTGACAAAGCCCTCAGCGATAGTAAAGTGCATGGTGGGCACGACGCCACTCAAGCCAAGTCCCAGGAACACGCCTGAACAGAACAGACATAAGACTGTCAAACAAGGAAACAGCCACCGCATGGAAGGCACTGCTGTCTTACTCTGGAATTTCAATGTTTATGATAATTAGCTATTTTTGGATGAATAGTACATGTTTAGGAAACTTAGCTACAAGATGGATAACACTCAACAGATATTTCTTCTATGTCCTGAATGGGAAGAAGCTGTGTAAGTGCTTACTACCTTTTAAGCACCAAGAACAAAGATCTCATATTCTTCATTATCTGTTAAGGAATTTAGGTAAAAATGGTATGTCAAGACTCTCTGATGGCTAACTTGGGTACAGAACTTAGATGTCAAGGCTTCAGTTGCCTCCCAAGTCAGAGAAGCATAGGATAGGCTTCCTGTTAAGATCATAAAAGTCTTACATAACCAGAACTCTGACCTCCTGAGTAGACAGATATACCCAGATTAGCAGTTATCCTGTAGCTGCTGGGACACACAAGTAAGGCAAGAGCAAGGGAAGAATGGGTATGTGTCTCATCATTACACTACACATAACTGAAGGGCAGGGACCACCTCTCCATCTTTGTAAATACCTTTGTTTAAGCACAGTGCATGGCACGTGGCTGGTGCTTGATAAATATTTAATTATTATTATTTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGATAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCTGCCCCCGACCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGAATTACAGGCACCTGCCACAACGCCGACTAATTTTTATATTTTAAATAAAAACAGGGTTTTACCATGTCGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCCGCCTGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGACAATATTTAATTATTTTAACTGAAGGTTAAAACATAGCAGATATTAATTGTAAAGGGACTAAAGACTAGTGGTAATTGGTGGTGTTGCTGCAAGTAATAAAAGCTTAAAATAAGAGTCCAGATGAGATGAGACAACACAAAGATGTTTATGCTTGTAGCTATTACTTTGTTACCTGTTTATGCTCAAGGTATTTTCATTCACCAAACCAGGTATTCCATTCCCTTAGTAAAATGCCTCTGAGTGTTTTAATTTTAATCCCTTGGTCTGAGCTTGGGACTCGGGTCACTAAAATTACTGTGCTTGCTACATTTTTAAACTGTCACAAACCAAGTATAAGAGTAGCTACATCTGTGCTTGCAGTTAATTGACCAGCTGGGTAATGATCTGTCCTATTGGCATTCTACTGAAATAGTATGACACTGGGGGTTGAGAACTGAGCTTTGAAATTGATGCTGTTTTGAAAGTTCTGAAACACAAATCAGGGTTTGGGTGGGGTTCTCAAGCTGCAAACCTTAAGGCTCAAATAGGTTTGAGCCTATCAGGCCTAAGGTCTAAATACCTCTGAGGTGTACGTACATCTTCCGACCTACCTGCTCTTGTCTGCCGGTGCTTAGGAGTGGCAAACCGGTCCCACTGCGCCACAATGATGGCAGAAATGCCCAGGACACAGACGATGGAGAGGTAGATGAGCCGTGGCTGTGGGGAGCAGTAGAAGGAATAATAGAGCCAGGGGACAAAGCTCCCCATAATTAGAAGAGCAATCCCTGAATAGTCCAGTCTAAAAAGAACCACAAAAATGAAACAAATCAGTGGGGGAAATGAATTTGTATGGCTCATTTAACTAGCTCTTTCTGTTCTCCACCTGCTCCCAGATTTAACCATTCCCTCAATCTATCCTGTATTGTAGACTCCCATACAATCTATCCTGTATTCTGGATTAAAATTCCACAAGGTCACTTCTATTTTACGATGGAA
CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACCACGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCACCCGCCTCAGACTCCCAAAGCGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCCTGAGAATCTCCTAATTATTGAACACTACTATAGCATACTGATTTCTCTAACAAGATGGTCTGTTCTTTTCAAATGGCTCTATGAAAAAAAAAAATTTAAAAATGTAAAAAGATAATCCATGCAACAATTACATAAAAAAGTAAAGCTGTATTGGGGAATGGATGCTAGGAATTCAATTAGGTCCATTTATTGGCCTGCATGTGCCAGCCTGTCAATGCCTATGATTCAAATTTGTGCCTCAGGAGAATCTGAAATTATCACAGGTCTTACTTAATGTTTTGGAGTTGTGTGCAAATAATCAAGACCATACATGTGAAATCTTTGAATGCCAAGTGTCTTCTGTACTTTCTTTTATTAACATCATAGTCTTTGCATCAAGATACATAGCAATGATAGCAGGTTTCTTTTTAAAGCTTAGTATTAAATATTAAATATCTTTCCCCATTTAAATTTTACATTACTCTGCCAAGAAAAAAAAAAAATTAAAACTCAAGTTACTTGAAGCCTGGACACACTTCCATGATTAGCCGGGCTAGGTAAAAGTTGGTGGCTTTATTCTTCCTGCTCTATAAGCAGATCCAGGCCCTAGAAAGATGGGACCAGGGTATATAATTGTTTTTGAAAAGTGTGCTACAAAAATGGATGGCCTGTTATAAGCCAGGATACAAAGTTAAGGATGGGGGTAAGGGAGGGACATTTTCTTCCAGAAGAAAAGACAGAATTTCTGAAGAGTCCCAGTCCATAATTTTCCCAAAATGGTTGGAGGAGAGGGTAAAATCTCAACATGAGTTTCAAAGTACTGTCTCTGTGAGGGGCCGGTAGATGCCTTGCTGAGGAGGGGATGGCTAAGTTTGACCATGCCCCATCCCCAGCTAGGAGAATGGAAATGGAAAGTTTATTGCCCAGTGGGTGTGAAAGTGGGCTGAAGCTTGGTTGGTACTGAATTCTCTAAGAGGTTTCTTCTAGAAACAGACAACTCAGACTCTTCCTCTCACTTCAGCAAAGAAGTTATTTTTAAAAGCACTTGGGAAGTTCCTCCTCCACCCCGCAGGTGGGAAGGCTCAGAGAAGGGTGTCATCAGTACAGCCGCCTTCTAGGCCGTAACGGAATTCCTGAAGGTTGGAGACTCCATAGAAGTGGACAAAGGCTGCTGCCACCACCAGGACATGGAAAATCTGATGAGACTGGAACTGTAGGAATAAAAAGAAAAGAGCCTTTAGGATAATGCAAGGAGGAATAAGAAACAAGTAGGAGAAAGCATTTGCTTCTTCTAGTTTATCCTTAATTAAACAAATTTGTTAATAACATTAAAGTGGTATATTTAGAAAGTTTTAAAAACACAGTCCTTGTCAGAGATACACCAAAATGTTAATATTGATGATTTACCTTCAATGCACATATATGTACCTCCAAACACTATATGATCCCAGTCTCATACCACCTTTTCCTCAGCCCTTTAACTTTGGGCTGTTCACTCACCATCACAGGACCTGCTGGAAGATTCATTTCTTACCCATATGTCAAATTTTCCAGGAAAGAAGCGCTCAGGAATTCGAGCAGCATAAAGGCCAGCTCCAGTGATGCACATCACAGCCATGAGGAAGAACCAGCCCATCTGGCCCACTGTGGTGGCCTTGACAAAGCCCTCAGCGATAGTAAAGTGCATGGTGGGCACGACGCCACTCAAGCCAAGTCCCAGGAACACGCCTGAACAGAACAGACATAAGACTGTCAAACAAGGAAACAGCCACCGCATGGAAGGCACTGCTGTCTTACTCTGGAATTTCAATGTTTATGATAATTAGCTATTTTTGGATGAATAGTACATGTTTAGGAAACTTAGCTACAAGATGGATAACACTCAACAGATATTTCTTCTATGTCCTGAATGGGAAGAAGCTGTGTAAGTGCTTACTACCTTTTAAGCACCAAGAACAAAGATCTCATATTCTTCATTATCTGTTAAGGAATTTAGGTAAAAATGGTATGTCAAGACTCTCTGATGGCTAACTTGGGTACAGAACTTAGATGTCAAGGCTTCAGTTGCCTCCCAAGTCAGAGAAGCATAGGATAGGCTTCCTGTTAAGATCATAAAAGTCTTACATAACCAGAACTCTGACCTCCTGAGTAGACAGATATACCCAGATTAGCAGTTATCCTGTAGCTGCTGGGACACACAAGTAAGGCAAGAGCAAGGGAAGAATGGGTATGTGTCTCATCATTACACTACACATAACTGAAGGGCAGGGACCACCTCTCCATCTTTGTAAATACCTTTGTTTAAGCACAGTGCATGGCACGTGGCTGGTGCTTGATAAATATTTAATTATTATTATTTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGATAGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCTGCCCCCGACCAGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGAATTACAGGCACCTGCCACAACGCCGACTAATTTTTATATTTTAAATAAAAACAGGGTTTTACCATGTCGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCCGCCTGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGACAATATTTAATTATTTTAACTGAAGGTTAAAACATAGCAGATATTAATTGTAAAGGGACTAAAGACTAGTGGTAATTGGTGGTGTTGCTGCAAGTAATAAAAGCTTAAAATAAGAGTCCAGATGAGATGAGACAACACAAAGATGTTTATGCTTGTAGCTATTACTTTGTTACCTGTTTATGCTCAAGGTATTTTCATTCACCAAACCAGGTATTCCATTCCCTTAGTAAAATGCCTCTGAGTGTTTTAATTTTAATCCCTTGGTCTGAGCTTGGGACTCGGGTCACTAAAATTACTGTGCTTGCTACATTTTTAAACTGTCACAAACCAAGTATAAGAGTAGCTACATCTGTGCTTGCAGTTAATTGACCAGCTGGGTAATGATCTGTCCTATTGGCATTCTACTGAAATAGTATGACACTGGGGGTTGAGAACTGAGCTTTGAAATTGATGCTGTTTTGAAAGTTCTGAAACACAAATCAGGGTTTGGGTGGGGTTCTCAAGCTGCAAACCTTAAGGCTCAAATAGGTTTGAGCCTATCAGGCCTAAGGTCTAAATACCTCTGAGGTGTACGTACATCTTCCGACCTACCTGCTCTTGTCTGCCGGTGCTTAGGAGTGGCAAACCGGTCCCACTGCGCCACAATGATGGCAGAAATGCCCAGGACACAGACGATGGAGAGGTAGATGAGCCGTGGCTGTGGGGAGCAGTAGAAGGAATAATAGAGCCAGGGGACAAAGCTCCCCATAATTAGAAGAGCAATCCCTGAATAGTCCAGTCTAAAAAGAACCACAAAAATGAAACAAATCAGTGGGGGAAATGAATTTGTATGGCTCATTTAACTAGCTCTTTCTGTTCTCCACCTGCTCCCAGATTTAACCATTCCCTCAATCTATCCTGTATTGTAGACTCCCATACAATCTATCCTGTATTCTGGATTAAAATTCCACAAGGTCACTTCTATTTTACGATGGAA
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.
Pathogenic; Hypotrichosis 11
TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTTTGGGAAACTCCAGGGGGATGAAAGTGGAATGGATGTTCTTTAGTCTTTAGAAGACCCGTAACGAATGCCCAGCTGGGCACTTGTTGTTTGCGTAAGCACCAGACCTCGCGTTTAGTAAACAAAGGTGAGACGGGAATAGCGTCGTCCGGTTGTTTCAGGAAGCAGAGTCTATGCTGCTTTTGTATTTTTTCCTTAGCCACTGTGGTGCAGAACCTCATCTTCAGATACTTACAAAATGTACGTAAGTTGCTTGTTTCGTAACTACTTTTTAAATAAGAGGTGAACTGATTTAGTTTTTTGTGTTAACCTGAGCGATCGCTGTGTTCTAGAATTTAAAAATAGATGTAACTGGAGATTGGAGGGTAATTGAGGGGAAGGAGTACTTAGAAAGCACTAATGTGATGAAGTGGTGTGTATCCATGCCACTTCCCAACATGCAAAGAATTGTATCCATTACTTTGCAAGATCAAAAATACTTTTTAATTCCAAAAAGTATTATTAGCAGACTTGACCATGGTATTTGGGCATCAGTAGTTTTGTTAGTAGTGATTATGGCTAGAACATTGGAACCTCTCCCCTTTAGGATGAAACATTGGAAGAAAAACCCAGCCAACTTAAACCATGTCAAGAGGTGGTGTGTTTAATACCTGTGGGAAAACTTAAAGACGAAAAAAGGAAGAGAGAAGGGGTAGCTTCAGAGGAGTTTAGTGGCAGCTGCTTTCCTTTGAGGGAAATTTTAGCAACTTAAATTTTATAGTGTGATAACACAACTGAAAAACATTAATTTCAGGTGATAATAATTCTTAACCACCTGAATTGAGGGCTCCTGTCCTAGTTGTTAGGTGTGTGACATGAGAAGGCTTTGTTTTGGAACTGGATTTTGCTGCAGGAGATAAGCCCTTGGTCATTAGAAATTACTGCTTTGTGCTATGCTGTCAAAAACTTTCACTCTTAATAGATTGAGACCAGAAGCAGTAAGAAATATTGAGTCCCAAAATCACAGGAAAATTATTAGCTTATACAGTTCCAATATAGAACTTATTAAATGAAAATTCTTTTTGAGGTTATTATTATTGGTGAATAATTCTTAGATATGGGCTAATTAGTTAAAACTTTTGACTTACATTCATTACAATTTTTTTAGGAGCCATATTTCTCTTGTCGTTTGACCAAAATGGTTAGGTTTTGTATACTTCAATTTTTTGGGGGGCGGGGGGCGGGGAGATCTTGCTTAATGTTGCGCAGGCTTATATTGAACACCTGGCCACAAAGCGAATTATTCCGCTTTGGCATCCCAAAGTATGGGAACGGTGTGAATCGAGGCACCTGGCCTGTTTTTCTTTTCTTTTTTTTGAGACGGAGTCTCACTGTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCGTCCCGAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAACGAGGATGGTCTCTATCTCTTGACCTTGTGATCCACCTCCCTCGGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTATTTTTCTTTTTTTAACGTTTCCACTTTTATGATTATTTCAGAGATCGCGGATTCAGGTGTGGCTCTATGAGCAAGTGAATATGCGGATAGAAGGCTGTATCATTGTGAGTATCCAGGCGATTTCATCTCATAGCAGTTCGGTCGTAGAAAAAGACTTAACAGAAAGTGTCTAGCCAGAACAGTGTATAAAAAGTCAAAGATCCAACCTAAGGAAAGTTTTTCAGGTGCTGCTGTTTAGCCTTTTTTCATTGTTGATAGATAAGGATTGGGTAGTTTTTAATAGGGAAAATAACTTTTAATTCATTTTCTTTCCTCTGTCTATGTTGAGAAGAAAATTTGTATTTGATTTTTGAGAAAGGGCTTTGTTCTGTTGCTTAGGCTGGAGTGCAGTGGCACAATCATGGCTCGTTGCAGCCTCAACCTCCCGGGCTCAAGTAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCAGAAGCGTGCACCATCACAGCCTGCTAAATTTTTATTTTTTATAGAGATGAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACCTCAGCCTCTCAAAGTCTTGGGATTACAGGCATGAGCCACAACGCCTGGCTGAAAATTAACTTTTAAAAATTATTCGAAAAAAAAATATTGAGCGACAATGTTAGTATGGAGAGGGGGGACAAAATAAATGAAATTAGGGAGGGTGGGGTTATTTGTTGTGGGTTAGGTGATACCTGAATAGAGAGCTCAGTGGGGTTAGTTAAATAAGGCTTCTGGGATAGCAGGCTACCCTAAATTTTTTTTTTTAAGTTGGGGTCCGGCTCTGTCACCCAGGTGCTCTCAGCTCACTGCAATCTTGAACTCCTTGGCTCAAGTGATTTTTCCACCTCAGCCTCTAGTAGCTGGGAACTATAGGCATACACCACCAGGTCCAGCTAATTTTTAAATATTTTGCTGGGCAAGGTGGCTCACGCCTGTAATCCTAGCACTTAGGGAGGCCGAGCATGATGAATCACTTTAGCTCCAGAGTTCGAGACCAGCCTGGGCAACATGATGAAACCCTGTTTCTACCAAAAATACAAAAAGTAGCCAGGCATGGTGGTGCGCCCTGTAGTTCCAGCTACTTGGGGGGAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTCCAGCTGCAGTAAGCCGAGGTTGCACCACTGCACTCTAGCCTGGAAGACAAAGTGAGATCCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTGGGTGGAAGGTGGGGTGGGGCTTGAGAAGAGTGAATCTTTGAAGTTAGTTGGAGTTTTTATCTGCATAGGTATACTCATTTAAAATGGTTTGAATGTGATTTTCTTTGAAGATAACAGTTTGTTTATTTTTCTAGGGTTTTGATGAGTATATGAACCTTGTATTAGATGATGCAGAAGAGATTCATTCTAAAACAAAGTCAAGAAAACAACTGGGTAAGGATAGAAGTGGTCTTACAGAATTCTAGAAATATTTTATTCACTTGCAGAATTCAGTGACCTGCAACTCAGTTCATGTTTGAATTTATTTTGCATTTGAGAAGTTATTATTCAGAGTAGTAGTACACTTTTGAAATCATCCTCTACTACTCACTCCTCACCACACTCCATTTTGGCTTCTCCACCCAGAGAGCTCTCACCAAGGGAACCAAAGACTAGTGGTATTAAATCTAATGATCAGTACTAATCCTCATTTTATTAAACTCTCAACAGCATTTGGCACTGTTGGCTGCTCCCTCCTTAAAGCGCTTTGTTCCCGTGTCTGAGTGGCAGGAAAAACCCAAGTAGATTTTTCTGTTTCCTCAGTTGACAATAATTAACACAGAAGACTTCTGTGACCAGATGTATGGGCATATTTCCCCACACACCAAGCAAGCAATCAGTTCGGCAGTGGACATCAGCTCAGAGTCGTCAAGTTCAGTTCAGTTCTAACACTATCTACCTGAGATAGCGTCAGTTCCCAGAGGTTGAGGGCTCAATCCCCAAGATTGCCTTCCATGCCCCTCAGTCCTCCACCAGATGCTAATTGTCAGCTCCAGATTGTTTTACCTGTGCTTCTTACTGACTGGCTATAAACTG
TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTTTGGGAAACTCCAGGGGGATGAAAGTGGAATGGATGTTCTTTAGTCTTTAGAAGACCCGTAACGAATGCCCAGCTGGGCACTTGTTGTTTGCGTAAGCACCAGACCTCGCGTTTAGTAAACAAAGGTGAGACGGGAATAGCGTCGTCCGGTTGTTTCAGGAAGCAGAGTCTATGCTGCTTTTGTATTTTTTCCTTAGCCACTGTGGTGCAGAACCTCATCTTCAGATACTTACAAAATGTACGTAAGTTGCTTGTTTCGTAACTACTTTTTAAATAAGAGGTGAACTGATTTAGTTTTTTGTGTTAACCTGAGCGATCGCTGTGTTCTAGAATTTAAAAATAGATGTAACTGGAGATTGGAGGGTAATTGAGGGGAAGGAGTACTTAGAAAGCACTAATGTGATGAAGTGGTGTGTATCCATGCCACTTCCCAACATGCAAAGAATTGTATCCATTACTTTGCAAGATCAAAAATACTTTTTAATTCCAAAAAGTATTATTAGCAGACTTGACCATGGTATTTGGGCATCAGTAGTTTTGTTAGTAGTGATTATGGCTAGAACATTGGAACCTCTCCCCTTTAGGATGAAACATTGGAAGAAAAACCCAGCCAACTTAAACCATGTCAAGAGGTGGTGTGTTTAATACCTGTGGGAAAACTTAAAGACGAAAAAAGGAAGAGAGAAGGGGTAGCTTCAGAGGAGTTTAGTGGCAGCTGCTTTCCTTTGAGGGAAATTTTAGCAACTTAAATTTTATAGTGTGATAACACAACTGAAAAACATTAATTTCAGGTGATAATAATTCTTAACCACCTGAATTGAGGGCTCCTGTCCTAGTTGTTAGGTGTGTGACATGAGAAGGCTTTGTTTTGGAACTGGATTTTGCTGCAGGAGATAAGCCCTTGGTCATTAGAAATTACTGCTTTGTGCTATGCTGTCAAAAACTTTCACTCTTAATAGATTGAGACCAGAAGCAGTAAGAAATATTGAGTCCCAAAATCACAGGAAAATTATTAGCTTATACAGTTCCAATATAGAACTTATTAAATGAAAATTCTTTTTGAGGTTATTATTATTGGTGAATAATTCTTAGATATGGGCTAATTAGTTAAAACTTTTGACTTACATTCATTACAATTTTTTTAGGAGCCATATTTCTCTTGTCGTTTGACCAAAATGGTTAGGTTTTGTATACTTCAATTTTTTGGGGGGCGGGGGGCGGGGAGATCTTGCTTAATGTTGCGCAGGCTTATATTGAACACCTGGCCACAAAGCGAATTATTCCGCTTTGGCATCCCAAAGTATGGGAACGGTGTGAATCGAGGCACCTGGCCTGTTTTTCTTTTCTTTTTTTTGAGACGGAGTCTCACTGTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCGTCCCGAGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAACGAGGATGGTCTCTATCTCTTGACCTTGTGATCCACCTCCCTCGGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTATTTTTCTTTTTTTAACGTTTCCACTTTTATGATTATTTCAGAGATCGCGGATTCAGGTGTGGCTCTATGAGCAAGTGAATATGCGGATAGAAAGCTGTATCATTGTGAGTATCCAGGCGATTTCATCTCATAGCAGTTCGGTCGTAGAAAAAGACTTAACAGAAAGTGTCTAGCCAGAACAGTGTATAAAAAGTCAAAGATCCAACCTAAGGAAAGTTTTTCAGGTGCTGCTGTTTAGCCTTTTTTCATTGTTGATAGATAAGGATTGGGTAGTTTTTAATAGGGAAAATAACTTTTAATTCATTTTCTTTCCTCTGTCTATGTTGAGAAGAAAATTTGTATTTGATTTTTGAGAAAGGGCTTTGTTCTGTTGCTTAGGCTGGAGTGCAGTGGCACAATCATGGCTCGTTGCAGCCTCAACCTCCCGGGCTCAAGTAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCAGAAGCGTGCACCATCACAGCCTGCTAAATTTTTATTTTTTATAGAGATGAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACCTCAGCCTCTCAAAGTCTTGGGATTACAGGCATGAGCCACAACGCCTGGCTGAAAATTAACTTTTAAAAATTATTCGAAAAAAAAATATTGAGCGACAATGTTAGTATGGAGAGGGGGGACAAAATAAATGAAATTAGGGAGGGTGGGGTTATTTGTTGTGGGTTAGGTGATACCTGAATAGAGAGCTCAGTGGGGTTAGTTAAATAAGGCTTCTGGGATAGCAGGCTACCCTAAATTTTTTTTTTTAAGTTGGGGTCCGGCTCTGTCACCCAGGTGCTCTCAGCTCACTGCAATCTTGAACTCCTTGGCTCAAGTGATTTTTCCACCTCAGCCTCTAGTAGCTGGGAACTATAGGCATACACCACCAGGTCCAGCTAATTTTTAAATATTTTGCTGGGCAAGGTGGCTCACGCCTGTAATCCTAGCACTTAGGGAGGCCGAGCATGATGAATCACTTTAGCTCCAGAGTTCGAGACCAGCCTGGGCAACATGATGAAACCCTGTTTCTACCAAAAATACAAAAAGTAGCCAGGCATGGTGGTGCGCCCTGTAGTTCCAGCTACTTGGGGGGAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTCCAGCTGCAGTAAGCCGAGGTTGCACCACTGCACTCTAGCCTGGAAGACAAAGTGAGATCCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTGGGTGGAAGGTGGGGTGGGGCTTGAGAAGAGTGAATCTTTGAAGTTAGTTGGAGTTTTTATCTGCATAGGTATACTCATTTAAAATGGTTTGAATGTGATTTTCTTTGAAGATAACAGTTTGTTTATTTTTCTAGGGTTTTGATGAGTATATGAACCTTGTATTAGATGATGCAGAAGAGATTCATTCTAAAACAAAGTCAAGAAAACAACTGGGTAAGGATAGAAGTGGTCTTACAGAATTCTAGAAATATTTTATTCACTTGCAGAATTCAGTGACCTGCAACTCAGTTCATGTTTGAATTTATTTTGCATTTGAGAAGTTATTATTCAGAGTAGTAGTACACTTTTGAAATCATCCTCTACTACTCACTCCTCACCACACTCCATTTTGGCTTCTCCACCCAGAGAGCTCTCACCAAGGGAACCAAAGACTAGTGGTATTAAATCTAATGATCAGTACTAATCCTCATTTTATTAAACTCTCAACAGCATTTGGCACTGTTGGCTGCTCCCTCCTTAAAGCGCTTTGTTCCCGTGTCTGAGTGGCAGGAAAAACCCAAGTAGATTTTTCTGTTTCCTCAGTTGACAATAATTAACACAGAAGACTTCTGTGACCAGATGTATGGGCATATTTCCCCACACACCAAGCAAGCAATCAGTTCGGCAGTGGACATCAGCTCAGAGTCGTCAAGTTCAGTTCAGTTCTAACACTATCTACCTGAGATAGCGTCAGTTCCCAGAGGTTGAGGGCTCAATCCCCAAGATTGCCTTCCATGCCCCTCAGTCCTCCACCAGATGCTAATTGTCAGCTCCAGATTGTTTTACCTGTGCTTCTTACTGACTGGCTATAAACTG
Task1_train_2534
A variant affecting Chromosome 1, within the gene REN (renin), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Renal tubular dysgenesis
GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCCACTGGCCTCATGTTCTTACCCTTGTGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGGATCTCACTCTGTTGCCTTAGCTGGAGTGCAGTGGCACAATCACTGCTCACTGAAGCCTTAACTCCTGGGCTCATGCGATCCTCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCTTTTGCCTCCAGCTCTCTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGG
GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCCACTGGCCTCATGTTCTTACCCTTGTGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGGATCTCACTCTGTTGCCTTAGCTGGAGTGCAGTGGCACAATCACTGCTCACTGAAGCCTTAACTCCTGGGCTCATGCGATCCTCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCCTTTTGCCTCCAGCTCTCTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACTTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGG
Task1_train_2535
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?
