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_25200
Here is a genetic alteration in NOG (noggin) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Symphalangism-brachydactyly syndrome
GGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGT
GGAGGATGGTGAGGAGCGGAACCCCCTCGTGGGCCCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGCCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGT
Task1_train_25201
The gene NOG (noggin) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Symphalangism-brachydactyly syndrome
CCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGC
CCGAGGGGCAGACAGACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCGGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGC
Task1_train_25202
A sequence alteration has been identified in NOG (noggin) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Proximal symphalangism 1A
ACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCC
ACAGGAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGGACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCC
Task1_train_25203
Gene NOG (noggin), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Proximal symphalangism 1A
GAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCCTCAT
GAGTGCTTCCTAAGAATTACATCACGCTGCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCTCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCCTCAT
Task1_train_25204
Here is a mutation in NOG (noggin) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Symphalangism-brachydactyly syndrome
GCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCCTCATTTCAATAGCCTGGCCCCGGAGCCGAGCC
GCGCAACGCTGCGGCTCTCGGACTCCCTGGTGCAAAGGGGGGTGGGGTAGGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTTGGGGGGAGGGGACTTAGAGCAAGAGCCCGGGAGAGAAGAAGACGCGCTCGGGGAAAACGCTCCATGCACATGGAGAAATTTCTTGCTCCGAACTGCATGCACCGAGAAACGAGCCCCCAGCACTTCCCCGCTGCTCCCCTCCCAGTGCAAAGCACCCAGCTAGTGAGAAACCCTCCAGCCCCACCTCAAGCACCGCCCCCCCTCCCCAAACACCGGCTCTGCACCCTCCAGCCCGGCTCCAGCGCCGCCGCGAGCTTTCCCCAGGACTGGCCCTGGCGGGGCGCCTAGAGCCCCAGTTGCATTGCTCCAGGAGAAAGGAGGGGGGCGGTGCATTTTGCAGGAGGAGGAGAAGGGGGGTGGGTGGTGGGGGAGAGAGAAAATTGCGCGGAGACCTGCCAAGCGCCACCGCCGCCGCCACCGCCGCTGCCGCCGCCGCCGCCGCCGCCTGTGAGCTCCGGCGGGCAGCCGGACTGTCGGCTTCCCGGGGCATCTGGGTCCGGCGGGGCACAGCCCTGGGCGCTGCCGAAGCCGCCGCCGCCGCCTCCGCGGCGAGTACAGGCGGCTTCCCCCGGAGCCTGTGCAGCTCCAGCTCCTCGGGGGTGGAGAAGTGGGGGGTGGGGTTGTTGTTTGGGGGGAAGAAGGGGGAGGGGGCAACGCCGAGAGAGTCAGTGGTTTCCATGGTGATGGAGCTGAAAGTGCAGGAAATTTAAAGGCTTGGACCCTGCGAGACAGACAAACCGGTGCCAACGTGCGCGGACGCCGCCGCCGCCGCCGCCGCTGGAGTCCGCCGGGCAGAGCCGGCCGCGGAGCCCGGAGCAGGCGGAGGGAAGTGCCCCTAGAACCAGCTCAGCCAGCGGCGCTTGCACAGAGCGGCCGGACGAAGAGCAGCGAGAGGAGGAGGGGAGAGCGGCTCGTCCACGCGCCCTGCGCCGCCGCCGGCCCGGGAAGGCAGCGAGGAGCCGGCGCCTCCCGCGCCCCGCGGTCGCCCTGGAGTAATTTCGGATGCCCAGCCGCGGCCGCCTTCCCCAGTAGACCCGGGAGAGGAGTTGCGGCCAACTTGTGTGCCTTTCTTCCGCCCCGGTGGGAGCCGGCGCTGCGCGAAGGGCTCTCCCGGCGGCTCATGCTGCCGGCCCTGCGCCTGCCCAGCCTCGGGTGAGCCGCCTCCGGAGAGACGGGGGAGCGCGGCGGCGCCGCGGGCTCGGCGTGCTCTCCTCCGGGGACGCGGGACGAAGCAGCAGCCCCGGGCGCGCGCCAGAGGCATGGAGCGCTGCCCCAGCCTAGGGGTCACCCTCTACGCCCTGGTGGTGGTCCTGGGGCTGCGGGCGACACCGGCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGGACCTCATCGAACACCCAGACCCTATCTTTGACCCCAAGGAAAAGGATCTGAACGAGACGCTGCTGCGCTCGCTGCTCGGGGGCCACTACGACCCAGGCTTCATGGCCACCTCGCCCCCCGAGGACCGGCCCGGCGGGGGCGGGGGTGCAGCTGGGGGCGCGGAGGACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGATCAAAGGGCTAGAGTTCTCCGAGGGCTTGGCCCAGGGCAAGAAGCAGCGCCTAAGCAAGAAGCTGCGGAGGAAGTTACAGATGTGGCTGTGGTCGCAGACATTCTGCCCCGTGCTGTACGCGTGGAACGACCTGGGCAGCCGCTTTTGGCCGCGCTACGTGAAGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCCGTCCAAGTCCGTGCACCTCACGGTGCTGCGGTGGCGCTGTCAGCGGCGCGGGGGCCAGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGGTAGAACTCGGGGGCCCCCTGCCCGCACCCGGACACTTGATCGATCCCCACCGACGCCCCCTGCACCGCCTCCAACCAGTTCCACCACCCTCTAGCGAGGGTTTTCAATGAACTTTTTTTTTTTTTTTTTTTTTTTTTTCTGGGCTACAGAGACCTAGCTTTCTGGTTCCTGTAATGCACTGTTTAACTGTGTAGGAATGTATATGTGTGTGTATATACGGTCCCAGTTTTAATTTACTTATTAAAAGGTCAGTATTATACGTTAAAAGTTACCGGCTTCTACTGTATTTTTAAAAAAAAGTAAGCAAAAGAAAAAAAAAAGAACAGAGAAAAGAGAGACTTATTCTGGTTGTTGCTAATAATGTTAACCTGCTATTTATATTCCAGTGCCCTTCGCATGGCGAAGCAGGGGGGAAAAGTTATTTTTTTCTTGAAGTACAAAGAGACGGGGGAACTTTTGTAGAGGACTTTTTAAAAGCTATTTTCCATTCTTCGGAAAGTGTTTTGGTTTTCCTTGGACCTCGAAGAAGCTATAGAGTTCAATGTTATTTTACAGTTATTGTAAATATAGAGAACAAATGGAATGACTAATCATTGTAAATTAAGAGTATCTGCTATTTATTCTTTATAATATCCCGTGTAGTAAATGAGAAAGAAGTGCAGAGCAGGATTAAAGAAAACCACTAAAACCGACTGCGCTCCACACTGATTTTCTGTGTTGGTGATTGATGGGGGTGGGAGGGCGTGGGAGGGGGCGGGTAGGGGATGCTGCTGTGCCTCCTACCCCGTTGGGGAAGGGGCTCATCCCCTCGGACTCCCCTCCTGTGGTATGATGGAGGTGACTTAGTTTTTTGAGGGCGTTGGGGGGGGGGGCGATATTCTCTAACCCCTCACTAAAACATCACGTGGCCTCCGCCTAGTCTCCTAGCTTTTCCCCCTATGTCACCAAAGCTCGGGCCTGTAGTGACCTCGACACCCAGCCGGCCCCCTGGAGCTGACCCCAGGCTGGGCCGAGGGGCGGGGGGAGGGTGGGCGGCCGCTTTGTCCTGCCTGACAGGCCCTTCACAATGGGGACACGTGTCTTTCACACCTACCCTGGGGGCGGAGTGCCGCTGAAACTTGACCCCCGAGGAATGGGGAGGGGGGGAGATCAGAGCGCGCCCACCCAGATCCCGCCACCCCTCCCGCCTCGTACCCCCCACCTCAATATCCAGCCCATGTTAACCCTTTGCATGCCCGGAAGCTACGGTGGTACGAACTGAGGCAATCCCTTGGAATCAACAAGGCTCACAGCCTCCGGGATCTTGCAGGTCCGAGCCCCGAAATCCCAGGCCCTCGGCCGGAGGTGCTGGGGATATCAGGGAGATTTGACACTGGCCTCCCCTCTCCCCGGGGACCTAAGGAAGACTAAGGGCCATGGTTTCGGAGGGGTCCGAATCTGGGTGAAAATCACCACCTCTGGCATCTGCTTTTGGGAAGAGAGTATGCCTGTGCTCGGGCACTTTCTCCCCTTGAGGGGTGGGGAGGAGGGAGAAATCGGAACCGGAATCTTTGCGCTTTAAGATTAGATAGGGGCAGAAGGCACGTAACCCATTAAAGGGACGTGCAAAACATCACTCCCACCCCACCCCTTAAAAAGCCAACTCCTTGGGACCGACGCCTGACTCTCGCATGCGTCCCTCCGCCTCAGTCCCCAGTGGCGCCCGTCCTCACAGCTCCACGTGGGCCAGCCTCCTGACACTGCTCAGCGCTCTCTTTATTTATCTTGGACTCCAAAGTCGCTCTCCTTTGCTCCCTCCCCACCTCCCTGCCACCTCTCCGCGCCTCCCTCCCGGCGTTCCTTCCACCCCACCCCCCACCCCCCCCAACCCCCCAAGTCCGGAGTCCCGGCGAATCTATGCTAATTATTTCAAACCTGCGCCTGGTCCCCAGCGCAGTCTCAATGCCCCCGGCCCCGCCCGCCCTGTCCCTCCAGCCCGGCGCTTTCTTCCCTCCCGACGCAGCCTCGATGGCTCCTCATTTCAATAGCCTGGCCCCGGAGCCGAGCC
Task1_train_25205
This sequence change occurs on Chromosome 17, altering MRPS23 (mitochondrial ribosomal protein S23). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Combined oxidative phosphorylation deficiency 46
ATCTCAAAAAAAAAAAAAAAGAATGTTCCTAGGCAACCATTAGGAGCACATTTTCTGTGACTATTTAAGTTTTGGAAAAAAAGAGAATAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGCTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCAGAGTTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCATCTCGAAAAAAAAAAAAATACTTAGATCAGAAAAAAACAAAACTTTTTTTTTTTTTGGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCACTCTCAGCTCACTGCAACCTCCACCTTCTAGTTTCAAGCGATTCTCCCACCTCAGCATCCAAAGTAGCTGGGACTACAGGTGCCCACCACCAAGCCCGGCTAATTTTTGGTATTTTAGTCAAGACAGGGTTTCACCATATTGCCCAAGGTGGTCTCGAACTCCTGAGCTCAGGCAATCTGCCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCGTGGGCCACCGTGCCTGGCCCAGAAAAAAAAAATTCTTAAATAATCATTATCAATACTGACAAGGATAAAGTAAGAACTCTCAGAAACTGCTAATCAGAGTGTAAACTAAGACAACTACTTTTTTTTTGGTAGAGACAAGTCCTGCTATGTTGCCCAGGGTGGTCTCAAACTCCTGGGCACAAGCTATCCTCCCTTATGCCTCCCAAAGCACTAGGATTACAGGCACAAGCCACCACATCCAGCCTGTGATTTCTTTTTATGCTTTCTTTGTGTATCTAAATTTTCTACAAGTAGCATGTGTTGCTTTTATAATAAAAGAGGAAGTATTCTTGCCACTGAGCTTAAGAAAAAGAAAAAAAAAGAGAAAAGGGATGCTAAAAAAAAATAAAGAACACATGATTTTCCTTCAAATTCCTAGTGATTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCGAGTAGCTGGGACTACAAGCACCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCTGACTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTCTTAGACTTTCAAGCATCCTTTCATCTGAGTGGCTTCAAAGAGCCGGACTACTAGATCCACAGACCACGTTCCTCCTATCTCCACTCGTGGAGAAGGCCGGCATAATGATCACCATAAGCTTGGAGTCAGAGATGTGATTCCCAGATCTGCCACCCTCCTATATATTTAGTAATTACAAGAAGTTAGCTAATTTCCTTGAGCTTCGCAGTCTCCTTGAATAAAATGGAAACAAGAATGCCTTCCTTACAAGTTAGAGTAAGGCCTTTAGAGAATGAGATAATGCTTGCAAAGAGCTTAGTACAGTGCCTGGCCCAAAGCAGATGCCCAGAAACATGCGGCTATAATTGCAATGATCTTTCGGTTGCTGGGCTCCAGATTCCACTTTTCAGAACTTCAGTTTCACTATGAGGAAGGGGTGCTGCCTCCCTAATTTGGCTAGATAAGCCTTCTCCACAGGGCAAACCCCTGACTCAATTTCATGTTTGAATTCCCAGACTGCTACCGAAACCTTCCCTTCTGAAGTTCTGTTGCCTCCTGTCCACTACAGGGCTGAGCACTCACGCTCTAATCCGATCCTCGTGGTACCAGATGTCTTGGATGGGAGCTTTGGCTTTGCCATATCGCACTCGAGGCCTTTGGAAGACGGGCTCCCTCAGCGGGGGAAAGGCGTCATATACGTCAAACCACAGGGGCTTCTCCTTCAGCACCCCGGCCCGAACCAGGTCCCGAGTCCTTAGGGAGGGAACAGAACGAAACTGGGTCACTTGCAGTAGCCTGCCAAAGCCCCTGAATCAGTCTAGCACAGTTTGGGACATTAAAGGTATTATGCGGTCTGCAACACAGAACGGGGAAGGACTGCTCCCCACCTACAGAGAAGATCTGTCCACATCCCAAACCAAACTTAACAACGCTCAGGAGAGTTAAATCCCTCTATCTTCTTTTGTGCGTCCCACCCACGTTCGGTCACGGAAAAATGCAAAGAGCGGTCTTGCATGACCTGATAAGGAAGGCCCATCAGGCTCTTCCTCCCTTCCTCTTCCTAGAGACCTCCACTCGGGGAGAGGCAGCTGCAATAATCTTTAACATGACACATAAATTCAAGGAGAGGCATCCTCAGGCACAACTATTCGGAGCCAGGAGAAAACATGAGAGGGCCTCACCCAGCTCAGCCCCCGCACCCTGCAATACGCCTCGCCCTGCTCAGGTCCGCTCCAAGGAAGAGCGTGACCGGCTGAGAACCCCAGCCTGGGGGAGGCACCCTCAGCCCACCACGGCTGGGAGCACACACCGAGAGAAGATGCTCCCTACGGTTTCCAGCCGGCTGCCTGCCATGATCTGCGCCTGGTACCGAGCGTGACTAGCTGCTACCGGAACCGGAAGCGGCTGCTCCAGGTAAAGGGCGCATAAGTTGCTGGCCGAGCCAAGGATCGCTGGGCTTTCACCGCAGCCCCTGCGGGAGAGCGGCGCAGGCAGAAGCAAGTGATAGGCCGAACGGGCGCGCTCCGAGGTTACTTGCCAGGTTCAGGCAGGAGCACTCGATAGCCGAGCCAAAAGGGCAGGAGCGAGCCAAAGCCGGACAGAAGTAATAAATGACCGAGCTGTGGGAGGGATTCATCATGATGGTTGCTTTACTCTCTCTCGCCTTGTTGAGCCAACTCCTCTGAAAAGGTGGGGCCGCGCGGAGGAGAAGTAGTGGGGCAGAGCAGGGGTGAAGCGCAGCCTACAGTCCTAGGGGAGCCAACAAAGGCCGAGATTTGAGGTCACCAGCTCTAGGCCCAGGCTGAGCCTAATGTTGTTTAGAGTCACAGACTACGCAGAAGAAAACCAAGGCCGGGGAGGGGCCGTCACTTGCCCAGCGTCGTGCTAGATCTCGGGCCTCCGCCTCTGGCTGTGTAGTGCTCCCCACTAAGCCCCTCGTCCCCGGAGTGCCACCTGCATCCACGCTAACTAGGATGCTGGCTGCAACTCGTGTTTCCCGCGGCCGGTGTCGCGGGCTACCTCCTCCTTGGAACTCGAAAAGTGAAAGTGTCCGGAACAAACAGACGCCGAGAGGGAAACGAAAAAATCTGGAGAAAGTCATCTCTCAGTGTTAAACTGTAAAAAAATATAAACTGTGTGTAGCATACCCTTTGACCCAGTAATCATATTTCGGGGAAAGAACCCCTTAGAAATTAAAGCATCAATTCATGAGGATGTTTGTGCAAGGATCATCGTTGCAGCATTGTTTGTAGTGGGAAAAAAAATCCATCAGATGAGAAATAGCTGGAAAATTATTGTTCATACTTTCTTTGGAACCCTATGCAGCTATTAAAATGAATGAGCTAGATCCACATGTATTTACCAAGGTTAAGGTACATGACTTATGTTTAAATGAAAAACGAAGTTGCAAAGAAACATGTTTAGTGGAATCTCAACGTGTTAGAAAAAAAAAAGGAAAAAGAAACACCTCTATATATGTTTGTGTTTGAGGATAGAAATTCTGCAGAAGGACACCCAAGGCTGTGAACATTGGATATCTCGGAGTGAAACTGCAGGCAGGCAAGGGAGAATTTTTTCTTCCTTTACACATGCTTCAGAGTTTGACTTGTAAAGAGATTGTATTCATATTTGAACTTTTAATCCAATGAATGTTTTGAATCACACACAATGTCTCCTGGGAGCCTAGTCAAGTCATCCTAGAGTCCTCCCACTCTGAGGCTGGTGAA
ATCTCAAAAAAAAAAAAAAAGAATGTTCCTAGGCAACCATTAGGAGCACATTTTCTGTGACTATTTAAGTTTTGGAAAAAAAGAGAATAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGCTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCAGAGTTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCATCTCGAAAAAAAAAAAAATACTTAGATCAGAAAAAAACAAAACTTTTTTTTTTTTTGGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCACTCTCAGCTCACTGCAACCTCCACCTTCTAGTTTCAAGCGATTCTCCCACCTCAGCATCCAAAGTAGCTGGGACTACAGGTGCCCACCACCAAGCCCGGCTAATTTTTGGTATTTTAGTCAAGACAGGGTTTCACCATATTGCCCAAGGTGGTCTCGAACTCCTGAGCTCAGGCAATCTGCCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCGTGGGCCACCGTGCCTGGCCCAGAAAAAAAAAATTCTTAAATAATCATTATCAATACTGACAAGGATAAAGTAAGAACTCTCAGAAACTGCTAATCAGAGTGTAAACTAAGACAACTACTTTTTTTTTGGTAGAGACAAGTCCTGCTATGTTGCCCAGGGTGGTCTCAAACTCCTGGGCACAAGCTATCCTCCCTTATGCCTCCCAAAGCACTAGGATTACAGGCACAAGCCACCACATCCAGCCTGTGATTTCTTTTTATGCTTTCTTTGTGTATCTAAATTTTCTACAAGTAGCATGTGTTGCTTTTATAATAAAAGAGGAAGTATTCTTGCCACTGAGCTTAAGAAAAAGAAAAAAAAAGAGAAAAGGGATGCTAAAAAAAAATAAAGAACACATGATTTTCCTTCAAATTCCTAGTGATTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTTCCGAGTAGCTGGGACTACAAGCACCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCTGACTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTCTTAGACTTTCAAGCATCCTTTCATCTGAGTGGCTTCAAAGAGCCGGACTACTAGATCCACAGACCACGTTCCTCCTATCTCCACTCGTGGAGAAGGCCGGCATAATGATCACCATAAGCTTGGAGTCAGAGATGTGATTCCCAGATCTGCCACCCTCCTATATATTTAGTAATTACAAGAAGTTAGCTAATTTCCTTGAGCTTCGCAGTCTCCTTGAATAAAATGGAAACAAGAATGCCTTCCTTACAAGTTAGAGTAAGGCCTTTAGAGAATGAGATAATGCTTGCAAAGAGCTTAGTACAGTGCCTGGCCCAAAGCAGATGCCCAGAAACATGCGGCTATAATTGCAATGATCTTTCGGTTGCTGGGCTCCAGATTCCACTTTTCAGAACTTCAGTTTCACTATGAGGAAGGGGTGCTGCCTCCCTAATTTGGCTAGATAAGCCTTCTCCACAGGGCAAACCCCTGACTCAATTTCATGTTTGAATTCCCAGACTGCTACCGAAACCTTCCCTTCTGAAGTTCTGTTGCCTCCTGTCCACTACAGGGCTGAGCACTCACGCTCTAATCCGATCCTCGTGGTACCAGATGTCTTGGATGGGAGCTTTGGCTTTGCCATATCGCACTCGAGGCCTTTGGAAGACGGGCTCCCTCAGCCGGGGAAAGGCGTCATATACGTCAAACCACAGGGGCTTCTCCTTCAGCACCCCGGCCCGAACCAGGTCCCGAGTCCTTAGGGAGGGAACAGAACGAAACTGGGTCACTTGCAGTAGCCTGCCAAAGCCCCTGAATCAGTCTAGCACAGTTTGGGACATTAAAGGTATTATGCGGTCTGCAACACAGAACGGGGAAGGACTGCTCCCCACCTACAGAGAAGATCTGTCCACATCCCAAACCAAACTTAACAACGCTCAGGAGAGTTAAATCCCTCTATCTTCTTTTGTGCGTCCCACCCACGTTCGGTCACGGAAAAATGCAAAGAGCGGTCTTGCATGACCTGATAAGGAAGGCCCATCAGGCTCTTCCTCCCTTCCTCTTCCTAGAGACCTCCACTCGGGGAGAGGCAGCTGCAATAATCTTTAACATGACACATAAATTCAAGGAGAGGCATCCTCAGGCACAACTATTCGGAGCCAGGAGAAAACATGAGAGGGCCTCACCCAGCTCAGCCCCCGCACCCTGCAATACGCCTCGCCCTGCTCAGGTCCGCTCCAAGGAAGAGCGTGACCGGCTGAGAACCCCAGCCTGGGGGAGGCACCCTCAGCCCACCACGGCTGGGAGCACACACCGAGAGAAGATGCTCCCTACGGTTTCCAGCCGGCTGCCTGCCATGATCTGCGCCTGGTACCGAGCGTGACTAGCTGCTACCGGAACCGGAAGCGGCTGCTCCAGGTAAAGGGCGCATAAGTTGCTGGCCGAGCCAAGGATCGCTGGGCTTTCACCGCAGCCCCTGCGGGAGAGCGGCGCAGGCAGAAGCAAGTGATAGGCCGAACGGGCGCGCTCCGAGGTTACTTGCCAGGTTCAGGCAGGAGCACTCGATAGCCGAGCCAAAAGGGCAGGAGCGAGCCAAAGCCGGACAGAAGTAATAAATGACCGAGCTGTGGGAGGGATTCATCATGATGGTTGCTTTACTCTCTCTCGCCTTGTTGAGCCAACTCCTCTGAAAAGGTGGGGCCGCGCGGAGGAGAAGTAGTGGGGCAGAGCAGGGGTGAAGCGCAGCCTACAGTCCTAGGGGAGCCAACAAAGGCCGAGATTTGAGGTCACCAGCTCTAGGCCCAGGCTGAGCCTAATGTTGTTTAGAGTCACAGACTACGCAGAAGAAAACCAAGGCCGGGGAGGGGCCGTCACTTGCCCAGCGTCGTGCTAGATCTCGGGCCTCCGCCTCTGGCTGTGTAGTGCTCCCCACTAAGCCCCTCGTCCCCGGAGTGCCACCTGCATCCACGCTAACTAGGATGCTGGCTGCAACTCGTGTTTCCCGCGGCCGGTGTCGCGGGCTACCTCCTCCTTGGAACTCGAAAAGTGAAAGTGTCCGGAACAAACAGACGCCGAGAGGGAAACGAAAAAATCTGGAGAAAGTCATCTCTCAGTGTTAAACTGTAAAAAAATATAAACTGTGTGTAGCATACCCTTTGACCCAGTAATCATATTTCGGGGAAAGAACCCCTTAGAAATTAAAGCATCAATTCATGAGGATGTTTGTGCAAGGATCATCGTTGCAGCATTGTTTGTAGTGGGAAAAAAAATCCATCAGATGAGAAATAGCTGGAAAATTATTGTTCATACTTTCTTTGGAACCCTATGCAGCTATTAAAATGAATGAGCTAGATCCACATGTATTTACCAAGGTTAAGGTACATGACTTATGTTTAAATGAAAAACGAAGTTGCAAAGAAACATGTTTAGTGGAATCTCAACGTGTTAGAAAAAAAAAAGGAAAAAGAAACACCTCTATATATGTTTGTGTTTGAGGATAGAAATTCTGCAGAAGGACACCCAAGGCTGTGAACATTGGATATCTCGGAGTGAAACTGCAGGCAGGCAAGGGAGAATTTTTTCTTCCTTTACACATGCTTCAGAGTTTGACTTGTAAAGAGATTGTATTCATATTTGAACTTTTAATCCAATGAATGTTTTGAATCACACACAATGTCTCCTGGGAGCCTAGTCAAGTCATCCTAGAGTCCTCCCACTCTGAGGCTGGTGAA
Task1_train_25206
This alteration occurs within gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCATGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
Task1_train_25207
Here is a mutation in LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Neurodevelopmental delay
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCATGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
Task1_train_25208
This variant lies on Chromosome 17 and affects the gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Intellectual disability
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
AAATCCACACGAATGCGGTTTGGTTGGGGCAGGAATCCACTCCTATGTTCCTGGTAATCTGATCCCGCTCCATGAATCCTGGTAATTCATCCTCCCTATCCTATCCACATTATGATTTGAATCCAATGATCCAGCTCCAAGGATTGGGATCCAGTGAGCCCTCTCCAATCCAAACCTTTATAACCAGCAAAACCAAAAAAGAGGAGGCAAAATGTTAGATACTGTAATCAAAAAAGGTTTCTGGGGAATGATGAGTTATGTCTGTCATCAGTTTAACAGATGCACATCAATAACTATCAAATTCCCCAAAACAAGTTTCTGAATGGTGTTCAGATAAATTTTAGAAACTTAATCATCATAGAGACTAATTGGAAGAAGCATTTTGTATTTACAGTTCAACTGATAATGCCAACACTTGTTACTGTACAGCGTATTACAGGTTTCGTGGTTGCAAGAAGTTACGTAATTTAAGTTTACTGGCATTGCTACCCACCTAAGTCTAAAACTAAATCTAATGCTCCCATTTGCAATTTAATTTGTAAATTAAAGTCTTTTAAACATATGAACCAATTATGAATATTAGTTTAAAGGGGAAGGTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCATGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCT
Task1_train_25209
A change on Chromosome 17 affects gene SRSF1 (serine and arginine rich splicing factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Neurodevelopmental delay
GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTG
GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCCGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTG
Task1_train_25210
Mutation context: Chromosome 17, Gene SRSF1 (serine and arginine rich splicing factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Intellectual disability
GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTG
GTGAGACTTAAAAGTATTCCCAACTAGATTATCTACACCAATACATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCCGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTG
Task1_train_25211
Here is a variant affecting SRSF1 (serine and arginine rich splicing factor 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Neurodevelopmental delay
CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAA
CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGTGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAA
Task1_train_25212
A variant was discovered on Chromosome 17, affecting SRSF1 (serine and arginine rich splicing factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Intellectual disability
CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAA
CATTGGAACTCTATATTTTGCTTTCATTTTGTCTTAAAAAAATGAAATAGCAACGCTCTATCAGTCACACAGAGGACATGCAGATTTAGCAGTATTGATATTATACTCTATCTTGTTGGATTTAAAAACACCCTGTACCCACATGTACACCAACAGCAGGTCACACATTAACAGTTGTAACTAAGCACTGTGACAAATTAGCCAGTTCTTCCCACATTAGTCCCTATTAAAACAAAAATGGGGGGAAGGGAGCAAAATAAGTTGCTACAAAATGGGCAATATAATTTTGCCACAATTGCCAAGGTTTAAAAAGCAAAGCAATTGTAGCTAAAGACAACTGAATAAAATGTTTGCAAGTGTTTTAAGGAAAATGTATATAATCATTTTTAACCCCTGCCTTTTAGTATAAGGTCAATACTGCCAATTTCATCTGTGACAATAGCACTTGGAGTCATACCATTGCCTCCATTATTGATCTGATCCTCCTCAATCCTCCTTTTGACAATCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGTGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAA
Task1_train_25213
Here’s a variant in SRSF1 (serine and arginine rich splicing factor 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Neurodevelopmental delay
TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAATCCACTCTACGCGGGAGGCTGAGGCAGGAGAATCGCTAGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCATTGCACTGCAGCCTGGGCTACAGAGTGAGACTCCTCCAAAAAAAAAAAAAAGGAGGGGGAAACAACAACAAATTAAAATCAAACCCTGCAGTCATAAATTTGCCATAACAGATCTACACACTGAATTTAAGGGATAATTTTCTTCATGTTATTTATTTACAGTAGTCCCTTTCCGCAAGGATGTGAGGCAACTTACAGAGATACCATAAAACATGAAAACTAGATGAGGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTCGGAGACCAACATGTCGAAACCCGTATCTTCTAAAAATACAAAACATTAGCTGGGTATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGTAGGGTGAGACAGGACAATCTCTTGAACCC
TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGACGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAATCCACTCTACGCGGGAGGCTGAGGCAGGAGAATCGCTAGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCATTGCACTGCAGCCTGGGCTACAGAGTGAGACTCCTCCAAAAAAAAAAAAAAGGAGGGGGAAACAACAACAAATTAAAATCAAACCCTGCAGTCATAAATTTGCCATAACAGATCTACACACTGAATTTAAGGGATAATTTTCTTCATGTTATTTATTTACAGTAGTCCCTTTCCGCAAGGATGTGAGGCAACTTACAGAGATACCATAAAACATGAAAACTAGATGAGGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTCGGAGACCAACATGTCGAAACCCGTATCTTCTAAAAATACAAAACATTAGCTGGGTATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGTAGGGTGAGACAGGACAATCTCTTGAACCC
Task1_train_25214
This sequence variant lies in SRSF1 (serine and arginine rich splicing factor 1) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Intellectual disability
TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGCCGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAATCCACTCTACGCGGGAGGCTGAGGCAGGAGAATCGCTAGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCATTGCACTGCAGCCTGGGCTACAGAGTGAGACTCCTCCAAAAAAAAAAAAAAGGAGGGGGAAACAACAACAAATTAAAATCAAACCCTGCAGTCATAAATTTGCCATAACAGATCTACACACTGAATTTAAGGGATAATTTTCTTCATGTTATTTATTTACAGTAGTCCCTTTCCGCAAGGATGTGAGGCAACTTACAGAGATACCATAAAACATGAAAACTAGATGAGGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTCGGAGACCAACATGTCGAAACCCGTATCTTCTAAAAATACAAAACATTAGCTGGGTATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGTAGGGTGAGACAGGACAATCTCTTGAACCC
TCCTAAAATGATTGAAATGTGCTCCACAATCCTTAATCCAAAGCATTCTTAATCCATCTCTTCAGATATGTCTACAGAAAGACACATGAAAAGCAAGATAAACATAAGAACTTCCCCAGGTAAGATAACCACAAACACCCCCAACATCCCAGTTCACACAAACCAGGGCAGATAGACATTTACACAATATCACAGTCTGAAGAGTATGGAGTTAACTAAATTTAAACAATCCTGTCTATGACATCACTTAAAATACAATTTATCAAAGACACGAAGGGAATGTAGATGTTAGGAGCAAGGGGATATTACAAGAATGCAATTCAACACTTTAGCCCATTCTGAACAAAACAGTTTGAATTAAAAAATGAAAAGATTGTACTGAATAAAGGAAAACTGTATACAACATGGGTTCTACAAAAAGTGTCACCAATCATCTTATGTACGAGAGCGAGATCTGCTATGACGGGGAGAATAGCGTGGTGATCCTCTGCTTCTCCTTGGGGAGTAACTGCGACTCCTGCTGTTGCTTCTGCTACGGCTTCTGCTACGACTACGGCTTCGAGATCGAGATCTTCCATAACTTGGACTTCTGGGCCCATCAACTTTAACCCGGATGTAGGCAGTTTCTCCCTATTGGATAGACAGAACTTTCCATTGAAAGATCTAAGCTTTCATCTATCTTCAGACATGCTGAATGAATACAATGTAACTAAAACCAGAAATCTGGCAATTTACTTGGACAACCTTGCCTGAATCCTTACCTTGAAATTCCACTGTTAAGACCACTGTATCCAATTCTGGTCAAAGAAAAGAATACGTGTATAACCTACCTCATGAGATCTAAACTTAGTGTTATCCAGTTTTCGAACTGCATAGGTCATATCTTCTTTCCGTACAAACTCCACGACACCAGTGCCATCTCGGTAAACATCAGCATAACATACATCACCTGCTTCACGCATGTGATCCTTTAAATCCTGCCAACTTCCACTTGGAGGCAGTCCTGAAAAAGTGATTTTTTTTTTCTTAGTACCAATTATCTTAAATTTCACGTTAAGCTGGTAAGGTACATTAGGACAAAGAGTACTTTAAAGTACTTAATAGGTGTACTTAAGTGATACCAGGTAAAGAGAGCTGGTAAGATTCTGGAATCCAGAGTCCAAAATTATTTGTAACGATCTTCGTATCTAGTACCGCAACCTAATTTGGTAAATCACCACAGCAGCAATCCTCGTTTATTAAATTCACCCAAAAACTAAAGCAATTTAAGACCTAGCATGAAAAATTTGCAATTATTAAACCTGTCACGCAAGAGAAAAATTTTAGGTAGTTTTCGTCCCTTCACATCAATCCACACAACCAGTACACTCACCAGAGACAACCACTCTGTTTTCAGACCGCCTGGATGGGGGGCCATAGCGACCTCGGGGAGCTCCGCCACCTCCACCCCCGCCGCCGCCTCGGCCTGTTCCACGGCCGCTTCGAGGAAACTCCACCCGCAGACGGTACCCATCGTAATCATAGCCGTCGCGACCATACACCGCGTCTTCCGCGTCTCTGCGGGATCGCAGAAAGTAAAAGGGATGAGAAACACCAGGAGGAGAAGCTCGCTCAGTTGGGAACCAGCAAACCCCCCGCACATGCGCACCCAACGTGGAAGAGCCCACATGCGCCGCATAATAGGAATGGCCCCTCCCCCACCCAGAAACACGCCAGGCTCCCAACCACTACACCAGCCCTCAGCGCCTCAGTTTCCCGCTCCAGCCTGCGAATGGGCTCCGGGGACGTCCAAGGCGAGGCGCCAGAGAAGCCACATCAACTCAGCTCCTTACTCGACTCCTGCATGGGCGATACAGTCTCGCCCCAACCTCTCTAAGAGCCCCCGCTTCCCCGTTCTCTATGTTAAGGCCTTGGAGCCTTCCCCAACTACTCGGACCTATTTCCTCAAGGCTGCAAGCCCCATGCCGCCTCACCGCGGGTCCTCGAACTCAACGAAGGCGAAGGGCGGTCCCCCGCGGCGATTCTTGAGGTCGATGTCGCGGATAGCGACGTATTTGTAGAACACGTCCTCAATGTCCTTGGTTCGGATGTCTGGAGGTAAGTTACCCACGTAGATGCGGCAATCGTTGTTCCCTGCGGGGCCACGAATCACACCACCTCCCGACATGGCGGTGACGAAAAGCGCGGACTCGAGAACAGGCCTTCCCACCAAGCCTAGCGCACGGCAGAGCGAGCCCGCAGCGGCACCACGTCTCCCGCGGCCCCTCCAAAATGGCGCCTTTATCAGCTCGGCGCACGGATATGGGGGGGAGACAGAGGAAGAGAAGCGGAAGGAAACAGCGATTCGATCCCAACACGCACGCGCGGGAGCGCAACGGGTGCTGCGAGGGCTACGTTCAGCGCACGCGCACGCACGCGCGACGTCACCCTCCCCACGAAGGGGGTAAAAAAGTCCCCCGCGTTCCCAGCTTGGGGTGGTTTGCGAACAGAGTGACCAGCCGTTTGGTAAAAGTTAAATAACGAACTTTCGTTAAAGGAGCTAGTCATCCAGGTCGGGTCTTGAAGGATGGTCGATTTCTCCAGGAATGAGGATCTTTGAAAGCAACTCGGCGCCTTCAAAGCACTTGGTGAAACCTAGCCTAAAGCGTTGTCCCACCATGCTCTGCGGCGATAACGGCCTTTGGCGGGAAAGAGTCTCGGAGGCGGGGCCAAAGGGGGACGGCCCGGGCGGTTGCTCCGGAAACCCGGGTATCTTCGTAGGGTGCGTCTAATCCAGAGCTGAGTTGCGGGTGATTGAACGGAGAGCTGGGGCGTTGGTTTGTCTTCCCGCCCCTGCTGCGAATAGACCGTGGCTGCTTAGACAGATGTGTCTAATTTAGCGAAACCGATTTAGATTCCTTAATCCTCTTCATTAAGTACCGTTCCGCCTTCTCGTCAGAACTTTGCATAGCTCGGGTCAGCACTCCTAGTGCTAGTCGCAGTGGGTCCGTATCCCGACCGGCAACGTGGTACCCGCCAACCAGAAGGGGTAACACCGTACCGCCTATGGGACCCACACCTTTTTATCTCTTGTTAGTCGCCTGTCCGTGGGACTAGCGCAGAATGCCTGCAGAATGAATCGTTTCTGTTGTTTCCTTTCAAAGAACGAGAAGGAAGAAAGGGTGCGTGTGTGCAGTCCTTTTTTCAAAAGTTTTCCCTAAAAGTTACTGATACACCAGGTTTTGAAAATACCGGTCCTCTCAGGTAATAAAATGGAGCAAAATGGATGTGAGAACCGTAACCACTAGATACCGCGGTTGCTATTCAGGACTGTGATCCTGTTTGCCTGCGGCATTGGGAGATAACATTTTACATTTTTTTTCGACGTCTGAAATCTGGATTTTTATGTGAAATCCTGGGATTTTTAAACGTCGCTAATGAATTAAAATTCAAATCAGGCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAAAACAAAAAATTAGCCGGGCTTGGTGGCAGGCGCCTGTAATCCACTCTACGCGGGAGGCTGAGGCAGGAGAATCGCTAGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCATTGCACTGCAGCCTGGGCTACAGAGTGAGACTCCTCCAAAAAAAAAAAAAAGGAGGGGGAAACAACAACAAATTAAAATCAAACCCTGCAGTCATAAATTTGCCATAACAGATCTACACACTGAATTTAAGGGATAATTTTCTTCATGTTATTTATTTACAGTAGTCCCTTTCCGCAAGGATGTGAGGCAACTTACAGAGATACCATAAAACATGAAAACTAGATGAGGCTGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTCGGAGACCAACATGTCGAAACCCGTATCTTCTAAAAATACAAAACATTAGCTGGGTATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGTAGGGTGAGACAGGACAATCTCTTGAACCC