Pathogenic; Renal tubular dysgenesis
CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGGAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGGCTCAGGGGACCTTGGGTCTTGGGGTCTTGCCTGGCTTCACTCTTGGCTCTCGGTGTGAGACTTGGCCCAGGCGAGGTCCTATAGCCTCTCGGGGTTTCCATTTTCCTGCAGGAACTGGTAGGAGGCTTAGCATCTCCCCATGGCATCCCAGAAAGTGGGAGTCTCAGTAAGACAAGAGGGCAAAATCAAAACATTGAGAATGAAGCAGGAAGCAAACTTGACTCTTGAGGATCCTCTGGGGCAGGAAGCCATCAGGTTGTGCTGGGCCAGGTCACAGAAACCCCCACCTGAGTCACACACCCCTTCCCACCCACCTGTGACACCTGGCTTGAGGCCTGGGCTGAGTTCCAAACCTAACCCTGCCCCTGAATGGCCCCTGGATGCCTTCCTGTCTTCTGTGCTCAGGCTTTCCAGCTGGAAAATGGGAATTTTCTAGGGTGCTCACGTGCTACTCAGCGCCTTCGTCAAACACAGCTTGGAAAGGGTGAGTCTTGCAGCAAAGAAAGCCCTAGGTCCATGAGGGAAAGGAGACAGGGAGGGAGCGAGGGGCTGAGCCAAGCACTCACGTCCATGTAGTTGGTGAGGATCACGGAGGAGGTGGTGTTGCCAAGTGTCAGCCTCTTCATGGGTTGGCTCCACTCGGGACCAAGCCTGGCCATGTCCACACCTCGTTCCTTCAGGCTTTCTCGGATTGAGGGCATTCTCTTGAGGAAGATCCTGGCCCAGGGTGGAGGAAGCAAAAATAGAAAAGTGCTGTACCTCCACCACAGTGGTGGAGTCCCTGAGGCCAAACCCCTGCTTTTAGTACAACCACCTTTAACGTTAGCCCAGCCACCTGGAAATCACCTCTGTCGCTGAGGGCCTCTGGAGCATTTATAAGAGTTACTTCTTGTCAAGAGTCAATTTAGAGGAGTCAGCTGCCCGGGGATTAAATAACCCTGAAGTGACTTCCTTCTGTTGCCTAATTTTGATTAGACAAGGCTATTTGTTTATTGGTCCGTTCATTCATTTATTCCGTAATCACCTGCTGAACAACTACTTTGTGCCTCACTGTGCTGGACACTGGAGCTAGAAAGATAATGATCATGACTGCCTTTAAGGAACTCCACCTGGCGGGAGGACAGACAGGAAACAGGCACAGACATTCCCTCTGAAGAGATTAATGCCAGGGAGTGCCCCTGTCAAAACTAGGGGCTGGCGGGGAGACAGTGCCATGGGAGGCCGCTAGGTGGCAGCAGATGCCCACAGC
CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGCAAACAAACGAATGAAGGATCTAATGGATGACTGAAGTTGGCTGTCTCTGTGTGGGAGGAGCCATGGCCCTAACAGGCAGGGCTACAGGTCACAGTAATCCCTTATTTACCATCGCCCCCACCTTGCATCTCCTCTTGCTCCAGAGTGGCGCTGTCTATTAGAATGTCCTGTCATGCTGGGAATATTCTCTATCTGCACTGTCATAAGACTGTAGTTACTAGCCACCGTGGCTGCCAGGCATTTGACGTGTGGCTAGTACAACTAAGAGCCACCAGTTGAATGCTTAATTGATGCTTAACTGTATTTAATTAATTTAAATTTCAATAGTGCCTTCCATATTGGCTAGTACAGCTCTAGATATTGATTGGCTGTCACCTAATTACAAACACTTTACAATTCTGGCCCAGACTCTCCTTCCACTCCCCATCTCTTCTCCCCTCCTGTCCCCCCACCTCAGCCCTTGGAGTCCCAGTCCCCACCTGTTGTAGTAGAAAGAGAAGACGTCCTCTTTTAGCACCCCTTGGGAGATGATGTTGTCGAAGATAGGGGTGACCCTGCCAATGGCCTGTTCAATGAAGCCCATGCCCACAACCCCATCAAACTCGGCCAGCATGAAGGGTAAGGCGGGCATCTCCGTGACCTCTCCAAACATCTGTGTCACCGTGATTCCACCCACCTGTGGGAGGAAGGACCAGAGGAGACCAAGCCCACTGCCCACTCCTTGGTTGGAGTCTGGTCTGGGCTTCCACACTAGGGATCCCAGGGGCACACATGCTCCAGGGTACAGAAATCGGGGTAAGAGTATTTCCTCAACCCTGCACGCACACACTCTGTGCCAATACACATCTCTGCTGCGGAGCCCAGAGAGAGCTAGAGTTGACCAGGGATCGGAGAGCAGAGGCTGAGAGGGTGGTCCTGCCAAGCAGCAAAAGAAAAGCTGCCAAGAGCTCCTCCCCTCCCCAGTGGCCAGACTTTCGTGCCTGGCAGGACTGGGTCTTGGCCCCCACCCTTATCATGGGCGAAGGGTTTCTTTAGCACAGACAAGCTTGCCCTTCTCCCTCCTTTATATCTGAGTTCACAGAAAAAGGAAGGGAGGCAGGAATCACCCTGATTTCCTCTCAGGTGCCACGTGTGCCCCTCCCCTAACTCTGATGGAGCAGGGCCTGAGAAACTCCAGGATGAGGAAACGGTCAGACATGGGCCACATGGAAAAGAAAAGCAGGCCTTGACCTGAGTCCCAGAGTCAACCTCAACTGTGACCTTAAAACCTATGCCTGACCCTAAAACTCAGCCTGACTCTGACCCTGGATTTCAGTCTAGGGTGTAGCCCAGTCAGAGCTGGTGAACTTGGACGAGTTACTTGACTGCAGCCACGGGGCTCAGGACAAGCCCTACATGCAAGTTAGATGCAAAAACATCCACAAACCACCCAACGGTGAGCCCGTAGCCCAGGCTTGCTCCCCCATAGGTACTGCTGCTTTGCAGCAACAGCCAGATGTGGCAGAGTAGGGTGTTCCTCAGCTCCCCAGGCTCCAAGTGGGCTGCAGTGTACCTCCCCGCAGGTGTGGGCCCTGGAGGGTCAGGAGAGGCCTGGGGACAGAAGGGGTCCGGGGCAGATGACCTAGGGCGGCCCAACTTACGGTGATGATGTCCTGGCTGAGAAAGCCACTGACTGTCCCTGTTGAATAGCGGAGGGTGAGTTCTGTTCCATTGTGCTTGTAGCTGGAGTAATCCGAAGCATCGAAGAGCTTGTGATACACTGGCAGGGGGACAGAGGCTCAGGTTTGTCCAAGAGTGGCCCAGACAGGGGGACTCAGAGGCAGGGTGCATTGTGGGTATGGCTGGTTAGCTTAGGTGCAGGGATGAGTGGCCCTAGGGTCAGGGGGCTTGGAATATGTGCTTCATCAATCAAGGACTGGGTTTCTTGGGCTCTCCTAATGTGCCCATACATCGAGAATTTTGTCCTAAATGAAGGAATTTAAAGTAATCACTAACACTGATAACACCAGAGAAGATGCCAGGCACAGAGTAAGTGCCTAGTAAGAGGTTGTTGATTAAGACTAGGGATGGAAGAGTTCCGAGTGCCTGGGATGGGTTTGAGAATTCAGTCCTGTCTCAATCTCAGGAAGACTGGGAAGTGGCCTTCTGGGTGCTCAGGGGTTCTTGGACCTTTTTTTGTTTTTAACCTTGGTGGCTGTATCAGAAAAACGGGAGACATCTTCCCCTCTCCCCTACATGTCAGTGGGCACAGAGGCAGAGAGGAAGCCACTCCCTTGGTGGCAAGAGGGATGGGAGCTGGGTGTTGGGCAGGATTGCTCATGCACAGTAGGGCAGGGGGATGGAGGAGAGGCACTGTGGGTCTTAGGTCTCACCACAGGCAGTGTAGAGACGGCTGCACTTGGAGGAGGGCACCCAAACATTGGACGAACCAGTGTCAAAGACGACTTTGAAGGTCTGGGGTGGGGTGCCGATGCCAATCTCGCCATAGTACTGGGTCTGTGGGGGTAAAAAGAGAGGGCTGGAGGGGCTCAGGGGACCTTGGGTCTTGGGGTCTTGCCTGGCTTCACTCTTGGCTCTCGGTGTGAGACTTGGCCCAGGCGAGGTCCTATAGCCTCTCGGGGTTTCCATTTTCCTGCAGGAACTGGTAGGAGGCTTAGCATCTCCCCATGGCATCCCAGAAAGTGGGAGTCTCAGTAAGACAAGAGGGCAAAATCAAAACATTGAGAATGAAGCAGGAAGCAAACTTGACTCTTGAGGATCCTCTGGGGCAGGAAGCCATCAGGTTGTGCTGGGCCAGGTCACAGAAACCCCCACCTGAGTCACACACCCCTTCCCACCCACCTGTGACACCTGGCTTGAGGCCTGGGCTGAGTTCCAAACCTAACCCTGCCCCTGAATGGCCCCTGGATGCCTTCCTGTCTTCTGTGCTCAGGCTTTCCAGCTGGAAAATGGGAATTTTCTAGGGTGCTCACGTGCTACTCAGCGCCTTCGTCAAACACAGCTTGGAAAGGGTGAGTCTTGCAGCAAAGAAAGCCCTAGGTCCATGAGGGAAAGGAGACAGGGAGGGAGCGAGGGGCTGAGCCAAGCACTCACGTCCATGTAGTTGGTGAGGATCACGGAGGAGGTGGTGTTGCCAAGTGTCAGCCTCTTCATGGGTTGGCTCCACTCGGGACCAAGCCTGGCCATGTCCACACCTCGTTCCTTCAGGCTTTCTCGGATTGAGGGCATTCTCTTGAGGAAGATCCTGGCCCAGGGTGGAGGAAGCAAAAATAGAAAAGTGCTGTACCTCCACCACAGTGGTGGAGTCCCTGAGGCCAAACCCCTGCTTTTAGTACAACCACCTTTAACGTTAGCCCAGCCACCTGGAAATCACCTCTGTCGCTGAGGGCCTCTGGAGCATTTATAAGAGTTACTTCTTGTCAAGAGTCAATTTAGAGGAGTCAGCTGCCCGGGGATTAAATAACCCTGAAGTGACTTCCTTCTGTTGCCTAATTTTGATTAGACAAGGCTATTTGTTTATTGGTCCGTTCATTCATTTATTCCGTAATCACCTGCTGAACAACTACTTTGTGCCTCACTGTGCTGGACACTGGAGCTAGAAAGATAATGATCATGACTGCCTTTAAGGAACTCCACCTGGCGGGAGGACAGACAGGAAACAGGCACAGACATTCCCTCTGAAGAGATTAATGCCAGGGAGTGCCCCTGTCAAAACTAGGGGCTGGCGGGGAGACAGTGCCATGGGAGGCCGCTAGGTGGCAGCAGATGCCCACAGC
Task1_train_2536
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?
Pathogenic; Familial juvenile hyperuricemic nephropathy type 2
CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGAGCAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTGA
CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGCGCAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTGA
Task1_train_2537
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.
Pathogenic; Hypogonadotropic hypogonadism 13 with or without anosmia
TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGTAAATGGGGTCACAGGAAGTTTTGTAAAAATTCAGAGCAGAATTCAGGAAACCATCAGCTTCTTCCTGCCCATCATCAGATAAAGGATTGCTTCCAGGGGCTAGGAGAACAGCATGCTTAATAGAATAGGTCTTGAGTTGATGATTGCCCTCCTAGAGGTACAGAGACACACCCCAGAGTGTTTAGGAATAAAAAGCCCTTCTAAATATCAACATCATGCTGTCATGATGCGTGATGATGTGAGCTCACAGCAGTATCGATAATTTGGGAGATCCTGGAGAGCTGTTTCAAGGGTAGAGATGGGGGAGCATGTTGTCATGTTCCCATGACAGCCTATCTCATTGCCATAGCAACACAGCTCTGCCTCCATCCTGTGGAGTCCTGGTTTCCGTAGTGGGTGGAACACTGTGTCACTTCACTGTATGGAGACGGGTCCTACGATCCCTCTGGGAAAGAACATTTTCATCCTAGACTGTGCAGTATAGGGGTACCCCGAGGCTAAGTAGTGCTGTGTTTTCTTGTCGGCAGGAGGGTGGATTTCCTGGGGTTTTCCCACTGACGAGCTCTACTTCTTCCTACCACAATTTCTACTCCCCAGCTATTGCACCCCAAAGTAAGTCCCCATGAGGCAGGCTACGCTTTCTTGATCTGCACCTGGCTGACTCAGATGGAAACCCTGCCATGGCAGAGAGGCATGACAGGTCAGTGGGGAAGACAGGCTCTGGTATCAGGAGACCTATTAGGCTTGGAGCTCATTGCCGATGTGTCTGGAGCGAGTGGTTTATCCTTCTTGACTTTAGGGTTCTACCTGTAAAGATGGGGCTAATGCATTCCCATCACCCTGGGTAGTTATGAGGATGAAGGAAAGCAATATGTGTAAAGACCCAACCTGGCTCCCTGGAGGGAAGGGGGAAGAGTGAGTGGCTGGTCCACTGTTGATGCCCTTTGCATCCCAGACCCCAGCAGGGGTCTGACTGTGGGGCTCAGATGATATTTAAGCCTCAATGGACAGGGCAGTGATTGGCATCATCTTCCAGATCAAGCTGCCCAACTTCCGTGGGAAAGGGAAAGGTACTTAATCAGTCCATCTCCCCCATGCCTCCCTTATCCCCCAGTACTACTCAAAGTGTGGGCAGTGAGCCATGACCCTCTGCAAAATGTCACCCATCCTCAGGGAGATAAGTCTGGGCATTCTGAGGACATCTCCAGAAATTTTTATAGAAATTTGATATCGCTGAAACATTCCAGCAGCATACAGTTTGGTCTTCTCTTTTGTTGTTTTTAAATTTTTCAGATTTTCAGTGATCCATTTTAATTTTTTTTTTTAAGTACCAATCTGCAATGGATTGGAGAACTAACCGCCTGTTCCTTCATTACACCTAGTGTGAGAAGCACTGACCTTAATGACACCAGAGGCCTCTTGAAATCAGCTAACCATCCATTGAGGATGGAAGGGGAACAGCCTCATCAGAGCTGCTTGCAAAAATGAGCCGCAGACCACACGTCAGTGAGTTACGCAACATTTCTTTTATTGCCTCGGGTTGGAAGCTCCAGCGCCCCCTCCCTTAGCCCTACGTCCCCGCCCCCCGCCCCCGCCCCGCATGCTCTGACTCCTTTGGGGTCTGAAGTTCACTGCCCCGCACCTGCGCCCTCAGCCCCGCCCAGCGCTTCTGCCGTGGTTCCCTGGTGCCGCCTCCCGCTTGCCGAAGCGCAGGCCGAAGGAGTTCCAGTTGTAGTTCGGCAGGTCCTTCTCCCGCTGCACCAGCACCGCGCCCTGGGGTGCGGGGATCTGGCGGCTGTGGGGGGCGGACAGGCCCGGCTGCTGGGGGCTCCCGGAGCTCTCGGGGGGCGGGGACAGCGAGGTCCCCCGACGGCTCAGCCTGGCAGTAGCAGCTGGCTTCCTCTCGGTGCACGGCAGGCTCTGCTCCCCGGGGGCCAGGAGGCCCAGGGATTCTAGCTGCTGGCCTAGGACAGAGGGCACAGAAAGATGAGGCCGGGGTCCGGGAAAGATGGCTTTGCAACACCTCCTGTCATCCCATCCTATCCTTCTTTTCCTTCCTTGACCTTTTGGAAGCTCGGAGCTCAGTGCCATGCGAACCAGCACGATCACCTTAGCTGGGATGATTAGGCCCTAGGCGCCTCCCTCTTCCAACATAGCTTTGATTTAGAATGTTTGCCAGAATTATCTTAAATAACTCTCATATTACGTTACTTCCTTTTAGGAAACAAACAGGGTAGGGCATGGAAATAAAGAAAACCAAAGTATTTGCTGAACACCCAGCTCTGGGCCCCTTCCTGGCTGTGAGCAGCCTGGGCAGTGGGGCCATGTTAATTCATCTCTGTATCTCTCATAGTGCTTGAAACAGTGGCTTGCTCATAGTGGGGCCTCAATAAATGCCTGTTAAATACATAAAAGCTAAAAACGTGTAGTAACAGAAATCGAGAAAGTGGAGCTAAGACATTGTGGCCCCACACACCTGTGTTCCAACACTCGTCTTTGATAAGAATTGTGACCACCCACCCCCCCAACCCCGCCCAATAAGCTACATAAGGACTCAATGAGAAACAAAAATTATCTAGGTCACCTTAACTGGCTCTCTTCCTCCATCCTGGGTATAACTTCTCTCCTTCATTCTGAGGATTAACAAGGCTAATTTGGAAGGCACTTCACATGCAAGGCTCATTAAGTTCACTGTACTTTTTGGCTGTAAAATAGGGCAACTAGCTCTGTGTAGACAATAACCCCAGCCCATTGCGGCAAGAGATTAGTGGAAATGAGGCCTGGTGTGTGAATGGGTGTGAATAGATGTGCTGGGGCGGCAGTTGGCTTTGAGCCCTGCTCCTCCGTGCCCTGGCACAGTCTGGAAAAGAGGAGTGTGGACCTGGTCCAGAGTTAATGGCAGTCGCCTGCGAGGTCCCTCAGCCCTTGCCCAGGGCCTGGCTGAGGTAGGAGGAGGATGGCTTCCTCCCCAGTTGCGCACGCTAGACCAGTAGTAAATCACTGTTCAGGCTGCTGTTGGTGACCTCACCTAAAGCCTTTTGCCAAAAAGAGCCAACAACCCTATATCCCTGGGCAGTGTGGGGTTATTTTCTGGGGTAGCCTCCCTCACCCAGAAAAACGCCTGATCCCAGGACAGAAGACACGCTTGGCAAACGACACCCGGGGCCGTGTCCTCTGTGCTCTGGAAGGTCTTATGGGCATATACGATGACATCAAATGTGTAGAGGGCATGCCCCAAGTTTTATAGCTGGGGGAACTCAGGTCCAGAGAAGCTAAGTCATGGGTTCTAGTTTGCCCAGAAAGCTGACACCAGGAAGTGTGCCAAGCCACAGCTCCTGACTTGGGGACTAGTATTGTTCTAGCTTGTGCCACTCACCAGACACACTCCTGGGGAGCTCTGACACCTGCTGGGTTTCCACAGTGTTTGAGCGACTCTGGGGAAATCTCTTTACCTCTGTGGGTCTCAAATTTTCCAGCTTATCAGTTCCCCAATGAACTGGAGACAGTTCATTGTCTCCAAAAGGTTAATAGGTATCAAATATCTGCCCTTTGGTTTAGGTTTTTTTTTTTTTCCAAATTCTCCACAAAGAATCTGAGGTCACCGATAAAGCAAGGTTGCATATGAAGTTTCTTCTCAACATCGGCACAGAGAGGTTGCTGACGTAGAGCAGAGAACACAGTGTGAGGAAACCATGAAAGAGCTCAAGGGTTAATAAGCCCTGGAACCTAGGTGGGCGGACTGAGGCCATCACAGAGGCAAGGCATCCGTCACTTGC
TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGTAAATGGGGTCACAGGAAGTTTTGTAAAAATTCAGAGCAGAATTCAGGAAACCATCAGCTTCTTCCTGCCCATCATCAGATAAAGGATTGCTTCCAGGGGCTAGGAGAACAGCATGCTTAATAGAATAGGTCTTGAGTTGATGATTGCCCTCCTAGAGGTACAGAGACACACCCCAGAGTGTTTAGGAATAAAAAGCCCTTCTAAATATCAACATCATGCTGTCATGATGCGTGATGATGTGAGCTCACAGCAGTATCGATAATTTGGGAGATCCTGGAGAGCTGTTTCAAGGGTAGAGATGGGGGAGCATGTTGTCATGTTCCCATGACAGCCTATCTCATTGCCATAGCAACACAGCTCTGCCTCCATCCTGTGGAGTCCTGGTTTCCGTAGTGGGTGGAACACTGTGTCACTTCACTGTATGGAGACGGGTCCTACGATCCCTCTGGGAAAGAACATTTTCATCCTAGACTGTGCAGTATAGGGGTACCCCGAGGCTAAGTAGTGCTGTGTTTTCTTGTCGGCAGGAGGGTGGATTTCCTGGGGTTTTCCCACTGACGAGCTCTACTTCTTCCTACCACAATTTCTACTCCCCAGCTATTGCACCCCAAAGTAAGTCCCCATGAGGCAGGCTACGCTTTCTTGATCTGCACCTGGCTGACTCAGATGGAAACCCTGCCATGGCAGAGAGGCATGACAGGTCAGTGGGGAAGACAGGCTCTGGTATCAGGAGACCTATTAGGCTTGGAGCTCATTGCCGATGTGTCTGGAGCGAGTGGTTTATCCTTCTTGACTTTAGGGTTCTACCTGTAAAGATGGGGCTAATGCATTCCCATCACCCTGGGTAGTTATGAGGATGAAGGAAAGCAATATGTGTAAAGACCCAACCTGGCTCCCTGGAGGGAAGGGGGAAGAGTGAGTGGCTGGTCCACTGTTGATGCCCTTTGCATCCCAGACCCCAGCAGGGGTCTGACTGTGGGGCTCAGATGATATTTAAGCCTCAATGGACAGGGCAGTGATTGGCATCATCTTCCAGATCAAGCTGCCCAACTTCCGTGGGAAAGGGAAAGGTACTTAATCAGTCCATCTCCCCCATGCCTCCCTTATCCCCCAGTACTACTCAAAGTGTGGGCAGTGAGCCATGACCCTCTGCAAAATGTCACCCATCCTCAGGGAGATAAGTCTGGGCATTCTGAGGACATCTCCAGAAATTTTTATAGAAATTTGATATCGCTGAAACATTCCAGCAGCATACAGTTTGGTCTTCTCTTTTGTTGTTTTTAAATTTTTCAGATTTTCAGTGATCCATTTTAATTTTTTTTTTTAAGTACCAATCTGCAATGGATTGGAGAACTAACCGCCTGTTCCTTCATTACACCTAGTGTGAGAAGCACTGACCTTAATGACACCAGAGGCCTCTTGAAATCAGCTAACCATCCATTGAGGATGGAAGGGGAACAGCCTCATCAGAGCTGCTTGCAAAAATGAGCCGCAGACCACACGTCAGTGAGTTACGCAACATTTCTTTTATTGCCTCGGGTTGGAAGCTCCAGCGCCCCCTCCCTTAGCCCTACGTCCCCGCCCCCCGCCCCCGCCCCGCATGCTCTGACTCCTTTGGGGTCTGAAGTTCACTGCCCCGCACCTGCGCCCTCAGCCCCGCCCAGCGCTTCTGCCGTGGTTCCCTGGTGCCGCCTCCCGCTTGCCGAAGCGCAGGCCGAAGGAGTTCCACTTGTAGTTCGGCAGGTCCTTCTCCCGCTGCACCAGCACCGCGCCCTGGGGTGCGGGGATCTGGCGGCTGTGGGGGGCGGACAGGCCCGGCTGCTGGGGGCTCCCGGAGCTCTCGGGGGGCGGGGACAGCGAGGTCCCCCGACGGCTCAGCCTGGCAGTAGCAGCTGGCTTCCTCTCGGTGCACGGCAGGCTCTGCTCCCCGGGGGCCAGGAGGCCCAGGGATTCTAGCTGCTGGCCTAGGACAGAGGGCACAGAAAGATGAGGCCGGGGTCCGGGAAAGATGGCTTTGCAACACCTCCTGTCATCCCATCCTATCCTTCTTTTCCTTCCTTGACCTTTTGGAAGCTCGGAGCTCAGTGCCATGCGAACCAGCACGATCACCTTAGCTGGGATGATTAGGCCCTAGGCGCCTCCCTCTTCCAACATAGCTTTGATTTAGAATGTTTGCCAGAATTATCTTAAATAACTCTCATATTACGTTACTTCCTTTTAGGAAACAAACAGGGTAGGGCATGGAAATAAAGAAAACCAAAGTATTTGCTGAACACCCAGCTCTGGGCCCCTTCCTGGCTGTGAGCAGCCTGGGCAGTGGGGCCATGTTAATTCATCTCTGTATCTCTCATAGTGCTTGAAACAGTGGCTTGCTCATAGTGGGGCCTCAATAAATGCCTGTTAAATACATAAAAGCTAAAAACGTGTAGTAACAGAAATCGAGAAAGTGGAGCTAAGACATTGTGGCCCCACACACCTGTGTTCCAACACTCGTCTTTGATAAGAATTGTGACCACCCACCCCCCCAACCCCGCCCAATAAGCTACATAAGGACTCAATGAGAAACAAAAATTATCTAGGTCACCTTAACTGGCTCTCTTCCTCCATCCTGGGTATAACTTCTCTCCTTCATTCTGAGGATTAACAAGGCTAATTTGGAAGGCACTTCACATGCAAGGCTCATTAAGTTCACTGTACTTTTTGGCTGTAAAATAGGGCAACTAGCTCTGTGTAGACAATAACCCCAGCCCATTGCGGCAAGAGATTAGTGGAAATGAGGCCTGGTGTGTGAATGGGTGTGAATAGATGTGCTGGGGCGGCAGTTGGCTTTGAGCCCTGCTCCTCCGTGCCCTGGCACAGTCTGGAAAAGAGGAGTGTGGACCTGGTCCAGAGTTAATGGCAGTCGCCTGCGAGGTCCCTCAGCCCTTGCCCAGGGCCTGGCTGAGGTAGGAGGAGGATGGCTTCCTCCCCAGTTGCGCACGCTAGACCAGTAGTAAATCACTGTTCAGGCTGCTGTTGGTGACCTCACCTAAAGCCTTTTGCCAAAAAGAGCCAACAACCCTATATCCCTGGGCAGTGTGGGGTTATTTTCTGGGGTAGCCTCCCTCACCCAGAAAAACGCCTGATCCCAGGACAGAAGACACGCTTGGCAAACGACACCCGGGGCCGTGTCCTCTGTGCTCTGGAAGGTCTTATGGGCATATACGATGACATCAAATGTGTAGAGGGCATGCCCCAAGTTTTATAGCTGGGGGAACTCAGGTCCAGAGAAGCTAAGTCATGGGTTCTAGTTTGCCCAGAAAGCTGACACCAGGAAGTGTGCCAAGCCACAGCTCCTGACTTGGGGACTAGTATTGTTCTAGCTTGTGCCACTCACCAGACACACTCCTGGGGAGCTCTGACACCTGCTGGGTTTCCACAGTGTTTGAGCGACTCTGGGGAAATCTCTTTACCTCTGTGGGTCTCAAATTTTCCAGCTTATCAGTTCCCCAATGAACTGGAGACAGTTCATTGTCTCCAAAAGGTTAATAGGTATCAAATATCTGCCCTTTGGTTTAGGTTTTTTTTTTTTTCCAAATTCTCCACAAAGAATCTGAGGTCACCGATAAAGCAAGGTTGCATATGAAGTTTCTTCTCAACATCGGCACAGAGAGGTTGCTGACGTAGAGCAGAGAACACAGTGTGAGGAAACCATGAAAGAGCTCAAGGGTTAATAAGCCCTGGAACCTAGGTGGGCGGACTGAGGCCATCACAGAGGCAAGGCATCCGTCACTTGC
Task1_train_2538
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.
Pathogenic; Microcephaly, short stature, and impaired glucose metabolism 2
CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAAAATTTGACCAGCTTTTATAGTGTTGCATTCTCAATGTGTTTAATTATGAATATATAAACAGTGGAGGCAGTTCTTAGAACTGGATAGAAATAAAATAATGACCAGGTAGATTGTAAACTGAGGTAGTAACCCTGTAAGCACTTCTGATGAAAAATTCATCCCCACACTTAAATAAGTTCAAAACTAAGAGGTCACCTATTCTACTTATGTTTTCCATTACCTGTGACAGGAAGCACACGGAATGAAAGCAGACCACGGAAGGGTTAACAACCCCTCAACCTAACTTATGTGTACCTTGTAAAGCTAAACAAATAAACCAAACACAAACAGTCAATGCAAAGACTTCAATTCAAAGTAACCTTTGGGCTAAATATATTAAAACTTTCCAGTCATTAATCTATACTTCTATCCTTTCCTGAAAGTAAAGGCCTTGCCATTACTTCTCTCATTATTAAATAGTAGGACACAATAAACCTGGATATTGACTGAAGTTTATATTTTACATTTCAAACGTGAAAATTCAGAACTGCCCATTTCCAATTTTACAGTGGGATCCTGACAGGTTTTAAAAGTGACAGTGCTGAGGCATGATATTCATTAACACTGGTTTTCTGTTGAGAACATATACACCAAAACCAAATTGCTCTGAGATGTCTCCTATTTTCTTTCTAGGAAATTTCTAGGCTTTTAAGTTTAAAAAATAAATGATTATGATGTAATTATTACTTTCCAGAGTGTTTTGCAATAACTTCAACCTGTTAAGAGATACAAAGAACTATATTAAACTGGGAACTACAATAACGTACACAGAACCCTCTTCAAAGAAATTAAATATATTAGATGTTAAAATGTGGTAGAAAGATGCAGCTTTCCCAAAGTAGTAAAGTACTGCACATATGGGTTTTGTGGCAGTCCTTGGAAATATCCTAGGTAGAACTTAATGTAGAAATAAAAAGGCTACCACATATTTTCAATCCAAGTCATTTTTACAAGAAAAAAAAAAGTGACACAAAATAATGCACTTTAAGTTGGTAGCATACACAAGGTTATTTTTTAGCCTAACATAGACAGGCCAAATCATTGAAATAAAAAAAATATAGAAAAACATAAAAGCCCATTAACTTCTGAATTTTGGGAAAGAAACAAGAAAGAGCCCAAAGTTTTCAGATAGGCACACATAATTTAGATTAGAAATGAAAATGGGCTTTAAGCCCTATAAATATTGTTTTCCAAGAAAATAAGTTTTGAAAGTGCAAAATGACAACTCAAAAAGGTCCCCTTTCCACCTCATGCAGGCAAAGGACATTTAAAAGCACATCCAACTAAATCAAAAAAGGGAGGATTAGAAATCACACTAGTTCATCCTTCATTATCAGGGCTGGCTTCAAACCTGAATGTTTCTGAGTGGGATATGTTGCAAAAAAAAAAATTAAACTAGATCCAAGTTACATTTCCTCTAAAAAAAAAAATGTCAAAGGACAGCTGCCAAGATTTGTTTTTAAAAGACACCTCTCAGGTAAGAGGTAGTGTATGCTAGCTAGGACTACAGGCTGCCAACTCAACATTGCTTGAGAACATTAAGTCCTTTGAAGCATGTTCCCTGGAGTCTATTAAACATTCTTTCTCTGTGTTCAAATGTCAAGCAATATCCAATAGCATCTTCTGTTTCTTGAATTCGTTTCTGGAACCTGCATCCATCCCTTGCAAATTCTTCCCATGGTCCTTTGCGATCCTCATCACCACTTATATAATACTCAGTAACTTCTTCAAGGAAGGTTACCTACAAAAACAAAGACTAATTTTAATAACTGTCTAGGATCTTACAATCAGCATTGAGGTCAATAACCCTTTATGCTACCAATTCTTTCAGAATATTCCCAACTAAGAATAACATATTATTATTAGGAATATTTGGTCCCAGCTATATTTGAAGTTAAAAAAAAAGTTCTGTCACGCCTGTAATCCCAGCATTTTGGGAGGCGGAAGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACAGTGAAACCCTGTCTCTAGTAAAAATACGAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACGCAGGAGGCTGAGGTAGGAGAACAGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAATATCGCGCCACTACACTCTAGCCTGTGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGTTCAGATTAGATGGCATTTGGATAAAATAGTGAACAAATGTCACCTAAATATTTCATATAGAGATATATATCTTTCATCTATATATACTTCATTTATCTATATCTGCATAATATACACACACAGTCGTCTGCCCCCCCCAATCCCCCACCAGCCCTTGGCTTTTGGTGTTAATAAAATGAATCCAGATAGGGAATTGAATTTTTCATGCTGTTATTAACCCCTGCTATTTTTTAATCCTTAGGGAAATACAGTTCTGTGATATTTTTCCCTCAAAATGACAAGCAAAATATTTCTGAAAATAACCACTATATCCCTGGAAGTCACTGTTTTTATCACTGCATAAAGGCTTTAACAATATTTTTGCTTACTTCTATTCTTTTTCCTTTTAAAAATTTTTTTCACTTTCCAACTTTTAAATCAACATGTTGTACTATTTTTGTATCATTACTTTGGCAATAACAATACAGAAGAGAAAAAGTTACTTAGTAAACAAAGTATAGCAAAATTAGTATTTTTAAAGCTGTGTTACTCTAAGAAACTTTGTAGTTAAGATTTTAAAAACCTTTGTATTCAATATGCTATCACTATATATGAAATTGTGATTCTAATATACATAATGACATGTAATGAGTGACAATCCCTACTCATTACTAATCACTACTTAATTTCTAATGAAGTTTCTTTCTAAGATATCAAACTCCAAAAGTAAATACTTGCTTTCAAGTATGTTTAATAGTTACATCAGCTAACCCCAATGTGGCCTACTACTTTCGTTCCCTTTACATCAAGCCAAGGGATGCCCCTGAGGACAATTAGCAGGTATGTAACACCTTACTAGTTATTGCATTCTAGTCTTGAATACTACTCATTCATTGTGTCATTAAGATAAATAATAAAAACGTACAGTGTTTACCATATACCAGGCTTTTTTTAAAGAGCTTTACATTTTTATCTCATCTAATCCTCACATTAACCCTATGAGGTATGGACTATTATCATCCCCATTATACCGATAAGAAAACAGAGGTAGAAGGGTTTTTTAGACTCACTGTCCATCATCCTATATACTCCATATATTCCATACACCATTCCCCATATATACCAATGGCAGGTAGTCAAAGGCTGTCAAATAATTATATCATATTCAGACATAATCATTTATAAATTCTGCTTCTAGTTCATAGTCAATAGTATCATCTACTCCACTCATTTCATTTTACTCAACGAGCAAGCTAAAACAAGACATGAGACTGGCCTGAGGTCTCTCAATAAGAGCTAGCATTTAAAGGCAAGGCAATAAATTCTGAGTTTTATTTACTTGTCTCATTTAAATCTTGCAATAACTTGTACAATAGATATTATTATTTTACCCATCAAGTAAGAGTGAATTGAGGCCATGAGAGTCAAGCAACTTCCCAGGTCTGGCTGCCTTCCAAATCTCTGCGCCTTAACCACTGAGGAGTAGAGAACACAGGGCTCCAGCTGCCAAGTGCTCATTCCATTGCCCCACTTTGTTTCTTACCTATTCATTCTAAATAGGTCA
CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAAAATTTGACCAGCTTTTATAGTGTTGCATTCTCAATGTGTTTAATTATGAATATATAAACAGTGGAGGCAGTTCTTAGAACTGGATAGAAATAAAATAATGACCAGGTAGATTGTAAACTGAGGTAGTAACCCTGTAAGCACTTCTGATGAAAAATTCATCCCCACACTTAAATAAGTTCAAAACTAAGAGGTCACCTATTCTACTTATGTTTTCCATTACCTGTGACAGGAAGCACACGGAATGAAAGCAGACCACGGAAGGGTTAACAACCCCTCAACCTAACTTATGTGTACCTTGTAAAGCTAAACAAATAAACCAAACACAAACAGTCAATGCAAAGACTTCAATTCAAAGTAACCTTTGGGCTAAATATATTAAAACTTTCCAGTCATTAATCTATACTTCTATCCTTTCCTGAAAGTAAAGGCCTTGCCATTACTTCTCTCATTATTAAATAGTAGGACACAATAAACCTGGATATTGACTGAAGTTTATATTTTACATTTCAAACGTGAAAATTCAGAACTGCCCATTTCCAATTTTACAGTGGGATCCTGACAGGTTTTAAAAGTGACAGTGCTGAGGCATGATATTCATTAACACTGGTTTTCTGTTGAGAACATATACACCAAAACCAAATTGCTCTGAGATGTCTCCTATTTTCTTTCTAGGAAATTTCTAGGCTTTTAAGTTTAAAAAATAAATGATTATGATGTAATTATTACTTTCCAGAGTGTTTTGCAATAACTTCAACCTGTTAAGAGATACAAAGAACTATATTAAACTGGGAACTACAATAACGTACACAGAACCCTCTTCAAAGAAATTAAATATATTAGATGTTAAAATGTGGTAGAAAGATGCAGCTTTCCCAAAGTAGTAAAGTACTGCACATATGGGTTTTGTGGCAGTCCTTGGAAATATCCTAGGTAGAACTTAATGTAGAAATAAAAAGGCTACCACATATTTTCAATCCAAGTCATTTTTACAAGAAAAAAAAAAGTGACACAAAATAATGCACTTTAAGTTGGTAGCATACACAAGGTTATTTTTTAGCCTAACATAGACAGGCCAAATCATTGAAATAAAAAAAATATAGAAAAACATAAAAGCCCATTAACTTCTGAATTTTGGGAAAGAAACAAGAAAGAGCCCAAAGTTTTCAGATAGGCACACATAATTTAGATTAGAAATGAAAATGGGCTTTAAGCCCTATAAATATTGTTTTCCAAGAAAATAAGTTTTGAAAGTGCAAAATGACAACTCAAAAAGGTCCCCTTTCCACCTCATGCAGGCAAAGGACATTTAAAAGCACATCCAACTAAATCAAAAAAGGGAGGATTAGAAATCACACTAGTTCATCCTTCATTATCAGGGCTGGCTTCAAACCTGAATGTTTCTGAGTGGGATATGTTGCAAAAAAAAAAATTAAACTAGATCCAAGTTACATTTCCTCTAAAAAAAAAAATGTCAAAGGACAGCTGCCAAGATTTGTTTTTAAAAGACACCTCTCAGGTAAGAGGTAGTGTATGCTAGCTAGGACTACAGGCTGCCAACTCAACATTGCTTGAGAACATTAAGTCCTTTGAAGCATGTTCCCTGGAGTCTATTAAACATTCTTTCTCTGTGTTCAAATGTCAAGCAATATCCAATAGCATCTTCTGTTTCTTGAATTCGTTTCTGGAACCTGCATCCATCCCTTGCAAATTCTTCCCATGGTCCTTTGCAATCCTCATCACCACTTATATAATACTCAGTAACTTCTTCAAGGAAGGTTACCTACAAAAACAAAGACTAATTTTAATAACTGTCTAGGATCTTACAATCAGCATTGAGGTCAATAACCCTTTATGCTACCAATTCTTTCAGAATATTCCCAACTAAGAATAACATATTATTATTAGGAATATTTGGTCCCAGCTATATTTGAAGTTAAAAAAAAAGTTCTGTCACGCCTGTAATCCCAGCATTTTGGGAGGCGGAAGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACAGTGAAACCCTGTCTCTAGTAAAAATACGAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACGCAGGAGGCTGAGGTAGGAGAACAGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAATATCGCGCCACTACACTCTAGCCTGTGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGTTCAGATTAGATGGCATTTGGATAAAATAGTGAACAAATGTCACCTAAATATTTCATATAGAGATATATATCTTTCATCTATATATACTTCATTTATCTATATCTGCATAATATACACACACAGTCGTCTGCCCCCCCCAATCCCCCACCAGCCCTTGGCTTTTGGTGTTAATAAAATGAATCCAGATAGGGAATTGAATTTTTCATGCTGTTATTAACCCCTGCTATTTTTTAATCCTTAGGGAAATACAGTTCTGTGATATTTTTCCCTCAAAATGACAAGCAAAATATTTCTGAAAATAACCACTATATCCCTGGAAGTCACTGTTTTTATCACTGCATAAAGGCTTTAACAATATTTTTGCTTACTTCTATTCTTTTTCCTTTTAAAAATTTTTTTCACTTTCCAACTTTTAAATCAACATGTTGTACTATTTTTGTATCATTACTTTGGCAATAACAATACAGAAGAGAAAAAGTTACTTAGTAAACAAAGTATAGCAAAATTAGTATTTTTAAAGCTGTGTTACTCTAAGAAACTTTGTAGTTAAGATTTTAAAAACCTTTGTATTCAATATGCTATCACTATATATGAAATTGTGATTCTAATATACATAATGACATGTAATGAGTGACAATCCCTACTCATTACTAATCACTACTTAATTTCTAATGAAGTTTCTTTCTAAGATATCAAACTCCAAAAGTAAATACTTGCTTTCAAGTATGTTTAATAGTTACATCAGCTAACCCCAATGTGGCCTACTACTTTCGTTCCCTTTACATCAAGCCAAGGGATGCCCCTGAGGACAATTAGCAGGTATGTAACACCTTACTAGTTATTGCATTCTAGTCTTGAATACTACTCATTCATTGTGTCATTAAGATAAATAATAAAAACGTACAGTGTTTACCATATACCAGGCTTTTTTTAAAGAGCTTTACATTTTTATCTCATCTAATCCTCACATTAACCCTATGAGGTATGGACTATTATCATCCCCATTATACCGATAAGAAAACAGAGGTAGAAGGGTTTTTTAGACTCACTGTCCATCATCCTATATACTCCATATATTCCATACACCATTCCCCATATATACCAATGGCAGGTAGTCAAAGGCTGTCAAATAATTATATCATATTCAGACATAATCATTTATAAATTCTGCTTCTAGTTCATAGTCAATAGTATCATCTACTCCACTCATTTCATTTTACTCAACGAGCAAGCTAAAACAAGACATGAGACTGGCCTGAGGTCTCTCAATAAGAGCTAGCATTTAAAGGCAAGGCAATAAATTCTGAGTTTTATTTACTTGTCTCATTTAAATCTTGCAATAACTTGTACAATAGATATTATTATTTTACCCATCAAGTAAGAGTGAATTGAGGCCATGAGAGTCAAGCAACTTCCCAGGTCTGGCTGCCTTCCAAATCTCTGCGCCTTAACCACTGAGGAGTAGAGAACACAGGGCTCCAGCTGCCAAGTGCTCATTCCATTGCCCCACTTTGTTTCTTACCTATTCATTCTAAATAGGTCA
Task1_train_2539
Given a variant located on Chromosome 1 and affecting NFASC (neurofascin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction
GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCACACGATCTCGGTGAGAGTAAAGGGTACGTTGTGTGTATTTATCATTATGATTATGTTGCCAACCCTGAACACCATGCCCACCCTTCCCTCTGAGGGTGGTTGGGGGCAGAGTGAGTCGGAGAGACTTCCAGCCCACTGCTCAGTGGCAATGGCGATCTGCCATGGATGGTGTCACTCGCTGGACGTGAGAGGGTGTGTGCATGCCCGTGCATGGGGCAGGGGGTGTTAAGGAGATCCACCCTGGCCATCATCCAACTCTCCTTGGTGCCAGCGCTCCCTCAGCGGGTGAATTTCCTCCCACGGCCCATTTGGATCATTCCCAGAGCCTTTTTTTCCTTTCGTTTTGCATTCCCGTTTGTGATGTGTCACGTGAGCCCGTGCTGTCTGTGTACCTATGCATGATGCTGTGCTGCTTTTTAAAACTGGGGAGTGGTCATGGCCAAAATTATTTTCTAAAATCACTTCCTTCCCCCCAAAGCAAAGAGGGCCCACCCGAGTGATTGCAGGCACCAGAGCACGTGTCGTCATGGGTCCCCACCGTGTGTGGCAGGCTGCACTGGTCACTGTTTGGCCTGGGGCTGTATGGATGGTTGAGATAATGATGTTCGAGACCAGAGTATAGAAACTTTCTTAGCAGGCAGTCAGTTGATCTTGTGACCTTGGCTTCAGCACCATACACAAACTAAGGAGTTCTTAGACTTTGAGGGGTAGGGGGTGAGTATCAAGATTGTTGATAATCTGATCTGAAAGGCTCACTTCTCAGAAAAATCCACATTTCCACATATTCACAAAATTGTCTAAACAACTGAACAAGGTGGCCAGCTGAGAACTGCTCTAGCTGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGAAAGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAAAATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGGACATGCCTGTAATCTCAGCTACTCAAGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGCGCCACTGCGCCCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTCTAACCAAAATTCAGTGCCTAAAGAAATGTTCATTAGGCTTTTCCTAAATGGTCTGATCTTGCAAAACAGAGATCCAGAGGGACCAACTCAGTGCCCACTTTACCACCTTCCCTAGCAGTGGAGCCATTGGATGCACACCTCAAACACTGGTGACCTCTAAAAGCATCTGCCACCCAGGCCTCCTGTGAGGATTCTGATTTAGTAGGTCTGAGATAGGCCCTAACATCCCTTTTTTTAAAAAAAGCTCTTCAGGGGATTCTAGTGAGCAGCCCCAGTTTAGAACTATTGTTCTGTGAACTCAAAATAGACAGATCAGCATCTGTGCAGCCAAGCCAGCCAGAAACAGGCTGGACCAAGTTATCCCTGTGAGGATGAGCCCTGGGGCAGGTGGTGAGCACGTGGTGCTGGGACTCAGGGGCTCCTGCCATACTAGAGGGAGACTGCTTGGTTTCTTCTGCCTGTCCCATGCCATCTAACTCCCCTGCCTGTGTCTGTCTTGTCTTCCAGCTGCTCCCTACTGGCTGGACGAACCCAAGAACCTTATTCTGGCTCCTGGCGAGGATGGGAGACTGGTGTGTCGAGCCAATGGAAACCCCAAACCCACTGTCCAGTGGATGGTGAATGGGGAACCTTTGCAATGTAAGTAGCGAGCTGTTGTCCCATCTGACTCTCATCTCTCTGCTGTCAAAGGCTTCAGATCCCCATCACTGTAGCCAGTGCTGGTCACACTAGAAGTTCAGGAAGAGAGAAGCCCACTGGTGGCTGTTTCTCAGCTGCCCATCTCTTCAGACATCTCAAGAGGCAGGAAACCTACCCTCTCTTTGTGTGAGAGAACAGGAGGCCTGGAACTCTGTGGTCATATTCCCATGCTTAAGGGATTTCTGCTCCCTTGGGGTTTTTTAAATCTCTGCTTTCTCCCTCTGAACAACTTCAGAGCCCAGTTGATGGCCTGGGGACTGTGGCTGCATCTCTGGGTGGTTGGGCTTTGAGTGATGGCTGGGGCTGGGAAGGTAGAGGAGAATTCAGTAACCCATTGTTGGTTACTCAAGTTCCGCTCTCTGCTAAGGGCAAAAGAAGAAGCAGGGTTGTACAATAATGTGAAATATTATGGTTAGATATGAGGAAGAACTGCCCCCAGAAGAGCAGATGTACAAGTGCACTTTATCGAGTATGCTTAGACTTTGGGGACATTTAGTCCTGCCCAGGTGGATGGAGTAGATGACTCCAAGACCCCTTATAATCAGTGGCCTTGGTCAAGTTTTCACATCATAGACTCTCTGGTTGCATTACTTTTCAAAATGTCCTGTCCTTACTTTCTCTAAGAGGTCAGAGGAAATGTAAACAATGGTATCAACCAAATGGGGAAAAAGTAGATGGCGAGAACTCAGTCTAACTCAAGAGCAGCAGCTGGTAGAAGCAGGTGGAGAGGGGGGGACACAGGTAGAGGAGAGGGTAAGAATTTACCTATTTAGACATATATTGTATGCCACATTCTGTGCTAGATGCTGCACTCCATTGTTGCTTTACTTTCAAACATTTAAGGTAAGGAAATAAGGTTCTCCTCAGTGCAATGAGTTGCCCAAAATCGCATGGCTAGGAAGTGGTGAAGTTGTGGGTTGCTGTGAGTCTGCAATACAACTGCACCAGCTAGTACTGAACCTAGTTATCCCCAGTAAATGTTACTCCCCAGCTACAAGCAGAGATATGGACACTGCCTGCCCTCTACAGTTCTCTCCGTCTTAATAGGACTTTGGGGGTAAGCTAGGCAATTGCGCTAAACTTTACAGCACCATTCAATAAAGCAGCTCAGGACTTGCAGCTGAGCCTCAGCCCTGGAAAGGTCACCTGTCACTCTCCCCAGGGAACGTGTAAGGAGAGTGACTGGGGGGATTATTGGTTGCACGAGAATTTGCCAGGCAAGGAGGTGTACAAGTTTCTGGCATTGCCTTCCTTGGTCCCTTTTCACTGAGTGGGGACCCGGGCGTGGATGATAAGGGTGCTAACTTTGTCTTCCTTTCCCATCTGCTGATTCCCCGGTTCTGGGCTCAGGCTGGCTATCTGTGGAGTGGCGCCTGCAGGGCGACTCCTGCATCCTCCGCTGACTTCCCCTGTAGGTCTGAGTCATCTTGAATGCGTTCATGTACTCTGTAAGCTAAGTCATCAGCTTCCTAGTCCAGAAATCTTAGGAAGGAAAGTCACTTTCTAGTGGTTAAAGATGAGAAAAGTGGCAATTCTTTACATTTCTAGAAAATTTTTGTTTTTACAGCTCATTATTGTTCTCTTATCTTAGCCTTTCTTAGAGTAGGGGAAAGGTGGAAGTGATTCTTCCCCATCTTACAGAAGAAGGAAATGAGGCCCAGAAAGGTTTGTTGATTTACCCCAGATCCCAGAGTGAAGTGTGGACCCCCAGCCCTCTCCAGCCTCTGCTCTCTGCATCCCAAGCCAGCAGTACTAGAACTGTGGGCAAGAATATCCTCTCTCAGTTTAGGACACATTTTTGGGGAAGAGCTGTGAGCTTTGTCAAATAAAATGACTCATTCCATTTTCAAGAGGCATTGGCTTATGGGTTTAACTTTATGAATGTTTGGAGCATGCTCTCTTTGGAGGATGGGAAGGTGGTAGGTTCT
GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCACACGATCTCGGTGAGAGTAAAGGGTACGTTGTGTGTATTTATCATTATGATTATGTTGCCAACCCTGAACACCATGCCCACCCTTCCCTCTGAGGGTGGTTGGGGGCAGAGTGAGTCGGAGAGACTTCCAGCCCACTGCTCAGTGGCAATGGCGATCTGCCATGGATGGTGTCACTCGCTGGACGTGAGAGGGTGTGTGCATGCCCGTGCATGGGGCAGGGGGTGTTAAGGAGATCCACCCTGGCCATCATCCAACTCTCCTTGGTGCCAGCGCTCCCTCAGCGGGTGAATTTCCTCCCACGGCCCATTTGGATCATTCCCAGAGCCTTTTTTTCCTTTCGTTTTGCATTCCCGTTTGTGATGTGTCACGTGAGCCCGTGCTGTCTGTGTACCTATGCATGATGCTGTGCTGCTTTTTAAAACTGGGGAGTGGTCATGGCCAAAATTATTTTCTAAAATCACTTCCTTCCCCCCAAAGCAAAGAGGGCCCACCCGAGTGATTGCAGGCACCAGAGCACGTGTCGTCATGGGTCCCCACCGTGTGTGGCAGGCTGCACTGGTCACTGTTTGGCCTGGGGCTGTATGGATGGTTGAGATAATGATGTTCGAGACCAGAGTATAGAAACTTTCTTAGCAGGCAGTCAGTTGATCTTGTGACCTTGGCTTCAGCACCATACACAAACTAAGGAGTTCTTAGACTTTGAGGGGTAGGGGGTGAGTATCAAGATTGTTGATAATCTGATCTGAAAGGCTCACTTCTCAGAAAAATCCACATTTCCACATATTCACAAAATTGTCTAAACAACTGAACAAGGTGGCCAGCTGAGAACTGCTCTAGCTGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGAAAGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAAAATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGGACATGCCTGTAATCTCAGCTACTCAAGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGCGCCACTGCGCCCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTCTAACCAAAATTCAGTGCCTAAAGAAATGTTCATTAGGCTTTTCCTAAATGGTCTGATCTTGCAAAACAGAGATCCAGAGGGACCAACTCAGTGCCCACTTTACCACCTTCCCTAGCAGTGGAGCCATTGGATGCACACCTCAAACACTGGTGACCTCTAAAAGCATCTGCCACCCAGGCCTCCTGTGAGGATTCTGATTTAGTAGGTCTGAGATAGGCCCTAACATCCCTTTTTTTAAAAAAAGCTCTTCAGGGGATTCTAGTGAGCAGCCCCAGTTTAGAACTATTGTTCTGTGAACTCAAAATAGACAGATCAGCATCTGTGCAGCCAAGCCAGCCAGAAACAGGCTGGACCAAGTTATCCCTGTGAGGATGAGCCCTGGGGCAGGTGGTGAGCACGTGGTGCTGGGACTCAGGGGCTCCTGCCATACTAGAGGGAGACTGCTTGGTTTCTTCTGCCTGTCCCATGCCATCTAACTCCCCTGCCTGTGTCTGTCTTGTCTTCCAGCTGCTCCCTACTGGCTGGACGAACCCAAGAACCTTATTCTGGCTCCTGGCGAGGATGGGAGACTGGTGTGTCCAGCCAATGGAAACCCCAAACCCACTGTCCAGTGGATGGTGAATGGGGAACCTTTGCAATGTAAGTAGCGAGCTGTTGTCCCATCTGACTCTCATCTCTCTGCTGTCAAAGGCTTCAGATCCCCATCACTGTAGCCAGTGCTGGTCACACTAGAAGTTCAGGAAGAGAGAAGCCCACTGGTGGCTGTTTCTCAGCTGCCCATCTCTTCAGACATCTCAAGAGGCAGGAAACCTACCCTCTCTTTGTGTGAGAGAACAGGAGGCCTGGAACTCTGTGGTCATATTCCCATGCTTAAGGGATTTCTGCTCCCTTGGGGTTTTTTAAATCTCTGCTTTCTCCCTCTGAACAACTTCAGAGCCCAGTTGATGGCCTGGGGACTGTGGCTGCATCTCTGGGTGGTTGGGCTTTGAGTGATGGCTGGGGCTGGGAAGGTAGAGGAGAATTCAGTAACCCATTGTTGGTTACTCAAGTTCCGCTCTCTGCTAAGGGCAAAAGAAGAAGCAGGGTTGTACAATAATGTGAAATATTATGGTTAGATATGAGGAAGAACTGCCCCCAGAAGAGCAGATGTACAAGTGCACTTTATCGAGTATGCTTAGACTTTGGGGACATTTAGTCCTGCCCAGGTGGATGGAGTAGATGACTCCAAGACCCCTTATAATCAGTGGCCTTGGTCAAGTTTTCACATCATAGACTCTCTGGTTGCATTACTTTTCAAAATGTCCTGTCCTTACTTTCTCTAAGAGGTCAGAGGAAATGTAAACAATGGTATCAACCAAATGGGGAAAAAGTAGATGGCGAGAACTCAGTCTAACTCAAGAGCAGCAGCTGGTAGAAGCAGGTGGAGAGGGGGGGACACAGGTAGAGGAGAGGGTAAGAATTTACCTATTTAGACATATATTGTATGCCACATTCTGTGCTAGATGCTGCACTCCATTGTTGCTTTACTTTCAAACATTTAAGGTAAGGAAATAAGGTTCTCCTCAGTGCAATGAGTTGCCCAAAATCGCATGGCTAGGAAGTGGTGAAGTTGTGGGTTGCTGTGAGTCTGCAATACAACTGCACCAGCTAGTACTGAACCTAGTTATCCCCAGTAAATGTTACTCCCCAGCTACAAGCAGAGATATGGACACTGCCTGCCCTCTACAGTTCTCTCCGTCTTAATAGGACTTTGGGGGTAAGCTAGGCAATTGCGCTAAACTTTACAGCACCATTCAATAAAGCAGCTCAGGACTTGCAGCTGAGCCTCAGCCCTGGAAAGGTCACCTGTCACTCTCCCCAGGGAACGTGTAAGGAGAGTGACTGGGGGGATTATTGGTTGCACGAGAATTTGCCAGGCAAGGAGGTGTACAAGTTTCTGGCATTGCCTTCCTTGGTCCCTTTTCACTGAGTGGGGACCCGGGCGTGGATGATAAGGGTGCTAACTTTGTCTTCCTTTCCCATCTGCTGATTCCCCGGTTCTGGGCTCAGGCTGGCTATCTGTGGAGTGGCGCCTGCAGGGCGACTCCTGCATCCTCCGCTGACTTCCCCTGTAGGTCTGAGTCATCTTGAATGCGTTCATGTACTCTGTAAGCTAAGTCATCAGCTTCCTAGTCCAGAAATCTTAGGAAGGAAAGTCACTTTCTAGTGGTTAAAGATGAGAAAAGTGGCAATTCTTTACATTTCTAGAAAATTTTTGTTTTTACAGCTCATTATTGTTCTCTTATCTTAGCCTTTCTTAGAGTAGGGGAAAGGTGGAAGTGATTCTTCCCCATCTTACAGAAGAAGGAAATGAGGCCCAGAAAGGTTTGTTGATTTACCCCAGATCCCAGAGTGAAGTGTGGACCCCCAGCCCTCTCCAGCCTCTGCTCTCTGCATCCCAAGCCAGCAGTACTAGAACTGTGGGCAAGAATATCCTCTCTCAGTTTAGGACACATTTTTGGGGAAGAGCTGTGAGCTTTGTCAAATAAAATGACTCATTCCATTTTCAAGAGGCATTGGCTTATGGGTTTAACTTTATGAATGTTTGGAGCATGCTCTCTTTGGAGGATGGGAAGGTGGTAGGTTCT