Task1_train_25215
This mutation occurs in MKS1 (MKS transition zone complex subunit 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Meckel-Gruber syndrome
TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCA
TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCCTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCA
Task1_train_25216
With a mutation on Chromosome 17 in gene MKS1 (MKS transition zone complex subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Familial aplasia of the vermis
TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCA
TCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCCTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCA
Task1_train_25217
This is a variant in MKS1 (MKS transition zone complex subunit 1), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Familial aplasia of the vermis
ATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAG
ATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGACAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAG
Task1_train_25218
A mutation in MKS1 (MKS transition zone complex subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Familial aplasia of the vermis
TGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTCCAGGGAAAAGGTTAAGGCTAGAGGCAGAAACCTGGGAGTCTGAGACGTATTGATGGTATTTAAGCCATAGGATGGATGACGTTGCCCAGGAAGACTGCAGACAGAGAGTAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGTATAAAAGGAGAGACTTAAGAATATTACTTACGAGCAGTTGGCAATTCTACAAAGAAGTGGACGTAGAGATTGTCATACTCATAGCCTTGGGCTGAAACTACGAGAGAAAACAGGAAGCTATTTTAGCTTTTTCTCCTACCACCCTTAGCACCCAACCCAATCCTGAGGGGCCTACACACCCTGAGAGCAAGTCTTTTGAGGGCCAGGAACCCTCTGCGTTTCCAGGAAAGACTCACCACTGAGTTTCCCAAGTACAGCAGACAAGGCCTCTACCAGAGTGGAGGAGACTATTCACAGCTCCATCTAGGCACGTGCCTAAGCATCAAGAGATCTATGCTAGCAAGACACTTACCGACCTCTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGA
TGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTCCAGGGAAAAGGTTAAGGCTAGAGGCAGAAACCTGGGAGTCTGAGACGTATTGATGGTATTTAAGCCATAGGATGGATGACGTTGCCCAGGAAGACTGCAGACAGAGAGTAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGTATAAAAGGAGAGACTTAAGAATATTACTTACGAGCAGTTGGCAATTCTACAAAGAAGTGGACGTAGAGATTGTCATACTCATAGCCTTGGGCTGAAACTACGAGAGAAAACAGGAAGCTATTTTAGCTTTTTCTCCTACCACCCTTAGCACCCAACCCAATCCTGAGGGGCCTACACACCCTGAGAGCAAGTCTTTTGAGGGCCAGGAACCCTCTGCGTTTCCAGGAAAGACTCACCACTGAGTTTCCCAAGTACAGCAGACAAGGCCTCTACCAGAGTGGAGGAGACTATTCACAGCTCCATCTAGGCACGTGCCTAAGCATCAAGAGATCTATGCTAGCAAGACACTTACCGACCTCTTCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGA
Task1_train_25219
The gene MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Meckel-Gruber syndrome
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTACCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
Task1_train_25220
The following genetic variant occurs in MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Familial aplasia of the vermis
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTACCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
Task1_train_25221
Here is a mutation in MKS1, LOC130061271 (MKS transition zone complex subunit 1| ATAC-STARR-seq lymphoblastoid active region 12461) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Familial aplasia of the vermis
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
TACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTACCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCCC
Task1_train_25222
This variant affects gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Myeloperoxidase deficiency
TGACAAAGTCCCGGGGATATGAGTTGGACATGAAGATGTTGTTCTTAGACACGGTGGTGATGCCTGTGTTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGCGGCCTCCAGGGCACCATGCTGGAGGGGGACCCGGGCCCACACACACTCCTGAAGCCCTGTGCCCTGGCCAGGAGCTGCATCCACAGGAGTGGAAGAGAATCTTGGGGGTGGTTTATAATTCGCCCACCCAGAGAGGGGCACCTTTTTCTAATTTTCCCAAAGGTGCAGTACAGGCTAAGCAAGAACTAGACATGAAGACATCAGGACCACGAGGAAATGACACTAAGGGGAGCTGTGGGAAAGCTGGGAGGGGACTGCCCACTGGTGACTGACACCCACATGGTGGCACAGTGAAACCCATGGGAAGAAGTAGCTAAGGGTGGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGG
TGACAAAGTCCCGGGGATATGAGTTGGACATGAAGATGTTGTTCTTAGACACGGTGGTGATGCCTGTGTTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGCGGCCTCCAGGGCACCATGCTGGAGGGGGACCCGGGCCCACACACACTCCTGAAGCCCTGTGCCCTGGCCAGGAGCTGCATCCACAGGAGTGGAAGAGAATCTTGGGGGTGGTTTATAATTCGCCCACCCAGAGAGGGGCACCTTTTTCTAATTTTCCCAAAGGTGCAGTACAGGCTAAGCAAGAACTAGACATGAAGACATCAGGACCACGAGGAAATGACACTAAGGGGAGCTGTGGGAAAGCTGGGAGGGGACTGCCCACTGGTGACTGACACCCACATGGTGGCACAGTGAAACCCATGGGAAGAAGTAGCTAAGGGTGGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCTGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGG
Task1_train_25223
This sequence variant lies in LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Myeloperoxidase deficiency
TTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGCGGCCTCCAGGGCACCATGCTGGAGGGGGACCCGGGCCCACACACACTCCTGAAGCCCTGTGCCCTGGCCAGGAGCTGCATCCACAGGAGTGGAAGAGAATCTTGGGGGTGGTTTATAATTCGCCCACCCAGAGAGGGGCACCTTTTTCTAATTTTCCCAAAGGTGCAGTACAGGCTAAGCAAGAACTAGACATGAAGACATCAGGACCACGAGGAAATGACACTAAGGGGAGCTGTGGGAAAGCTGGGAGGGGACTGCCCACTGGTGACTGACACCCACATGGTGGCACAGTGAAACCCATGGGAAGAAGTAGCTAAGGGTGGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATT
TTGTCGCAGATGATCCGGGGCAATGAGATCTGGGCCAGGGCCTGTCGCTGCTGCATGCTGAACACACCCTCGTTCTCCCACCAAAACCTGCATGGGGAACACCCATGGACACTGTGCCCAAGGATATTCTGGGCTGGCAGGGCATCGATGGGCTTGTGCTGCTCCCAGGATATAACAAAGCCACAACAAATGCCACCTGGAAGCACAGGAGGGCCCCAGGCCCTTGGGCAGCCCAGGGGCTTTCACACAAGTGATGCTCCACTCATCGTGCAGAGTAAAGCACAGCTGCCCAGTGGCCTTTCCCTTACCCCTAGCCCGGCGGCCTCCAGGGCACCATGCTGGAGGGGGACCCGGGCCCACACACACTCCTGAAGCCCTGTGCCCTGGCCAGGAGCTGCATCCACAGGAGTGGAAGAGAATCTTGGGGGTGGTTTATAATTCGCCCACCCAGAGAGGGGCACCTTTTTCTAATTTTCCCAAAGGTGCAGTACAGGCTAAGCAAGAACTAGACATGAAGACATCAGGACCACGAGGAAATGACACTAAGGGGAGCTGTGGGAAAGCTGGGAGGGGACTGCCCACTGGTGACTGACACCCACATGGTGGCACAGTGAAACCCATGGGAAGAAGTAGCTAAGGGTGGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACCATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATT
Task1_train_25224
With a mutation on Chromosome 17 in gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Myeloperoxidase deficiency
TTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAG
TTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCTGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAG
Task1_train_25225
Gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Myeloperoxidase deficiency
GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTC
GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCAGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTC
Task1_train_25226
The gene LOC106694316, MPO (enhancer region in introns 7-9 of MPO| myeloperoxidase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; MPO-related disorder
GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTC
GCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCAGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTC
Task1_train_25227
With a mutation on Chromosome 17 in gene TEX14 (testis expressed 14, intercellular bridge forming factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Spermatogenic failure 23
GACAGGACAAGGAAGCCTGCAAAAGTGTGGTGAGCCCAGCTACCCTGCTTACAGAAAGAGATGCCATCAGAGGAAAGCCAAATGGGAAGGATTCTCTACATACAAACCCTAAGTCAACCAATCCCAGAGAAGTTAAAATGACACTCCTCCCTTCCAAGCTTAACCCTGAGCATGGAGAAAAGCATGGAGCCCACCTCCTGCAGCTGTGATGGGAGAAGAGGGGGCTGCCCATCCAGCTGGCAGCAAGTCTCTCGTATCAGCTGAAAATAGCCCAAGAAACCGTAAGTTAAGCATTTGTGGTCTTTTGCAACCTTAGTAATAAAGGAACACTCTTTCTGTGGTTCAGGAGATGACAAAAAAGCCAGCCAGGTGTCCTGCTGGGTAAGGGTTTTCTGCTGGGCTCCTCAGACCTGAGATGTTCTCCTTCTGCTAACCACAGGGTGGTTTCCATCAGAGCCCACACTCATTCCTCTCACACCTTCTCAGGGAGAGGAGAGAGAGGGCGAAAGGTGATCCTCTGGCCTTCCTTCATCAAGGCCAAGCCTTTTCTTTCCAAGCACACCCCTTTGGATGGGCCAGATGCCAGAGGGCACTGATGTGGAGGAGCTGAGGCAACCCATGCTGCAGGGCTCCCACGAGGAAGGCTGGGTGATGGAGACTATCCCACTCTGCTCAAGGCAGTACTCACCCCTGCACGAGGCCCCCACACCAGGACGGGCTGTAGACAAGCCGCTGCGGGGAGTCTATCTTCTTCAGGAGGTCGTAAGAGAAGCCCTGGATGATGGCCTGCATGTGTGAGGCACAGCGCTGCATGAACTCCACTATCTGCAAAACATCGCAGAGATGCCCAGTGCGGGCGCACCAGTTCTCAATGGAATGGAAGCTTGGGTATGAAGATAAGTGGTCCGAGGAGCTGAGAGCCCCCAACAGAAAAACCTCTCAAAAGGAAAGGGCCCAGGTGATTTTCTAAAGGTATGGAATGTTTTCAGGGAGAGGCTTTAGGGAAACAATTTCCTCCAACTCCCTCCTTCAACAGATGAGGAAACCAAGGCCAAGACGAGTAAAATTTGCTGGTCCAAGGCCCAACAGCTTTAATAAGCAGGAGCCCCAGAAAGGAGACTGCACACAGAGGGGCCTGGCACTGTACCTGCCCTTTGAGTTTTACATTTATGTTATTTAGTCTTCATTAAAACACATCACACCAGCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGCGAATCACCTGAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTTTACTCAAAATACAAAAGTTAGCTGAGTGTGGTGGTGCATGCTTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGCTCGCGCCACTGCACTCCAGCCTGGGCAAGACTCCTTCCCAAAAAAAAAAAAAAAATTCCCACCTGCCAAACAAAGTTACTTAATGTCAGTGGGCCTCAGTTTCCCCACCTGTACAATAAGGACATTAATAGTACTTACCTGAGAGGTTGTTGTGAAGATTGAGTTAATATATAAAAAACATTTAAAACAACATCTGAGTCATGGTAAGTGCTAGTTAAATGGGTCAGACAAAATTACAGTTGTTTGCCTTTCCCATCGAATACGATGAGTAGAAAGGTTCACTAGACCTGCCGGAAGTTTCGCAGCTGGCTAATTTGCTTCGATCCAAGCCTGAGACTCCAGTACCAATACTAAGGCCACTGTACGCTCTGTGCTGACCACTGGGAGCCTGACTCTCAGCCCAGTACTCTTCTAGTGGGCATGGCTACAGAGTGGGACCCACCCTTACCTGGGTGCTACGCTCCTTTCCTGCTGTCAAAGCCCAAGTCTTCGGGTTTTGACCCCTCTCATCGTGGAGTCGCAGGTCACCTCCTGCATCCAGCAGTTTGCTAAGGATCCACTGATTGCCCGAAAATGCTGCTGCATGGACAGGGGTGCTCCCATCAAAGCAGCGGCTGGGGAGGGAGATGAGTACAATTGATGTCCATGGCAATGCTCCTGCATTCCATGGAGCGGGGCTCAGCGTGCAACACAGGGCTCCCATTCTACAAGGCAACGTTGGTGACGAGGAATATAACAACATCATTTGTGAGGCCCCTGTCTGTGCCCACAGGAACTTTCTGTACACACACACACACACACACACACACACACAATCCCTTTTTTTCCCTCCTTCACTCAACCCTTCAAGGAAGTATCATTTCCCAATTTACAGATGAGGAAACAAAACGGCAAAGCTGAGGTTCATTCCCAGGCATAGATCTGGTTCCAAATCCAATTTTCTTTCCCCAGCACTCTGATATTGGCTGCCCAGAAACAATGTCTTCACACCTGCAGTGTCCTGGGATCAGGCTAGTCAAGCACAGCCTAACAAGGCGCCACCTCTCTCGTTTGAGAATGTCTCCCCACAGCCCCCCAAGAAAATCCTGTGGTAGAGCACAAAACCTTGGCATCAGCAATGCAGTCAAGGATCTACACCTCAGAAAAATTTCACCTCAGAAAAATTTCAACAAAGCCAGTAAACTGTCTGAGACATGAAGGGACAGCCTTTAATGTGTCCAGGATATGGTGAGGATATGATGTATAGCCTTAGTTTCCTAACCTGGCTACACATCAGAATCACCAGGGAACTTTCTCTCTTTAACTGAAAAAGAAACACAAATAGGAGGAGGAGGAAGGGAAAAAAAAGAAGAAGAAAGAAGGAGAAGAAGGAGGAGGAGGAGAAGAAGGAGAAGATGAAGAAGAGGAGGAGGGGGAGGGAAGGGGAGGGGGAGGCAGAGGAGGAGGAGGAGAAAGAAAAGGATGATGAAGAGAAGATAAGAAAAAAGTCATCCAACTCCAGACACCCAGTTCTCTTACCAAGATGCAATTACTATTACAAGTTTTTGTATCCTTCTGGAAATGTTCTATGTATATACAAGTATAAATAAGAATACACTAAACAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACGCGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGGTGGTGCATACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTAAGAATGGCGTAATGGCATAAAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGAATACACTATACAAACTCTTCTGTATCTACATATTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCACCCAGGCTAGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGCTCAAGTGGTTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCCGCCACCCATGCCCAGTTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCCGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGAGTGAGCCACCGCGCCCAGCCTTCATATTTTCATTTAAGAATCTATCTTGGAGAAATTTCCATATGAGAAACTACAAGCCATCGCTTCTTGGCCTTTTGGCTAAGATCAAGTGAGAAACTACAAGCCATCTCCATTCTTTTTAACAGCTACATAGTATGCCAATGAATGGGTGTATCATAATTTAGTTAATAATCCACTGGGATATCTGTCAAAAGCACAGATTCTCAGACTACACCTTACACTGACTGAAACAAAATCTGCAAGCACAGGACCCAGGAATGTGGTTTGGTTTGGTTTTGTTTTTCAAATTCCCCTGGTGATACTAAAGAGGCTGGCCTGCACACAGGCTTATAGGAACCACTGATCCCATTGGTTCTCACTGTAGGCTCTCTCCCACTGCTGGGCAGAGAAGCAGTCCAGCACACTGCATCGTGGG