Task1_train_2540
Here is a variant affecting NFASC (neurofascin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction
ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACGTGGGGGGTTGGAAAGATCACTCTGACACTGTGGCGGGGGCCTGCTGGGAGCAGGAGTGGAAGCAGGGATGGGACTTTTCTCTGCAGCCTACCTAGATCATGGTACTCACAAGCCTTGTTCTCGCAGGCCTCACCTGCTTTTCAGCCCGGGGCGCCCTGGGCAACCAGAGTGCAGAGGACACGTGTTCATCAGTCTTCACCCCGTACTGGCAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAATCAGTCTTCACCCCGTACTGGGAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAAACAGTTTCTGCCCCCAAGAGGAGCAAAGGGTGGGCTTGCACCCAGATAACTGCCCCACAAATGGCATGTGCTGAAGACCTGGGGGCGCAGGTGCTGTGGCCCTCATGCTTTTCCCCGTGCTCCTGGAAGGAGGCTCAGTGCCTTGGCGCCAGCTCCATGGTTCTTGGGGCTCCTGCTGTTGTGTGCCTCTCCCCAGGTGTCTCTGGGCTGGCTGGTTCCAGGGTTACTCTGGGTGTATTCAGTTCCTTTGATCCTTCCCTTCTGTCACAGTCTCACGTTCTGTGACAGGCTGCATTTCAGGAGGGGTCGCTTTTGTTCTCCAGCCGGTAGAAAGGAGAAGGGTGAGTTGGTACTGACCACACCCCCCCTCCCAAACCCAAACCCAGCCATTGGGTCATCAAGGACACCCTCAGGTGACTCCTTAGCACCTGTACTTCAGGCCGTCCTGCAGGCCTTTTAAATCACAAAGGGATCTGCCCACTTTGAAACAGGTCTGCACATACGCTGGGCATGGACAGAGAGGGACTCACTGTCACAGGGGTTGGAGGGGGAACATCGGCTTGTCACAGACCACCGGGGGGGTCACCCTGTGTGGAGTAGCCTGGAAGTGGCATGGAGTGAGCAGAAGGCACAGCCCCAGCCCCACATCGCTGCTGGCCTGGCTAGGGGTACCCACACCAGGATTGCCTTTGCTGTCAGGAAGCGCAGGATCCACTAGAGAGATGTGAAAAGATGACAGGGCATCCTGGGCCTCCACTTGGTCCAGTCCCCACCCTCAGGAAGCCTGGATGGCTTCAGAGCCATGCTGGTGGGCAGGGATGCTGCCGTGTGCCTGTGCAGGCCTGCGAAGGTGTTCTCATAGCAGGTTTTTGCAACGTGGCCACGGCCTGCACTCCCTGATGGGTAGCTTGCCGGCTCCCATTTCTCCACCCTGGACTCATCCATGGGGAATCATACTTCCATGGCCAATCCGTGGCCATCCCTCAGTCCCCATTAGGCTGTGACCAGCCCTCTGGTTTCCAAGAATGCCGTGCTTCATCCCTATGACACTTTCCCCTTCCTAAAGGACCTGTTCAACCTTCTGCTTATTTGCTCCTTGTACCCCTTTCCTTTGCCTCTTTTCTGATCTTTTGACCTTGGCTCTTTAATTATTTTCTTTTTGTCCTTTAGCAGGGTAGTTTGGGCCAGGGGGCTGCTAGGTGGTAGTGTTAGGCTCCAGGAGAAACATCCACATGAGATAGCTGAAGTTCTTCCCTCCATCTCCCTCCTCACCATCTCCCCCATGAAATCATTCACGGGTTTGCTTCCGGCCCTCCCCGCCAGCTTACACCAACAACCAAGCGGACATCGCCACCCAGGGCTGGTTCATTGGGCTTATGTGCGCCATCGCCCTCCTGGTGCTGATCCTGCTCATCGTCTGTTTCATCAAGAGGAGTCGCGGCGGCAAGTACCCAGGTGAGATGTGCAAGAGGCGTGGGCTTGCAGGGTGGGGCACGTCCACTTTCCCGTGAGTCTCCAGGTCTCCAGCCAGATCCGGGGAATGTGTTCTCTCAGTGAAGCCAGCCCTTGCCCGGATTGGAAATACAATCCTCTTGCCTGTGCATCTTCAGACTGCCAGCGAGCACTTGAGTTAATTAAGTTCGCCTGAGTTGGGCGGATGGCACAGTCCAGGCGGCCTCAGAGAGGGGATGGAAGGAACCCTGGCTCCTATTAAGAATGACCTTTCCTCCCCTTGACTCACCACCCATCTGTTCTATAAATTGGCTTTTTTTCAGCCTGAATCTCATTAGGATCCTGTGTCCCAGGGAAGGAGAAAGGAAGAGAGGCATTTTCCCTAACCGTGTCCCAGAGAATGGGGAGAGGAGGGGCCTGGGCAGAAGCAGCACCCACATGAGAGAGTTCCAGAGGTGGGCGCTCAGCAGGACAACAGTGTAACTGCCAATACCACTAGCAAGGGTCAGAAGCGAGGAGCAGGGAGAGGCTGAAGATGGGTGGCACTGGTAGGGACCCCCATGGCCCTAAAGCACTTTGGGCTTCCCTAAAATCCCAAGGATACCTCAAGATCCTTCAGCCCCTAGCCAGGCACAATGACTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGAGCAGGTCACTTAAGGTCAGGAGTTTGAGGCCAGCCCAACCAACATGACGAAACTCCGTCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCAGGTGTCGGAGGTCCCAGCTATTCAACAGGCTGAGGTGGGAGGATTACCTGAGCCTGGAGAGGTCAAGGCTGCCATGAGGCGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAATAAATAAAATTTTTTAAAAGATCCTCCAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACCAAAAATACAAAAAATTAGCTGGGTGTTTTGGCACGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAAAAAAGGAAAAAAAAAAAAAAAGATCCTGCAGCCCAGACATAACCAAGGTCAAGGATAAGGACCTCTGGCATTCTTGTTTCTGGAAATATTGACTGTTTTTTACACAGGAGCAAGAGAGCCATCTGTCTGTGATGGGGTGGGTAGGGACAGGAGACAGGATAATGGATGACCCTGAAAGCAAAGATCTGGCTGGACCACAGAATGCAATTTCTCCCTGCTCCAGAAAGCCCCATCACCAAACACAACCCATGCTCCCCAAATGCTTCCTTCTCCCCATCTCTTAGAACAGGTCCTCCCCCAGGACCCCCCCCAAAACTCAACACAAAGGAAATAGAAGGGAGAGGAGACTGGATTCTTTTTCATTCCCCATGCCCAAGTACCCACAGACTAGGACTCTGAAGAGCTGTGCCTTAAGTGAGGGAGGGCAGGAAATGATTGTCCCTTACTGGTGAGCGATGTTTTCTTTCACTCTGTTCTGCTGTGCTGGGCCTGTCTGGTTCTGTAACAGAGAAAGCCTGAGTTAGGGAAAAGGCTGCCTCCTCCGTCTGACAGTCAGACTTGGGTGGACTGAGTTCACGCCCATTCCAGGTGGAAGTGGAATACTGGAAGAACCCAGCAGATCAACTCTGAGCTGCCCTTTGCCCTTTCAGAAAGTATCTCATTCCAAACAGTTCTTCGAAACTAACCTCTTGCCCTCCAGCTACAGAGTAAGCCCCTGGTCCCTTAAAAAGATGAGTGAACCAGGAGCTACAAGGCCTGGTTGCTAGCCTTCCCT
ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACGTGGGGGGTTGGAAAGATCACTCTGACACTGTGGCGGGGGCCTGCTGGGAGCAGGAGTGGAAGCAGGGATGGGACTTTTCTCTGCAGCCTACCTAGATCATGGTACTCACAAGCCTTGTTCTCGCAGGCCTCACCTGCTTTTCAGCCCGGGGCGCCCTGGGCAACCAGAGTGCAGAGGACACGTGTTCATCAGTCTTCACCCCGTACTGGCAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAATCAGTCTTCACCCCGTACTGGGAACTTTCTTGGTGCAATGCCCTTGACTGGGCACTGGGAAGGCTGTAAAAACAGTTTCTGCCCCCAAGAGGAGCAAAGGGTGGGCTTGCACCCAGATAACTGCCCCACAAATGGCATGTGCTGAAGACCTGGGGGCGCAGGTGCTGTGGCCCTCATGCTTTTCCCCGTGCTCCTGGAAGGAGGCTCAGTGCCTTGGCGCCAGCTCCATGGTTCTTGGGGCTCCTGCTGTTGTGTGCCTCTCCCCAGGTGTCTCTGGGCTGGCTGGTTCCAGGGTTACTCTGGGTGTATTCAGTTCCTTTGATCCTTCCCTTCTGTCACAGTCTCACGTTCTGTGACAGGCTGCATTTCAGGAGGGGTCGCTTTTGTTCTCCAGCCGGTAGAAAGGAGAAGGGTGAGTTGGTACTGACCACACCCCCCCTCCCAAACCCAAACCCAGCCATTGGGTCATCAAGGACACCCTCAGGTGACTCCTTAGCACCTGTACTTCAGGCCGTCCTGCAGGCCTTTTAAATCACAAAGGGATCTGCCCACTTTGAAACAGGTCTGCACATACGCTGGGCATGGACAGAGAGGGACTCACTGTCACAGGGGTTGGAGGGGGAACATCGGCTTGTCACAGACCACCGGGGGGGTCACCCTGTGTGGAGTAGCCTGGAAGTGGCATGGAGTGAGCAGAAGGCACAGCCCCAGCCCCACATCGCTGCTGGCCTGGCTAGGGGTACCCACACCAGGATTGCCTTTGCTGTCAGGAAGCGCAGGATCCACTAGAGAGATGTGAAAAGATGACAGGGCATCCTGGGCCTCCACTTGGTCCAGTCCCCACCCTCAGGAAGCCTGGATGGCTTCAGAGCCATGCTGGTGGGCAGGGATGCTGCCGTGTGCCTGTGCAGGCCTGCGAAGGTGTTCTCATAGCAGGTTTTTGCAACGTGGCCACGGCCTGCACTCCCTGATGGGTAGCTTGCCGGCTCCCATTTCTCCACCCTGGACTCATCCATGGGGAATCATACTTCCATGGCCAATCCGTGGCCATCCCTCAGTCCCCATTAGGCTGTGACCAGCCCTCTGGTTTCCAAGAATGCCGTGCTTCATCCCTATGACACTTTCCCCTTCCTAAAGGACCTGTTCAACCTTCTGCTTATTTGCTCCTTGTACCCCTTTCCTTTGCCTCTTTTCTGATCTTTTGACCTTGGCTCTTTAATTATTTTCTTTTTGTCCTTTAGCAGGGTAGTTTGGGCCAGGGGGCTGCTAGGTGGTAGTGTTAGGCTCCAGGAGAAACATCCACATGAGATAGCTGAAGTTCTTCCCTCCATCTCCCTCCTCACCATCTCCCCCATGAAATCATTCACGGGTTTGCTTCCGGCCCTCCCCGCCAGCTTACACCAACAACCAAGCGGACATCGCCACCCAGGGCTGGTTCATTGGGCTTATGTGCGCCATCGCCCTCCTGGAGCTGATCCTGCTCATCGTCTGTTTCATCAAGAGGAGTCGCGGCGGCAAGTACCCAGGTGAGATGTGCAAGAGGCGTGGGCTTGCAGGGTGGGGCACGTCCACTTTCCCGTGAGTCTCCAGGTCTCCAGCCAGATCCGGGGAATGTGTTCTCTCAGTGAAGCCAGCCCTTGCCCGGATTGGAAATACAATCCTCTTGCCTGTGCATCTTCAGACTGCCAGCGAGCACTTGAGTTAATTAAGTTCGCCTGAGTTGGGCGGATGGCACAGTCCAGGCGGCCTCAGAGAGGGGATGGAAGGAACCCTGGCTCCTATTAAGAATGACCTTTCCTCCCCTTGACTCACCACCCATCTGTTCTATAAATTGGCTTTTTTTCAGCCTGAATCTCATTAGGATCCTGTGTCCCAGGGAAGGAGAAAGGAAGAGAGGCATTTTCCCTAACCGTGTCCCAGAGAATGGGGAGAGGAGGGGCCTGGGCAGAAGCAGCACCCACATGAGAGAGTTCCAGAGGTGGGCGCTCAGCAGGACAACAGTGTAACTGCCAATACCACTAGCAAGGGTCAGAAGCGAGGAGCAGGGAGAGGCTGAAGATGGGTGGCACTGGTAGGGACCCCCATGGCCCTAAAGCACTTTGGGCTTCCCTAAAATCCCAAGGATACCTCAAGATCCTTCAGCCCCTAGCCAGGCACAATGACTCACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGAGCAGGTCACTTAAGGTCAGGAGTTTGAGGCCAGCCCAACCAACATGACGAAACTCCGTCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCAGGTGTCGGAGGTCCCAGCTATTCAACAGGCTGAGGTGGGAGGATTACCTGAGCCTGGAGAGGTCAAGGCTGCCATGAGGCGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAATAAATAAAATTTTTTAAAAGATCCTCCAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACCAAAAATACAAAAAATTAGCTGGGTGTTTTGGCACGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGTGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAAAAAAGGAAAAAAAAAAAAAAAGATCCTGCAGCCCAGACATAACCAAGGTCAAGGATAAGGACCTCTGGCATTCTTGTTTCTGGAAATATTGACTGTTTTTTACACAGGAGCAAGAGAGCCATCTGTCTGTGATGGGGTGGGTAGGGACAGGAGACAGGATAATGGATGACCCTGAAAGCAAAGATCTGGCTGGACCACAGAATGCAATTTCTCCCTGCTCCAGAAAGCCCCATCACCAAACACAACCCATGCTCCCCAAATGCTTCCTTCTCCCCATCTCTTAGAACAGGTCCTCCCCCAGGACCCCCCCCAAAACTCAACACAAAGGAAATAGAAGGGAGAGGAGACTGGATTCTTTTTCATTCCCCATGCCCAAGTACCCACAGACTAGGACTCTGAAGAGCTGTGCCTTAAGTGAGGGAGGGCAGGAAATGATTGTCCCTTACTGGTGAGCGATGTTTTCTTTCACTCTGTTCTGCTGTGCTGGGCCTGTCTGGTTCTGTAACAGAGAAAGCCTGAGTTAGGGAAAAGGCTGCCTCCTCCGTCTGACAGTCAGACTTGGGTGGACTGAGTTCACGCCCATTCCAGGTGGAAGTGGAATACTGGAAGAACCCAGCAGATCAACTCTGAGCTGCCCTTTGCCCTTTCAGAAAGTATCTCATTCCAAACAGTTCTTCGAAACTAACCTCTTGCCCTCCAGCTACAGAGTAAGCCCCTGGTCCCTTAAAAAGATGAGTGAACCAGGAGCTACAAGGCCTGGTTGCTAGCCTTCCCT
Task1_train_2541
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?
Pathogenic; Nephronophthisis-like nephropathy 2
CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACCTATCCTTGGAGATGAAGGGAAGCACCATGGCTCTCAGGAGTTCCTCACCATCCAGTCCTTGCCTCCCTTGACAGGATTAGGTGCTGCTCATAACATTCTGACTGGGCACAGTGACTCCAGAACAAGCTGGTGGTACTGGGTCAGGCAACCACCTCCTGTACCTGCCCTCTAAGTTGGCCGGAGGAGCAGCCTGCAGGACTATCTGCCTCTGAGGACCTCTGTTGTTCTGCCCACTCAGCATTTACTTCCCTTTCTGGTGATAGCACTGGGCTCCTCCACAGGGAACCACCTCTCTCAAGCTCAGTGACTGTGGCTCAGGTGACAATGCCTCAATGATAGCTAGGCTCCAGGTCCATCCAATCAGAGGATTGCAGCCCCAAGGCCACGCTGACTGGTTTGGAGATAATCATGTCACCAGATGAGAAGCAGTGGAACTCTATTCTGGGACTTTGTGGAACTGTTGGGGGAAGAATCTCTCTTCCCACTGGAATTTGTAGGAGTAAGAAAAGCATAAACCTGGGCTGTAGGCCATGACAGAGAAGAGCAGAGCTAAGAGTCACAGAGTACTGGGGCCCTGATCTTAGGTATGTCGCTGAATTCAGCTGTGCCTTTTTGGTTCTCCAGGCCAATACATTCTGCCTTGGAATGAAACCCAGTTCAGATGGTTTCTGTCATTTTCAACAGAAGGACATGTGACTGAAACACTAATGAACACATTTCTAGGGTCTGACCCCCACCCCATCTCTCCAGGGTTTAAAAAGAAGTCTGTGGAAGGGTTGGAGTGGGGTAGGAGTGGATACTCAGGGCCCCAGCCTACCTGCTGATGGCCATGGCAATGATAACAGGCTCCCAGCCCGAGTACAACACCTCCCTTGTGGCTGGACTTCGTCGGGCCAGCACCACCCAGACAGGCAGCAGGGCCACAAAGAAAGCACACACCAGTGGGTAGATGTATCGCCAGTGATCTGAGAGGGCAGAGGTCAGAAGGAGATAAGCACTGTGTTTCCCTACCCTAAGTTTCTCCCTGGCTCAGCCTGAAAATGTCCCAACAGATCAATAGCAAGACTACACTAAATGCCAGTAAACACATTATCCCATTTGATCTTCACTGGCAGCTCAGGAGGTAGGTGGGACAAGCCTTTTCCATTTTATGGATGAGGAAACCAAGGGAGAGAGCTAGCCAGGCACTGAGCCAATTAGGGACAGAGACCAGAGGACAGAGACTCTAGGTCTCTTGATTGGAGCCCAGAAAACACCATCTCCCACCCGCTTCTTCATTTTGCAAGCAGATCTAAGCCTCTGGTTCCTTTCCTTTACCCTTTCCACCTCATCCCTCCAAGAGAAGTAAGAATCTGCAGGACCACACAGGAATATACTTCTGATACTTTTCCCCTGCCCCTGATGCCTGCTTGAATTTGAGATCAGTACTTAGCTTCAAATCTCTAAGATCAGGAATTATTACAACCTGTGTTCAAACCAAATAGTTTAAGAACACAGAAGAAACTCTTGCACATTTGCAAACTACTACCATCTCTCCCAACCCCACCCAGGACTCCAAGAAGCCACACTCTTGGTGGCTCACTCAGTTCCAGGTAGAGTCCCCAGCTGATGCCTGAGAGCAGCGCCAAGGTGATGAGGTCGCCCAGGCTGGCAGCAATGGGTGTGGCCACGTTGTCTGGGTTGATCCCAATCTTGCGAGAGCCAATGATGACTCCAATCATGATCATACCTGGTGAGCAAGTGGGAGGAGGGGCAGGCAGGGTGAGAAGAGATAAAGGAGTCTCAACAAACAAAAAGAGAGAGTGGAAGTGCCAGGTGCAGTGTTCTCTGGGGCGGCACTCCTTACTCCTCTATGCCCTCCCTTTCTTACCCAGTACCAGGGAGGCAATGAAGGCTGTGGCCACGCTGCTAGCACAGAGCAGGAAGGCGTGCGGAATACTGAAGTGGCCATCAGGGATCCAGCCAAAGACGACGGCTGCGATGGACGCCAGGAAGCCCACCACCGTGGCCTGCACCTGGGGACAGGAGTGGTAACTCAGAAAGCCCTGAGAGCAGTGGGCTTCCTAAGCTGAGGTCATAAGCATCTGGGCAGACCTCTTCCTGGCTGGCAGTAGCCCCAGGAGGCAGGCTGGACTGCATGGTCCAGTCCTCCCAGGCTGGAAGGATGTCTTTATTTATTTAGGTTCACACCAGCCACTAGTACTGGGCAGTGCACTCTGCAGGAGCCCAGAACATGTTACTGGCTGAATGAGTGTGCCTCTGGGGATGGGAGTGAGGTTCAACAGAGCCGGAGACTTCCACCCAGAGTCAAGGCCTGGGCCTCAAGGGGGAAGGCTCCCAGTCTGAACCTGTGTGGTCTCATGGGGAGATGGGACAGCAGTGGCACAGGACATCTCAGCACTCCTGAGTCTGCTCATATTGCCAGGATCTGCTGGGACTCAAAGGCACGTGCACCACCAAGAACTGAGAACCAGAATGGGTGATGCTGGGCCCTCCTCATCTTGGGCGTTTTCCTGGGTAACCTAGTTACCTCCTAGAGCTACTCTGGGGGAAGCCAGCTCAGTGGGATACTGGAGATTCACTCAGGAGCCTGCTGGGGCTGACCTAAGCCTTTCAGAGATTCCTGACTAAGGGGAAGCTTAGCCCACCCTCTCTGGTCCCTGCCTTCTTACCTGGATGAGGGCCATGTTCCCAGTGATCATCCGCCAGAGCTCCTTGGGTGTGTCCATGTGTCCAATGTTGGCCTGGGAAAGGGAGGGCAAGGGGCTGGAGCTTCAGGCTGGAAAAGGCCTGAAGCTCCATCCATTAGGCTCCTGCCTAGATCATGAGGCAGTACATGTGGCCTAAGACTCTGAGAGCAGGACCTGACAGTCCCGGAAAGGTGAAGCAGGATCAGGGAAACTGAGGTGAAAGGGAAGGAGCTAAAGCTGGGCTCCTGCAGCTGGGTGGGGGGTTGGAAGGGGGTCCCCTAGGCAGTCGCCTCTCTTCCTCTCAGGACACCAGCTGAGCAGAGGCAAATTCTATCCTTTGCCCTGCTTATCTGGGCAGCCCATTCCTGCATGGGTCAGAACAACCCAGTCCCTGACTCTGAAGCCAGCCTGCGATCCCAGGGAAGGAAAGGTCAGCTGCTGGTGCAGGACTGAGGCTCCAAGAGTATTTGGGAAGGAGTGGGTGGCATGGGCCAGAAGTCGGGTATGGCAAGTCAGGGTGGGTTAACTTGGATGCCACTTCTGTCTGTCACCTTCTCTAGACTCTTGACCCTGCAGGGAGATCCCTGGCCTCCTGAGTTTTATCATCTCCCACCTCCAGCCCAGGGCCCTGTATCTGTTCAGGCCCGGAATCGTCACGGCTCACAACTGTGGGAGGTAGGAATGACGAGCAGCTCCTCTCTGTCTGTTTCCTTAAAGAAGAGCAAGCTGCCATGGGTAAAGGGAATGGGATGGCCGGGGGGCTGGGGGTGCTGGGAGGGCCTGGCTCTGCTCCCGCCCAGCTGCAAAGCAGGGGCTGGAGATCAGAGGAGGCCCCCATCTGTGCGGGTGGAGGAACCAGCATGATGCCTGCCTGTCAAAGCTGCACAAACAGTCACGAGGTGGTTGAGAGGTAGGGGGTGGGGCAGGAGTCCAGGGGTGGCTGGGACATCCAGAAACCAAGCCTGGGAACCACTTTGGGCAGGGAGCCCCTGCCCAGGAGCAGGACACCCAGCCTGGGATCTCCCTACACCTGCCCAGCCAGGCCCTCCCTTCCCACCCCAGCCCCACACTCCAGGCCTGGGCAGT
CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACCTATCCTTGGAGATGAAGGGAAGCACCATGGCTCTCAGGAGTTCCTCACCATCCAGTCCTTGCCTCCCTTGACAGGATTAGGTGCTGCTCATAACATTCTGACTGGGCACAGTGACTCCAGAACAAGCTGGTGGTACTGGGTCAGGCAACCACCTCCTGTACCTGCCCTCTAAGTTGGCCGGAGGAGCAGCCTGCAGGACTATCTGCCTCTGAGGACCTCTGTTGTTCTGCCCACTCAGCATTTACTTCCCTTTCTGGTGATAGCACTGGGCTCCTCCACAGGGAACCACCTCTCTCAAGCTCAGTGACTGTGGCTCAGGTGACAATGCCTCAATGATAGCTAGGCTCCAGGTCCATCCAATCAGAGGATTGCAGCCCCAAGGCCACGCTGACTGGTTTGGAGATAATCATGTCACCAGATGAGAAGCAGTGGAACTCTATTCTGGGACTTTGTGGAACTGTTGGGGGAAGAATCTCTCTTCCCACTGGAATTTGTAGGAGTAAGAAAAGCATAAACCTGGGCTGTAGGCCATGACAGAGAAGAGCAGAGCTAAGAGTCACAGAGTACTGGGGCCCTGATCTTAGGTATGTCGCTGAATTCAGCTGTGCCTTTTTGGTTCTCCAGGCCAATACATTCTGCCTTGGAATGAAACCCAGTTCAGATGGTTTCTGTCATTTTCAACAGAAGGACATGTGACTGAAACACTAATGAACACATTTCTAGGGTCTGACCCCCACCCCATCTCTCCAGGGTTTAAAAAGAAGTCTGTGGAAGGGTTGGAGTGGGGTAGGAGTGGATACTCAGGGCCCCAGCCTACCTGCTGATGGCCATGGCAATGATAACAGGCTCCCAGCCCGAGTACAACACCTCCCTTGTGGCTGGACTTCGTCGGGCCAGCACCACCCAGACAGGCAGCAGGGCCACAAAGAAAGCACACACCAGTGGGTAGATGTATCGCCAGTGATCTGAGAGGGCAGAGGTCAGAAGGAGATAAGCACTGTGTTTCCCTACCCTAAGTTTCTCCCTGGCTCAGCCTGAAAATGTCCCAACAGATCAATAGCAAGACTACACTAAATGCCAGTAAACACATTATCCCATTTGATCTTCACTGGCAGCTCAGGAGGTAGGTGGGACAAGCCTTTTCCATTTTATGGATGAGGAAACCAAGGGAGAGAGCTAGCCAGGCACTGAGCCAATTAGGGACAGAGACCAGAGGACAGAGACTCTAGGTCTCTTGATTGGAGCCCAGAAAACACCATCTCCCACCCGCTTCTTCATTTTGCAAGCAGATCTAAGCCTCTGGTTCCTTTCCTTTACCCTTTCCACCTCATCCCTCCAAGAGAAGTAAGAATCTGCAGGACCACACAGGAATATACTTCTGATACTTTTCCCCTGCCCCTGATGCCTGCTTGAATTTGAGATCAGTACTTAGCTTCAAATCTCTAAGATCAGGAATTATTACAACCTGTGTTCAAACCAAATAGTTTAAGAACACAGAAGAAACTCTTGCACATTTGCAAACTACTACCATCTCTCCCAACCCCACCCAGGACTCCAAGAAGCCACACTCTTGGTGGCTCACTCAGTTCCAGGTAGAGTCCCCAGCTGATGCCTGAGAGCAGCGCCAAGGTGATGAGGTCGCCCAGGCTGGCAGCAATGGGTGTGGCCACGTTGTCTGGGTTGATCCCAATCTTGCGAGAGCCAATGATGACTCCAATCATGATCATAACTGGTGAGCAAGTGGGAGGAGGGGCAGGCAGGGTGAGAAGAGATAAAGGAGTCTCAACAAACAAAAAGAGAGAGTGGAAGTGCCAGGTGCAGTGTTCTCTGGGGCGGCACTCCTTACTCCTCTATGCCCTCCCTTTCTTACCCAGTACCAGGGAGGCAATGAAGGCTGTGGCCACGCTGCTAGCACAGAGCAGGAAGGCGTGCGGAATACTGAAGTGGCCATCAGGGATCCAGCCAAAGACGACGGCTGCGATGGACGCCAGGAAGCCCACCACCGTGGCCTGCACCTGGGGACAGGAGTGGTAACTCAGAAAGCCCTGAGAGCAGTGGGCTTCCTAAGCTGAGGTCATAAGCATCTGGGCAGACCTCTTCCTGGCTGGCAGTAGCCCCAGGAGGCAGGCTGGACTGCATGGTCCAGTCCTCCCAGGCTGGAAGGATGTCTTTATTTATTTAGGTTCACACCAGCCACTAGTACTGGGCAGTGCACTCTGCAGGAGCCCAGAACATGTTACTGGCTGAATGAGTGTGCCTCTGGGGATGGGAGTGAGGTTCAACAGAGCCGGAGACTTCCACCCAGAGTCAAGGCCTGGGCCTCAAGGGGGAAGGCTCCCAGTCTGAACCTGTGTGGTCTCATGGGGAGATGGGACAGCAGTGGCACAGGACATCTCAGCACTCCTGAGTCTGCTCATATTGCCAGGATCTGCTGGGACTCAAAGGCACGTGCACCACCAAGAACTGAGAACCAGAATGGGTGATGCTGGGCCCTCCTCATCTTGGGCGTTTTCCTGGGTAACCTAGTTACCTCCTAGAGCTACTCTGGGGGAAGCCAGCTCAGTGGGATACTGGAGATTCACTCAGGAGCCTGCTGGGGCTGACCTAAGCCTTTCAGAGATTCCTGACTAAGGGGAAGCTTAGCCCACCCTCTCTGGTCCCTGCCTTCTTACCTGGATGAGGGCCATGTTCCCAGTGATCATCCGCCAGAGCTCCTTGGGTGTGTCCATGTGTCCAATGTTGGCCTGGGAAAGGGAGGGCAAGGGGCTGGAGCTTCAGGCTGGAAAAGGCCTGAAGCTCCATCCATTAGGCTCCTGCCTAGATCATGAGGCAGTACATGTGGCCTAAGACTCTGAGAGCAGGACCTGACAGTCCCGGAAAGGTGAAGCAGGATCAGGGAAACTGAGGTGAAAGGGAAGGAGCTAAAGCTGGGCTCCTGCAGCTGGGTGGGGGGTTGGAAGGGGGTCCCCTAGGCAGTCGCCTCTCTTCCTCTCAGGACACCAGCTGAGCAGAGGCAAATTCTATCCTTTGCCCTGCTTATCTGGGCAGCCCATTCCTGCATGGGTCAGAACAACCCAGTCCCTGACTCTGAAGCCAGCCTGCGATCCCAGGGAAGGAAAGGTCAGCTGCTGGTGCAGGACTGAGGCTCCAAGAGTATTTGGGAAGGAGTGGGTGGCATGGGCCAGAAGTCGGGTATGGCAAGTCAGGGTGGGTTAACTTGGATGCCACTTCTGTCTGTCACCTTCTCTAGACTCTTGACCCTGCAGGGAGATCCCTGGCCTCCTGAGTTTTATCATCTCCCACCTCCAGCCCAGGGCCCTGTATCTGTTCAGGCCCGGAATCGTCACGGCTCACAACTGTGGGAGGTAGGAATGACGAGCAGCTCCTCTCTGTCTGTTTCCTTAAAGAAGAGCAAGCTGCCATGGGTAAAGGGAATGGGATGGCCGGGGGGCTGGGGGTGCTGGGAGGGCCTGGCTCTGCTCCCGCCCAGCTGCAAAGCAGGGGCTGGAGATCAGAGGAGGCCCCCATCTGTGCGGGTGGAGGAACCAGCATGATGCCTGCCTGTCAAAGCTGCACAAACAGTCACGAGGTGGTTGAGAGGTAGGGGGTGGGGCAGGAGTCCAGGGGTGGCTGGGACATCCAGAAACCAAGCCTGGGAACCACTTTGGGCAGGGAGCCCCTGCCCAGGAGCAGGACACCCAGCCTGGGATCTCCCTACACCTGCCCAGCCAGGCCCTCCCTTCCCACCCCAGCCCCACACTCCAGGCCTGGGCAGT
Task1_train_2542
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?