GACAGGACAAGGAAGCCTGCAAAAGTGTGGTGAGCCCAGCTACCCTGCTTACAGAAAGAGATGCCATCAGAGGAAAGCCAAATGGGAAGGATTCTCTACATACAAACCCTAAGTCAACCAATCCCAGAGAAGTTAAAATGACACTCCTCCCTTCCAAGCTTAACCCTGAGCATGGAGAAAAGCATGGAGCCCACCTCCTGCAGCTGTGATGGGAGAAGAGGGGGCTGCCCATCCAGCTGGCAGCAAGTCTCTCGTATCAGCTGAAAATAGCCCAAGAAACCGTAAGTTAAGCATTTGTGGTCTTTTGCAACCTTAGTAATAAAGGAACACTCTTTCTGTGGTTCAGGAGATGACAAAAAAGCCAGCCAGGTGTCCTGCTGGGTAAGGGTTTTCTGCTGGGCTCCTCAGACCTGAGATGTTCTCCTTCTGCTAACCACAGGGTGGTTTCCATCAGAGCCCACACTCATTCCTCTCACACCTTCTCAGGGAGAGGAGAGAGAGGGCGAAAGGTGATCCTCTGGCCTTCCTTCATCAAGGCCAAGCCTTTTCTTTCCAAGCACACCCCTTTGGATGGGCCAGATGCCAGAGGGCACTGATGTGGAGGAGCTGAGGCAACCCATGCTGCAGGGCTCCCACGAGGAAGGCTGGGTGATGGAGACTATCCCACTCTGCTCAAGGCAGTACTCACCCCTGCACGAGGCCCCCACACCAGGACGGGCTGTAGACAAGCCGCTGCGGGGAGTCTATCTTCTTCAGGAGGTCGTAAGAGAAGCCCTGGATGATGGCCTGCATGTGTGAGGCACAGCGCTGCATGAACTCCACTATCTGCAAAACATCGCAGAGATGCCCAGTGCGGGCGCACCAGTTCTCAATGGAATGGAAGCTTGGGTATGAAGATAAGTGGTCCGAGGAGCTGAGAGCCCCCAACAGAAAAACCTCTCAAAAGGAAAGGGCCCAGGTGATTTTCTAAAGGTATGGAATGTTTTCAGGGAGAGGCTTTAGGGAAACAATTTCCTCCAACTCCCTCCTTCAACAGATGAGGAAACCAAGGCCAAGACGAGTAAAATTTGCTGGTCCAAGGCCCAACAGCTTTAATAAGCAGGAGCCCCAGAAAGGAGACTGCACACAGAGGGGCCTGGCACTGTACCTGCCCTTTGAGTTTTACATTTATGTTATTTAGTCTTCATTAAAACACATCACACCAGCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGCGAATCACCTGAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTTTACTCAAAATACAAAAGTTAGCTGAGTGTGGTGGTGCATGCTTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGCTCGCGCCACTGCACTCCAGCCTGGGCAAGACTCCTTCCCAAAAAAAAAAAAAAAATTCCCACCTGCCAAACAAAGTTACTTAATGTCAGTGGGCCTCAGTTTCCCCACCTGTACAATAAGGACATTAATAGTACTTACCTGAGAGGTTGTTGTGAAGATTGAGTTAATATATAAAAAACATTTAAAACAACATCTGAGTCATGGTAAGTGCTAGTTAAATGGGTCAGACAAAATTACAGTTGTTTGCCTTTCCCATCGAATACGATGAGTAGAAAGGTTCACTAGACCTGCCGGAAGTTTCGCAGCTGGCTAATTTGCTTCGATCCAAGCCTGAGACTCCAGTACCAATACTAAGGCCACTGTACGCTCTGTGCTGACCACTGGGAGCCTGACTCTCAGCCCAGTACTCTTCTAGTGGGCATGGCTACAGAGTGGGACCCACCCTTACCTGGGTGCTACGCTCCTTTCCTGCTGTCAAAGCCCAAGTCTTCGGGTTTTGACCCCTCTCATCGTGGAGTCGCAGGTCACCTCCTGCATCCAGCAGTTTGCTAAGGATCCACTGATTGCCCGAAAATGCTGCTGCATGGACAGGGGTGCTCCCATCAAAGCAGAGGCTGGGGAGGGAGATGAGTACAATTGATGTCCATGGCAATGCTCCTGCATTCCATGGAGCGGGGCTCAGCGTGCAACACAGGGCTCCCATTCTACAAGGCAACGTTGGTGACGAGGAATATAACAACATCATTTGTGAGGCCCCTGTCTGTGCCCACAGGAACTTTCTGTACACACACACACACACACACACACACACACAATCCCTTTTTTTCCCTCCTTCACTCAACCCTTCAAGGAAGTATCATTTCCCAATTTACAGATGAGGAAACAAAACGGCAAAGCTGAGGTTCATTCCCAGGCATAGATCTGGTTCCAAATCCAATTTTCTTTCCCCAGCACTCTGATATTGGCTGCCCAGAAACAATGTCTTCACACCTGCAGTGTCCTGGGATCAGGCTAGTCAAGCACAGCCTAACAAGGCGCCACCTCTCTCGTTTGAGAATGTCTCCCCACAGCCCCCCAAGAAAATCCTGTGGTAGAGCACAAAACCTTGGCATCAGCAATGCAGTCAAGGATCTACACCTCAGAAAAATTTCACCTCAGAAAAATTTCAACAAAGCCAGTAAACTGTCTGAGACATGAAGGGACAGCCTTTAATGTGTCCAGGATATGGTGAGGATATGATGTATAGCCTTAGTTTCCTAACCTGGCTACACATCAGAATCACCAGGGAACTTTCTCTCTTTAACTGAAAAAGAAACACAAATAGGAGGAGGAGGAAGGGAAAAAAAAGAAGAAGAAAGAAGGAGAAGAAGGAGGAGGAGGAGAAGAAGGAGAAGATGAAGAAGAGGAGGAGGGGGAGGGAAGGGGAGGGGGAGGCAGAGGAGGAGGAGGAGAAAGAAAAGGATGATGAAGAGAAGATAAGAAAAAAGTCATCCAACTCCAGACACCCAGTTCTCTTACCAAGATGCAATTACTATTACAAGTTTTTGTATCCTTCTGGAAATGTTCTATGTATATACAAGTATAAATAAGAATACACTAAACAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACGCGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGGTGGTGCATACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTAAGAATGGCGTAATGGCATAAAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGAATACACTATACAAACTCTTCTGTATCTACATATTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCACCCAGGCTAGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGCTCAAGTGGTTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCCGCCACCCATGCCCAGTTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCCGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGAGTGAGCCACCGCGCCCAGCCTTCATATTTTCATTTAAGAATCTATCTTGGAGAAATTTCCATATGAGAAACTACAAGCCATCGCTTCTTGGCCTTTTGGCTAAGATCAAGTGAGAAACTACAAGCCATCTCCATTCTTTTTAACAGCTACATAGTATGCCAATGAATGGGTGTATCATAATTTAGTTAATAATCCACTGGGATATCTGTCAAAAGCACAGATTCTCAGACTACACCTTACACTGACTGAAACAAAATCTGCAAGCACAGGACCCAGGAATGTGGTTTGGTTTGGTTTTGTTTTTCAAATTCCCCTGGTGATACTAAAGAGGCTGGCCTGCACACAGGCTTATAGGAACCACTGATCCCATTGGTTCTCACTGTAGGCTCTCTCCCACTGCTGGGCAGAGAAGCAGTCCAGCACACTGCATCGTGGG
Task1_train_25228
The gene TRIM37 (tripartite motif containing 37), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Mulibrey nanism syndrome
TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCCCTCTCCCATCTTGGTTTGTCTTAATCCTACTCATCCTTTGCACTTAGCTCAGATTTACAGGATCAGCTGCTATAGTTATGCATCCTCATCAGCTCTCTGTATTTATTCCTATAATTTATCAAGCCAATTGAGTATGTAATTGTTTGATATGTTCATCACCAAATCCCTAGTCTTTACCACAGCTGAATGAATTAGAAAGACACTTGAAGAAAAAGCCCAGGATACAAAATTAACAAAAGCAATGAACCCATTTTCCATCCCACAGAGTTACTACAGAGACAGAAGACTGATACAAGTTAGCCTCACAAATCCAGTTGCATTCAGCTCAAAGAACAATTTTTATAGCTAACTACCTAAAAATAATTTTGATTTGTAACCAGAATTATTAAATTTTAATATAAGAAACCTCCTATAAGTTCTTACTAGAATTGTCTTATTTAGCCAAAGTATCCCATTATTGTCTCCAAAAAAGATGTAGATTTTTACATGTTCACTTTAAGTATAGAAAAAAACATTTCTACTGTCTCTTACAAAACCTATGTATTTAAAGTATTAAATGTGAGAACTTAATTTTTTCTAGTTAGCACATTAATATTCAAATTCTAGCAGAAAGCTCTGAATTGAGCTCTACTCAACCAATCTGGCCTGCCACTCTCTCCGTAAAACATACTGACTGATGCCCACAGAATGATCAATTCTTATAGCAACTCTAGATACCTACCCACTTCCATTTCACCCATAACTTATTTTTCCTAAGAATCTATTGTGTTTATTCTCAACCTATTTATGCCAATTGTACTTATTATTGTAAGGAGATCATTTAATTAAGTATTCAGAGGCTGGGCGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGGCACATGCCTGTAATCCTAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCTCAAAAAAAAAAAAAAAGTATTCAGTAAACAACAGAACACGACTTTAAAATAAAAAAGCTGCTTCTAAGAAAGCTAACTTCAATGCTTCAGGCTCAATAATGGTAGACTGTCTTTAAAAACTGCTCTTGAATTCAATTGGAAAAAATAATCTAAAAAATAAAAAATAATTATAAGATCTAGATAGGCGTACTCATGTTGTTTCACAAGTGTCTAAGTTCGTGCTCCATTTTAAAGGAACTAAAATTGGAAATGTTGGCCAGTACATCTGATCAACTGACCTTTAATGAAAAAAGTGACCTAGATCCTACAACGAAAAGATCTGCAAATGAATAGAGGATATGTTTTATAGGTGTTACAGATTAAAATATTTACATAAGGGGTCCATCAAACCACACAAACAAGATTCTTCTGGAATAAAAGTACAATACCTTTAATAAAGCGTATAGAAAGCAGATGCATTTTAACTTTCATTCTACGAGAGCATAATGACACTATTTTCTATCTGAATAAGTATTTCAGTGCCTTCTAGCCTCTAACTTAAAAAAAATACTGAATTTGTTCTGCTCACCATTCCTCCCCAAAGTGCACACTGATGGCAGATACACTTCTTACAAGTCCAGCAAAATACACTAAGTTTTTCATGGTGATTTTCACATCTATACATTATGAAAAGAAAATGAAGTTATAAATTAAATTGGAACATAATCACCTCCACAAATTCTTAAGCTTGGGCAAACAGGTCAGTTTTAAATGATTATATCTCAAGAAACACAGTATAAAATGTACTCCATGGCTTCTGAAAAGGAAGCTAAAGAAGTTTATGCGGACAATTTTTTGTAAAGTACTGTTTTCATTGATCTGGACTTTATAATCACATGCGAAATACAGATTTGCTTCTTAAAAACATAACACATATTGCATCATTTCCACACAGCACTACAGATGATATATTCTATTGTACTACTACATTTTGGGCATGTGCTTAATAATCATATTGATTATGCATCTATACCTACATGAGCATGCACAAGTACTTTTCCTACATGTGGTCAACGATAACAATAATCAAGACACATGATTAACTGCACGATTTAATACTAGACCCTCATGGAAAATGAACAACTCAATTTTAAATGTTCTTTTAAACTGGATATTCACATGAAAAACAATAAAGTTAGACTCTGTTATGGATTAACTATGTCCCCCCTCAAATTCATAGGTTAAAGCCTTAACCCCCAGTGTGAATGTATTTGCAGACAGAGCCTTTAAGGAGGTAATTAAGGTTAAGTAAGGATCACAAGGGCAGGACCCAAATCCAACAGGACTGGTGTCCTCTATAAAGAGGAGGAGACACCAGGCATGCACGTGCACATAGCAAAGATCATGTGAGGACAGAGCTAGGTGGTGGCCATCTATAAGTCAAGGAGAAAGGGAGGCCTCACTAGAAACCAACACTGCTAGCATTTAATCTTGGACTTAACACCTATCAGAACTGTGAGAAAATAAATTTCTATTGTTTAAGCTACTCAGTTAGCAGTATTGTTATGAAAGACCTAGCAGACTAATACAGACCCTCACTTTATACCATATACACAAATAAACTACAGGCCGGGTGCAGCGGTGGCTCATGCCCGCAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGAACACTTGAAGCCAGGAGTTTGAGACTGGCCTGGCCAATATAGTGAAACTCCTTCTCTACTAGAAATACAAAAAATTAGCTGGGCGTGGTGGTGCACTCCTACAACCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGATAATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAGACTCTGCCTCAAAAAAAAAAGAAAAGAATGAAGGTTTAACATCCAGAATATATAAATAACACCTGTAACTCAACAAATAAACTTTAAAAACTCTAATTTAAAAATGAGCAAAAGATCTCCAGTAAGCATATGAAAAGATGCTCATTACTACTAATCACTAGAGAAATGTGAATCCTAACCTCATACCATATTAGGATGGTTGCTATCAAAAAAACAAAAAAGAGCAAGTGTTGGCCAGGATGTGGAGAAACTGGAACCCTTGTGCACTACTGGTGGGACTGTAAAATGGTACAGTCACTATGGAAAACAGTATGGAGATTCCTCAAAAACTTAAATTAAAAATAGAATTACCACATGATCTAGCAATTCTACTTCTGATTACATAACCAAAAGAACTGAAAGCAGAGTCTCAAAGACATGAACATCCATAGTCATAGCAGCATTATTCACTACAGCCAAAAGGTGGAAGCGACACCAATTTTCACTGAGAGATGAATGGACAAAAAAAATGTGACATATACATACAATATAATATTATTAACCCTTAAAAAGGTGGGAAATTCTGACACATGGATGAACCTTGAGGACATTATGCTAAGTAAAATAAACCAGTTACAAAAAGAGAGGTACTGTATGGTTCCACTTATATGCAGTATCTAGAGTACTCAAACAGATAGAAACAGAAAGTACAATGGTGGCTGCCAGGGGCTGGTGCGAAGAAGGAATGGGGAGTTGTTTAATGGGTACAGTTTCAGATTTGCAAGTTTAAAAAGTTC
TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCCCTCTCCCATCTTGGTTTGTCTTAATCCTACTCATCCTTTGCACTTAGCTCAGATTTACAGGATCAGCTGCTATAGTTATGCATCCTCATCAGCTCTCTGTATTTATTCCTATAATTTATCAAGCCAATTGAGTATGTAATTGTTTGATATGTTCATCACCAAATCCCTAGTCTTTACCACAGCTGAATGAATTAGAAAGACACTTGAAGAAAAAGCCCAGGATACAAAATTAACAAAAGCAATGAACCCATTTTCCATCCCACAGAGTTACTACAGAGACAGAAGACTGATACAAGTTAGCCTCACAAATCCAGTTGCATTCAGCTCAAAGAACAATTTTTATAGCTAACTACCTAAAAATAATTTTGATTTGTAACCAGAATTATTAAATTTTAATATAAGAAACCTCCTATAAGTTCTTACTAGAATTGTCTTATTTAGCCAAAGTATCCCATTATTGTCTCCAAAAAAGATGTAGATTTTTACATGTTCACTTTAAGTATAGAAAAAAACATTTCTACTGTCTCTTACAAAACCTATGTATTTAAAGTATTAAATGTGAGAACTTAATTTTTTCTAGTTAGCACATTAATATTCAAATTCTAGCAGAAAGCTCTGAATTGAGCTCTACTCAACCAATCTGGCCTGCCACTCTCTCCGTAAAACATACTGACTGATGCCCACAGAATGATCAATTCTTATAGCAACTCTAGATACCTACCCACTTCCATTTCACCCATAACTTATTTTTCCTAAGAATCTATTGTGTTTATTCTCAACCTATTTATGCCAATTGTACTTATTATTGTAAGGAGATCATTTAATTAAGTATTCAGAGGCTGGGCGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGGCACATGCCTGTAATCCTAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCTCAAAAAAAAAAAAAAAGTATTCAGTAAACAACAGAACACGACTTTAAAATAAAAAAGCTGCTTCTAAGAAAGCTAACTTCAATGCTTCAGGCTCAATAATGGTAGACTGTCTTTAAAAACTGCTCTTGAATTCAATTGGAAAAAATAATCTAAAAAATAAAAAATAATTATAAGATCTAGATAGGCGTACTCATGTTGTTTCACAAGTGTCTAAGTTCGTGCTCCATTTTAAAGGAACTAAAATTGGAAATGTTGGCCAGTACATCTGATCAACTGACCTTTAATGAAAAAAGTGACCTAGATCCTACAACGAAAAGATCTGCAAATGAATAGAGGATATGTTTTATAGGTGTTACAGATTAAAATATTTACATAAGGGGTCCATCAAACCACACAAACAAGATTCTTCTGGAATAAAAGTACAATACCTTTAATAAAGCGTATAGAAAGCAGATGCATTTTAACTTTCATTCTACGAGAGCATAATGACACTATTTTCTATCTGAATAAGTATTTCAGTGCCTTCTAGCCTCTAACTTAAAAAAAATACTGAATTTGTTCTGCTCACCATTCCTCCCCAAAGTGCACACTGATGGCAGATACACTTCTTAGAAGTCCAGCAAAATACACTAAGTTTTTCATGGTGATTTTCACATCTATACATTATGAAAAGAAAATGAAGTTATAAATTAAATTGGAACATAATCACCTCCACAAATTCTTAAGCTTGGGCAAACAGGTCAGTTTTAAATGATTATATCTCAAGAAACACAGTATAAAATGTACTCCATGGCTTCTGAAAAGGAAGCTAAAGAAGTTTATGCGGACAATTTTTTGTAAAGTACTGTTTTCATTGATCTGGACTTTATAATCACATGCGAAATACAGATTTGCTTCTTAAAAACATAACACATATTGCATCATTTCCACACAGCACTACAGATGATATATTCTATTGTACTACTACATTTTGGGCATGTGCTTAATAATCATATTGATTATGCATCTATACCTACATGAGCATGCACAAGTACTTTTCCTACATGTGGTCAACGATAACAATAATCAAGACACATGATTAACTGCACGATTTAATACTAGACCCTCATGGAAAATGAACAACTCAATTTTAAATGTTCTTTTAAACTGGATATTCACATGAAAAACAATAAAGTTAGACTCTGTTATGGATTAACTATGTCCCCCCTCAAATTCATAGGTTAAAGCCTTAACCCCCAGTGTGAATGTATTTGCAGACAGAGCCTTTAAGGAGGTAATTAAGGTTAAGTAAGGATCACAAGGGCAGGACCCAAATCCAACAGGACTGGTGTCCTCTATAAAGAGGAGGAGACACCAGGCATGCACGTGCACATAGCAAAGATCATGTGAGGACAGAGCTAGGTGGTGGCCATCTATAAGTCAAGGAGAAAGGGAGGCCTCACTAGAAACCAACACTGCTAGCATTTAATCTTGGACTTAACACCTATCAGAACTGTGAGAAAATAAATTTCTATTGTTTAAGCTACTCAGTTAGCAGTATTGTTATGAAAGACCTAGCAGACTAATACAGACCCTCACTTTATACCATATACACAAATAAACTACAGGCCGGGTGCAGCGGTGGCTCATGCCCGCAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGAACACTTGAAGCCAGGAGTTTGAGACTGGCCTGGCCAATATAGTGAAACTCCTTCTCTACTAGAAATACAAAAAATTAGCTGGGCGTGGTGGTGCACTCCTACAACCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGATAATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAGACTCTGCCTCAAAAAAAAAAGAAAAGAATGAAGGTTTAACATCCAGAATATATAAATAACACCTGTAACTCAACAAATAAACTTTAAAAACTCTAATTTAAAAATGAGCAAAAGATCTCCAGTAAGCATATGAAAAGATGCTCATTACTACTAATCACTAGAGAAATGTGAATCCTAACCTCATACCATATTAGGATGGTTGCTATCAAAAAAACAAAAAAGAGCAAGTGTTGGCCAGGATGTGGAGAAACTGGAACCCTTGTGCACTACTGGTGGGACTGTAAAATGGTACAGTCACTATGGAAAACAGTATGGAGATTCCTCAAAAACTTAAATTAAAAATAGAATTACCACATGATCTAGCAATTCTACTTCTGATTACATAACCAAAAGAACTGAAAGCAGAGTCTCAAAGACATGAACATCCATAGTCATAGCAGCATTATTCACTACAGCCAAAAGGTGGAAGCGACACCAATTTTCACTGAGAGATGAATGGACAAAAAAAATGTGACATATACATACAATATAATATTATTAACCCTTAAAAAGGTGGGAAATTCTGACACATGGATGAACCTTGAGGACATTATGCTAAGTAAAATAAACCAGTTACAAAAAGAGAGGTACTGTATGGTTCCACTTATATGCAGTATCTAGAGTACTCAAACAGATAGAAACAGAAAGTACAATGGTGGCTGCCAGGGGCTGGTGCGAAGAAGGAATGGGGAGTTGTTTAATGGGTACAGTTTCAGATTTGCAAGTTTAAAAAGTTC