Pathogenic; Protein-losing enteropathy
AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTAAAGAAGTCTAAGGGTCAGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGACAGAGGCAGGTGGACCACTTGAGGTCAGGAGATTGAGAGTAGCCTGGCCAACATGATGAAACCCTGACTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTTCTTGGAAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGTCACCGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAAGGATAAGAAATATCAATGGTTCAGATGATGAATTTACATATATGTGCTTGATAATTTTTTCAAAATTTTTACCTGAGCTTTATTGAGGTATAATCGACAAATATTATCTTAGGTGTACAACATGATGTTTTGATATATGTGCACATTGTGAAATGATTAACACAGTCAAGCTAATTAACATATCTACCACCTCACATAGTTACCTTCTTTGTGTGTATGCCTGATAATTTAATTTTAAAAAATCAATTTGTATTCTATTCTAGAGAAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATATTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGGGTAAGTTTGGGCATACTAAAACCCTGTATTTAGGAAATGAGAAAACAAATTAGGACTTAAGGTGAGATTGTTAGTTTCATGACTGGTATTCACAGCTAGTAGCAATTAAAACAATCCCTCTCCTCAAAGACCCTTCATCATGAGCTCATCACAGTTAAATTTAGTAAAATGGGGGCAAGAAAGGAAGATTTCTTAAACCACCAGAATTCTCTAAATTCTGATTTCAGTAAATATGTGATTCAATATAAAATTTTAAATGTGATTAATAAAAAAATTTGAGATGATGATACTTGCAGAAATCTTCAAATGTTAAATACTAAACCAATCTTTAGTTGACCTAAATAATGAATTTGCATGAGTTTTTCTATATGCAAACAAGCTGTTACAAAACAGCATGAGTTAAAGACATTCCTAGTGTGAAAGTATTCTAAGTTCTTTGATAAGTTCTCTGTATAGGGAGAAGGAACTCATTCATTGAGTACCATCAATGTCTCAGACACTGTTGAAAACTTTACATTTATTTTCTCATTTCATATCTGTAAATTAAATAATTCTATTTTACTCTGTGTGTGTCCCTATTCTTTATAAAGTAAAAATATCAGTATCACTTGTCTCCTATACGAAACACAGATATTGGTTAGGTCATGAACACAAAATCTGGGAAGTACTTTGAACCCTTTAAATATAAGTACATTCTATTATTCTGTGAAGCCCATATTTAGAACTCAGAGGTATAAAATGTTCAATCATCTATGTCATTTAAAAATGTTTAAAACACTTTTATGCTTTCTAACATATTCCCCATGCAAATAAAAAATGTACATGTCTTATCTGTTTTTACTCTTTGGATGTCACGTTTTTAAACTTAATTTTTCTTTTCCTTTAAACTACTGTGTGGACTTTTATCAACTACTGTTTTATATTCACCTAATTGTGTAGTAAATATTTTAAGATAATAACCTGGAGAATTTGAGGAAAGTCAAATATGTGTGAATGTAACAAACTCTTTTTTCTTCCCCTGTTGCTTTAGGTACAAATTATTTGGCTCGACTTCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGCAGAGGTAAGAGTTAAAAAATCTAAGCACTCAGATTGTGAGGCTGAGTACTCAATGATAAATTAATTTCTGCCCCTTAAGAATATTAGCACAGTGTGTATTTGTAGCAAACCCACCTTTCAATATATGAGTGCTTTGCTAATTTTAAGACCTTTTCTAGTGATGTTCCTTCATTTAGCAGCTGTGAAGATAAACCAGCAAGTTTTCTGAGTCCCAATTCCCAAATTGTAGAATGAGGATTAAAAACAAACTTAGGTTTGTATTGCACTTGGTCATTTATTGTCTAACCATTACTTCTAAAGTCAAGTATGATAGGTGAAAGATTTCCGCCCCACAATTTTGTGTAAGAAAATAGTGTCAATCAGAGGGTCTGTAAGACTTGACCCCATATCCTAAAACAAGTGGCAATGGAAGGCATTTAACCAGGTCTCTTATTTCAAACCCAGCATTTTTCTAAAATCCAGTGTTGCCTACATGCTGCTTCTTAGGATTAAAATAATTAACCGAGATAATTATCTAGAGGGGTTTTAAGGTGTGATATATTCTTATCATTAGAGAGATAAGCTTATACCGTCAAGAAGAAATACTGTGTCTGTATTTGAGAATCTTCTCAAAGAAAGATATGGTGCAGAAATAATATTATAAATGGATATATATCCAGTCAAATTTATGTCAATTAGAGACACATGTCTCTTGGAAATTGAGAGGAATAAAATACATGCAACATTTTAAAATGTAGGCTTGCTTTCTTTCCATCCTTCTCTCTCTCCACACACAATGTGCCCTCCTGCAAATGACTTCTGAAGGCCCTATTGTCAAAATTATTGATAAGTTAAAGTTTTTGTATGTTACTAGGGGAAGAAAACTAGAGTAGATTTAGTGTAATTTATCAAGCATTTATCGATTGACACTCTGGTAGGCAACGTGTACGGTCAACTGACACGAAGACAAATAAAATGAAGCCGTGCCATTAAGGAGCCTGTCCCTGCCACACCCACCATGTGCCCTTCTTTTTGAGATGTCATACTACTACCTTTTTTTTCTCATTGTAGTTGTTTTTAAATTTTTCATCATTGCTACCCAGTAGCACCTTTCCCATTTTCGTTGTCCAGTAAGAGACATTGTAAATGATAGTAAATTAAAGATAGAAAACAAGGAAAAGCTGGGCCATATCTTTTGTTTGACCCAGGCAACATGTCACAAAGTTCAGACAAACAGTCTCCCATCTGAAGCCAGTATTTTCACAAGCACCTGCTGTGTCATGAATTTGACAGAAATGCAAACCCACTTTATCTTCCTGCTTGCACATCTAGGCCACAGCCTTGCTTCCCTATCTGGTGTCTTGAACTCCATGCTGAATATTCTGATGTTCATGTTTTCCTCCTTGACTCTTCTATCCTCTCTGTGACTCAGCAACCACTGACATCTGCATCCTGTAGGAAAGAGCCCCTGTTCTTAAGCAATCCCAGTGCCTTCAAATATCCCTATAAGGCCTTACTTCTTTCAGGATCATTTTGATTTTCCACATAACTTGTTTTGACCATACCAAAAAGATTGAATGGAAAGTGAATTCTTAAACAATGTACTGCTTCACCTCAAGTATGTAGCCCTAGACTATAAACACATGAGGTTGCTTCAGTGTCCATGCGTGAATATGGATACGAAGAAGGAAAGAACAGTGGACACATTCACTAATTGTCTATAGTTATACAGAAAACAGAGGTGCTGCTAGTTTACCTCTGAATAGAGCCTCACTGTCAGAGGACCTGTTTGCTTATCTCTCTGCCAATGTTTTCTTTTTCAAAATTTTAGTTGACTGATGGTATCTGCTAACCTAGAATCAATCCCTGCTATATGACTATCATGCCAGACCCTTCTCTTTATCTTAACTCCCCACATCTCATCCCTAAATCATTGTGCTTTACCTCCTCAATCTGTTTTTCAAACTTGTGTTTTGCTCTCCATCTGTATATTTCTAGCATAGT
AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTAAAGAAGTCTAAGGGTCAGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGACAGAGGCAGGTGGACCACTTGAGGTCAGGAGATTGAGAGTAGCCTGGCCAACATGATGAAACCCTGACTCTACTAAAAATACAAAAACTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTTCTTGGAAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGTCACCGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTCTAAGGATAAGAAATATCAATGGTTCAGATGATGAATTTACATATATGTGCTTGATAATTTTTTCAAAATTTTTACCTGAGCTTTATTGAGGTATAATCGACAAATATTATCTTAGGTGTACAACATGATGTTTTGATATATGTGCACATTGTGAAATGATTAACACAGTCAAGCTAATTAACATATCTACCACCTCACATAGTTACCTTCTTTGTGTGTATGCCTGATAATTTAATTTTAAAAAATCAATTTGTATTCTATTCTAGAGAAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATATTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGGGTAAGTTTGGGCATACTAAAACCCTGTATTTAGGAAATGAGAAAACAAATTAGGACTTAAGGTGAGATTGTTAGTTTCATGACTGGTATTCACAGCTAGTAGCAATTAAAACAATCCCTCTCCTCAAAGACCCTTCATCATGAGCTCATCACAGTTAAATTTAGTAAAATGGGGGCAAGAAAGGAAGATTTCTTAAACCACCAGAATTCTCTAAATTCTGATTTCAGTAAATATGTGATTCAATATAAAATTTTAAATGTGATTAATAAAAAAATTTGAGATGATGATACTTGCAGAAATCTTCAAATGTTAAATACTAAACCAATCTTTAGTTGACCTAAATAATGAATTTGCATGAGTTTTTCTATATGCAAACAAGCTGTTACAAAACAGCATGAGTTAAAGACATTCCTAGTGTGAAAGTATTCTAAGTTCTTTGATAAGTTCTCTGTATAGGGAGAAGGAACTCATTCATTGAGTACCATCAATGTCTCAGACACTGTTGAAAACTTTACATTTATTTTCTCATTTCATATCTGTAAATTAAATAATTCTATTTTACTCTGTGTGTGTCCCTATTCTTTATAAAGTAAAAATATCAGTATCACTTGTCTCCTATACGAAACACAGATATTGGTTAGGTCATGAACACAAAATCTGGGAAGTACTTTGAACCCTTTAAATATAAGTACATTCTATTATTCTGTGAAGCCCATATTTAGAACTCAGAGGTATAAAATGTTCAATCATCTATGTCATTTAAAAATGTTTAAAACACTTTTATGCTTTCTAACATATTCCCCATGCAAATAAAAAATGTACATGTCTTATCTGTTTTTACTCTTTGGATGTCACGTTTTTAAACTTAATTTTTCTTTTCCTTTAAACTACTGTGTGGACTTTTATCAACTACTGTTTTATATTCACCTAATTGTGTAGTAAATATTTTAAGATAATAACCTGGAGAATTTGAGGAAAGTCAAATATGTGTGAATGTAACAAACTCTTTTTTCTTCCCCTGTTGCTTTAGGTACAAATTATTTGGCTTGACTTCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGCAGAGGTAAGAGTTAAAAAATCTAAGCACTCAGATTGTGAGGCTGAGTACTCAATGATAAATTAATTTCTGCCCCTTAAGAATATTAGCACAGTGTGTATTTGTAGCAAACCCACCTTTCAATATATGAGTGCTTTGCTAATTTTAAGACCTTTTCTAGTGATGTTCCTTCATTTAGCAGCTGTGAAGATAAACCAGCAAGTTTTCTGAGTCCCAATTCCCAAATTGTAGAATGAGGATTAAAAACAAACTTAGGTTTGTATTGCACTTGGTCATTTATTGTCTAACCATTACTTCTAAAGTCAAGTATGATAGGTGAAAGATTTCCGCCCCACAATTTTGTGTAAGAAAATAGTGTCAATCAGAGGGTCTGTAAGACTTGACCCCATATCCTAAAACAAGTGGCAATGGAAGGCATTTAACCAGGTCTCTTATTTCAAACCCAGCATTTTTCTAAAATCCAGTGTTGCCTACATGCTGCTTCTTAGGATTAAAATAATTAACCGAGATAATTATCTAGAGGGGTTTTAAGGTGTGATATATTCTTATCATTAGAGAGATAAGCTTATACCGTCAAGAAGAAATACTGTGTCTGTATTTGAGAATCTTCTCAAAGAAAGATATGGTGCAGAAATAATATTATAAATGGATATATATCCAGTCAAATTTATGTCAATTAGAGACACATGTCTCTTGGAAATTGAGAGGAATAAAATACATGCAACATTTTAAAATGTAGGCTTGCTTTCTTTCCATCCTTCTCTCTCTCCACACACAATGTGCCCTCCTGCAAATGACTTCTGAAGGCCCTATTGTCAAAATTATTGATAAGTTAAAGTTTTTGTATGTTACTAGGGGAAGAAAACTAGAGTAGATTTAGTGTAATTTATCAAGCATTTATCGATTGACACTCTGGTAGGCAACGTGTACGGTCAACTGACACGAAGACAAATAAAATGAAGCCGTGCCATTAAGGAGCCTGTCCCTGCCACACCCACCATGTGCCCTTCTTTTTGAGATGTCATACTACTACCTTTTTTTTCTCATTGTAGTTGTTTTTAAATTTTTCATCATTGCTACCCAGTAGCACCTTTCCCATTTTCGTTGTCCAGTAAGAGACATTGTAAATGATAGTAAATTAAAGATAGAAAACAAGGAAAAGCTGGGCCATATCTTTTGTTTGACCCAGGCAACATGTCACAAAGTTCAGACAAACAGTCTCCCATCTGAAGCCAGTATTTTCACAAGCACCTGCTGTGTCATGAATTTGACAGAAATGCAAACCCACTTTATCTTCCTGCTTGCACATCTAGGCCACAGCCTTGCTTCCCTATCTGGTGTCTTGAACTCCATGCTGAATATTCTGATGTTCATGTTTTCCTCCTTGACTCTTCTATCCTCTCTGTGACTCAGCAACCACTGACATCTGCATCCTGTAGGAAAGAGCCCCTGTTCTTAAGCAATCCCAGTGCCTTCAAATATCCCTATAAGGCCTTACTTCTTTCAGGATCATTTTGATTTTCCACATAACTTGTTTTGACCATACCAAAAAGATTGAATGGAAAGTGAATTCTTAAACAATGTACTGCTTCACCTCAAGTATGTAGCCCTAGACTATAAACACATGAGGTTGCTTCAGTGTCCATGCGTGAATATGGATACGAAGAAGGAAAGAACAGTGGACACATTCACTAATTGTCTATAGTTATACAGAAAACAGAGGTGCTGCTAGTTTACCTCTGAATAGAGCCTCACTGTCAGAGGACCTGTTTGCTTATCTCTCTGCCAATGTTTTCTTTTTCAAAATTTTAGTTGACTGATGGTATCTGCTAACCTAGAATCAATCCCTGCTATATGACTATCATGCCAGACCCTTCTCTTTATCTTAACTCCCCACATCTCATCCCTAAATCATTGTGCTTTACCTCCTCAATCTGTTTTTCAAACTTGTGTTTTGCTCTCCATCTGTATATTTCTAGCATAGT
Task1_train_2543
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.
Pathogenic; Protein-losing enteropathy
CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAAGGCAGCCATGGTCTACCTACTGCTTGACACTCAGGTCTTGCCTTCATGTTTTATGCCTTATACATGCAAACTGCTGTGGTTTCCATGTACCTCTTTTTTTTCTTTTTTTTAAATTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTTGGCCCAAGTGATCCTCCCACCTCAGCCTCCCTTGTAGCTGGGACTATAGGTGCACACCACCATGCCCAGCTAATTTATGTATTTTTTGCATAGACAGGGCTTCCTCATGTTGTCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCATGCCCCGCTGCCCCTTCTTTACTTAGCTATATTTTCCTTACTAAGAGTTAGTTCCCTAGCCCATCAGAAAGATTCCCAGGCTGGCTACTTCGGGATGACCCTTGCATTTTTTATTGAAATCATTTCTGAATCTTTTTTCCCACTAGCTTTTAAGACATAGGAACTATATCTTGTTCAGCTTTGCGCTTCCAATTATAAAAAAATGCCTGGCGTGTGTTAGGCACTCAGAAAATGTTTGAACTGAACCAATGGTGTGTGTGTCTCTGCACACTCTAAGTTAGTGTAAATCAGAACAGCTTGTTGTTGCTGCTTGTTTTGATCCAAGACCAAAGAGTGATTGATAAATGTGCTAAGTATTTTCTGTGTTCTTAAGTATGTTTGGTGTAACATAATTTGGCATACACACATATTAAATTGCCTTCATTCTTAAAAAAAAAAAAAAGGACAACAACATCATGCCTTTAGATTATGTGGAACCATTGAATTTTTTCTCAGGGTAACTGCCAGGGAGTGGTCCCTTTTTACAGTATAACTAAAAAAACTTCTGCTTGTATTTATTTTGTAAGTTCAGCTGCTCAGTAAGATTGTTTTGAGTGAAGTCTCTGTGAGTCCATATGTGCTAAAAATTTTTACTCTAGAAGTCAAAATGTAATCCTGACATTTAAGATCTCTGCTGTATCCAAAATGATCTATACTTAACTCTTAAACATGCTGCTTGAATTTTCAACTCCTTGCATTTGCTAGCGTTTCCCTCTTAGAGTGAAGAGCAACGCTTTCTCCGCTGTTCTCTCTCAAAAGCATGGTACATATTAGGTTTAAACTCAAGTTCTATTTCCCTGCCCAAGTCTTCTCTGACTACACTGCTTTCATCTCTAAAATCCTGCAGCATTCACTTTTCCTAGCACCGTTTTGATATGCACACATCTTACTATAATTTTTCTTTTACATACATGTTCTGAATCTTATTATTTCTATGAATTGGTCTCAAGGTTAGCATTTGTCTTCTACACCATTTGCATTCAAAGCTCCCACATACTACCAATTACTTAATAGGCATTTATAAGCATCTCTTGTTGGTAATGCTGAATTTAGAAAAATGATATTTTGATTTCTTTAAAATATAATCTTTAACATGTTTTGATCTTATTTGTAAAAATACTTTACTAGTTTTATTTATTTAAAAGATGTTGGAATTGTTTTTTAAGAAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGTGACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATTGGAGAGCACTCTATTTATTGTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCACCTGAATGCAGAGGTAATCACTTTGGATAGTTATATTTTTGCTTTATTCTTACCCTCAGGTCTATATGTGGGTTGCAGACATTCAATGAACCCCCTAAGAAAAAAATGTAAAATGTTTACATATACATATTTGTATTTTTCTGTGGGACACAATTTTTCTACAGCTTCTCAGAAGGGTCTATGGCTTGTATACACACACACACACACATACTCACACATATTATGATGTGTATATATAAAATAGGCCTCATATTTTTGGCAAATTTGCTTACATTTGCTGTTTTATACCATGTTGCTTTCAGTAAGTTAATATAGGTACTTTGTTTATACAAAGAGATATAAAGTGGTTTATTGGAGGGAGAATCTTAGATTGAAGGCTCTAGATAGTGATCATACCTGTTGCAACAACTGGGAAACTCTTGCCATCTGTTGACTTCACTGAATTAACATTCAATTCTTTTCTGCCTCCAGAATTTCTATTATTATCCATTCTCCTTCATCCTTCTAGACGTTTTTCTTTCAATGTCTTTTTATACCCAGAAGGTACTCTCAGAATCCTTCGAACTGCTTTTTAAATATATTTTAAAAGAAATATTTAGAAGATCAGTGAAGCTGGACTAAACATTGCCTAGTATCAATAGGTGGCGTTTAAGTAGTGGTGAATACCAACATGACTCAAGCATTTGAGTATTTACTTTTATAATTATAATTGAAATTTTATTAGTATGAATTTTAAAAATTCCTTATTAAAATAGATTTTTATTATAAGTGTTATACATAGACATAATGACATAATATTAAAGCCAGGGAGATGAGTACAAAATGGGAAGTGAAAGTCTCTTCTCTATCACTAGTCCTACTCGGAGAGGTAACAATTTTTTACAAATTCTTTTGTTTTATTCTAGAATATAAATAAACATACAAATATTTTTTATTTATTATATCAATGGTGTGGGTATTCATTTATCTAACCAGTCCTCTATTGATGACAATTTAGGTTTTTTGTTCTAGTTTGATTTTTTTTATGAACTATTATTACAAATGATGCTATAATATTCTTGTACATCTGTCACTGCACATATATGCAAGTACATTTGTACAATAAATTCCTTGTAGTATAATTATTTATAACAAAGGTATGTGAATTACATTTTTCATGCCCATTAGTAGCACTGCTTTTTAAAAGACTGTACCAATTTAGTCTCCCACTGATACAACATCATTGTGGTGTTTGCACCTTTAATGATAATGATTGTTAGGGAGATTTGACAATGTAAATGGTAAAAATTTGTATTATTTGAATTCATTTAATTATGAAGTTTAGTGTGTGTGCTTTTTTAATTTGGCCATTTGATCCAGTTCATATTTATTTTTCCAAGTTTTATTAAATGATCAGTTATTTAGAGCTTAAAAAACCATATGGAAGTACCCAAGTAGGTCATGGCAGGCTGATGCTTCCATTAAAACGACTATAAAATCTCAATAGATTACCAAAAAATTATATTTTTTAAGGCATAAGATACAGCTGTGGAAGCAACAAGGTCTGAATGAACTAAAATTCCTGGGGGCAGGTGGTGAAGGCAACCCATCCTGATGTAAGGCAGTTTTCCCTAGGGACCTTTGCTGATTCTGAACCTGGACTAAGGATTCACCTTGACCCAGACAAAAGACCACTTCTAGGAAAGAGAAACCAGCAAAGCTTTAATGGTTATGGAGGGATAGGGTAATACACTGGAAATTGAGGCCCTCAAATGCAGAACCAATTTTTCCTAAAGGCCATTTGCAAATTTTGGGGCTGCATGTGAGGCTGGGAAGGTTGACCCAGAGCTTCTAAAGTACAAAATGAAATCTCTCAGAACCTGATGGTATTTGGATAGCATATACCCACCAGAGGAACAGGCTTTTATCTAGCATACCACAGGTCTCCCCTTTAGCACATCTGTGCTCATTTTGAAACTGTATAGGGAAGGACATTAGGTGGCTGGGAGAACTCTGAAGGACAGACCT
CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAAGGCAGCCATGGTCTACCTACTGCTTGACACTCAGGTCTTGCCTTCATGTTTTATGCCTTATACATGCAAACTGCTGTGGTTTCCATGTACCTCTTTTTTTTCTTTTTTTTAAATTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTTGGCCCAAGTGATCCTCCCACCTCAGCCTCCCTTGTAGCTGGGACTATAGGTGCACACCACCATGCCCAGCTAATTTATGTATTTTTTGCATAGACAGGGCTTCCTCATGTTGTCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCATGCCCCGCTGCCCCTTCTTTACTTAGCTATATTTTCCTTACTAAGAGTTAGTTCCCTAGCCCATCAGAAAGATTCCCAGGCTGGCTACTTCGGGATGACCCTTGCATTTTTTATTGAAATCATTTCTGAATCTTTTTTCCCACTAGCTTTTAAGACATAGGAACTATATCTTGTTCAGCTTTGCGCTTCCAATTATAAAAAAATGCCTGGCGTGTGTTAGGCACTCAGAAAATGTTTGAACTGAACCAATGGTGTGTGTGTCTCTGCACACTCTAAGTTAGTGTAAATCAGAACAGCTTGTTGTTGCTGCTTGTTTTGATCCAAGACCAAAGAGTGATTGATAAATGTGCTAAGTATTTTCTGTGTTCTTAAGTATGTTTGGTGTAACATAATTTGGCATACACACATATTAAATTGCCTTCATTCTTAAAAAAAAAAAAAAGGACAACAACATCATGCCTTTAGATTATGTGGAACCATTGAATTTTTTCTCAGGGTAACTGCCAGGGAGTGGTCCCTTTTTACAGTATAACTAAAAAAACTTCTGCTTGTATTTATTTTGTAAGTTCAGCTGCTCAGTAAGATTGTTTTGAGTGAAGTCTCTGTGAGTCCATATGTGCTAAAAATTTTTACTCTAGAAGTCAAAATGTAATCCTGACATTTAAGATCTCTGCTGTATCCAAAATGATCTATACTTAACTCTTAAACATGCTGCTTGAATTTTCAACTCCTTGCATTTGCTAGCGTTTCCCTCTTAGAGTGAAGAGCAACGCTTTCTCCGCTGTTCTCTCTCAAAAGCATGGTACATATTAGGTTTAAACTCAAGTTCTATTTCCCTGCCCAAGTCTTCTCTGACTACACTGCTTTCATCTCTAAAATCCTGCAGCATTCACTTTTCCTAGCACCGTTTTGATATGCACACATCTTACTATAATTTTTCTTTTACATACATGTTCTGAATCTTATTATTTCTATGAATTGGTCTCAAGGTTAGCATTTGTCTTCTACACCATTTGCATTCAAAGCTCCCACATACTACCAATTACTTAATAGGCATTTATAAGCATCTCTTGTTGGTAATGCTGAATTTAGAAAAATGATATTTTGATTTCTTTAAAATATAATCTTTAACATGTTTTGATCTTATTTGTAAAAATACTTTACTAGTTTTATTTATTTAAAAGATGTTGGAATTGTTTTTTAAGAAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGTGACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATTGGAGAGCACTCTATTTATTCTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCACCTGAATGCAGAGGTAATCACTTTGGATAGTTATATTTTTGCTTTATTCTTACCCTCAGGTCTATATGTGGGTTGCAGACATTCAATGAACCCCCTAAGAAAAAAATGTAAAATGTTTACATATACATATTTGTATTTTTCTGTGGGACACAATTTTTCTACAGCTTCTCAGAAGGGTCTATGGCTTGTATACACACACACACACACATACTCACACATATTATGATGTGTATATATAAAATAGGCCTCATATTTTTGGCAAATTTGCTTACATTTGCTGTTTTATACCATGTTGCTTTCAGTAAGTTAATATAGGTACTTTGTTTATACAAAGAGATATAAAGTGGTTTATTGGAGGGAGAATCTTAGATTGAAGGCTCTAGATAGTGATCATACCTGTTGCAACAACTGGGAAACTCTTGCCATCTGTTGACTTCACTGAATTAACATTCAATTCTTTTCTGCCTCCAGAATTTCTATTATTATCCATTCTCCTTCATCCTTCTAGACGTTTTTCTTTCAATGTCTTTTTATACCCAGAAGGTACTCTCAGAATCCTTCGAACTGCTTTTTAAATATATTTTAAAAGAAATATTTAGAAGATCAGTGAAGCTGGACTAAACATTGCCTAGTATCAATAGGTGGCGTTTAAGTAGTGGTGAATACCAACATGACTCAAGCATTTGAGTATTTACTTTTATAATTATAATTGAAATTTTATTAGTATGAATTTTAAAAATTCCTTATTAAAATAGATTTTTATTATAAGTGTTATACATAGACATAATGACATAATATTAAAGCCAGGGAGATGAGTACAAAATGGGAAGTGAAAGTCTCTTCTCTATCACTAGTCCTACTCGGAGAGGTAACAATTTTTTACAAATTCTTTTGTTTTATTCTAGAATATAAATAAACATACAAATATTTTTTATTTATTATATCAATGGTGTGGGTATTCATTTATCTAACCAGTCCTCTATTGATGACAATTTAGGTTTTTTGTTCTAGTTTGATTTTTTTTATGAACTATTATTACAAATGATGCTATAATATTCTTGTACATCTGTCACTGCACATATATGCAAGTACATTTGTACAATAAATTCCTTGTAGTATAATTATTTATAACAAAGGTATGTGAATTACATTTTTCATGCCCATTAGTAGCACTGCTTTTTAAAAGACTGTACCAATTTAGTCTCCCACTGATACAACATCATTGTGGTGTTTGCACCTTTAATGATAATGATTGTTAGGGAGATTTGACAATGTAAATGGTAAAAATTTGTATTATTTGAATTCATTTAATTATGAAGTTTAGTGTGTGTGCTTTTTTAATTTGGCCATTTGATCCAGTTCATATTTATTTTTCCAAGTTTTATTAAATGATCAGTTATTTAGAGCTTAAAAAACCATATGGAAGTACCCAAGTAGGTCATGGCAGGCTGATGCTTCCATTAAAACGACTATAAAATCTCAATAGATTACCAAAAAATTATATTTTTTAAGGCATAAGATACAGCTGTGGAAGCAACAAGGTCTGAATGAACTAAAATTCCTGGGGGCAGGTGGTGAAGGCAACCCATCCTGATGTAAGGCAGTTTTCCCTAGGGACCTTTGCTGATTCTGAACCTGGACTAAGGATTCACCTTGACCCAGACAAAAGACCACTTCTAGGAAAGAGAAACCAGCAAAGCTTTAATGGTTATGGAGGGATAGGGTAATACACTGGAAATTGAGGCCCTCAAATGCAGAACCAATTTTTCCTAAAGGCCATTTGCAAATTTTGGGGCTGCATGTGAGGCTGGGAAGGTTGACCCAGAGCTTCTAAAGTACAAAATGAAATCTCTCAGAACCTGATGGTATTTGGATAGCATATACCCACCAGAGGAACAGGCTTTTATCTAGCATACCACAGGTCTCCCCTTTAGCACATCTGTGCTCATTTTGAAACTGTATAGGGAAGGACATTAGGTGGCTGGGAGAACTCTGAAGGACAGACCT
Task1_train_2544
An alteration has been detected in LAMB3 (laminin subunit beta 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Junctional epidermolysis bullosa, non-Herlitz type
CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACAT
CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTGTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACAT
Task1_train_2545
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?
Pathogenic; Junctional epidermolysis bullosa
CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACAC
CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCGGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACAC
Task1_train_2546
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?
Pathogenic; Cortisone reductase deficiency 2
CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATCTTCTACAAAAATGAGAGTAATACCCAAATTCACAACTCAGCAGCTAATTGGGCTCTATGAAGAGACTGATAAGTGGGAGGCAAAAAAAAAAAAAAAAAAAACTGGAGATGATGACTACATAGAAGTGAGGGAAAATCCCTGGAATTTCTATGAACACATGTGTTTTGATTCCTTGTTAAATGTACTTTCAATTGAGCAAAATTGAAAGAGTCCAGAAATGTCTGGAACTCCAGCATTTTAGCTGAACCATGACTTTTCTGGCTTCATCCTATGATCTCTTTCCATGGAGGTTTTTAGAAATGACAGTAGGGAGGCTGTCAGCCCAAACCTCCCACTTCAGAGCATGTTTATGAAAGACCTGGCCTGTTCCCACAGTGATTTACGGAGTTTGTGACAAACTGATCTGGGCTCATAACCTTTAAGTTACAAATTGCGATAAGCATGCCTATATCCAGAGAGGGAGAAGGAATTTTGCTGCCAACTTGGGTATGGTCCTCACTTCCTTTTGGGGTTCCCCAGAGATGCTCCAAGGAAAGAAAGTGATTGTCACAGGGGCCAGCAAAGGGATCGGAAGAGAGATGGCTTATCATCTGGCGAAGATGGGAGCCCATGTGGTGGTGACAGCGAGGTCAAAAGAAACTCTACAGAAGGTGAGGGTTCTATGCTCGCAGATATGTGTACCGTCACATGCTCAGATGTGTTCTTATATATGCTCACATATACACAGAAGCTAGCATATCGCAGATCTATATACAGAGGCACATGCACACACACAGACACTTAATTTTGCACTCTCATATATAGATTCAAACACCAAAAAACCCACAGGAATATAAAAGTATGCATTTAAGCATTCATTCATGTGTGTGTGTGTAATATATTCTGCAACAGAGTCCTTGAGTTATATATGCTCACAGACATGCCTAGTCACACACATTTACACATGGAACTACAGATACATACGGATGTTTTCAAAAACTGAAATCCCAGTACCTGCTTATGAATACATATCCTCATACCCATGCAGACTCCCAGACACATGCCCTCTCATGGACTCACAAACCCAAGGATGTACAAACATTCACAAACCTAGAGCTACCCACATAGTAACCAGCATCTACACTCATAATGCCCTCAGAAATGCCTATTCACAGAAGCCATGAGCATAAATCATGAACTTAAACCCCAGCACTGGGATGATTTATCCATTTGAACCCCACCAAGTTCCAGAAAATATTTCAGACAGAGGACGATGATCATGAGGGTTATATTAGGCAACACACACACAAACATACTTACCATTTCTTACCTAAACAGGGCTGTGAGCAATCTCTCATTTAAGCCCCCCGTTACTTCAGAGACTACCCCCCAAAAATCTGCAGCTAAGACTGATGCCATTTCTGCTGTATCACTGCAGGTGGTATCCCACTGCCTGGAGCTTGGAGCAGCCTCAGCACACTACATTGCTGGCACCATGGAAGACATGACCTTCGCAGAGCAATTTGTTGCCCAAGCAGGAAAGCTCATGGGTGAGGCTGTTTCTCTTACCTCCTCCTCTGAACTTTGCCCTTGGGGTCACCAAGAGCTTTTGGGAGGAGAATGGGAAAGGTATCAACCCCAGATGATTTCTTAATATAGCCATCTCTTGCAGGAGGACTAGACATGCTCATTCTCAACCACATCACCAACACTTCTTTGAATCTTTTTCATGATGATATTCACCATGTGCGCAAAAGCATGGAAGTCAACTTCCTCAGTTACGTGGTCCTGACTGTAGCTGCCTTGCCCATGCTGAAGCAGAGCAATGGAAGCATTGTTGTCGTCTCCTCTCTGGCTGGTAAGTGGGACAGGGACATATGTGGAAGGTAGAAGAAAAAAAAAAATGCCAGGGATGATGCCAGGCTCTGAAGTAGACATAAATTTTTATCAGTTTCCATGCAGAGAAGTAATGAGGGATTGGTCAAGGTAAGTGGGCTACAAAATTCTTTTAAGTAACAGAGAAAAAGCAGTAGCTCTGAGTGCTCATTGGAAGACTGAATTGTTTTCTACAAAGTAAGGTCAAAGGGACTTGAGGGGCTGCTGGAGGTACAGCCTGTCCTGGTCCTAAGGGAGAGACCTAGTTACAATATTAACTTGAAGTTGAAATGTTCATAGTAATATTAAACAAAAGCTGATTAACAGCTTACTCATATGCATGAATGGGCAGATGTACTGATAAGAGACTTGTAGGGGGGTGATTTGTGGACTCAATGAGAGGCACGCATCCTGAGTAAAGGAGACACTGTTACAAACTAGTGACACCATAAAAAATGAAGGATTGGTCAAGGTAGATGGGCTACAAAATTCTTTTAAGTAGCAGAGAAAAAGCAGTAGTTCAGAGTGCCTATTGGAAGCCTGAATTGTTTTCTACAAAGGAAGGTTGAAGGGACTTGAGAGGCTGCTGGAGGTACAGCTTGTCCTGGTCCTAAGTGAGAGACCTAGTCACAATGGATAAAAAGGACTTTGCTTCCTCCATGACCAAAAGGTTGGTGAAGTTATGTAAATGTGAAGGTACAACTGAGAAGTTAACTGTTTTAACAACACACAGGTGTCTGATAAGTGGGCTAAGCTAAAGCTAAATAAAATGAACAACAAGAAAAAAAAAAAAGATGAACAGACCTGCCTATAGTGGGTGTATTCTCTAAAATTTGAACATGTTAACATGAAAAGATCAATTTAAACAACCAGCTGGGTAGGGAGGAAATGTGTCCAGAGAAATGGTCATGAAAAGATATCTGTGGGATCAAGAGAGGTCCCTGGTGTTCTGGATGGTGGTAGCATCAGAAGCCATCACCAGTAAAAAACCAGTGAGTTCCCAGCTTGGGACATTTCTAGGCCCATTTTTATCATAGATCCAGGAGACAAGTTCCACACATCTTTGTTGATTAGTCAGTTAGAAGGATGTGGCTGGAAAGTGCAAACACCAGGATCAAAATCCGCCATCTAAATGTTGTTCCTGGCAAAATAAAAACAAATAACCTAGAGGACTCTGTAAACTGTTAAGCACTTCACAAACATTCTTATTGAAACTAATAGCACCATCTGTATCGTAAAGAGTTCTCCTTTCTGGCCCAGGGACGGCCTGCATAGTGATTGGATAAAGGGGCAGTGTGTCTGTGCTACCCGCCAAACAGTGTGATTGATATGCATCCCGGTGCTTCCCAGACAACACACACTCCCCACCCCTCCCCAGACACAGACTCTCTCTGGGCTGGAAGAAAGGGAGAGCTTCCAGATGCATACTGAGTGGGAGGGTGCTGGGCACATCCCCAATCCATCCCAGGGCATTGGACAAAATCCTCACATCAGTCATGATGTAGGTGGCTTTAATGATTTCAGCTGATTAAATAATACATTCACTCTAGGCAAAGGATGTATTTCACCTTTGACGAATGTAACTTTCTAGAATGTACCCATGATCTAAATGTGCTCAGAAGGACTAAGAATTACTGTTGAGCCCAAGGACGTGATGAAATTCTGATAATCTCTGTTTCCCCATATCTCCTACACTTATTGAATGACACTTGGTAATTTCCATGAACTCTGGGAGGTAGGAAATCTAGCTGGATGAGTATCTTTGGTGTTTATTGCTTGTGTAGCCAAAAGATTCCAGCTTTTTTGCCTTGAAACCTGTCTATGAACTTGCAAAGTACAGACACATTGCTGTCTTGCCGCAACTGAAGAATATTCTCTGCTTTATGATGTATTCTTTTAATCAGTCAGTAAACATGTTCATT
CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATCTTCTACAAAAATGAGAGTAATACCCAAATTCACAACTCAGCAGCTAATTGGGCTCTATGAAGAGACTGATAAGTGGGAGGCAAAAAAAAAAAAAAAAAAAACTGGAGATGATGACTACATAGAAGTGAGGGAAAATCCCTGGAATTTCTATGAACACATGTGTTTTGATTCCTTGTTAAATGTACTTTCAATTGAGCAAAATTGAAAGAGTCCAGAAATGTCTGGAACTCCAGCATTTTAGCTGAACCATGACTTTTCTGGCTTCATCCTATGATCTCTTTCCATGGAGGTTTTTAGAAATGACAGTAGGGAGGCTGTCAGCCCAAACCTCCCACTTCAGAGCATGTTTATGAAAGACCTGGCCTGTTCCCACAGTGATTTACGGAGTTTGTGACAAACTGATCTGGGCTCATAACCTTTAAGTTACAAATTGCGATAAGCATGCCTATATCCAGAGAGGGAGAAGGAATTTTGCTGCCAACTTGGGTATGGTCCTCACTTCCTTTTGGGGTTCCCCAGAGATGCTCCAAGGAAAGAAAGTGATTGTCACAGGGGCCAGCAAAGGGATCGGAAGAGAGATGGCTTATCATCTGGCGAAGATGGGAGCCCATGTGGTGGTGACAGCGAGGTCAAAAGAAACTCTACAGAAGGTGAGGGTTCTATGCTCGCAGATATGTGTACCGTCACATGCTCAGATGTGTTCTTATATATGCTCACATATACACAGAAGCTAGCATATCGCAGATCTATATACAGAGGCACATGCACACACACAGACACTTAATTTTGCACTCTCATATATAGATTCAAACACCAAAAAACCCACAGGAATATAAAAGTATGCATTTAAGCATTCATTCATGTGTGTGTGTGTAATATATTCTGCAACAGAGTCCTTGAGTTATATATGCTCACAGACATGCCTAGTCACACACATTTACACATGGAACTACAGATACATACGGATGTTTTCAAAAACTGAAATCCCAGTACCTGCTTATGAATACATATCCTCATACCCATGCAGACTCCCAGACACATGCCCTCTCATGGACTCACAAACCCAAGGATGTACAAACATTCACAAACCTAGAGCTACCCACATAGTAACCAGCATCTACACTCATAATGCCCTCAGAAATGCCTATTCACAGAAGCCATGAGCATAAATCATGAACTTAAACCCCAGCACTGGGATGATTTATCCATTTGAACCCCACCAAGTTCCAGAAAATATTTCAGACAGAGGACGATGATCATGAGGGTTATATTAGGCAACACACACACAAACATACTTACCATTTCTTACCTAAACAGGGCTGTGAGCAATCTCTCATTTAAGCCCCCCGTTACTTCAGAGACTACCCCCCAAAAATCTGCAGCTAAGACTGATGCCATTTCTGCTGTATCACTGCAGGTGGTATCCCACTGCCTGGAGCTTGGAGCAGCCTCAGCACACTACATTGCTGGCACCATGGAAGACATGACCTTCGCAGAGCAATTTGTTGCCCAAGCAGGAAAGCTCATGGGTGAGGCTGTTTCTCTTACCTCCTCCTCTGAACTTTGCCCTTGGGGTCACCAAGAGCTTTTGGGAGGAGAATGGGAAAGGTATCAACCCCAGATGATTTCTTAATATAGCCATCTCTTGCAGGAGGACTAGACATGCTCATTCTCAACCACATCACCAACACTTCTTTGAATCTTTTTCATGATGATATTCACCATGTGTGCAAAAGCATGGAAGTCAACTTCCTCAGTTACGTGGTCCTGACTGTAGCTGCCTTGCCCATGCTGAAGCAGAGCAATGGAAGCATTGTTGTCGTCTCCTCTCTGGCTGGTAAGTGGGACAGGGACATATGTGGAAGGTAGAAGAAAAAAAAAAATGCCAGGGATGATGCCAGGCTCTGAAGTAGACATAAATTTTTATCAGTTTCCATGCAGAGAAGTAATGAGGGATTGGTCAAGGTAAGTGGGCTACAAAATTCTTTTAAGTAACAGAGAAAAAGCAGTAGCTCTGAGTGCTCATTGGAAGACTGAATTGTTTTCTACAAAGTAAGGTCAAAGGGACTTGAGGGGCTGCTGGAGGTACAGCCTGTCCTGGTCCTAAGGGAGAGACCTAGTTACAATATTAACTTGAAGTTGAAATGTTCATAGTAATATTAAACAAAAGCTGATTAACAGCTTACTCATATGCATGAATGGGCAGATGTACTGATAAGAGACTTGTAGGGGGGTGATTTGTGGACTCAATGAGAGGCACGCATCCTGAGTAAAGGAGACACTGTTACAAACTAGTGACACCATAAAAAATGAAGGATTGGTCAAGGTAGATGGGCTACAAAATTCTTTTAAGTAGCAGAGAAAAAGCAGTAGTTCAGAGTGCCTATTGGAAGCCTGAATTGTTTTCTACAAAGGAAGGTTGAAGGGACTTGAGAGGCTGCTGGAGGTACAGCTTGTCCTGGTCCTAAGTGAGAGACCTAGTCACAATGGATAAAAAGGACTTTGCTTCCTCCATGACCAAAAGGTTGGTGAAGTTATGTAAATGTGAAGGTACAACTGAGAAGTTAACTGTTTTAACAACACACAGGTGTCTGATAAGTGGGCTAAGCTAAAGCTAAATAAAATGAACAACAAGAAAAAAAAAAAAGATGAACAGACCTGCCTATAGTGGGTGTATTCTCTAAAATTTGAACATGTTAACATGAAAAGATCAATTTAAACAACCAGCTGGGTAGGGAGGAAATGTGTCCAGAGAAATGGTCATGAAAAGATATCTGTGGGATCAAGAGAGGTCCCTGGTGTTCTGGATGGTGGTAGCATCAGAAGCCATCACCAGTAAAAAACCAGTGAGTTCCCAGCTTGGGACATTTCTAGGCCCATTTTTATCATAGATCCAGGAGACAAGTTCCACACATCTTTGTTGATTAGTCAGTTAGAAGGATGTGGCTGGAAAGTGCAAACACCAGGATCAAAATCCGCCATCTAAATGTTGTTCCTGGCAAAATAAAAACAAATAACCTAGAGGACTCTGTAAACTGTTAAGCACTTCACAAACATTCTTATTGAAACTAATAGCACCATCTGTATCGTAAAGAGTTCTCCTTTCTGGCCCAGGGACGGCCTGCATAGTGATTGGATAAAGGGGCAGTGTGTCTGTGCTACCCGCCAAACAGTGTGATTGATATGCATCCCGGTGCTTCCCAGACAACACACACTCCCCACCCCTCCCCAGACACAGACTCTCTCTGGGCTGGAAGAAAGGGAGAGCTTCCAGATGCATACTGAGTGGGAGGGTGCTGGGCACATCCCCAATCCATCCCAGGGCATTGGACAAAATCCTCACATCAGTCATGATGTAGGTGGCTTTAATGATTTCAGCTGATTAAATAATACATTCACTCTAGGCAAAGGATGTATTTCACCTTTGACGAATGTAACTTTCTAGAATGTACCCATGATCTAAATGTGCTCAGAAGGACTAAGAATTACTGTTGAGCCCAAGGACGTGATGAAATTCTGATAATCTCTGTTTCCCCATATCTCCTACACTTATTGAATGACACTTGGTAATTTCCATGAACTCTGGGAGGTAGGAAATCTAGCTGGATGAGTATCTTTGGTGTTTATTGCTTGTGTAGCCAAAAGATTCCAGCTTTTTTGCCTTGAAACCTGTCTATGAACTTGCAAAGTACAGACACATTGCTGTCTTGCCGCAACTGAAGAATATTCTCTGCTTTATGATGTATTCTTTTAATCAGTCAGTAAACATGTTCATT
Task1_train_2547
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?
Pathogenic; Cortisone reductase deficiency 2
CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTTCTTCATTGGTTTGACATACAACATATTATATTTGAAACATATAGAAATTCCAATTCCGATAACTGCAAGAGTGGCACCCGAAAGACCATCCTTCCCCAGATTACAACTATAAGCTTTTGACAAAATATCGACGACAACCATTGAAAGCACTGGAGATTAACCAAGAGCAGATAGAAAATGGAGGGTTATTGACACTTGGAAGAAGGAAATGACAGTAGGCGAGTTTCTCAATTGTATAGCTTTAGGCCTAAGGGCAACCCCAATCAGTGCCATATCTGGGATAGAAACCTGCCATCTTGCCAACATGAATAGCTAGAAGGAAGAGGTTGGGGTTACCGTAATAGCTGGAATGCAAAGGGGTTATGCTGGAAAGGAGAGTCACAGTGGAGAAACACTGAATCCTATACATAAGCTCTGTCCAAATCTCTAGTTGTTCTCTGAACAATGCATGGGCAATGCAGAAACCAAGCAGCCAAGTTAAGATTCAAATAATTGAACAGAGATTGCAGCTGATACTTATTACAAGAGACAGAGTTTCACCCAAGTTAACTGGCCACTTAAAAAAAAAAATCAACACTCTTTGGAGGAATGTGACAGAATCCAGGTACCCTGCAATGTATCATTCACGATATCCAGGATACAATACAAAATTAACACCCATACAAGAATAGTAAATATGACCCATACTTAGGAGGAAAGGAAATCAATAAAGATCAATCTTAAAATTACCCAAATTCTGGAATTAGCAGACAATGGATTTTAAAGTAGTTGCTATAACAATGCTCGGTAAAGACTATAGGGTCTCAGGTCACTTCTACTCTCCCCTCCTAAAAAGGGTATTAATAATAGTTTATCCTATTAGGCATATGTCCACATATCCTCCAAACAACTTGAGTGAGAATTAACCAGTCTGGTGAACATTTTTTTTAAAAAGCGGCTTTGGGTAGAAAAGCAAAGACAGGATTCTGTTTTTTGTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGCAGTGCGGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCCAAATTCAAGCGATTCACCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCATGTGCCCAGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGTCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCACACCTGGCCAGGACAGGCAGTTTTTTAATACCTTTGTAAGGAAAGTAAAACATACCCTTTCCATTGCCAACAGGTCACCAAGTTGGCAGAGATAACTAGTCAAACTCTTGGATCCCCAGCACTTGGTTCAGAGATGCAAGAGTTAGCAGCTGTGGAATTACATGGCTCTTTTGTAGCCCAGCTTGTTTATCACCCTTACTAAAAGCTTAAACAGTCCCTCTTCAATGAAGGCTGTCCTGCAGCCCAATCCCACCCTATGCCTTCGATACCTTAATGTTTTCAAAATTCAACACAGCAGTATAACTTCCATGGGGAATATAGAGAAACTAAGACTCAAAGGGGTAAAAGGACACCATAGGAGTTACAAAGCCTACTACAGCTCTGTAAGAAGGTGAAATGGGCAGCCTTATTAACCCATTTCTTTAATCTGTCATTTAGGGAAAGTGGCTTATCCAATGGTTGCTGCCTATTCTGCAAGCAAGTTTGCTTTGGATGGGTTCTTCTCCTCCATCAGAAAGGAATATTCAGTGTCCAGGGTCAATGTATCAATCACTCTCTGTGTTCTTGGCCTCATAGACACAGGTAAGGTCAATACTTTGTGTTTTTTTTTAATTATTATACTTTAAGTTCTAGGGTACATGTGCAGAACATGCAGGTTTGTTACATATGTATGCATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCACTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCTTCCCCCCACCCAACAGGCCCAGTGTGTGATGTCCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGATGTTTGGTTTTTTAATACTCTGAATAATGACCTGCAGATGAACTGTCTGCCTTACCATTGTGGATAAACAAGGGTGCTGAACTCCCTGACCTCATGTGTAATGCACTAAAAACAAACCAGTGCAGAAAGCACTAGCTCTCTCATTTAAAGGCATTTCTGTCACTAGTGGAGGCTCTGGCTACTCTTTGACTCTCCTTTCCATTTTGATTACCAAGGTGGCTGAGTCTCACCACATTCATCACTTAACCCTTTGCTGAACACCTTATGTCCTCATGGACACTCAATGGCCATTACGTTTCTATATGAGACTTATCAAAATACAAGTTTGTGTTTCTTAAAAGCAGCACCAGTAATAAGACACACTGGTATCATGAACTCTTTGATGTGATGTTCTGAGAAGAACACAACATCATTTTGGTGGTGTTCTTGCCAAAATACATGACCCCACTCCAATCATAAGAGAACAATGAACAAAACCAAATCAAGGAACATTTTATAAAACATTTGGTCAGTATTCTTCAAAAGTGTCAAGGCCATCAGAGACAAGGAAAGGCTGAAGAACTGTCACAGATTGGAAGAAAAATGGGAAGAAATTACTACTAAGTGGAATCCTGGATAAGATCCAGGAACATAAAAAGAACATTAGTGAAAAAATAAGGTCTGTAGTTTAGTTAATATATTGTATCAATTCTATTATTATACCTGTCCTAAATCATTGCACAATGGTTATATATGGTGTTGCAACCAGGGGGAGCAGGTGTGGAATATAAGGGGGTACGGCCTACAATTTTTACAACTTTTCTGTTAAGTCCAAATACAAGTTTATCTAAAACATGTGGCAGATATTAAAAGAAAATGCTCTTTGAAGAGTAATTGAGCAACAGTTAGAGAAATAGAGAGAGAGACCGAGACCCAGGGGGAAACAAGAAAGGAATGGAGAGAGAGAGAGAAGTTGTGCAAGATGGACATGAAAACTTGGAAGGGGAGAGAAGTGAAAGTGGTGACAAGGGAGCAAAAGCCTGTATTCTTGTGTATCTCTTCCTTTTACAAGACAGTAAGTCATTATCATACAGCACTCTGGTTTTTCCCACTGGCACTTCCCATTAGCTACTGAGTCATTATGAGACTTCTATCCTCATTCTGCTCCCCCATATTACTTCTCCGCCTCCAACCAAAATACCCAAGAGAGAAGCATGATTCAGATCTCCCAAGTAATCACCTCTAACTGCTCCCACCAATCTCCATCCAGGAAGGCAAGGCCCCTATTAACACTAAGGCCTCTCTTTGCCCAACAGACTCTAACATACCCAGTCTCTCCATGTATTCCCTATAGTGCCTGTGAGGCTTGCAGAGCAAACACTGCCAAAAGCCCCTGACAGCTAAGTGGTTGATGTCTCCAGGCCTTCCATCATGTAGACTGTCCTAGTCAGATAACCCTACTCTTCCCTTGTCATTCTATAGAAACAGCCATGAAGGCAGTTTCTGGGATAGTCCATATGCAAGCAGCTCCAAAGGAGGAATGTGCCCTGGAGATCATCAAAGGGGGAGCTCTGCGCCAAGAAGAAGTGTATTATGACAGCTCACTCTGGACCACTCTTCTGATCAGAAATCCATGCAGGAAGATCCTGGAATTTCTCTACTCAACGAGCTATAATATGGACAGATTCATAAACAAGTAGGAACT
CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTTCTTCATTGGTTTGACATACAACATATTATATTTGAAACATATAGAAATTCCAATTCCGATAACTGCAAGAGTGGCACCCGAAAGACCATCCTTCCCCAGATTACAACTATAAGCTTTTGACAAAATATCGACGACAACCATTGAAAGCACTGGAGATTAACCAAGAGCAGATAGAAAATGGAGGGTTATTGACACTTGGAAGAAGGAAATGACAGTAGGCGAGTTTCTCAATTGTATAGCTTTAGGCCTAAGGGCAACCCCAATCAGTGCCATATCTGGGATAGAAACCTGCCATCTTGCCAACATGAATAGCTAGAAGGAAGAGGTTGGGGTTACCGTAATAGCTGGAATGCAAAGGGGTTATGCTGGAAAGGAGAGTCACAGTGGAGAAACACTGAATCCTATACATAAGCTCTGTCCAAATCTCTAGTTGTTCTCTGAACAATGCATGGGCAATGCAGAAACCAAGCAGCCAAGTTAAGATTCAAATAATTGAACAGAGATTGCAGCTGATACTTATTACAAGAGACAGAGTTTCACCCAAGTTAACTGGCCACTTAAAAAAAAAAATCAACACTCTTTGGAGGAATGTGACAGAATCCAGGTACCCTGCAATGTATCATTCACGATATCCAGGATACAATACAAAATTAACACCCATACAAGAATAGTAAATATGACCCATACTTAGGAGGAAAGGAAATCAATAAAGATCAATCTTAAAATTACCCAAATTCTGGAATTAGCAGACAATGGATTTTAAAGTAGTTGCTATAACAATGCTCGGTAAAGACTATAGGGTCTCAGGTCACTTCTACTCTCCCCTCCTAAAAAGGGTATTAATAATAGTTTATCCTATTAGGCATATGTCCACATATCCTCCAAACAACTTGAGTGAGAATTAACCAGTCTGGTGAACATTTTTTTTAAAAAGCGGCTTTGGGTAGAAAAGCAAAGACAGGATTCTGTTTTTTGTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGCAGTGCGGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCCAAATTCAAGCGATTCACCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCATGTGCCCAGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGTCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCACACCTGGCCAGGACAGGCAGTTTTTTAATACCTTTGTAAGGAAAGTAAAACATACCCTTTCCATTGCCAACAGGTCACCAAGTTGGCAGAGATAACTAGTCAAACTCTTGGATCCCCAGCACTTGGTTCAGAGATGCAAGAGTTAGCAGCTGTGGAATTACATGGCTCTTTTGTAGCCCAGCTTGTTTATCACCCTTACTAAAAGCTTAAACAGTCCCTCTTCAATGAAGGCTGTCCTGCAGCCCAATCCCACCCTATGCCTTCGATACCTTAATGTTTTCAAAATTCAACACAGCAGTATAACTTCCATGGGGAATATAGAGAAACTAAGACTCAAAGGGGTAAAAGGACACCATAGGAGTTACAAAGCCTACTACAGCTCTGTAAGAAGGTGAAATGGGCAGCCTTATTAACCCATTTCTTTAATCTGTCATTTAGGGAAAGTGGCTTATCCAATGGTTGCTGCCTATTCTGCAAGCAATTTTGCTTTGGATGGGTTCTTCTCCTCCATCAGAAAGGAATATTCAGTGTCCAGGGTCAATGTATCAATCACTCTCTGTGTTCTTGGCCTCATAGACACAGGTAAGGTCAATACTTTGTGTTTTTTTTTAATTATTATACTTTAAGTTCTAGGGTACATGTGCAGAACATGCAGGTTTGTTACATATGTATGCATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCACTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCTTCCCCCCACCCAACAGGCCCAGTGTGTGATGTCCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGATGTTTGGTTTTTTAATACTCTGAATAATGACCTGCAGATGAACTGTCTGCCTTACCATTGTGGATAAACAAGGGTGCTGAACTCCCTGACCTCATGTGTAATGCACTAAAAACAAACCAGTGCAGAAAGCACTAGCTCTCTCATTTAAAGGCATTTCTGTCACTAGTGGAGGCTCTGGCTACTCTTTGACTCTCCTTTCCATTTTGATTACCAAGGTGGCTGAGTCTCACCACATTCATCACTTAACCCTTTGCTGAACACCTTATGTCCTCATGGACACTCAATGGCCATTACGTTTCTATATGAGACTTATCAAAATACAAGTTTGTGTTTCTTAAAAGCAGCACCAGTAATAAGACACACTGGTATCATGAACTCTTTGATGTGATGTTCTGAGAAGAACACAACATCATTTTGGTGGTGTTCTTGCCAAAATACATGACCCCACTCCAATCATAAGAGAACAATGAACAAAACCAAATCAAGGAACATTTTATAAAACATTTGGTCAGTATTCTTCAAAAGTGTCAAGGCCATCAGAGACAAGGAAAGGCTGAAGAACTGTCACAGATTGGAAGAAAAATGGGAAGAAATTACTACTAAGTGGAATCCTGGATAAGATCCAGGAACATAAAAAGAACATTAGTGAAAAAATAAGGTCTGTAGTTTAGTTAATATATTGTATCAATTCTATTATTATACCTGTCCTAAATCATTGCACAATGGTTATATATGGTGTTGCAACCAGGGGGAGCAGGTGTGGAATATAAGGGGGTACGGCCTACAATTTTTACAACTTTTCTGTTAAGTCCAAATACAAGTTTATCTAAAACATGTGGCAGATATTAAAAGAAAATGCTCTTTGAAGAGTAATTGAGCAACAGTTAGAGAAATAGAGAGAGAGACCGAGACCCAGGGGGAAACAAGAAAGGAATGGAGAGAGAGAGAGAAGTTGTGCAAGATGGACATGAAAACTTGGAAGGGGAGAGAAGTGAAAGTGGTGACAAGGGAGCAAAAGCCTGTATTCTTGTGTATCTCTTCCTTTTACAAGACAGTAAGTCATTATCATACAGCACTCTGGTTTTTCCCACTGGCACTTCCCATTAGCTACTGAGTCATTATGAGACTTCTATCCTCATTCTGCTCCCCCATATTACTTCTCCGCCTCCAACCAAAATACCCAAGAGAGAAGCATGATTCAGATCTCCCAAGTAATCACCTCTAACTGCTCCCACCAATCTCCATCCAGGAAGGCAAGGCCCCTATTAACACTAAGGCCTCTCTTTGCCCAACAGACTCTAACATACCCAGTCTCTCCATGTATTCCCTATAGTGCCTGTGAGGCTTGCAGAGCAAACACTGCCAAAAGCCCCTGACAGCTAAGTGGTTGATGTCTCCAGGCCTTCCATCATGTAGACTGTCCTAGTCAGATAACCCTACTCTTCCCTTGTCATTCTATAGAAACAGCCATGAAGGCAGTTTCTGGGATAGTCCATATGCAAGCAGCTCCAAAGGAGGAATGTGCCCTGGAGATCATCAAAGGGGGAGCTCTGCGCCAAGAAGAAGTGTATTATGACAGCTCACTCTGGACCACTCTTCTGATCAGAAATCCATGCAGGAAGATCCTGGAATTTCTCTACTCAACGAGCTATAATATGGACAGATTCATAAACAAGTAGGAACT
Task1_train_2548
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?
Pathogenic; Popliteal pterygium syndrome
ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGG
ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACGGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGG
Task1_train_2549
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.
Pathogenic; Popliteal pterygium syndrome
GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCA
GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTAAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCA
Task1_train_2550
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.
Pathogenic; Orofacial cleft 6, susceptibility to
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2551
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.
Pathogenic; Autosomal dominant popliteal pterygium syndrome
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2552
Here’s a variant in IRF6 (interferon regulatory factor 6) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Van der Woude syndrome 1
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2553
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?
Pathogenic; Popliteal pterygium syndrome
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2554
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?
Pathogenic; Orofacial cleft 6, susceptibility to
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2555
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?
Pathogenic; Van der Woude syndrome
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTTGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCC
Task1_train_2556
This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Van der Woude syndrome 1
TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAG
TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCTGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAG
Task1_train_2557
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?
Pathogenic; Van der Woude syndrome 1
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
Task1_train_2558
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?
Pathogenic; Orofacial cleft 6, susceptibility to
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
Task1_train_2559
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?
Pathogenic; Popliteal pterygium syndrome
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
Task1_train_2560
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?
Pathogenic; Van der Woude syndrome
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCAAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGC
Task1_train_2561
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.
Pathogenic; Van der Woude syndrome 1
CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTG
CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCGACACAGACAGATAGGCATCACTATTCAAGAGGACTGGGGCTTGCAACCACAGATTAGCATCTTATTTGCCATTTAGGTCCCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAAAAAAATTAGCCAAGCATCATAGTGCACGACTGTTGTCCCAACTACTCAGGAGGCTGGGGCAGGACGATTGCTTGAGCCCAGGAGCTTAAAGCTGCAGTAAGTGGTGACTTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAGAAGAGAAAGCTGAAAGGGTTAGAGACTCAGCAGATGTTTCTAGATAAGACCAGTTTGTGACAGATACAGCTGCATTGTTCTATACCACTCTTTACCTTCACTGTTCACACTCAGATACCTCCACTAGTAAGGGAGACAAGCAGGTTCGTGCTAGGTGAGCCTTTCCAGAAGAGTACTGCCCAGCCCTTCTTCATCCCAGCCTTAACACACTCAACAACCCATTTCTTCCAACTGCAAAAAATCTAAATGATACTGTCCCTTTTGTAGTCAGAGAAGTACATCTTAGATCCCCAGCTCAGTCTAGCTCAGAGAAGAAAACAAGAAAAATAGAGCTCTTTCCTCTTAAAGCTAACACCTGAGTCACATACTGTCACCTACCCCCTCTCCCTGCCGCCCCCCCAACACACACACACTGGTATTTGAGTGGTAATAAGGTAAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGAAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTG
Task1_train_2562
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.
Pathogenic; Orofacial cleft 6, susceptibility to
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
Task1_train_2563
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?
Pathogenic; Van der Woude syndrome
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
Task1_train_2564
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.
Pathogenic; Popliteal pterygium syndrome
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGATTCTGTTCCAGGCAGTTTAGCCTTGTACAAGTAGAAGAAGGTCATTGAGTCCGTTCTAAAGCTGGATGCAATTTCAGGCACTACTCCAATCTCTTCACTTTATAAGCAATAAATCTGAAGCCCAGAGGTTAAAGGACTTGTTCAAGGTCACATTGGAAGCAAAGCTGCAGCTAGAACTTTGGTGTCCAAACTCCCAGGCCAAATCTCCTTCTACTATGCTATATCATACTACCATTAGGAGATTTGAAAAAGAAAAGCAAAGTCTGAAGGGTGATTTTTCCATAAATTAAATCAGCTTTAAATCTAGGCATATTTGGAGAATCACAAACTTCTAACACTGTTAGAGAAAAGAGAGATTTAAAAGCTGGTTAAATCTAAACAATAAAAAAATCCATATGTACAATATTATAAAAAAGAGAAGGAAGAAGATGGCATTCACAATTACTGGGGAGGCAGGGCAGGGGGCAGTTGCATGCTGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGACCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCC
Task1_train_2565
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.
Pathogenic; Orofacial cleft 6, susceptibility to
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
Task1_train_2566
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?
Pathogenic; Van der Woude syndrome
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
Task1_train_2567
This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Popliteal pterygium syndrome
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGGATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATC
Task1_train_2568
This variant affects gene IRF6 (interferon regulatory factor 6) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Van der Woude syndrome 1
TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTATCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
Task1_train_2569
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?
Pathogenic; Popliteal pterygium syndrome
TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTATCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAAT
Task1_train_2570
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.
Pathogenic; Van der Woude syndrome
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
Task1_train_2571
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?
Pathogenic; Orofacial cleft 6, susceptibility to
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
Task1_train_2572
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.
Pathogenic; Popliteal pterygium syndrome
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
Task1_train_2573
This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; IRF6-related condition
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTCGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAGCATTTTGGGAGGCTGAGACAGGAGGATCACTTAAGCCCACGAGTTCCAGACCAGCATGAGCAACATAGTGAGACCTCATCTCTGCTAAAAATAAAATTAGGCCAGGCATGGTAGCCTGTGCCTGTTGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTTGAGGCCACAGTGGGCTGAGATGGTGCCACTGCACTGCAGCCTGGGCGACACAGCAAGACCATGTCTCCAAAAAAAAAAAAAAGTGCAATTTACATTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTGTGTGAAGAAAACCTGGAAAGGGTCATATCCTGTGAGGTTTCAGCAAGACTCTAAGGTTAGTAAGAGAATGAAAGATAAGATCTCCACTAAATCAATCACCCATTTTAAGGACCCTGCCTTTTCCAGCATGAGTCCTACTGCACAAACCTGAGTCTGTTACCCCATCTGATGAGACTGAAACCTACATGGGCTGATGGATGCTTGATGAGGGCTCAACCCAGACCTGGGGGCTTAAGCATTGGCAAAAAGATGAAGAGTTGTTGACACAGCCTTATCTTCTCACCTGAACCAAGATGAGTTTCCTTTCCAATGGTTTCCCATCTGGCCATTCTTCCCCAAAGCATAAGTAGATCTCAAACGGTGGCTGCTTCTCTATCTGTCCTTTCTGGTGGGCAATGAGATCTGCAGAAAGTGGAAGAGCAAGTTTGGTATACTGGGTCATTCCACATCCACTCAACAAATACCATCTTTTATGCTGTCCATTACAATAGCCACTAGCCACATGTGCTCACTAGTTTTAAATTAATTAAACAGTTCCTGGGTCACATTAGTCATATTTACATGCTCAATAGCCACATATGGCTTGTGACAACCATACTGAATAGCACAAATATATTGAACAGTACAAATTACAGAGGGTTCTCTTGGACATCATTGATCATGACTTGCAGTTCAAACCACATTGTAAAAAATTGACATCACGGTGCTTTCCCTAAAACTGCCTGCTTGAATTCACCACTCAGATAATTCCCAAAAGAATATGTGCTATTCTGAACATAACAAACAGGATTACCTTCCAAAGTTAAAGACACGCTGGTAACATTTGAGGTGTAATGACAGGGCTGTCTCCCTCTTCTGCCATTGAAGGAGCCACAACCAACTTAAAAATAGCTTCCAAGTACATAGCTTTGGAGTGAAACTCCCTTCTTTGTTGCCTAGGTCACCTCCAATTTTTAGAACCAAAGTTCTGTTCTCCCTTGACCTCCTCCAGACTAAATTTTTTAAGATCTTTGCCATGCCAGGAAAGCAGGAAGGTGAAAGACAGGGATAGTGGAAGGAATGTACTTCCAGAGAGTGATTCCCACGATCAACTTTCTGAGAAATGACTTACCGCTAAGGAATGTTTCCAGACAAAATAGCTTGACCTTCTTTTGTCTCTCAATCAGGTTGGGAGCAACAAGTGATGGGGCACATGGCCCAGACCAGTACACCTTGCACTGGCACAGCCTGATGGCATAAATGGCATGACCGCTGACCTCCAGGATCAGTCCTCTGTCCATGACGTCCAGCAGCTTGCTAGTGAACAGCTTCTGCTTCTCATTGGTAATATGCTCAGGACCTGGGAATTTGACCTGCTCCAGGCTGACGGGACCAAAGAGCTCCTCCTGGTCAGGCATGGGACCCAGGTCCCCATAGAAGAGTTGGCAGCCCTGAGGGTTGCTCACGGTCATGGTCTGCCCGTACTCCTTCCCACGGTACTGAAACTTGATGTCCAGGTCAGTCACTGCAAGGTTAGAGATGACAGTGAGAGTCCTGCTTCACTGCTCTGCCTGTTCATCCCTGTGACTCATGCAAGTCCATTAAGATCAAGCCACCTTTCAACCAGCATTCAGGAAGGCCACTGCCATAGTTATCCTTCCTGCAATAAAGGGAGACATCAACATATCCCTGGAATATTCACTCAAAAGGCTGCCTGAAAGCAAACAGTTCAAAGTCCATCTCAACTATTTCTGTTCAATCACCACACCCCAAAGGCTACAATTGCATCAAGTAAAGTGGTCCTGGTGTCCCCACGCTATACTGACTGAGTCTTCACACCAATGGTCATTGGAAGGAGCTAAAAACTAAGGTATCTTGTTTGTGTATCATTTTTAGCTTATTGTTTAAAGAAACTTGAGGAAGAAGAAGCAATACCAAACAATTTTTCTGAAAATGACATGTGAACACACACACTGGGGATCTGCTCTAATAATATACCATAAAAGGACACAGTTCACATCAAAGTTAATTTTTACTCAGCAAATCTCCATTGAACCCAATAGCCCCTATCAAAGCTACTTAGCCTCTTGGACAAAATTTTATTAATAGCACTCACATGCCTACCATATGTAGTGTGAAAGGGAGACCCAAGCAATGACATTGATTCGTCATTGAGATAAATTCGTACCAAATTCAGAAAGAGGTTTTTTTCTGTAGGTCCTAAAGCCTCTCAAAATCCAAGAGCCTCCTCTACCAAATCCATGGCCATTAACCTCCCTGTTCCACAACTGGCCTTGTCACTAAATCCCCCTGCGTGACTGATAAATCTGGGACTCCTACCCACCTAAGACCTGAATAACCTGGAGCTGGAGCTGTAACCAATCAGAGCATCCCTATGGGCAAGTAAGTGTCAGCCAATGTTTTTGTTGTTGTTGTTGTTTTAGATCATGTCTCATTCTGTCACCCAGACTGGAGTGCAATGGCATGATCAGGGCTCACTGCAGCCTCAACCTTCTGCATTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAACAGGGACCATGGGCATGCACTGCCATGCCCAGCTAATTCTTTAAAAATTTTTTTGTAGAGAGTCTCACTATGTTGCCAAGGCTATTCTCAAACTCCTGGCCTCAAGCACTCCTCCCACCTCAGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCACACCCAGCTGGGCCAGTGTTTCTTTACTTCTTCCCTGGTGACTCATGGGCTAGCCAGGAAACAGAAACAGAGGATGCCTCTGAGACAGGTAGTTTTTCAATACATGGCAAAGAAATGAAGTTAGAAAGCAGGACAGGAAAGAGTCTATAATAGAAGCAGAAGACCGAGCAAGAAAGATAAAGTCTCACTTACTTGGGAGAGAGCTGATCCACAGTTCTGGAGAGCTATAGAAGGGCTGTATAGGTGCCTGGGGTACTTCCATCTCCAGGGGTTCAGTTTTGGGCCACACTGCCTCCGGGCTGCAGTTGCCCACACTGCAATTGCCCACACTGGCTGGCGCCATGGGAGAACCTAAAACAAAAGCATATGGTGAGCAGACAGGGGTACCACACGTGCACATCACTTGCTGATGCTCTGAGAACTCACAAGGTCAGTAGACAAGAACCAAACACTGAACCCTGACCCAGTGTGATCTTCCAGCCCATCAGTGATTCCCATAACTAACGCAATAAGAAATAAGGTTCCCCTGCTCCTGCTTCCTAGTCATATTATTTCTCCCACAAATTCATAGTTTTAAAAACCTTTGTTTGCTGAAGATTAACATAGACATGTGAGTTTTCTCTGGAGGTTAAATTACAAGGAGTAAGACATTCCATACTGTAAAATTTGGCCCCAGCAATTAAATAGAAGCTGGTTGTCTTCCATAAAACGAACTCAGCTAAATTAGCTGATTAGCTTCGAGTAAGTGTTAATGCATAGAAATACCTTTAACAACAA
Task1_train_2574
A sequence alteration has been identified in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Orofacial cleft 6, susceptibility to
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
Task1_train_2575
An alteration has been detected in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Popliteal pterygium syndrome
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
Task1_train_2576
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?
Pathogenic; Van der Woude syndrome
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTTTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAAC
Task1_train_2577
This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Orofacial cleft 6, susceptibility to
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
Task1_train_2578
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?
Pathogenic; Van der Woude syndrome
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
Task1_train_2579
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?
Pathogenic; Popliteal pterygium syndrome
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTACTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAG
Task1_train_2580
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?
Pathogenic; Popliteal pterygium syndrome
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGAGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
Task1_train_2581
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.
Pathogenic; Orofacial cleft 6, susceptibility to
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
Task1_train_2582
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.
Pathogenic; Popliteal pterygium syndrome
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
Task1_train_2583
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?
Pathogenic; Van der Woude syndrome
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGTGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCA
Task1_train_2584
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?
Pathogenic; Autosomal dominant popliteal pterygium syndrome
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
Task1_train_2585
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?
Pathogenic; Orofacial cleft 6, susceptibility to
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
Task1_train_2586
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?
Pathogenic; Popliteal pterygium syndrome
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
Task1_train_2587
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?
Pathogenic; Van der Woude syndrome
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCACAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCAC
Task1_train_2588
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.
Pathogenic; Van der Woude syndrome
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
Task1_train_2589
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.
Pathogenic; Orofacial cleft 6, susceptibility to
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
Task1_train_2590
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?
Pathogenic; Popliteal pterygium syndrome
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGGGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGATTCAAAAGCCCATAAAAGAAAAGTCTCTTGCAGATAAATCCTATCAGAGCCAAGTACTATCAGCTACAGACATCACAAGTTTCCCGTGATACAGCCTAGGCAGAGTAGTCCTTGTGAAGGAAGTGACACAGAATTTATACCAAGGGAAATATTAGAAGAGTTTGCCCGTAACTCGAAAAAATGACACTGTACTTGGCCTGAAGGAAATTGGCAAAATGTGTAACTGATGATATATTTGTATGTTGGGTTAAGAATGAATTCAAATTTTTTATTTCTTTGAATTAGCACATAAGCTTCCAAAGATGTTCTATTGCCTGGAACCCACCCAACTCTACTGGGATAACTGAGCCAACAGGGAGTTCCTCACCTCTGACTCCCACTTGCTAACAGTCCAGCAGTCTGGCTGCAGGGACTGATCCTGCTTTCAGGGCAGTGGTGGCCAATGTATTGACAGTCCCAAGGTCAAAACTCCTTACATCCTCCATATGTCTCTGTACCACCCATCATCCCCACTCACCATTGATGTTCAGGAAGGGGAAGGTGTCCTGGATGGGAACATGGTGCTGCGACTGATCCAGCTCATCTTCCTCATCTTCTTCATCCACATCATTATCCTTCTCATCCCAGGGAGCAGACCCTGTGGATCCTACCCAAGATACACAAGCTCGCAGGTGAGCCATTCAGGTTGCACTGCCACCCCTGCAGCTGACCCACCATTCAAGCTAGGGACTGCTAGCCCAGAGGCTCCTCAGGTTCAGTACACACCCTCAATGTCCTAGCTAAAAAGAGTGAGAATCAAGGGAATGAACACTTCTCTCATGGAAGGACCTCCCTAGATTCACTGGAGCACATATCTAAATTATCTGGCTGTTAGTACTTGTTAAGTATGCAGTTAATTGGAGGGATCAGGAGATATTCTCTTAGTCAAAGTATCCTATGAATTAAACGATCAGTCACCCAATATGTATAAAGAACTTATTACCCTGATCTTGTCACTATTATATGTACCAAAACATCACTATATACCCAACGAATATGTACAATTATTATTTGTCAATTAAAAAATTTTTTTAACAGATCATGTTAATTTTTTTTTACAGATCATGTTAATTGATTCTCACACTAGCTTTTGAAGTAAATAGGAAAGCTGAGATCCCATATTTTAGAGTTGAAGAAACTGAGGCTTACAAGAGGTAAAATGACTTGATTCAAGTCCCACAAGTAGTAAAGTGATAAGGGCCAGGTTTAGAACGCAAACCTTTTAAGCTTTAATCCCTTCTCCTTCAAAACTACCTGGCCTCTTGAATCCCAAAAGAGGCTACTTTTACAGTAGAACTGTATACCCCTCCACTTTCTAATGCTTTAAGTAACCAGGTTAAAAAACATTCCCCTAAGTAAGCAAGATTTTGCTGAGTCTGCATCTTTTGTTTTCTGGGTCCTTCCCAGAGAAAGGCTTTCTTGCTTTATCCATCTTAAACTGTGTAAATCAGGCTGTTTTCAAGTTGACTATCTCTTAAGAGTGCAGCCCAGAATCTGGCATGCTGCCCACCTTCTCCCCAGCACCTGGGGCCTCACCTGGGTTAATGATCGAGCCCTGGGGCTGAGGGATGTCACACACTTGATATATCTTCACTGGGTTCATGGGCACCTCCTTGGTGCCATCATACATCAGGTTGAATTCTCTGCTCTTATTGAGAGCACAGCGCAGCTGGGCCTTCCATTTAGCTGAGTCAGGGTCATCCACCCCTTCCTGGTACTTCCCTGTCTCTACAGCCCAGGCCTGAGAACAAGAAACCACAGTGAGTCCTATCATTGCCCAGAGCCACTGCAAAGCATGTGCTTACCCTTTCTCATAGACACAAACACACACACACACACACACACACACACACACACACACACACAACTTTTGCATGACTGCCCCATCATCCCAACCCCGATTTACAGAGACTGCAGCAGGAAACACTGCCCTTAGGACCAGGCAAGACAGGTGCCTAAGGGAAATAAAGCCATGTGCAAACACAATATATTAAAAGGAGGAACCTTATCTCAAGCACTGGTACCGGCACTCATCAAGACGACAATGCTCTAATGAAGGGCTGAAGATAAAGCCTGCTGAAAATATGCACCAAAGTGCAGATGGTAACTCTGGATAGCAGAATTTCAAGTAACTTTTTTTCTTTGCTTATTCATTTTTGACATGAGTTGCTTATACGACAATAGGTAAGACAAAGAGGGATGGCAGAGGATATGAAGAGTTTGGCCTCCTGTGTTCCCTCCTGTCAGTCTTCAATCTAATACATAAATAAAGAATTGTAACCTGGGTGCAGGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGCGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGATTGTAGTGAGCCAAGATCGTGCCATTGCACCCGAGCCTGGGCAACAAGAGTAAAACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGTAGAAACCAAGTGCCTTTAGGAGGGAAGGAAACACACTGGGGGTTCAGCTTGTCCCTCTGGCTGAGGGCCTCAAGTCCTAAAAAATCCACACCCCTTACCTTACCCTATCCCCTCAAACTTCTGCTTCATTAGAAACATCATGCTGTCAACCACACCAGTGGCTGGCAGCACGGACTAAAACCACTTCGACTCCTTCTCTCTGGTTTTCAAATATGGAAACTCACAGCACTTTCCCCAGACAAGAAGAAGTTAGCCTCCCTAATGAGGAAAGGAAAAATCTAAGCCGCTCAAGTCATAGACCAAGGTGCTCAGGAGCAAAGCAGGGAGTAGACACCTGGCCCTACTTTCAGCTCTAACAGGCATTCTTGTTTCTGCAATGGGATAGCCACTCTCCCCCATTGCTAACAAGTTCTCTGATCTCTTTGTGCAGGAGTACAACTTGTTCTGATGCCGAAAAAGTAGGTACCATTAGCAGACAGCTCAAGACAGGAAGCACACACCAACGTTTTCAAGCCAACAGTGTATATGATTTGTCCAAACCCAATCCCTTCCTCTGATTCTGATCATAGGCTTCTTCCTCAAGCTGAAATTGAATTTTTCTGCCCCATCCTTTGAGAGCTCTGATCTCCTTCAGTCGCCCCCTGAAGAACCTCACAGGCATGAGGAAGTTTCCTCAAAAGCTAATCTAAATCCTCCTCCTCCAATTCAGATCACTTCCTCTTACCATCTTTTCAGATTTGGGTCCCTCCATTTGATTGTGGTATGGAATGAAGAAGTTTGACAACATTCTGCTGCCCCAGGTGGCTGAGCAGACACTAGGGGGCCTAACTGCTGCTCCATTCTATCCAACCCCCTACGGGAGATTTCAACTTCACTGGTCGCTGGTATCTGGAAGGCCTATCTCCAATTACCTGGCAGTACCTGGCTGCTGCCTCCCCAAATTTTCCCTTCCATTTGTTTGATCCTCTGTGTGCCCACGCTAACTCTGGCCCCACCCAGCTGACTCGGGCTATGAAGACTTTGGCAGAGCTCTGCACATTTCTGTGGTTCCCTAAATCCCTGCTCCTCCATGGAGAGCAGCCAGACCAACCCAGAACCAGAGCCCCAGCCTTCCTGCTCACCACACAGCCATCCCCAGGACCCAC
Task1_train_2591
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?
Pathogenic; Van der Woude syndrome 1
TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCA
TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAGTCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCA
Task1_train_2592
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.
Pathogenic; Popliteal pterygium syndrome
CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGGGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
Task1_train_2593
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.
Pathogenic; Van der Woude syndrome 1
CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGGGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCC
Task1_train_2594
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?
Pathogenic; Van der Woude syndrome 1
TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCA
TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGACCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCA
Task1_train_2595
Consider this mutation in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Popliteal pterygium syndrome
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
Task1_train_2596
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?
Pathogenic; Orofacial cleft 6, susceptibility to
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
Task1_train_2597
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?
Pathogenic; Van der Woude syndrome
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCTTGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGA
Task1_train_2598
Here is a variant affecting SYT14 (synaptotagmin 14) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Autosomal recessive spinocerebellar ataxia 11
AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTTTTAATTACAAATTCAATTTCTTTAGTAAGACTGTTTCTGAACAGTCTTCCAGCATCTCTTCTGGTTGGTAATAACTTTCTAGAAAGATGTCTATTTCAGAGGTCTCCAACCCCCCGGCCACAGACCAGTACCAGTCCATGGCCTGTTAGGAATGGGCGCCGCACAGCAGGAGGTGAGCAGCAGTGGGCTAGCGAACATTACAGCCTGAGCTCGGCCTCCTGTCAGATCAGTGGCAGCATTAGATTACCCTCTACATCCTGTCCATGGAAAAATTGTCTTCCAGGAAACTGGTCGCTGGTGCCAAAAAGGTTGGAGATCGCTGGTATATTTCATTCAAATTTCAAATTTACTAGAAGAAACAACTTTCTTCTAGTATCCTATCCTATTATTTTTTCATGGTCTCTAGAATATGTAGTGATGTCTCCTTTTTCATTCCTGATCATTGTTATTCGTCCCTTTTTTCTTAATTGGACTCTCCAGAAATTTATTCATTTTATTAGTCTTTCAAATCACTTATTTTTATTATCATTTAGTTACCTATGGGTTACTAAAAGTATACCTTTAATTTCCAAAAAATATAGATATTTTATTCTCCTCTAGAACAGAGTTTGGTTTTCTAATCAATCAAAAAACATTATGAATAATTTTCATCATTTGAAATTATTATTTGCTTTAATTTAAAAATTCTGTGTACTTGGGAAAATTATATTTTGTAGTTATTAGGTATAATATTCTGCATATGACCATTAGGTCAATTTTGCTTATTGTGATATTCAAGTCTTCTACATCCTTATGGTACTTATTTGTCCACCCATTTGGTCAGTTACTGAATTTGGTCAGTTAATGAGGGAAGTGTGCTTATGTACCCAGTGATTATGGATGTCTGTGTTTCTCTTTCTAGTTCTGGCCATTTTTGCTTTCTGTATTTTGAGTCCATGTTATTAAATGCATCCAAATTTGGGATTATTTTAGTTTTTAGTAATTTCAATGTTTTATCATCATTTTGTATACTTCTTCAATCTCTAGTGGTGATTATTGCCTTAAAGCCAACCCTGACTGATACTAATGTAACTACATCAATTTGTTTGATTATTTTTTACATGATTAATTTTTCCCATGTTTTTCAACTTTTCTATATCTCTGTGTTTTAGATGTTGGCTTATAAATAGCAGGTAGTTTTGTTTTGTTTATTTAAAGGCACAGTTAGGACATTTGATGTATTGAGTCTAAATCTTTGTCAGTCTTTTAAGGTTGATAATCTTTAAACAATAATTTCTCATATTCAAAAAACAGTTTATTAGCATCTATAAGTTTAAGCAACATTGCTCTTATTTCCTTATAAATATGCAGGGATTTATGAAATCTTCTCATTTCCTATTACTTCTTTGGCTTTTACATAATGAAAAGAAATCCAGGGGCTAAAATATGCTAAGGACAATAATTCTAATCTGGTGTTTGGTTTGCAACTCATCTTTATTGTGATTTACCTACCTAATCCAAATAAACATGGCATAACAATATATCTCTTAATATATCTCTCTTGCAAAATACTATAAAAATGTTATTATTGATTACAGGGCTGTGACTCCCAAATGAGCGTGTCAGAAATGTCGTGTAGTGAAAGTACATCCTCATGTCAGTCTCTTGAACATGGCTCAGTTCCAGAAATTCTTATTGGCCTGCTTTATAATGCCACAACTGGAAGACTATCAGCAGAAGTGATAAAAGGCAGCCACTTCAAAAATTTGGCAGCAAACAGACCACCCAGTGAGTGAAAAATAATTTTTTTAATTCTAATGTTTTCTGCACTTTTGGGACTCTCAGTATTAGGGAGTTCAATCCTATCATTTAGTCTTAACCAATCAAAATGAAATGGTGTAATCATCAGCTAATCTGTTTCATGTTTTCTATTTCCAGTCATTTGGGAAGTAGAAAAATTTGAAATTCAAAGTATTCATAGTAAGGTGACAACTTTTAATTTTTCATAGTATCTGCAAAATAAATTATCTCTATCATAGCCATTATCTTTTAATGCCAGAAAAGGTTACAGGGCCTTTAAAAGTGAGTAATGTTCACAAATATGAACAGGAATGTATATAGCTATTGTTGTTAACTGAAGAGTAATGTGTTTTGTATCTGCATGCAGTACTATGAACTATTTTATTTACTTCTATATTTTCCTTCTTTCTCCCTTAACGATTTAAGAAGAAACTATTACTTCACTTTTTTTTTTCTTCTTTAAAATTATAAGCCAGTACTGCCAGCAGAGACTTTTCTTAGATGGAATGGGCTTTGCTCTTACCAGGACAAACAGAATAAGGAACAGTTTGCTGTTTACCCTGGATGCTAAGAAGGGAAAGCTAGATAGCATACCTCTGCCCTGACTATATGCGTGTTATGTCTGTTACTCTTCTCTCTCTGGATCTCTCTCCCAGTTCAACAAGGCCAGGGTAGGTTATGGGAGGATATTGAAATTGTCACCCAATATACCTCTAAAATGTTGGTACCTAAAAGAGGTAAACTGGGAAAGTGGCAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGTTTTGTTCTTATCGCCTAGGCTGGAGTGCAATAGCATGATCTCGGCTCACTGAAACCTCCGCCTCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCACACCTAGCTATTATTTTGTATTTTTAGTAGAGGTGGGTTTTCACCATGTTGATCAAGCTGGTCGCAAGCTCCTGACCTCAGGTGATCCATCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCAGCTTCTTTATACTTACCTAAAATTAAAGCTGTTAATGCCGTAAACTAAAAATTTGAAACGAAATCTGAAATAATAATGCCACTTTAAATTTTCTTAAAGAATTCTCACAGACTTACTTAATGCCATGTTTTATTCCAAGAAGCAAGTAATTATTATAGGAGGGGGTCCAGGCGCAGTACCTCATGCCTGTAATTCCAGCACTTTAGGAGGCTGAGGCGGGAGGATCACTTGATCCCAGGATTTCAAGACCAGCCTGGGCAACAAAGTGAGACCCTGACTCTACAAAAAATTTAAAAATTAGTCAGGCATGGTGGCTTGAGACTGTAGTGCCAGCTACTCAGGAGGGTGAGGTGGAAGGATCGCTTGAGCCAGGGAGATCAAGGCTGCAGGGAGCCAAGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACAAGGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAACTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGTGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGTGGCAGAGCAAGGCTCCATCTAAAAAAATAAAAATAAAAATAAATAATAATATTTATTAATTAAAATTAAAAAATAAAGGAGGGGTAACTTTTTTATCCTTGAATTTAACTCTTTCTAGTTGTCGTAAAAATTATTTATTCAATGGAAGTAAAAAGTTACTATAATATATTGGGTTTGCCCCAAATAACATTGGAAAGCTT
AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTTTTAATTACAAATTCAATTTCTTTAGTAAGACTGTTTCTGAACAGTCTTCCAGCATCTCTTCTGGTTGGTAATAACTTTCTAGAAAGATGTCTATTTCAGAGGTCTCCAACCCCCCGGCCACAGACCAGTACCAGTCCATGGCCTGTTAGGAATGGGCGCCGCACAGCAGGAGGTGAGCAGCAGTGGGCTAGCGAACATTACAGCCTGAGCTCGGCCTCCTGTCAGATCAGTGGCAGCATTAGATTACCCTCTACATCCTGTCCATGGAAAAATTGTCTTCCAGGAAACTGGTCGCTGGTGCCAAAAAGGTTGGAGATCGCTGGTATATTTCATTCAAATTTCAAATTTACTAGAAGAAACAACTTTCTTCTAGTATCCTATCCTATTATTTTTTCATGGTCTCTAGAATATGTAGTGATGTCTCCTTTTTCATTCCTGATCATTGTTATTCGTCCCTTTTTTCTTAATTGGACTCTCCAGAAATTTATTCATTTTATTAGTCTTTCAAATCACTTATTTTTATTATCATTTAGTTACCTATGGGTTACTAAAAGTATACCTTTAATTTCCAAAAAATATAGATATTTTATTCTCCTCTAGAACAGAGTTTGGTTTTCTAATCAATCAAAAAACATTATGAATAATTTTCATCATTTGAAATTATTATTTGCTTTAATTTAAAAATTCTGTGTACTTGGGAAAATTATATTTTGTAGTTATTAGGTATAATATTCTGCATATGACCATTAGGTCAATTTTGCTTATTGTGATATTCAAGTCTTCTACATCCTTATGGTACTTATTTGTCCACCCATTTGGTCAGTTACTGAATTTGGTCAGTTAATGAGGGAAGTGTGCTTATGTACCCAGTGATTATGGATGTCTGTGTTTCTCTTTCTAGTTCTGGCCATTTTTGCTTTCTGTATTTTGAGTCCATGTTATTAAATGCATCCAAATTTGGGATTATTTTAGTTTTTAGTAATTTCAATGTTTTATCATCATTTTGTATACTTCTTCAATCTCTAGTGGTGATTATTGCCTTAAAGCCAACCCTGACTGATACTAATGTAACTACATCAATTTGTTTGATTATTTTTTACATGATTAATTTTTCCCATGTTTTTCAACTTTTCTATATCTCTGTGTTTTAGATGTTGGCTTATAAATAGCAGGTAGTTTTGTTTTGTTTATTTAAAGGCACAGTTAGGACATTTGATGTATTGAGTCTAAATCTTTGTCAGTCTTTTAAGGTTGATAATCTTTAAACAATAATTTCTCATATTCAAAAAACAGTTTATTAGCATCTATAAGTTTAAGCAACATTGCTCTTATTTCCTTATAAATATGCAGGGATTTATGAAATCTTCTCATTTCCTATTACTTCTTTGGCTTTTACATAATGAAAAGAAATCCAGGGGCTAAAATATGCTAAGGACAATAATTCTAATCTGGTGTTTGGTTTGCAACTCATCTTTATTGTGATTTACCTACCTAATCCAAATAAACATGGCATAACAATATATCTCTTAATATATCTCTCTTGCAAAATACTATAAAAATGTTATTATTGATTACAGGGCTGTGACTCCCAAATGAGCGTGTCAGAAATGTCGTGTAGTGAAAGTACATCCTCATGTCAGTCTCTTGAACATGGCTCAGTTCCAGAAATTCTTATTGGCCTGCTTTATAATGCCACAACTGGAAGACTATCAGCAGAAGTGATAAAAGACAGCCACTTCAAAAATTTGGCAGCAAACAGACCACCCAGTGAGTGAAAAATAATTTTTTTAATTCTAATGTTTTCTGCACTTTTGGGACTCTCAGTATTAGGGAGTTCAATCCTATCATTTAGTCTTAACCAATCAAAATGAAATGGTGTAATCATCAGCTAATCTGTTTCATGTTTTCTATTTCCAGTCATTTGGGAAGTAGAAAAATTTGAAATTCAAAGTATTCATAGTAAGGTGACAACTTTTAATTTTTCATAGTATCTGCAAAATAAATTATCTCTATCATAGCCATTATCTTTTAATGCCAGAAAAGGTTACAGGGCCTTTAAAAGTGAGTAATGTTCACAAATATGAACAGGAATGTATATAGCTATTGTTGTTAACTGAAGAGTAATGTGTTTTGTATCTGCATGCAGTACTATGAACTATTTTATTTACTTCTATATTTTCCTTCTTTCTCCCTTAACGATTTAAGAAGAAACTATTACTTCACTTTTTTTTTTCTTCTTTAAAATTATAAGCCAGTACTGCCAGCAGAGACTTTTCTTAGATGGAATGGGCTTTGCTCTTACCAGGACAAACAGAATAAGGAACAGTTTGCTGTTTACCCTGGATGCTAAGAAGGGAAAGCTAGATAGCATACCTCTGCCCTGACTATATGCGTGTTATGTCTGTTACTCTTCTCTCTCTGGATCTCTCTCCCAGTTCAACAAGGCCAGGGTAGGTTATGGGAGGATATTGAAATTGTCACCCAATATACCTCTAAAATGTTGGTACCTAAAAGAGGTAAACTGGGAAAGTGGCAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGTTTTGTTCTTATCGCCTAGGCTGGAGTGCAATAGCATGATCTCGGCTCACTGAAACCTCCGCCTCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCACACCTAGCTATTATTTTGTATTTTTAGTAGAGGTGGGTTTTCACCATGTTGATCAAGCTGGTCGCAAGCTCCTGACCTCAGGTGATCCATCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCAGCTTCTTTATACTTACCTAAAATTAAAGCTGTTAATGCCGTAAACTAAAAATTTGAAACGAAATCTGAAATAATAATGCCACTTTAAATTTTCTTAAAGAATTCTCACAGACTTACTTAATGCCATGTTTTATTCCAAGAAGCAAGTAATTATTATAGGAGGGGGTCCAGGCGCAGTACCTCATGCCTGTAATTCCAGCACTTTAGGAGGCTGAGGCGGGAGGATCACTTGATCCCAGGATTTCAAGACCAGCCTGGGCAACAAAGTGAGACCCTGACTCTACAAAAAATTTAAAAATTAGTCAGGCATGGTGGCTTGAGACTGTAGTGCCAGCTACTCAGGAGGGTGAGGTGGAAGGATCGCTTGAGCCAGGGAGATCAAGGCTGCAGGGAGCCAAGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACAAGGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAACTGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGTGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGTGGCAGAGCAAGGCTCCATCTAAAAAAATAAAAATAAAAATAAATAATAATATTTATTAATTAAAATTAAAAAATAAAGGAGGGGTAACTTTTTTATCCTTGAATTTAACTCTTTCTAGTTGTCGTAAAAATTATTTATTCAATGGAAGTAAAAAGTTACTATAATATATTGGGTTTGCCCCAAATAACATTGGAAAGCTT
Task1_train_2599
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.
Pathogenic; Chondrodysplasia-pseudohermaphroditism syndrome
GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGAATTCACTTCAAATTTTCCAGCATGTTTATGAATTCTAGAATCTATGTGTTTTAAGTTACTGTGCATCTCTAAACAACAGGCAGTGAGGTGAGACCACAGAACTGGGCTTTAAAAATTTTCATCTGTGTTGTCCACTGTATTGAGTATGCCCTCAGTAGCTTCTATCTGTATCTATGAATAATCAAAACATCCCTCTCTTGCCTTTGGTGTTTGGCTCTGAGCTGTCTCCTAATGCTGCCCTGTAGCTGGTTGTCTGGGATGCCACATGGGAAGGATGGGAAGACACACATGGAGGCGGTTAATGATAGATATTAACTACCAAGTATCCAGTGCTTCTTGTATGCCTAAGTACTTCACATACTTCATCATATTTAATCACCACAACAATGTTTTTTACTTTAGGAGGAAACCCAGACTCGGAAAGGTTAAGTAACTTGCTCAGGATCACACAGCTGTGTAGTTTGTGGTAGAATTTGATCCTGATCCTCTGACTCTAAAGTCCATTTTTTAAAGAAGAAAATTCCTTTTACAACAACATCAAAAATAACAAAATATTTAGGACTAACTTTAATCAAAGAAGTACAAGACTTGTACACTGAGCACTACACACATTGCTGAAAGAAATTTAAAGAAGACCTGATAAATGGAAAAACAGCCCGAGTTTATGGAGTGAAACTCAATATTGTTTTGATGGCAAAGCTACCCGAAGTGACTTATTTTACTTTTGTTTTGTTTTGTTTTTTAGACAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCCCATGCCCAGCTAGTTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTCCTGGGATTCTAGGTGTGAGCCACCATGCCCCACCTTATTTTACATTTTCTAAAGTCTGTATTCTTAACTGTTATGCTCTGCTGCCTACTAAGCAAGAGACTTGTTCCACATACTGTCTGCCATGTTTCAAAAAACAACTTAGGGTGAAATGACATGCCCACACATCATTTTCCCTTGCTCTCAGCCCATCTTTTTCTCTTTCTCTTCTACCAGTCCTGTGTCTCTTGTTGACTGGGACCTGCTTTTGCCAGCCTCAGACATGAGTAGGTGATGGAGGAATTCAGGCAGGGTGGCACCTGTAGCCCGAAACTCCAAATTCCCAGTGGGGAAAATACACTGAGTGCTGCCCTCCCCGCTTGGGTTTTTCCAGGGCTGATGCTGGAGTGGAGGGATCAGTGCAGAACGTGTCTTTGGCTCTTGGCACTAGGCTAGCTTGTTGACCCCCAACCCCCATTCTTATTTTGAGACAAATGTTCAAGCTGAAATACGATTCTTCCAACCAAGAACATTGAGTGTTCCCAAGACAAACCAAACCAACCCTCTGTCAGCTGGCATAGCAATAATATTTGTGGGAAGTTTATGAAAAATCTTATCTAAGGGACTGTTTTAGGAATCAAGGCACCATCGAATGACCTCTTTTGTTTCCACTTTAGATGCAGCAGCAGGAGCATGACTCCCTGAAGGCCAGCCTGTGTGTCCTGGCCCTGGGGCTGGGCCGCCTTCTTTGCTGGTGGTGGCTGGCCGAGCTGATGGCTCACCTGATGTACATGCATGCCATCTACAGCAGCATCCCCCTCCTGGAGACTGTCTCTTGTTGGACCTTAGGTAATTGTGGGAATCACCAACAGTGGGATGAGCCCCAATAGTCCAACAGTTAGCATCAGAATGGAGCTGGAGTGGGGGGTGAGCAGGGGTGCAGGTGCCTATAGCAAACCCTCTTTATTATTATTTTTTAACCTACTCCTCTTGTGGCCAAGATTGTGCATGTGAGAAGTGGTTGATGTAGCTGACGGAAGTGAGGGCTGTGCTTGTAGTCTGGGGACCAAGAATGGTGGCATTCTTCTCTGTAATGGGATCCTACTGACCTTAGCTGGGTCCACATCTTCACAGCGTAGCCAATATTGTGTTTAGCAGTAGAAGGCAGGAGTTGCTGGGGGCAGCTTTGAGTTCATTCTAAGAGAGAATGCTCCAAGATTGAGTTGTTCCACAGTCTTCCTTGTTCTTTGTGCATAAGGTATTAAAGAATATGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGAAGGTGAAATCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGAGAGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCCACCACACTCCAGCCTGGGTGACAAAGCATGACTCTGTCTCAAAAAAAGAATGAGTTTCAGGATCACACAGCCATAGGTTTGAGTTTCAGCTTCACCAATGACTGGTGTGTAACCTTGGCAGTTTACTTAACCTCTCGGTTCCAGCACCCTCATCTGTAAAATAGGGAGACTTAGCTTTGTGGAATAATAGGAGGATATTAGGCAGCGCTGCACATTGAGGGTGTACCTTGTACACTGTCTTGGGATAGAATAAATGGCGTGTGTGTATTTCCCTCTGTAGATCCCCTTTCCTTATCTACCCTTTCCTGTGTGTCTGCCAGGGAGGTGGCATGGAAGTCTTACTTCCTCAGCAGGGCTAGTCTCCAGTATAGGATTTGTCTGTGGAGAAACCACTGTTCTTTTATTCCTCTGGCCAAAACAGCAGAGCCCACGCCCTTTTCTGAATAAAATCTCTTCACTTCCTTGTTCTCTCTCCTTTTGAGGACTCCCGCAGTGGCTGACTTCTGCCTGTGCTCTGACCTCCAGCCTGTAGCTCCAATAACTGTGTGATCCTCCAGGCAGATCAAGCTGTTCCCTGCTGAGGGCAAGAGTACAAGCCTGACTCCTTCTTTATCTGTTTAACATTTCATAGATCTTCTTAAACAAATCTTGATTGTTCTTGGTATCACACGTACTTAATCAGAATGTTTCCAAGGACGAAACCTTTAAGATTGAAAAAATGCTAAGCTAGTTTAATGATAGTCTCTTTCTTCCAAACAAAACTTTTTATAGTTTGGAGTTGCTAATATTGTAAAGTTTTAATGATACAATTAGACAAACAGAATATGATTAAATGATAGCTTATACTAAGTCAGATCCCAGTTGTATGGGATACAAACTAAGGGACTGTTTCAGCTTGAGGGTTTTTAAACTAAAAGTAATGGAAGACACAACTCAAAATGGGGCTTAAACAATAAGGAAGTTATTCCATATAACAATGATACTTAAGATCGGCACTAGGGGTAGTAAATTATGTGACTCTGATGTCACCAACACACCTTTTGTGTGTCCACCATTCAGCTTAAGAACTAACCAGAATCGTAGAAGCCCTTAGTTTGTACTCGTAATCCCATCAGCCTCTATTACCCTCTCTGAAAAGATTACCTGAATATTGTATTTATCCTTTTCTTCTTTTTCTTTGTACTTTTACCACAGTTAAATCCTTAAAATTGCATATGTTAACACCTCGTCGTATGAATAGATTCATGCTTGTTATGTATGTTCTGTGACTTGGTTTTCTTGTTTAACATTATGT
GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGAATTCACTTCAAATTTTCCAGCATGTTTATGAATTCTAGAATCTATGTGTTTTAAGTTACTGTGCATCTCTAAACAACAGGCAGTGAGGTGAGACCACAGAACTGGGCTTTAAAAATTTTCATCTGTGTTGTCCACTGTATTGAGTATGCCCTCAGTAGCTTCTATCTGTATCTATGAATAATCAAAACATCCCTCTCTTGCCTTTGGTGTTTGGCTCTGAGCTGTCTCCTAATGCTGCCCTGTAGCTGGTTGTCTGGGATGCCACATGGGAAGGATGGGAAGACACACATGGAGGCGGTTAATGATAGATATTAACTACCAAGTATCCAGTGCTTCTTGTATGCCTAAGTACTTCACATACTTCATCATATTTAATCACCACAACAATGTTTTTTACTTTAGGAGGAAACCCAGACTCGGAAAGGTTAAGTAACTTGCTCAGGATCACACAGCTGTGTAGTTTGTGGTAGAATTTGATCCTGATCCTCTGACTCTAAAGTCCATTTTTTAAAGAAGAAAATTCCTTTTACAACAACATCAAAAATAACAAAATATTTAGGACTAACTTTAATCAAAGAAGTACAAGACTTGTACACTGAGCACTACACACATTGCTGAAAGAAATTTAAAGAAGACCTGATAAATGGAAAAACAGCCCGAGTTTATGGAGTGAAACTCAATATTGTTTTGATGGCAAAGCTACCCGAAGTGACTTATTTTACTTTTGTTTTGTTTTGTTTTTTAGACAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCCCATGCCCAGCTAGTTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTCCTGGGATTCTAGGTGTGAGCCACCATGCCCCACCTTATTTTACATTTTCTAAAGTCTGTATTCTTAACTGTTATGCTCTGCTGCCTACTAAGCAAGAGACTTGTTCCACATACTGTCTGCCATGTTTCAAAAAACAACTTAGGGTGAAATGACATGCCCACACATCATTTTCCCTTGCTCTCAGCCCATCTTTTTCTCTTTCTCTTCTACCAGTCCTGTGTCTCTTGTTGACTGGGACCTGCTTTTGCCAGCCTCAGACATGAGTAGGTGATGGAGGAATTCAGGCAGGGTGGCACCTGTAGCCCGAAACTCCAAATTCCCAGTGGGGAAAATACACTGAGTGCTGCCCTCCCCGCTTGGGTTTTTCCAGGGCTGATGCTGGAGTGGAGGGATCAGTGCAGAACGTGTCTTTGGCTCTTGGCACTAGGCTAGCTTGTTGACCCCCAACCCCCATTCTTATTTTGAGACAAATGTTCAAGCTGAAATACGATTCTTCCAACCAAGAACATTGAGTGTTCCCAAGACAAACCAAACCAACCCTCTGTCAGCTGGCATAGCAATAATATTTGTGGGAAGTTTATGAAAAATCTTATCTAAGGGACTGTTTTAGGAATCAAGGCACCATCGAATGACCTCTTTTGTTTCCACTTTAGATGCAGCAGCAGGAGCATGACTCCCTGAAGGCCAGCCTGTGTGTCCTGGCCCTGGGGCTGGGCCGCCTTCTTTGCTGGTGGTGGCCGGCCGAGCTGATGGCTCACCTGATGTACATGCATGCCATCTACAGCAGCATCCCCCTCCTGGAGACTGTCTCTTGTTGGACCTTAGGTAATTGTGGGAATCACCAACAGTGGGATGAGCCCCAATAGTCCAACAGTTAGCATCAGAATGGAGCTGGAGTGGGGGGTGAGCAGGGGTGCAGGTGCCTATAGCAAACCCTCTTTATTATTATTTTTTAACCTACTCCTCTTGTGGCCAAGATTGTGCATGTGAGAAGTGGTTGATGTAGCTGACGGAAGTGAGGGCTGTGCTTGTAGTCTGGGGACCAAGAATGGTGGCATTCTTCTCTGTAATGGGATCCTACTGACCTTAGCTGGGTCCACATCTTCACAGCGTAGCCAATATTGTGTTTAGCAGTAGAAGGCAGGAGTTGCTGGGGGCAGCTTTGAGTTCATTCTAAGAGAGAATGCTCCAAGATTGAGTTGTTCCACAGTCTTCCTTGTTCTTTGTGCATAAGGTATTAAAGAATATGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAAGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGAAGGTGAAATCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGAGAGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCCACCACACTCCAGCCTGGGTGACAAAGCATGACTCTGTCTCAAAAAAAGAATGAGTTTCAGGATCACACAGCCATAGGTTTGAGTTTCAGCTTCACCAATGACTGGTGTGTAACCTTGGCAGTTTACTTAACCTCTCGGTTCCAGCACCCTCATCTGTAAAATAGGGAGACTTAGCTTTGTGGAATAATAGGAGGATATTAGGCAGCGCTGCACATTGAGGGTGTACCTTGTACACTGTCTTGGGATAGAATAAATGGCGTGTGTGTATTTCCCTCTGTAGATCCCCTTTCCTTATCTACCCTTTCCTGTGTGTCTGCCAGGGAGGTGGCATGGAAGTCTTACTTCCTCAGCAGGGCTAGTCTCCAGTATAGGATTTGTCTGTGGAGAAACCACTGTTCTTTTATTCCTCTGGCCAAAACAGCAGAGCCCACGCCCTTTTCTGAATAAAATCTCTTCACTTCCTTGTTCTCTCTCCTTTTGAGGACTCCCGCAGTGGCTGACTTCTGCCTGTGCTCTGACCTCCAGCCTGTAGCTCCAATAACTGTGTGATCCTCCAGGCAGATCAAGCTGTTCCCTGCTGAGGGCAAGAGTACAAGCCTGACTCCTTCTTTATCTGTTTAACATTTCATAGATCTTCTTAAACAAATCTTGATTGTTCTTGGTATCACACGTACTTAATCAGAATGTTTCCAAGGACGAAACCTTTAAGATTGAAAAAATGCTAAGCTAGTTTAATGATAGTCTCTTTCTTCCAAACAAAACTTTTTATAGTTTGGAGTTGCTAATATTGTAAAGTTTTAATGATACAATTAGACAAACAGAATATGATTAAATGATAGCTTATACTAAGTCAGATCCCAGTTGTATGGGATACAAACTAAGGGACTGTTTCAGCTTGAGGGTTTTTAAACTAAAAGTAATGGAAGACACAACTCAAAATGGGGCTTAAACAATAAGGAAGTTATTCCATATAACAATGATACTTAAGATCGGCACTAGGGGTAGTAAATTATGTGACTCTGATGTCACCAACACACCTTTTGTGTGTCCACCATTCAGCTTAAGAACTAACCAGAATCGTAGAAGCCCTTAGTTTGTACTCGTAATCCCATCAGCCTCTATTACCCTCTCTGAAAAGATTACCTGAATATTGTATTTATCCTTTTCTTCTTTTTCTTTGTACTTTTACCACAGTTAAATCCTTAAAATTGCATATGTTAACACCTCGTCGTATGAATAGATTCATGCTTGTTATGTATGTTCTGTGACTTGGTTTTCTTGTTTAACATTATGT