Task1_train_25229
A variant on Chromosome 17 in gene TRIM37 (tripartite motif containing 37) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not specified
TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCCCTCTCCCATCTTGGTTTGTCTTAATCCTACTCATCCTTTGCACTTAGCTCAGATTTACAGGATCAGCTGCTATAGTTATGCATCCTCATCAGCTCTCTGTATTTATTCCTATAATTTATCAAGCCAATTGAGTATGTAATTGTTTGATATGTTCATCACCAAATCCCTAGTCTTTACCACAGCTGAATGAATTAGAAAGACACTTGAAGAAAAAGCCCAGGATACAAAATTAACAAAAGCAATGAACCCATTTTCCATCCCACAGAGTTACTACAGAGACAGAAGACTGATACAAGTTAGCCTCACAAATCCAGTTGCATTCAGCTCAAAGAACAATTTTTATAGCTAACTACCTAAAAATAATTTTGATTTGTAACCAGAATTATTAAATTTTAATATAAGAAACCTCCTATAAGTTCTTACTAGAATTGTCTTATTTAGCCAAAGTATCCCATTATTGTCTCCAAAAAAGATGTAGATTTTTACATGTTCACTTTAAGTATAGAAAAAAACATTTCTACTGTCTCTTACAAAACCTATGTATTTAAAGTATTAAATGTGAGAACTTAATTTTTTCTAGTTAGCACATTAATATTCAAATTCTAGCAGAAAGCTCTGAATTGAGCTCTACTCAACCAATCTGGCCTGCCACTCTCTCCGTAAAACATACTGACTGATGCCCACAGAATGATCAATTCTTATAGCAACTCTAGATACCTACCCACTTCCATTTCACCCATAACTTATTTTTCCTAAGAATCTATTGTGTTTATTCTCAACCTATTTATGCCAATTGTACTTATTATTGTAAGGAGATCATTTAATTAAGTATTCAGAGGCTGGGCGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGGCACATGCCTGTAATCCTAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCTCAAAAAAAAAAAAAAAGTATTCAGTAAACAACAGAACACGACTTTAAAATAAAAAAGCTGCTTCTAAGAAAGCTAACTTCAATGCTTCAGGCTCAATAATGGTAGACTGTCTTTAAAAACTGCTCTTGAATTCAATTGGAAAAAATAATCTAAAAAATAAAAAATAATTATAAGATCTAGATAGGCGTACTCATGTTGTTTCACAAGTGTCTAAGTTCGTGCTCCATTTTAAAGGAACTAAAATTGGAAATGTTGGCCAGTACATCTGATCAACTGACCTTTAATGAAAAAAGTGACCTAGATCCTACAACGAAAAGATCTGCAAATGAATAGAGGATATGTTTTATAGGTGTTACAGATTAAAATATTTACATAAGGGGTCCATCAAACCACACAAACAAGATTCTTCTGGAATAAAAGTACAATACCTTTAATAAAGCGTATAGAAAGCAGATGCATTTTAACTTTCATTCTACGAGAGCATAATGACACTATTTTCTATCTGAATAAGTATTTCAGTGCCTTCTAGCCTCTAACTTAAAAAAAATACTGAATTTGTTCTGCTCACCATTCCTCCCCAAAGTGCACACTGATGGCAGATACACTTCTTACAAGTCCAGCAAAATACACTAAGTTTTTCATGGTGATTTTCACATCTATACATTATGAAAAGAAAATGAAGTTATAAATTAAATTGGAACATAATCACCTCCACAAATTCTTAAGCTTGGGCAAACAGGTCAGTTTTAAATGATTATATCTCAAGAAACACAGTATAAAATGTACTCCATGGCTTCTGAAAAGGAAGCTAAAGAAGTTTATGCGGACAATTTTTTGTAAAGTACTGTTTTCATTGATCTGGACTTTATAATCACATGCGAAATACAGATTTGCTTCTTAAAAACATAACACATATTGCATCATTTCCACACAGCACTACAGATGATATATTCTATTGTACTACTACATTTTGGGCATGTGCTTAATAATCATATTGATTATGCATCTATACCTACATGAGCATGCACAAGTACTTTTCCTACATGTGGTCAACGATAACAATAATCAAGACACATGATTAACTGCACGATTTAATACTAGACCCTCATGGAAAATGAACAACTCAATTTTAAATGTTCTTTTAAACTGGATATTCACATGAAAAACAATAAAGTTAGACTCTGTTATGGATTAACTATGTCCCCCCTCAAATTCATAGGTTAAAGCCTTAACCCCCAGTGTGAATGTATTTGCAGACAGAGCCTTTAAGGAGGTAATTAAGGTTAAGTAAGGATCACAAGGGCAGGACCCAAATCCAACAGGACTGGTGTCCTCTATAAAGAGGAGGAGACACCAGGCATGCACGTGCACATAGCAAAGATCATGTGAGGACAGAGCTAGGTGGTGGCCATCTATAAGTCAAGGAGAAAGGGAGGCCTCACTAGAAACCAACACTGCTAGCATTTAATCTTGGACTTAACACCTATCAGAACTGTGAGAAAATAAATTTCTATTGTTTAAGCTACTCAGTTAGCAGTATTGTTATGAAAGACCTAGCAGACTAATACAGACCCTCACTTTATACCATATACACAAATAAACTACAGGCCGGGTGCAGCGGTGGCTCATGCCCGCAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGAACACTTGAAGCCAGGAGTTTGAGACTGGCCTGGCCAATATAGTGAAACTCCTTCTCTACTAGAAATACAAAAAATTAGCTGGGCGTGGTGGTGCACTCCTACAACCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGATAATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAGACTCTGCCTCAAAAAAAAAAGAAAAGAATGAAGGTTTAACATCCAGAATATATAAATAACACCTGTAACTCAACAAATAAACTTTAAAAACTCTAATTTAAAAATGAGCAAAAGATCTCCAGTAAGCATATGAAAAGATGCTCATTACTACTAATCACTAGAGAAATGTGAATCCTAACCTCATACCATATTAGGATGGTTGCTATCAAAAAAACAAAAAAGAGCAAGTGTTGGCCAGGATGTGGAGAAACTGGAACCCTTGTGCACTACTGGTGGGACTGTAAAATGGTACAGTCACTATGGAAAACAGTATGGAGATTCCTCAAAAACTTAAATTAAAAATAGAATTACCACATGATCTAGCAATTCTACTTCTGATTACATAACCAAAAGAACTGAAAGCAGAGTCTCAAAGACATGAACATCCATAGTCATAGCAGCATTATTCACTACAGCCAAAAGGTGGAAGCGACACCAATTTTCACTGAGAGATGAATGGACAAAAAAAATGTGACATATACATACAATATAATATTATTAACCCTTAAAAAGGTGGGAAATTCTGACACATGGATGAACCTTGAGGACATTATGCTAAGTAAAATAAACCAGTTACAAAAAGAGAGGTACTGTATGGTTCCACTTATATGCAGTATCTAGAGTACTCAAACAGATAGAAACAGAAAGTACAATGGTGGCTGCCAGGGGCTGGTGCGAAGAAGGAATGGGGAGTTGTTTAATGGGTACAGTTTCAGATTTGCAAGTTTAAAAAGTTC
TGGTGGCTCACGCCTGTAATCCTAGCACTGTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAAGCCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCACCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAATAATAATAATAATTCTCCATCTTCCCTCTCCCATCTTGGTTTGTCTTAATCCTACTCATCCTTTGCACTTAGCTCAGATTTACAGGATCAGCTGCTATAGTTATGCATCCTCATCAGCTCTCTGTATTTATTCCTATAATTTATCAAGCCAATTGAGTATGTAATTGTTTGATATGTTCATCACCAAATCCCTAGTCTTTACCACAGCTGAATGAATTAGAAAGACACTTGAAGAAAAAGCCCAGGATACAAAATTAACAAAAGCAATGAACCCATTTTCCATCCCACAGAGTTACTACAGAGACAGAAGACTGATACAAGTTAGCCTCACAAATCCAGTTGCATTCAGCTCAAAGAACAATTTTTATAGCTAACTACCTAAAAATAATTTTGATTTGTAACCAGAATTATTAAATTTTAATATAAGAAACCTCCTATAAGTTCTTACTAGAATTGTCTTATTTAGCCAAAGTATCCCATTATTGTCTCCAAAAAAGATGTAGATTTTTACATGTTCACTTTAAGTATAGAAAAAAACATTTCTACTGTCTCTTACAAAACCTATGTATTTAAAGTATTAAATGTGAGAACTTAATTTTTTCTAGTTAGCACATTAATATTCAAATTCTAGCAGAAAGCTCTGAATTGAGCTCTACTCAACCAATCTGGCCTGCCACTCTCTCCGTAAAACATACTGACTGATGCCCACAGAATGATCAATTCTTATAGCAACTCTAGATACCTACCCACTTCCATTTCACCCATAACTTATTTTTCCTAAGAATCTATTGTGTTTATTCTCAACCTATTTATGCCAATTGTACTTATTATTGTAAGGAGATCATTTAATTAAGTATTCAGAGGCTGGGCGCGGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGGCACATGCCTGTAATCCTAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCTCAAAAAAAAAAAAAAAGTATTCAGTAAACAACAGAACACGACTTTAAAATAAAAAAGCTGCTTCTAAGAAAGCTAACTTCAATGCTTCAGGCTCAATAATGGTAGACTGTCTTTAAAAACTGCTCTTGAATTCAATTGGAAAAAATAATCTAAAAAATAAAAAATAATTATAAGATCTAGATAGGCGTACTCATGTTGTTTCACAAGTGTCTAAGTTCGTGCTCCATTTTAAAGGAACTAAAATTGGAAATGTTGGCCAGTACATCTGATCAACTGACCTTTAATGAAAAAAGTGACCTAGATCCTACAACGAAAAGATCTGCAAATGAATAGAGGATATGTTTTATAGGTGTTACAGATTAAAATATTTACATAAGGGGTCCATCAAACCACACAAACAAGATTCTTCTGGAATAAAAGTACAATACCTTTAATAAAGCGTATAGAAAGCAGATGCATTTTAACTTTCATTCTACGAGAGCATAATGACACTATTTTCTATCTGAATAAGTATTTCAGTGCCTTCTAGCCTCTAACTTAAAAAAAATACTGAATTTGTTCTGCTCACCATTCCTCCCCAAAGTGCACACTGATGGCAGATACACTTCTTAGAAGTCCAGCAAAATACACTAAGTTTTTCATGGTGATTTTCACATCTATACATTATGAAAAGAAAATGAAGTTATAAATTAAATTGGAACATAATCACCTCCACAAATTCTTAAGCTTGGGCAAACAGGTCAGTTTTAAATGATTATATCTCAAGAAACACAGTATAAAATGTACTCCATGGCTTCTGAAAAGGAAGCTAAAGAAGTTTATGCGGACAATTTTTTGTAAAGTACTGTTTTCATTGATCTGGACTTTATAATCACATGCGAAATACAGATTTGCTTCTTAAAAACATAACACATATTGCATCATTTCCACACAGCACTACAGATGATATATTCTATTGTACTACTACATTTTGGGCATGTGCTTAATAATCATATTGATTATGCATCTATACCTACATGAGCATGCACAAGTACTTTTCCTACATGTGGTCAACGATAACAATAATCAAGACACATGATTAACTGCACGATTTAATACTAGACCCTCATGGAAAATGAACAACTCAATTTTAAATGTTCTTTTAAACTGGATATTCACATGAAAAACAATAAAGTTAGACTCTGTTATGGATTAACTATGTCCCCCCTCAAATTCATAGGTTAAAGCCTTAACCCCCAGTGTGAATGTATTTGCAGACAGAGCCTTTAAGGAGGTAATTAAGGTTAAGTAAGGATCACAAGGGCAGGACCCAAATCCAACAGGACTGGTGTCCTCTATAAAGAGGAGGAGACACCAGGCATGCACGTGCACATAGCAAAGATCATGTGAGGACAGAGCTAGGTGGTGGCCATCTATAAGTCAAGGAGAAAGGGAGGCCTCACTAGAAACCAACACTGCTAGCATTTAATCTTGGACTTAACACCTATCAGAACTGTGAGAAAATAAATTTCTATTGTTTAAGCTACTCAGTTAGCAGTATTGTTATGAAAGACCTAGCAGACTAATACAGACCCTCACTTTATACCATATACACAAATAAACTACAGGCCGGGTGCAGCGGTGGCTCATGCCCGCAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGAACACTTGAAGCCAGGAGTTTGAGACTGGCCTGGCCAATATAGTGAAACTCCTTCTCTACTAGAAATACAAAAAATTAGCTGGGCGTGGTGGTGCACTCCTACAACCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGATAATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAGACTCTGCCTCAAAAAAAAAAGAAAAGAATGAAGGTTTAACATCCAGAATATATAAATAACACCTGTAACTCAACAAATAAACTTTAAAAACTCTAATTTAAAAATGAGCAAAAGATCTCCAGTAAGCATATGAAAAGATGCTCATTACTACTAATCACTAGAGAAATGTGAATCCTAACCTCATACCATATTAGGATGGTTGCTATCAAAAAAACAAAAAAGAGCAAGTGTTGGCCAGGATGTGGAGAAACTGGAACCCTTGTGCACTACTGGTGGGACTGTAAAATGGTACAGTCACTATGGAAAACAGTATGGAGATTCCTCAAAAACTTAAATTAAAAATAGAATTACCACATGATCTAGCAATTCTACTTCTGATTACATAACCAAAAGAACTGAAAGCAGAGTCTCAAAGACATGAACATCCATAGTCATAGCAGCATTATTCACTACAGCCAAAAGGTGGAAGCGACACCAATTTTCACTGAGAGATGAATGGACAAAAAAAATGTGACATATACATACAATATAATATTATTAACCCTTAAAAAGGTGGGAAATTCTGACACATGGATGAACCTTGAGGACATTATGCTAAGTAAAATAAACCAGTTACAAAAAGAGAGGTACTGTATGGTTCCACTTATATGCAGTATCTAGAGTACTCAAACAGATAGAAACAGAAAGTACAATGGTGGCTGCCAGGGGCTGGTGCGAAGAAGGAATGGGGAGTTGTTTAATGGGTACAGTTTCAGATTTGCAAGTTTAAAAAGTTC
Task1_train_25230
Here is a mutation in SMG8 (SMG8 nonsense mediated mRNA decay factor) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Alzahrani-Kuwahara syndrome
GTAATATATATTATTATGTATATATATAATATATATATTATATCATAATCCCTTCCCTCACTAAGTAATCACTGACCTACTTGGTACAATAAATATTTCCTTGCTTTTAGTAAGAACACACCCCTAAATGCAATGGTTTATTTTGCTTGCTTTTGAACTCTATAGAAATAAAATCAGGCCTGGCGCAGTGGCTCTCGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGATCAGGAGATTGAGACTATCCTGGCCAACATGGTGAAATCCTGTCTCTATTAAAAATACAAAAGTTAGCTGGGTGTGGTCTCACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGCACCGGGGAGCCGGAGGTTGCAGTGAGTCGAGATCGCGCCACTGAACTCTAGCCTGGCCACAGAGCAAGACTGCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAATTATAGGGTATATACACTTTTGTTTCTGATTTCTTTCAATCAACATTTATTTTAAAGATTCAGTCATGTTATTGTATAGTGCTATAGATAATTTTTTTAGATTCAAAGATTTTTATTTTTTACAAAACCCCAGAATAATAAACGTTATAATTATACATTTAAATCTGGTTGTAAGTTTTATCCTGGCAGCTATTTGTCAATATGCCTTCTAGTTAGAGAGGTTCTGCAAGTTATAATTTACATACAAAGATATTTCGCAATTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGCGGGGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGAACTACAGGTATGCGCCACCACGCCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGTTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGTTCACTGCAACTTCCGCCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCAGTAGTCCCAGTTTTGTTTTGTTTTTTTGTTTTTTGTTTTTGATATCTCAATTCCTACAGTTGAGGAAACAAACTAGGAGAGGAGAAGAGGAGGCGGAACTCAAGTGACGGGAAAGCAGGAACTGAAGAAGCGGAGGAAGGATTTCAAAATTGGACGAAAGCCGGTCGGTTTTACTAACGGACCGGAAGGACTCTAGAGAACGCTCTGCACTATGGCTGGTCCCGTGAGCTTGCGAGACCTTCTAATGGGAGCATCAGCCTGGATGGGCTCTGAAAGTCCCGGAGGGTCCCCTACTGAGGGCGGAGGGAGCGCGGCTGGCGGACCGGAGCCTCCATGGCGGGAGGATGAGATCTGCGTTGTGGGAATCTTCGGCAAGACGGCTCTACGCCTGAATTCCGAGAAGTTCTCTCTTGTGAATACGGTGTGCGACCGACAGGTCTTTCCTCTCTTTCGCCACCAAGATCCTGGGGATCCAGGACCTGGAATCAGAACTGAGGCTGGCGCCGTGGGTGAGGCCGGTGGAGCCGAGGACCCTGGGGCTGCAGCCGGGGGTTCAGTTCGGGGAAGTGGAGCTGTCGCGGAAGGTAACCGAACTGAGGCAGGCTCCCAGGACTACAGCCTTCTGCAGGCCTACTACAGTCAGGAAAGCAAAGTTCTGTATCTTCTCCTCACCTCCATCTGTGACAATTCACAGCTTCTCCGGGCTTGTCGGGCTCTTCAGAGCGGGGAAGCTGGAGGTGGACTCTCTTTACCTCATGCAGAAGCACACGAGTTCTGGAAGCATCAAGAGAAGCTGCAGTGCCTCAGTCTCCTTTACCTATTCTCTGTCTGTCATATCTTGCTTCTGGTCCATCCCACTTGTTCCTTTGATATCACTTATGATCGAGTATTCAGAGCCCTGGATGGGCTGAGACAGAAGGTCCTGCCGCTCCTTAAAACAGCCATTAAGGATTGTCCAGTTGGCAAAGACTGGAAGCTAAACTGCCGACCTTGCCCACCTAGACTCCTTTTCCTCTTTCAACTCAATGGAGCCCTCAAGGTAGAACCTCCTCGGAACCAAGACCCAGCTCATCCAGACAAGCCCAAGAAACATTCTCCCAAAAGGAGGCTGCAGCATGCCCTGGAGGACCAGATCTATAGAATCTTCCGGAAGAGTCGTGTCTTGACTAATCAGAGCATCAACTGCCTCTTTACTGTGCCTGCCAACCAAGCTTTCGTGTACATAGTACCGGGAAGCCAGGAGGAGGACCCAGTAGGTATGTTGCTGGACCAACTTAGGAGTCATTGTACTGTGAAGGACCCGGAATCTTTGCTGGTGCCTGCACCCCTTTCTGGGCCTAGGCGATACCAGGTGATGAGGCAGCACAGCCGACAACAACTTTCCTTTCACATTGACAGCAGCAGTTCCAGTTCTTCAGGCCAGCTAGTGGATTTCACTCTTCGGGAATTCCTATGGCAGCATGTGGAGCTAGTTCTAAGCAAGAAAGGTTTCGATGACAGTGTGGGCAGGAACCCACAGCCTTCCCATTTTGAACTTCCTACTTATCAGAAGTGGATCTCAGCAGCTTCAAAACTGTATGAGGTGGCTATTGATGGGAAAGAAGAGGACTTGGGGTCACCCACTGGAGAGCTAACATCTAAGATTTTAAGCAGTATTAAAGTCTTGGAAGGATTTTTGGATATTGACACAAAATTCTCAGAAAACCGATGCCAAAAAGCTTTACCCATGGCCCACAGTGCCTACCAGTCAAATTTGCCTCATAATTACACAATGACTGTCCATAAGAATCAGCTTGCCCAGGCTCTTCGAGTGTACAGTCAACATGCTAGAGGTCCAGCATTTCACAAATACGCCATGCAGTTACATGAGGACTGCTACAAATTTTGGAGCAATGGCCATCAGCTCTGTGAGGAGAGGAGTTTAACTGATCAACACTGTGTGCACAAATTTCACTCATTACCTAAATCAGGTAGCTAAAATTTGTTCAGCATTTTGAAATAAAAACTTTGAGCTGTGTTTTCATTCTTGTTTTAAGATAGTCTGTTCACTATGTATTGATATTTTAGAAAGAGCCCTACAGAAATTTAGGTGCATCAGCTATACGTTTTCTCTCCTGCTGTAAAAGGAAAATATCAGCTATGACTACTTTCTTATTTTTTTTCATTTAAAGGATACGTCCTAGTGAATTGGTAAGTGAGAATTATTAAGTAGTATAAAATTTCAGACATCTCATATTAACACTTTGCCTTGGAGGATTTGTAGAACTAAAATGAATGTTATGTTAGATGATGGTACATGATAATGGTAGCAGGAGGAAAAATTCACTTAAAAACTCTAAACTTTACATTTATAATATAAAGTATTTTATATACTTTCACTTGCTTCTTCTGTTATGTGTATTTAGGTAAGGTTTTTGTTTGTGGGGTTAGATGTTGTAGAATGCAAAGTAAATTCGCACATTGTGTTTATGAAATTAATAGTGGCTGTTATATTTTCCAGGAGAAAAACCAGAGGCTGATAGAAATCCGCCTGTGCTATATCACAATAGCCGAGCTCGATCTACTGGTGCTTGCAACTGTGGAAGGAAACAAGCACCTCGAGATGATCCCTTTGATATCAAAGCAGCCAATTATGACTTCTATCAGGTAGACTCTGAATTTTTTCTTCTTCCTCTTCTGTCTTTTTTTGTTAAATATCATCTGAGTAAAAACATATTTTCAATAGCAGAGTAAGTAGAAAAGCAAATGCAACTGCAGTATAATATATAAACAGGAGCAAATTCTTTATGTGTACATATTTACTTACACATCAATTATTGATCTTGTTAGAATGAAGAATATTATTTAAAATGAAAAACTTACTGGATTTTTTTTCTTACCC
GTAATATATATTATTATGTATATATATAATATATATATTATATCATAATCCCTTCCCTCACTAAGTAATCACTGACCTACTTGGTACAATAAATATTTCCTTGCTTTTAGTAAGAACACACCCCTAAATGCAATGGTTTATTTTGCTTGCTTTTGAACTCTATAGAAATAAAATCAGGCCTGGCGCAGTGGCTCTCGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGATCAGGAGATTGAGACTATCCTGGCCAACATGGTGAAATCCTGTCTCTATTAAAAATACAAAAGTTAGCTGGGTGTGGTCTCACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGCACCGGGGAGCCGGAGGTTGCAGTGAGTCGAGATCGCGCCACTGAACTCTAGCCTGGCCACAGAGCAAGACTGCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAATTATAGGGTATATACACTTTTGTTTCTGATTTCTTTCAATCAACATTTATTTTAAAGATTCAGTCATGTTATTGTATAGTGCTATAGATAATTTTTTTAGATTCAAAGATTTTTATTTTTTACAAAACCCCAGAATAATAAACGTTATAATTATACATTTAAATCTGGTTGTAAGTTTTATCCTGGCAGCTATTTGTCAATATGCCTTCTAGTTAGAGAGGTTCTGCAAGTTATAATTTACATACAAAGATATTTCGCAATTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGCGGGGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGAACTACAGGTATGCGCCACCACGCCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGTTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGTTCACTGCAACTTCCGCCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCAGTAGTCCCAGTTTTGTTTTGTTTTTTTGTTTTTTGTTTTTGATATCTCAATTCCTACAGTTGAGGAAACAAACTAGGAGAGGAGAAGAGGAGGCGGAACTCAAGTGACGGGAAAGCAGGAACTGAAGAAGCGGAGGAAGGATTTCAAAATTGGACGAAAGCCGGTCGGTTTTACTAACGGACCGGAAGGACTCTAGAGAACGCTCTGCACTATGGCTGGTCCCGTGAGCTTGCGAGACCTTCTAATGGGAGCATCAGCCTGGATGGGCTCTGAAAGTCCCGGAGGGTCCCCTACTGAGGGCGGAGGGAGCGCGGCTGGCGGACCGGAGCCTCCATGGCGGGAGGATGAGATCTGCGTTGTGGGAATCTTCGGCAAGACGGCTCTACGCCTGAATTCCGAGAAGTTCTCTCTTGTGAATACGGTGTGCGACCGACAGGTCTTTCCTCTCTTTCGCCACCAAGATCCTGGGGATCCAGGACCTGGAATCAGAACTGAGGCTGGCGCCGTGGGTGAGGCCGGTGGAGCCGAGGACCCTGGGGCTGCAGCCGGGGGTTCAGTTCGGGGAAGTGGAGCTGTCGCGGAAGGTAACCGAACTGAGGCAGGCTCCCAGGACTACAGCCTTCTGCAGGCCTACTACAGTCAGGAAAGCAAAGTTCTGTATCTTCTCCTCACCTCCATCTGTGACAATTCACAGCTTCTCCGGGCTTGTCGGGCTCTTCAGAGCGGGGAAGCTGGAGGTGGACTCTCTTTACCTCATGCAGAAGCACACGAGTTCTGGAAGCATCAAGAGAAGCTGCAGTGCCTCAGTCTCCTTTACCTATTCTCTGTCTGTCGTATCTTGCTTCTGGTCCATCCCACTTGTTCCTTTGATATCACTTATGATCGAGTATTCAGAGCCCTGGATGGGCTGAGACAGAAGGTCCTGCCGCTCCTTAAAACAGCCATTAAGGATTGTCCAGTTGGCAAAGACTGGAAGCTAAACTGCCGACCTTGCCCACCTAGACTCCTTTTCCTCTTTCAACTCAATGGAGCCCTCAAGGTAGAACCTCCTCGGAACCAAGACCCAGCTCATCCAGACAAGCCCAAGAAACATTCTCCCAAAAGGAGGCTGCAGCATGCCCTGGAGGACCAGATCTATAGAATCTTCCGGAAGAGTCGTGTCTTGACTAATCAGAGCATCAACTGCCTCTTTACTGTGCCTGCCAACCAAGCTTTCGTGTACATAGTACCGGGAAGCCAGGAGGAGGACCCAGTAGGTATGTTGCTGGACCAACTTAGGAGTCATTGTACTGTGAAGGACCCGGAATCTTTGCTGGTGCCTGCACCCCTTTCTGGGCCTAGGCGATACCAGGTGATGAGGCAGCACAGCCGACAACAACTTTCCTTTCACATTGACAGCAGCAGTTCCAGTTCTTCAGGCCAGCTAGTGGATTTCACTCTTCGGGAATTCCTATGGCAGCATGTGGAGCTAGTTCTAAGCAAGAAAGGTTTCGATGACAGTGTGGGCAGGAACCCACAGCCTTCCCATTTTGAACTTCCTACTTATCAGAAGTGGATCTCAGCAGCTTCAAAACTGTATGAGGTGGCTATTGATGGGAAAGAAGAGGACTTGGGGTCACCCACTGGAGAGCTAACATCTAAGATTTTAAGCAGTATTAAAGTCTTGGAAGGATTTTTGGATATTGACACAAAATTCTCAGAAAACCGATGCCAAAAAGCTTTACCCATGGCCCACAGTGCCTACCAGTCAAATTTGCCTCATAATTACACAATGACTGTCCATAAGAATCAGCTTGCCCAGGCTCTTCGAGTGTACAGTCAACATGCTAGAGGTCCAGCATTTCACAAATACGCCATGCAGTTACATGAGGACTGCTACAAATTTTGGAGCAATGGCCATCAGCTCTGTGAGGAGAGGAGTTTAACTGATCAACACTGTGTGCACAAATTTCACTCATTACCTAAATCAGGTAGCTAAAATTTGTTCAGCATTTTGAAATAAAAACTTTGAGCTGTGTTTTCATTCTTGTTTTAAGATAGTCTGTTCACTATGTATTGATATTTTAGAAAGAGCCCTACAGAAATTTAGGTGCATCAGCTATACGTTTTCTCTCCTGCTGTAAAAGGAAAATATCAGCTATGACTACTTTCTTATTTTTTTTCATTTAAAGGATACGTCCTAGTGAATTGGTAAGTGAGAATTATTAAGTAGTATAAAATTTCAGACATCTCATATTAACACTTTGCCTTGGAGGATTTGTAGAACTAAAATGAATGTTATGTTAGATGATGGTACATGATAATGGTAGCAGGAGGAAAAATTCACTTAAAAACTCTAAACTTTACATTTATAATATAAAGTATTTTATATACTTTCACTTGCTTCTTCTGTTATGTGTATTTAGGTAAGGTTTTTGTTTGTGGGGTTAGATGTTGTAGAATGCAAAGTAAATTCGCACATTGTGTTTATGAAATTAATAGTGGCTGTTATATTTTCCAGGAGAAAAACCAGAGGCTGATAGAAATCCGCCTGTGCTATATCACAATAGCCGAGCTCGATCTACTGGTGCTTGCAACTGTGGAAGGAAACAAGCACCTCGAGATGATCCCTTTGATATCAAAGCAGCCAATTATGACTTCTATCAGGTAGACTCTGAATTTTTTCTTCTTCCTCTTCTGTCTTTTTTTGTTAAATATCATCTGAGTAAAAACATATTTTCAATAGCAGAGTAAGTAGAAAAGCAAATGCAACTGCAGTATAATATATAAACAGGAGCAAATTCTTTATGTGTACATATTTACTTACACATCAATTATTGATCTTGTTAGAATGAAGAATATTATTTAAAATGAAAAACTTACTGGATTTTTTTTCTTACCC
Task1_train_25231
A variant has been detected on Chromosome 17 in CLTC (clathrin heavy chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Intellectual disability, autosomal dominant 56
ATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGGTAATGTGATTAAAATATATTTTGTAGAAGCTGATTGAAATGGAGAGTGGGGGCCAGCCATGGTGGTTGACTTGGGAGTCCAAGGTGGGAGTATTGCTTGAGGCCAAGAATTCAAGACCAGTCTGGGCAACATTGTGAGACCCTGTAACTACAAAAAATTTAAAAATCAGCTGCATGTGGTGGCACATGCCTGTCGCCCCAGCTACTCGGGTGGCTGAAGTGGAGGGATAGCTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCTATGATCGTGCCATTGGACTCCAACCTGGGCAACAGAGTGAGACTCTCAAAAAGAAAAAAAAAAAAGGAAAACTTACAGTTTGTAGAAATTAAAGCTTTGTCACTCTATATGGATAAACCTCAAATGCCTTGCAAAAAAAGCAAGTTGCAAAAGAATGGACAGTATGAAACCATCTGCATGTAGTTTTAATACATGCAAAACAAACATCTTATTTAGAGATGTATGTGTATTAAAAATATGAAAAATACATGGGGATGATAAAACAGGATAGTGGTTGCCACTGGGTGTGGGGAGAGGGAAGAGATGCATTTGTAAGTGTGAGTCAGAGTCCTTCATATTTATGCTATTGGTTTTCTAAAGTTCATAAAAATAAAGGTCTGTCAGGCTGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAATATAGCGAAACCCTGTCTCTACTAAAAATAACAAAAAATTAGCTAGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCAGGAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCTGCCTCAAAAAAATAAAATAAATAAATAAAATAAAATAAAGGTCTGTCGGTTCAGTTGTATTCTGCTGTTATGTAATATCTTGAAATATTTTGTAGTTGTTTTTATCAGAACTCAAAATAACTATGATCCCTAGAGGACAAAAATTTGTTCTTAAGTGTTTATATTGTCCAAATAAAATTCTCAGGTAAAGAAAGAGTTCATGCATAATTTTGTCTACATACTCTCCATAGTATCTTAAAACAATTTCTTTTAAATCTTTTTTTGTAGATTGTAGATGTCTTTATGGAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGAACCTTATGCATGCGCCTCAAGTATGTGTTTTAATGCTTTTTAGGCATGTTTCCAACATTGTTTTAGTAATTGTGCAGCGCCTCTCAGATTGTTATGCAAAGCTACTGAGGGGCCTACTCCTTATTAAAGAAAATGTAGCTATTATAATATTCTTTTGTACTTTAACAGTTCACTATTAAACCTTAATCTGTAATACGGATATTGAATTACTCATGTAAGTGGAGTGGACAATAAACTTGCCTTGTTTGTGGTTTTACAGGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGGCCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGGTATTTCAGTTTCTTACCTAATAGATGGTGTTAGTTGTGATTAATAGGTACACTGAAAATGTGTTTGTGGTACTAAATATTAATAATTTCATACCACCATGAGGTTCAACATTATTTCATTTATTCATTCATTCATTTATTTTGTCTTGTAGTGGTTAGTCAACTACTTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTAAATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTAATTAGGAGTTTTTGAGTTTTTAAAAAAAGTACTTAAGGTAGCCAAGAAGAGGTATGCTTATGATCAGGCTGTTGGAAATTTTGTTTTTCTAAAAATTTGGTTCTATGGGACATTTTAATTTTTTAAGTTTTATTCAATATATGTCAAGGCCCTTTTATGTTGGATTCTAAGGATATGCAGTGAACCAGACCATCTGTTTGGATATTTTATAGATGAATTAAAGGTAGAATTTTAAGAGAAAAATATGTAGTGGTGTTGAAATTGTATAAAATGAAAATACAGGTTGAGTGTCCCTAATCTGAAAATCCAAAATGCACCAAAGTCCAAAACTTCTTGAGCACCAACATAACGCTCAAAGGAAATGCTTGTTGGAGCATTTCAGAAATCGGATTTTCAGATTAGGGATGCTGATCAGGTAATTATAATGCGAATATTCCAAAGTTCAAAATCTGAAACACGTCTGGTCTCAAGTATTTTGGATAAGGGATACTCAGTCTGTACTAATGATCAGGTATAATAAAATTTTATGCTTATATGTCTGACTCTTATAATAGCAGGTGATTCTCACTAAGGGCATTTTGTGATTTGTTGCTATTTAGCAGGATTTCTTAACCTTAGTACTATAGACATTTAGGGCTGGATAATCATTGTAGAGGGGTGTTCCTGTACATGTAGAATATTTAGTAGAATATTCAGCAGCATTCCTGGTTTCTACCCACTAGATTCCAGTAGCGTCAGCTCCACCAGTTGTGACAACCAAAAATGTCTTCAGACATTGCCAGTGTCACCTGTGAGGAAAATCACCTCAGTTGAGAACCACTGCTATACAGGGTACTAACGTAATCACTGTTGGGTGTCTAACTTCTGGTCCCCAACTGCCTTTCTCTCCTCTCTGTACTAGTAGTACTCTATTGAGAAGGGGTAAGAGAGTCTAGTAGTTTTCTTAATTTTTTCTTAATTTTCCCAGTTTCAAAATGTTAACTGTGCACTAAATTTACACTGTTTAGTACAGTCACTAGCCACATATAGTAGCTATTTACATTGAAAGTTATTAAAGTGAAATAAAATTTAATATTTAGTTATTCAGTCACTCTAGCCACATTTCAAGTGCTTAATAGCCACATGTGTTTAGTGGCTATTATATTGGAAGGCAAAGATAAGATTTTCATCATTGCAGAAAGTTCTTCTGGACAATACTGCACTAAATTCTTCCCAAATTATTTTGTATGTTTCCTATAAATTGCATATTGAAAAACACCAGGTATTGGGGTCTTCATTTAAAATTTCCCATATAGGGGCACAATGGTGTATGCCTTTAATAATCCCAGTGCTTTGGGAGGCCAAGTGCTTGGGGCCACAAATTCAAGACCAGCCTGGCTAGCATAGCAAGACACCATCTCTACAAAAATTTTCTTAAAAATTAGCCTGGCATGGTGGCATGCATCTGTAGTTCTAGCTACTTAGGAGGTTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCTGCCTCAATAAAAAAGAAAAAAAGGAAACATTGGGTTGAATTGTCTATTCTTCAGGATTAAAGTGCAATCCATTTTACTGATCTGATTAATGGAATAGTTAGTATTTTTATCGCGCTTTTTAAGCAACCAACTTATATTTGGGAGTATTCAATATAACAGTTTTTTAATTACATAAATGTTTTTCAGTCATTCTCAAAAGTGTGCCTATGCTTAATTGTAATTACTTGTTTCTTTAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTTTAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTACGATCCTGAG
ATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAGGTAATGTGATTAAAATATATTTTGTAGAAGCTGATTGAAATGGAGAGTGGGGGCCAGCCATGGTGGTTGACTTGGGAGTCCAAGGTGGGAGTATTGCTTGAGGCCAAGAATTCAAGACCAGTCTGGGCAACATTGTGAGACCCTGTAACTACAAAAAATTTAAAAATCAGCTGCATGTGGTGGCACATGCCTGTCGCCCCAGCTACTCGGGTGGCTGAAGTGGAGGGATAGCTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCTATGATCGTGCCATTGGACTCCAACCTGGGCAACAGAGTGAGACTCTCAAAAAGAAAAAAAAAAAAGGAAAACTTACAGTTTGTAGAAATTAAAGCTTTGTCACTCTATATGGATAAACCTCAAATGCCTTGCAAAAAAAGCAAGTTGCAAAAGAATGGACAGTATGAAACCATCTGCATGTAGTTTTAATACATGCAAAACAAACATCTTATTTAGAGATGTATGTGTATTAAAAATATGAAAAATACATGGGGATGATAAAACAGGATAGTGGTTGCCACTGGGTGTGGGGAGAGGGAAGAGATGCATTTGTAAGTGTGAGTCAGAGTCCTTCATATTTATGCTATTGGTTTTCTAAAGTTCATAAAAATAAAGGTCTGTCAGGCTGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAATATAGCGAAACCCTGTCTCTACTAAAAATAACAAAAAATTAGCTAGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCAGGAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCTGCCTCAAAAAAATAAAATAAATAAATAAAATAAAATAAAGGTCTGTCGGTTCAGTTGTATTCTGCTGTTATGTAATATCTTGAAATATTTTGTAGTTGTTTTTATCAGAACTCAAAATAACTATGATCCCTAGAGGACAAAAATTTGTTCTTAAGTGTTTATATTGTCCAAATAAAATTCTCAGGTAAAGAAAGAGTTCATGCATAATTTTGTCTACATACTCTCCATAGTATCTTAAAACAATTTCTTTTAAATCTTTTTTTGTAGATTGTAGATGTCTTTATGGAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGAACCTTATGCATGCGCCTCAAGTATGTGTTTTAATGCTTTTTAGGCATGTTTCCAACATTGTTTTAGTAATTGTGCAGCGCCTCTCAGATTGTTATGCAAAGCTACTGAGGGGCCTACTCCTTATTAAAGAAAATGTAGCTATTATAATATTCTTTTGTACTTTAACAGTTCACTATTAAACCTTAATCTGTAATACGGATATTGAATTACTCATGTAAGTGGAGTGGACAATAAACTTGCCTTGTTTGTGGTTTTACAGGTTGCAGATGCTATTCTAGGCAATCAGATGTTCACACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGGCCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAGGTATTTCAGTTTCTTACCTAATAGATGGTGTTAGTTGTGATTAATAGGTACACTGAAAATGTGTTTGTGGTACTAAATATTAATAATTTCATACCACCATGAGGTTCAACATTATTTCATTTATTCATTCATTCATTTATTTTGTCTTGTAGTGGTTAGTCAACTACTTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACGTCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTAAATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAGGTAATTAGGAGTTTTTGAGTTTTTAAAAAAAGTACTTAAGGTAGCCAAGAAGAGGTATGCTTATGATCAGGCTGTTGGAAATTTTGTTTTTCTAAAAATTTGGTTCTATGGGACATTTTAATTTTTTAAGTTTTATTCAATATATGTCAAGGCCCTTTTATGTTGGATTCTAAGGATATGCAGTGAACCAGACCATCTGTTTGGATATTTTATAGATGAATTAAAGGTAGAATTTTAAGAGAAAAATATGTAGTGGTGTTGAAATTGTATAAAATGAAAATACAGGTTGAGTGTCCCTAATCTGAAAATCCAAAATGCACCAAAGTCCAAAACTTCTTGAGCACCAACATAACGCTCAAAGGAAATGCTTGTTGGAGCATTTCAGAAATCGGATTTTCAGATTAGGGATGCTGATCAGGTAATTATAATGCGAATATTCCAAAGTTCAAAATCTGAAACACGTCTGGTCTCAAGTATTTTGGATAAGGGATACTCAGTCTGTACTAATGATCAGGTATAATAAAATTTTATGCTTATATGTCTGACTCTTATAATAGCAGGTGATTCTCACTAAGGGCATTTTGTGATTTGTTGCTATTTAGCAGGATTTCTTAACCTTAGTACTATAGACATTTAGGGCTGGATAATCATTGTAGAGGGGTGTTCCTGTACATGTAGAATATTTAGTAGAATATTCAGCAGCATTCCTGGTTTCTACCCACTAGATTCCAGTAGCGTCAGCTCCACCAGTTGTGACAACCAAAAATGTCTTCAGACATTGCCAGTGTCACCTGTGAGGAAAATCACCTCAGTTGAGAACCACTGCTATACAGGGTACTAACGTAATCACTGTTGGGTGTCTAACTTCTGGTCCCCAACTGCCTTTCTCTCCTCTCTGTACTAGTAGTACTCTATTGAGAAGGGGTAAGAGAGTCTAGTAGTTTTCTTAATTTTTTCTTAATTTTCCCAGTTTCAAAATGTTAACTGTGCACTAAATTTACACTGTTTAGTACAGTCACTAGCCACATATAGTAGCTATTTACATTGAAAGTTATTAAAGTGAAATAAAATTTAATATTTAGTTATTCAGTCACTCTAGCCACATTTCAAGTGCTTAATAGCCACATGTGTTTAGTGGCTATTATATTGGAAGGCAAAGATAAGATTTTCATCATTGCAGAAAGTTCTTCTGGACAATACTGCACTAAATTCTTCCCAAATTATTTTGTATGTTTCCTATAAATTGCATATTGAAAAACACCAGGTATTGGGGTCTTCATTTAAAATTTCCCATATAGGGGCACAATGGTGTATGCCTTTAATAATCCCAGTGCTTTGGGAGGCCAAGTGCTTGGGGCCACAAATTCAAGACCAGCCTGGCTAGCATAGCAAGACACCATCTCTACAAAAATTTTCTTAAAAATTAGCCTGGCATGGTGGCATGCATCTGTAGTTCTAGCTACTTAGGAGGTTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCTGCCTCAATAAAAAAGAAAAAAAGGAAACATTGGGTTGAATTGTCTATTCTTCAGGATTAAAGTGCAATCCATTTTACTGATCTGATTAATGGAATAGTTAGTATTTTTATCGCGCTTTTTAAGCAACCAACTTATATTTGGGAGTATTCAATATAACAGTTTTTTAATTACATAAATGTTTTTCAGTCATTCTCAAAAGTGTGCCTATGCTTAATTGTAATTACTTGTTTCTTTAAGGTCTCTTTTATTTTCTGGGATCCATTGTTAACTTTAGCCAGGACCCAGATGTGCACTTTAAATATATTCAGGCAGCTTGCAAGACTGGGCAAATCAAAGAAGTAGAAAGAATCTGTAGAGAAAGCAACTGCTACGATCCTGAG
Task1_train_25232
A variant has been detected on Chromosome 17 in CLTC (clathrin heavy chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Intellectual disability, autosomal dominant 56
TAGGAAATACCCTCTAAAATGCTATAAAAAGTCCTTTACTTTTTACCTTGAAATTAATCTATCATATCTTCTTTAGGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAATTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTAACATTGGCAAATGTGTTTATGGCTGTCAGTAAAAATTATACATTTTTAACTATGAATACAATCCTTTCCCTCATCATGTACTCAAATGGATCATATATAACTATGAGAGAAAGCAATACAAAGTAGAAGAAAATTAAAATTTATATATATTCAATTTACATTCATTTGTATATAATGAATGTAAATTGATTATATACATTATATACAAATGAATGTACATTTATATAAGTATAAATATGTATATAACATACATTAAGAAAAATAAGCCATGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACGTAGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGCATGTAATCCCAGCTACTCGGCAGGAAAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTAAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAGACTGTCTCAAAAAAACAAAAAGAAAAAAGAAAAAGAAAATACATCCCAAAAGACCTGACTTAATTATATAAAACTCTCTTGGTTCATCATAGTTTAAAAGGAAAATAACAAACTAAACATTAAAGATTGCTATTATTAACACTTAAGTGGCTAAATTGATTGGAAACTTCAAGATAATAAGTCAGAAAAATATAAGGATAAGAGAAAATACAAAAGACCAAGTGCATCAGTGTTATATCTTACTAATAAGAAGTATAGAACTGCAAATGAGATGGGGTTTTATACCTAAATAAAATAGACAACATATTTTAAAAGTTCTAAAAATAGAAGAGTTGTTATAATGAGTCTTAAATTCTCCTGAGATAAGTATAAATAAAATATTTTGGAAACGAATAGGTTGAAGGCTATTAATATTTCATTCCTTTCCTAGGAAGCACTTCTAAGCAACATTCCCAAGTAGTTACAAAGCTTCCTAGGGGAAGGTTGTGGGGGTGGGGGCGATGGTTGGAAATCATTGCAGCATCTAGAAAACCAAGCAAATAGCCAAAACCAGACGAATTACCGATATTTTAATTCCACATCTGTGTAGCTGAATTTTGAATTATGTGTAGCCATTAAAGTGATAATGATGATTGCTAGCCTGGATAATGTTTTAATCAGGGAAAAGATAGAAATTATATAATTAGAGTAATTTTTCAACACAATTATACATATTGTATAGATTTGTGTAGAAAGACCTCTCTATGTAAATTTAAAGGTCTTTTTCCTACTTCATTCTTTTCTGCCTATTTCAAGTTTTCTAATGAGAGGCCAACTTACGCTTTTTTAAAACCAACTTGATTCTCAGTACTTATGTCCCATATATCCTCTGTAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAGTGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACACAGGTATGCTTTCAGAGGGATCCATTGGCTATTTATAGTCAGTCTTTAATAAATTATGGCCCATCAGTTTTGGGAAGGAACAAAAAGATCAGAGAAAGTTGCCTGAATTCTCACTCTTCTAATATCCTCCCCCCTACCCTACCTCTTGAGACAAAAACCTCTCCGTTAGTCACAGTGGTTATTTTTTATGTCGGATAAACTTAAAATATTGCATTTAAAATATTCTTTTTTTTCTTAAAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCTGGATAATTATGATGCCCCAGATATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTAAATCTTCAGATTACCTAAGTTGAATTACTAAACACTGTGCTATGAGGGTGGGCCTAATTGGTTGCTACGGCAATAGAGCAGCAATAAAATACTAACAGCTTAAATGTAATTGCTTTGGGTAGGATTGATTTTACTCTAACCCTAATTTCAAACTTGGATACTTAGGTCTTAATTGAGCATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGTGAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGTATGACTTCTTACCTTATGTATTGAAACCTCATAAAATGATTAAGCTAAGCATTAAGATATCTGTCTATTCTGAATTTTAGAAGAGTTGGATACTGCATGGTTTCTTTTAGTGCTCCATCTTAGTCCAGATAAAAAGAGGCTGTATTTTGTGAATTTGTAAGTTCACAAAACTTACAAGTGGGGAAGATGAATCTTCTGTTTTTGAAGTCTCATAAAATCCTGATAGTGCTCTAATCTTAAAACTTTAAGGAAAAAGAATTCATCTATTCATTTGGTCCGTGATAATACAGAAGTGAAATATTGCACGGTTTACATTTGTCATTATCCATGTTTCCTTGAAAAGGAAATGAATGCAATTTTCATTTACTTGGGTGAAAGATAAACTAGGATGTTAGTGTTTGGATATATTTTTTCTTTTTCTATACTTAGGAAACTGGGAAGAACTGGTGAAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAGAATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTGGGTTTCCTTTTCAGATTTAAGAAAAACTAGTTGGGCTACTTGATTAGCTTGGTAGGATCAAAACATCATAACTGAAGAATTCCAAGGAAAAATCTATAGGAAAACAAATTCTTTCTCATTGTGAAGATATCAATTTGAAAAGAGGATTAAGCTCACACTAATATCTTGCTGAATGTGGGTTACCTTTTTTTTTCCAGGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGTTTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAAGAGGTAATCTAAACCCAAGTTTGAGTGAAGAATTAAAGAAACGCTATTTAAACATTAGTTTAAATAACTAGCCATGTTTTACATTTGAGTTCACAGAAAGGAAATGTTTATTCTAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCAACTACTATCAGGTATTAACGAGACTTTTATATGACCTGAGATCTTTTACCATAGATATTCTTATCTTTAACTGCACATTTCTCTTGTTCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGCTATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTAACCAGTCATTGTAACACAGTGAAGCAACTGTGTAGTTAAAACTAATGCTTCAAAATATCTTATTCTTTTTAAGGCTGTTAGCTAGACTCATATCTAAAGCAATTAAGTCTTTCTTATGCAGGTGCTAAGAGCTGCAGAACAAGCTCATCTT
TAGGAAATACCCTCTAAAATGCTATAAAAAGTCCTTTACTTTTTACCTTGAAATTAATCTATCATATCTTCTTTAGGTTTGCAATGAGAATTCCCTCTTCAAAAGTCTTTCTCGCTACCTGGTACGTCGAAAGGATCCAGAATTGTGGGGCAGCGTGCTGCTGGAAAGCAATCCTTACAGGAGACCCCTAATTGACCAGGTAACATTGGCAAATGTGTTTATGGCTGTCAGTAAAAATTATACATTTTTAACTATGAATACAATCCTTTCCCTCATCATGTACTCAAATGGATCATATATAACTATGAGAGAAAGCAATACAAAGTAGAAGAAAATTAAAATTTATATATATTCAATTTACATTCATTTGTATATAATGAATGTAAATTGATTATATACATTATATACAAATGAATGTACATTTATATAAGTATAAATATGTATATAACATACATTAAGAAAAATAAGCCATGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACGTAGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGCATGTAATCCCAGCTACTCGGCAGGAAAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTAAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAGACTGTCTCAAAAAAACAAAAAGAAAAAAGAAAAAGAAAATACATCCCAAAAGACCTGACTTAATTATATAAAACTCTCTTGGTTCATCATAGTTTAAAAGGAAAATAACAAACTAAACATTAAAGATTGCTATTATTAACACTTAAGTGGCTAAATTGATTGGAAACTTCAAGATAATAAGTCAGAAAAATATAAGGATAAGAGAAAATACAAAAGACCAAGTGCATCAGTGTTATATCTTACTAATAAGAAGTATAGAACTGCAAATGAGATGGGGTTTTATACCTAAATAAAATAGACAACATATTTTAAAAGTTCTAAAAATAGAAGAGTTGTTATAATGAGTCTTAAATTCTCCTGAGATAAGTATAAATAAAATATTTTGGAAACGAATAGGTTGAAGGCTATTAATATTTCATTCCTTTCCTAGGAAGCACTTCTAAGCAACATTCCCAAGTAGTTACAAAGCTTCCTAGGGGAAGGTTGTGGGGGTGGGGGCGATGGTTGGAAATCATTGCAGCATCTAGAAAACCAAGCAAATAGCCAAAACCAGACGAATTACCGATATTTTAATTCCACATCTGTGTAGCTGAATTTTGAATTATGTGTAGCCATTAAAGTGATAATGATGATTGCTAGCCTGGATAATGTTTTAATCAGGGAAAAGATAGAAATTATATAATTAGAGTAATTTTTCAACACAATTATACATATTGTATAGATTTGTGTAGAAAGACCTCTCTATGTAAATTTAAAGGTCTTTTTCCTACTTCATTCTTTTCTGCCTATTTCAAGTTTTCTAATGAGAGGCCAACTTACGCTTTTTTAAAACCAACTTGATTCTCAGTACTTATGTCCCATATATCCTCTGTAGGTTGTACAAACAGCTTTGTCTGAGACTCAGGACCCTGAAGAAGTGTCAGTAACTGTAAAGGCTTTCATGACTGCAGACCTTCCTAATGAACTCATTGAACTGCTGGAGAAAATTGTCCTTGATAACTCTGTATTCAGTGAACACAGGTATGCTTTCAGAGGGATCCATTGGCTATTTATAGTCAGTCTTTAATAAATTATGGCCCATCAGTTTTGGGAAGGAACAAAAAGATCAGAGAAAGTTGCCTGAATTCTCACTCTTCTAATATCCTCCCCCCTACCCTACCTCTTGAGACAAAAACCTCTCCGTTAGTCACAGTGGTTATTTTTTATGTCGGATAAACTTAAAATATTGCATTTAAAATATTCTTTTTTTTCTTAAAGGAATCTGCAAAACCTCCTTATCCTCACTGCAATTAAGGCTGACCGTACACGTGTTATGGAGTATATTAACCGCCCGGATAATTATGATGCCCCAGATATTGCCAATATCGCCATCAGCAATGAGCTGTTTGAAGAAGCATTTGCCATTTTCCGGAAATTTGATGTCAATACTTCAGCAGTTCAGGTAAATCTTCAGATTACCTAAGTTGAATTACTAAACACTGTGCTATGAGGGTGGGCCTAATTGGTTGCTACGGCAATAGAGCAGCAATAAAATACTAACAGCTTAAATGTAATTGCTTTGGGTAGGATTGATTTTACTCTAACCCTAATTTCAAACTTGGATACTTAGGTCTTAATTGAGCATATTGGAAACTTGGATCGGGCATATGAGTTTGCTGAACGTTGCAATGAACCTGCGGTCTGGAGTCAACTTGCAAAAGCCCAGTTGCAGAAAGGAATGGTGAAAGAAGCCATTGATTCTTATATCAAAGCAGATGATCCTTCCTCCTACATGGAAGTTGTTCAGGCTGCCAATACTAGTGGTATGACTTCTTACCTTATGTATTGAAACCTCATAAAATGATTAAGCTAAGCATTAAGATATCTGTCTATTCTGAATTTTAGAAGAGTTGGATACTGCATGGTTTCTTTTAGTGCTCCATCTTAGTCCAGATAAAAAGAGGCTGTATTTTGTGAATTTGTAAGTTCACAAAACTTACAAGTGGGGAAGATGAATCTTCTGTTTTTGAAGTCTCATAAAATCCTGATAGTGCTCTAATCTTAAAACTTTAAGGAAAAAGAATTCATCTATTCATTTGGTCCGTGATAATACAGAAGTGAAATATTGCACGGTTTACATTTGTCATTATCCATGTTTCCTTGAAAAGGAAATGAATGCAATTTTCATTTACTTGGGTGAAAGATAAACTAGGATGTTAGTGTTTGGATATATTTTTTCTTTTTCTATACTTAGGAAACTGGGAAGAACTGGTGAAGTACTTGCAGATGGCCCGTAAGAAGGCTCGAGAGTCCTATGTGGAGACAGAACTGATATTCGCACTGGCTAAAACAAACCGCCTTGCAGAGTTAGAAGAATTTATCAATGGACCAAATAATGCTCATATCCAACAAGTGGGTTTCCTTTTCAGATTTAAGAAAAACTAGTTGGGCTACTTGATTAGCTTGGTAGGATCAAAACATCATAACTGAAGAATTCCAAGGAAAAATCTATAGGAAAACAAATTCTTTCTCATTGTGAAGATATCAATTTGAAAAGAGGATTAAGCTCACACTAATATCTTGCTGAATGTGGGTTACCTTTTTTTTTCCAGGTTGGTGACCGTTGTTATGATGAAAAAATGTATGATGCTGCTAAGTTGTTGTACAATAATGTTTCCAATTTTGGACGTTTGGCATCTACCCTGGTTCACCTGGGTGAATATCAGGCAGCTGTTGATGGGGCTAGGAAAGCTAACAGTACTCGAACATGGAAAGAGGTAATCTAAACCCAAGTTTGAGTGAAGAATTAAAGAAACGCTATTTAAACATTAGTTTAAATAACTAGCCATGTTTTACATTTGAGTTCACAGAAAGGAAATGTTTATTCTAGGTCTGCTTCGCCTGTGTAGATGGGAAAGAATTCCGTCTTGCTCAGATGTGTGGACTTCATATTGTTGTACATGCAGATGAATTAGAAGAACTTATCAACTACTATCAGGTATTAACGAGACTTTTATATGACCTGAGATCTTTTACCATAGATATTCTTATCTTTAACTGCACATTTCTCTTGTTCAGGATCGTGGCTATTTTGAAGAGCTGATCACCATGTTGGAAGCAGCACTGGGACTTGAGCGAGCTCACATGGGAATGTTTACTGAATTAGCTATTCTATACTCTAAATTTAAGCCTCAGAAAATGAGGGAGCACCTGGAGCTGTTCTGGTCTAGAGTGAATATTCCCAAGGTAACCAGTCATTGTAACACAGTGAAGCAACTGTGTAGTTAAAACTAATGCTTCAAAATATCTTATTCTTTTTAAGGCTGTTAGCTAGACTCATATCTAAAGCAATTAAGTCTTTCTTATGCAGGTGCTAAGAGCTGCAGAACAAGCTCATCTT
Task1_train_25233
Assess the clinical impact of this variant on gene CLTC (clathrin heavy chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Abnormal corpus callosum morphology
ATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGTAAAACCTTTTGATTCTTGCACATAATCTCAAGACTCATAAAGTTATGTTTTCCCATTTTTTAAAAAAGCCATTATCCTTTAGGATTGTAAACAGTAGGTGCTTGCATACCTAGGATCTAAATTTAGTAAGATTTCAGGATTGATAAATCTTCTAATTAAGTGCCAAGTTTTCAGAATTTTGCTCAGATCTTGTATAAGATACTGCTTTTGAAAAAAATGATATGATTACTTTATCTCTAACATCTAGATTGTAGGTAGAGTCAAAAATGTCTTTGACCACTTAACTAATTCATAAAATTTATTTGGTATTAACTATATTTATTCACCATTTTTCTTGCCTACTGTTTTATTAGTGTTTGTATAAACTTTCTCTTATGAAGGATTTCACAAGCAAAAGTGAAGTAGAGTTAAGCTTAAGCTACTTGCCTTTTTTTCTCTCTCTTCATTTTCTTTGAGGCTCAGCGCATGCAGATCTGTACTGCTGCCATGCTGAGTTTTATCAGAAGTTTCTCTAGAGCACAGAATCTTGCCCTCCATGCCAGGCGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAATGAAACCCCGTCTCTACTAAAATACCAAAAAAATTAGCCGGTTGTGGTGGCACGTGCCTGTAGTAGCAGCTACTCGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCTAGAGGCAGGTTGCAGTGAGCCCAGATTGCATCACCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAGAAAAAAATCTTGCCCTCCAAATTAGAAATATTGTCCATTTCATAGCCATATGTTAGTCCTTGATAGTGAAAATCTTGGAGAAAATGGTATCTTTAGGTAAAATGAAAAATCATACCTTTTGATGCTTGAATCTAGGTGTCATATTACATGTTACCATCTAAGGGGCTCATTGATTGAGAACGGAATATAATGTTAAACAAAATACTGATCTGGCATTTGGATGGCTTTTTTTTTTTAAGGCTCTGCGAACATCAATAGATGCTTATGACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTGGAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGTTGATAAAGTTGCGGGGCAGGGGCTGTTTTAAACCAGGCCTAAAATGGTGTTACAAGTGATTATAATCTATAAATAAAAGTATTGGTTTTGTGAATATGAGAGCTGACTTTAAGGCAATTTAAGTTAATGGATTTCTTGATTCTAGGGGCTCTCTTATGTTAAGGTCAAACTTGTCTGGGGAAAAAAAAGCTTTTAGCTTATCTCTTCTTTGAAAATTTTAATTTAAATGATACAACTAGGAGGCTTTTTTCCCCTTGCAAAACCAGATTTATATTGGAAAGTTTCCATTGTTTTTCTTGGTTTACTAGTTCAGTATGTGGGGTCTAATGTTTTTGACTTTCACTATTTCTTTGAATAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTGCAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGATGTCGTCCTAGAAACTGCATGGAGGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTAATGACTCTTCTAAGTGTATTCAGAACTAGTTTCCTTGCATGTAAAATTCTACATGCACATTAATTTTTTTAAATGCTTTTTTCTTTAGTAGAAGTAAGTCATTTAGTCGATCATAAAATATTCCTGTTCTTTTGAAATTTTTTTTTAATAGCTGACAAATGACACTGATTGGAAGGGGAACTCAAATGTAGCTGTTTACCCTCAGTGTATTTATGAGGGTGAAAATAATCTATGTATTTTTTTATTTAAAAAACTTTGATAAATTTTATTTCAAAATAGTATTTTTCTCAAAATCAGTTCTTGTGACTCAAATATTCATGACTAGTATTGTAGATTCCCTTTTATTTGGTTGGTTCCTGACTTTAATGATGTCTATGCCTGTTTCCCCTGGGGAAGCTGCATGTATATTCTTAACATCCTTTTAATCTTCACAATTTTTTTGATAGTTTAACCCCTGATTTAAAAATACCATAGGAGGTGAACATGGGAAAAAAAAAACAAGCTGGGGGTCTAATTGCCTTATAACATTCACTATTCGTCTTAGTGTCCTTTTTTGATGTATGAATTTACTCACCCTATCTTCAGCAGTTACTAGCTGTCTCTCTGTAGAACATTTTTAAATGGTTTTAGAGGATCCTTTTCGTCAAAGCAAAAAACATGATTAAAATCAGAGTCTCACATCTGATTCCTTCAGCCTGCCTGAGTTGGGGGGATGGGAGGGTGAAGAAGCGCTACCAACAACCCCTCCCATACTGAATTTTTCCTCAGGATACCATTTAATTAGATACCATTGTGTCTGTTTAAAGTTTTTAAAGAATTAACATTTTCTGTATTCAATGTAAGAGAAAAAACATGTTGCCTTATCTTAGCCATAGATGAGAATAGCTTCTTAAACATAATGCCAACTTGTGAGACCTGTCTTTAAGCTGCTGTTAACCTAAGTGCTGTAAATTTTTCTAGTGATTAAGCTGCTTTCTTTCATACTGTAGCATAAATTCTTCTGCATTAAGCTTTGAAGTTACACAAAATTCTAAATTTTGCTTCCAGTATGCCCTTTATTTTCACTTCTCTCATACCTTTTTAGTGGTTAGATGTTTCTTCCCTAAACCTTTGTTGCTGATTCTACCTTTTTATGCTCAATATGGAATTGATTTTTTTTCTAAGCTGCACCTTCTGAATTCCTTTGCAGGTTGATGCAATAAAGGAAAAGGTGAAAGTTGATTCTTTAACATCTTTAAGTCTGGAGGACTAAGTCTAAGGAATTTGCATGATGTTTTTCCTTCCTCTTCTACACTGCTGCTGCTGCTTTTTCCCCCCAATAAATTTTCACTAAAGCCTCTGCAAGTCCCTTGAAACATAACTTTAATAGAGCTGTAGGACATTAGTAGACGTTTGCTACTAATCGGCTAATAGGCTTTAGGAAGGGCAGGAGGCTAATCAGTAGTTGGTTCACAGTCTCTCTTAAATATATTATGAAAAACTGAGTATGGTGAGTTTCCATATTAATTTCAAAGTAACAGGAAATTTCTCTTCCCTGTCAGGGTATCTGGACCATAATAGGACTGTCATAATCCTTGAAGTAAATTAAAACAGCCTCTGGTTTTACTTTGTGAGCTTGCCTGACAGTTGTCGAATTTATATATGTATATATACATGCCCTAAAAGGCTTTTTGGGGTTTTTTTTTTTTTGTATTGAAGGACTGTGATCCAGTTTCTGATCTCTTGATTCTTACTAATTTTTTGCTGAAAGTAGATACGAGAGATACTAGCTGCTTCCGAAGAGACTTTCCTCATGTTTCTCCAGGTGTCCAGTTCTTATGGTGCTAGTCCATTTTTAAGAGGAATCAAAACCTTTTTAATCATGAGAGCCAAGCTTGCTATAATTGTTGCTAAGCAACATGAATTATTTTTAACAAAGTATTAACTTCTACTTTCTGTAATAAGGCATACCTCTGA
ATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTGTGAATGAATCATTGAACAATCTTTTTATTACAGAAGAAGATTATCAGGTAAAACCTTTTGATTCTTGCACATAATCTCAAGACTCATAAAGTTATGTTTTCCCATTTTTTAAAAAAGCCATTATCCTTTAGGATTGTAAACAGTAGGTGCTTGCATACCTAGGATCTAAATTTAGTAAGATTTCAGGATTGATAAATCTTCTAATTAAGTGCCAAGTTTTCAGAATTTTGCTCAGATCTTGTATAAGATACTGCTTTTGAAAAAAATGATATGATTACTTTATCTCTAACATCTAGATTGTAGGTAGAGTCAAAAATGTCTTTGACCACTTAACTAATTCATAAAATTTATTTGGTATTAACTATATTTATTCACCATTTTTCTTGCCTACTGTTTTATTAGTGTTTGTATAAACTTTCTCTTATGAAGGATTTCACAAGCAAAAGTGAAGTAGAGTTAAGCTTAAGCTACTTGCCTTTTTTTCTCTCTCTTCATTTTCTTTGAGGCTCAGCGCATGCAGATCTGTACTGCTGCCATGCTGAGTTTTATCAGAAGTTTCTCTAGAGCACAGAATCTTGCCCTCCATGCCAGGCGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAATGAAACCCCGTCTCTACTAAAATACCAAAAAAATTAGCCGGTTGTGGTGGCACGTGCCTGTAGTAGCAGCTACTCGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCTAGAGGCAGGTTGCAGTGAGCCCAGATTGCATCACCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAGAAAAAAATCTTGCCCTCCAAATTAGAAATATTGTCCATTTCATAGCCATATGTTAGTCCTTGATAGTGAAAATCTTGGAGAAAATGGTATCTTTAGGTAAAATGAAAAATCATACCTTTTGATGCTTGAATCTAGGTGTCATATTACATGTTACCATCTAAGGGGCTCATTGATTGAGAACGGAATATAATGTTAAACAAAATACTGATCTGGCATTTGGATGGCTTTTTTTTTTTAAGGCTCTGCGAACATCAATAGATGCTTATGACAACTTTGACAATATCTCGCTTGCTCAGCGTTTGGAAAAACATGAACTCATTGAGTTCAGGAGAATTGCTGCTTATCTCTTCAAAGGCAACAATCGCTGGAAACAGAGTGTAGAGCTGTGCAAGAAAGACAGCCTTTACAAGGTTGATAAAGTTGCGGGGCAGGGGCTGTTTTAAACCAGGCCTAAAATGGTGTTACAAGTGATTATAATCTATAAATAAAAGTATTGGTTTTGTGAATATGAGAGCTGACTTTAAGGCAATTTAAGTTAATGGATTTCTTGATTCTAGGGGCTCTCTTATGTTAAGGTCAAACTTGTCTGGGGAAAAAAAAGCTTTTAGCTTATCTCTTCTTTGAAAATTTTAATTTAAATGATACAACTAGGAGGCTTTTTTCCCCTTGCAAAACCAGATTTATATTGGAAAGTTTCCATTGTTTTTCTTGGTTTACTAGTTCAGTATGTGGGGTCTAATGTTTTTGACTTTCACTATTTCTTTGAATAGGATGCAATGCAGTATGCTTCTGAATCTAAAGATACTGAATTGGCTGAAGAACTCCTGCAGTGGTTTTTGCAGGAAGAAAAAAGAGAGTGCTTTGGAGCTTGTCTGTTTACCTGTTACGATCTTTTAAGGCCAGGTGTCGTCCTAGAAACTGCATGGAGGCACAATATCATGGATTTTGCCATGCCCTATTTCATCCAGGTCATGAAGGAGTACTTGACAAAGGTAATGACTCTTCTAAGTGTATTCAGAACTAGTTTCCTTGCATGTAAAATTCTACATGCACATTAATTTTTTTAAATGCTTTTTTCTTTAGTAGAAGTAAGTCATTTAGTCGATCATAAAATATTCCTGTTCTTTTGAAATTTTTTTTTAATAGCTGACAAATGACACTGATTGGAAGGGGAACTCAAATGTAGCTGTTTACCCTCAGTGTATTTATGAGGGTGAAAATAATCTATGTATTTTTTTATTTAAAAAACTTTGATAAATTTTATTTCAAAATAGTATTTTTCTCAAAATCAGTTCTTGTGACTCAAATATTCATGACTAGTATTGTAGATTCCCTTTTATTTGGTTGGTTCCTGACTTTAATGATGTCTATGCCTGTTTCCCCTGGGGAAGCTGCATGTATATTCTTAACATCCTTTTAATCTTCACAATTTTTTTGATAGTTTAACCCCTGATTTAAAAATACCATAGGAGGTGAACATGGGAAAAAAAAAACAAGCTGGGGGTCTAATTGCCTTATAACATTCACTATTCGTCTTAGTGTCCTTTTTTGATGTATGAATTTACTCACCCTATCTTCAGCAGTTACTAGCTGTCTCTCTGTAGAACATTTTTAAATGGTTTTAGAGGATCCTTTTCGTCAAAGCAAAAAACATGATTAAAATCAGAGTCTCACATCTGATTCCTTCAGCCTGCCTGAGTTGGGGGGATGGGAGGGTGAAGAAGCGCTACCAACAACCCCTCCCATACTGAATTTTTCCTCAGGATACCATTTAATTAGATACCATTGTGTCTGTTTAAAGTTTTTAAAGAATTAACATTTTCTGTATTCAATGTAAGAGAAAAAACATGTTGCCTTATCTTAGCCATAGATGAGAATAGCTTCTTAAACATAATGCCAACTTGTGAGACCTGTCTTTAAGCTGCTGTTAACCTAAGTGCTGTAAATTTTTCTAGTGATTAAGCTGCTTTCTTTCATACTGTAGCATAAATTCTTCTGCATTAAGCTTTGAAGTTACACAAAATTCTAAATTTTGCTTCCAGTATGCCCTTTATTTTCACTTCTCTCATACCTTTTTAGTGGTTAGATGTTTCTTCCCTAAACCTTTGTTGCTGATTCTACCTTTTTATGCTCAATATGGAATTGATTTTTTTTCTAAGCTGCACCTTCTGAATTCCTTTGCAGGTTGATGCAATAAAGGAAAAGGTGAAAGTTGATTCTTTAACATCTTTAAGTCTGGAGGACTAAGTCTAAGGAATTTGCATGATGTTTTTCCTTCCTCTTCTACACTGCTGCTGCTGCTTTTTCCCCCCAATAAATTTTCACTAAAGCCTCTGCAAGTCCCTTGAAACATAACTTTAATAGAGCTGTAGGACATTAGTAGACGTTTGCTACTAATCGGCTAATAGGCTTTAGGAAGGGCAGGAGGCTAATCAGTAGTTGGTTCACAGTCTCTCTTAAATATATTATGAAAAACTGAGTATGGTGAGTTTCCATATTAATTTCAAAGTAACAGGAAATTTCTCTTCCCTGTCAGGGTATCTGGACCATAATAGGACTGTCATAATCCTTGAAGTAAATTAAAACAGCCTCTGGTTTTACTTTGTGAGCTTGCCTGACAGTTGTCGAATTTATATATGTATATATACATGCCCTAAAAGGCTTTTTGGGGTTTTTTTTTTTTTGTATTGAAGGACTGTGATCCAGTTTCTGATCTCTTGATTCTTACTAATTTTTTGCTGAAAGTAGATACGAGAGATACTAGCTGCTTCCGAAGAGACTTTCCTCATGTTTCTCCAGGTGTCCAGTTCTTATGGTGCTAGTCCATTTTTAAGAGGAATCAAAACCTTTTTAATCATGAGAGCCAAGCTTGCTATAATTGTTGCTAAGCAACATGAATTATTTTTAACAAAGTATTAACTTCTACTTTCTGTAATAAGGCATACCTCTGA
Task1_train_25234
This variant lies on Chromosome 17 and affects the gene PTRH2 (peptidyl-tRNA hydrolase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCATAGTATTCCTTTTAGTAGATATGCCATGACAGTTACTTAGCCACCCCATGCCATCCTGTTGGGAATGCCACTACCTTTGAATTTGGAGCCATCAGTCTATCTGAGGCAAACCTCAGAAATTACCTGAGCCAGAATCATGCACTTAGCACTGAGTTCAACTCAGTCTTAACGTTGCATTTTGTTGCATCACTTTTGCAGCCAGTAAACATTCTGTTTAGAAATAGTTGCTATTGTGGCATCATTCACAGTTGCAATTTTTCTCCTGTGCTGTCATATGCCTGTGCGAAGTGTATTAAATGAATCAAATATTAGAAATTTCAAGGCTGTCTTTAGTGTTCTGCCCACAATACTCCACCAATGACCTTAGACCTTGAGATGGTGCTATAACGCTGCTTATATTGCAGTTAACCATAGAGAGGTGGAGCCACTTAAAATGGGCCTATTACCAAAATTCTCCCTGGCATCATTACAGTTCTTGGGGATACACTGATTTTAGAAATTACTGTCAGTATCCTCCTAAAAGAAGGCTTAAATAGTTTCTAACAAGATGACTATCAGGAAGCTATGTGGCTTGGGGAGTTGGGACCCTCTGCCTCATATTCTGGGTAACTGGTATAACATAGTAATTATTAGGATTGTATCAAGTGTATCTAAAGATCAAAAGGGAAAAAAGGCACCCTTAATTGTCAAAGTTAGTTCTAGGAAAAAATACTAGCAGGGATGACAAACTACGTTCACTTTACAGTTACCATAAATTCTTACTTGGGCCCACCCATTTCCATCTGTTAAGGTCCATAAGGTTACTCAAGTTTCAGTGGCTTCATTGTTACAAGAAAGGGGGGAAGTGAGAAACTTTAATAGGCTGTGATTTAGAACCACTGCTGATTAACCTTTGGCCAGTATGGGTCAGGGAAGGTGAACATGAAACACTGCACAGTAGGTTGTATCAATGCTATAAAACTCAACCTGGAGACAAAATTTAAACAGGTTATAAACCATGGGACTCCATTGAGGGTGGCTGTATCAGTCACCCAAAAAGTGACAGCAGGGGAACAAACTGCAGCTTGCCTCTAGTGGGAATACCCTTGAACCTCGACCTCCAGGGGGACAGCAGCATAGTCTTGGGGAAGGGCTACCAACACAAAGGGACCTAACCATGTATAGGGAAATGCTGTTTCCTCCATTTTAATCCAATTGTATCATGACCTGTTTCTCTCATCTTAAATATCTGTTTCAGCCTCTCACTTGAACCACCAAGACCATTTAACCAACAGTACTGTTTTTAAGCCCAAGATGACAACTGCCAACCATAGAACATGGGAATAGGTTTTATTTTCATCTCAAGAACATTTAAGTTGGGTGAAGAAATTCAGCTTTTGTTGTTAGAATCTGACAGGCTTCAAACACTTGTGATGGAGGGGTTGTTGTCATATCAAAGTCCACCTAGTAAAGTTTTAGGTGACCAGTGACTTTGTCAATTAGGTCTGCTGGTCCTGGCCCAATCCCTAGGACAGTTTGAGAGCCTGGTGCAATCTGAGTACGTCCAGCATCTTGAATTAAACTTACAGTCAGTCCCAGCATTTTTGCATGGGCCAATAATGCAATCAGGGTTTCTTCATCAGGAGCTTTGACCACCACCTTGGGCTGGCCACAGTATTCCCATTGTTTGAGCATTTCAGGATTTCTTCTTTGAATCTGCTTGTAGGCTGAAACAGCAGCATGAGAGCACTGGGCAGCCACTTTCCCTTTTCCCATCTTTAAGTCATTTCGAACCACAAGAATCATCTTGTACTCCCCGCTGTCTCCCAAGATGCTTGCTTCACTTTCAGTATCTGTGTGTGTCTTGCTCGTCTTGCTTTTGGGGAGCATCCCAAAGCATACTCGAAGGCTCCAGCCCAGGCACATGCCACAAGCAACTCCAACAGCCAAGCCGAGTGTACTGGGATGAGCCAAATATTCCATAACCAAGGATTTGGAGGGCATCTTAAAGGAAAGGAAAACAGTTATCACTATCCGGCAGTAACAACTTACAGAGGTATAGGCTTATCAGAGAAACATTTTGACTATACACTTAATGGTCATCCAGAAAAAAGGCAAAACACACCTTTGATCTTATGCCTGCACCCTGTTTCCAACACCCTCTTGCCCACCACCAGTGTACTAGAAAAGATTCAAGCATCCACATGAAACAGTTTAGGTCATTTTGAATCTTGATGTAAACGAAGTTGCATAAAGTTCAAAAACTCTATTCCTCAGTCTTCCCTTAGTCTTGTGGAGATGTTCCGTTTTACCAAGATGCCTAAGATTTAAAGAAACCAAAAATAACCCTTTCCTGGAATACAGTGCTAATCGGTGTTTTCACAATGCAGTGGTTCTCAGTGGAGATGGTATCAAATCAGTTACCCTCAGAAGAACCTCACTGTCACATTAATGGGCCTGGAGTGAGGTGCACTACTGAAATTTACTAAGCCTGAGCAAGGATGCTAAAAACCTTACAAAATGAAGAGTTGTCCCATTGGACGTGAGTGCAGCTGAAAAACTTAATAACTGAGATGAGAACTCAACATCATTTTACTTAAGAACACAAAATATTTTTTGCATAGTTTTACTATGTACAGGTGCTCCTCAATTTTCCATGGGGTTATATCCCAATTAACCCAATTAATTGAAAATACTGTAAGCCAAAAATGCATTTAATACACCTACAGAATATCATGACTTAGCCTAGCCTACCTTAAATGTGCTCAGAACACTTACATTAGCCTACAGTTGGACAAAAATCATCTAACACGAGGCTCTTTTATAATAGTGTTGAATATCTCCTGTAATTTATTGAATACTGTAAGTGGAAAACAATGGTTGTATGGGTACTCACCATTAATTTACACAGCTGAAAGCACAGTGGTCCTGAAAAATGTTTGAAGCACTGAAATAGAATTAATTGCTGGATGATGGGGATGCAACAGGGTCCTCAATTTCTCTCTCTTCTGATGAACATCGAGAATAGGTGGTAGAAGGCATTGGGACATCAACACTAGTTGATGGTTTAGCAAGCATAGTGTTGTTCTTCAGGAAGATACCAAGTTTTGACCGTACAGCTTGTTTCTTCTTTTCACTATATATTTCTCTGTAGCAAGCAAGAGCATCCTGTATCTGCGCCTGTCAACTGTGGCGAATCTCTCGTAATTGACGTCCATTTCTTCTAACGTGTAGGCCACTGCTGATAGCAGCAAATGCCTCTGCCAGTTTCTTTGCTGTGAACTTTCTAGGTGCCGTGGGTGTAACTTCTTCCACTGCCTCAACGCCTTTACCTCTTTCTTCCTCCAGTGCAATCAGCTCCTTATTGCAAAGATCTTTAGCCATAATTATCCTATGCAGCTGTTCCTTAAAAGCTATGGCACCTTCATTACCAGCACGTGCTGCCTCACCAGTGATCTTTACATTGTGAAAATTATGACGCCTTTTGAAGCGCTGGAACCATCCATGACTTGCTTTAAACATTTGTGTATATGTAGGATCACTGGCACGGTCTTTTAGCATATTAAAAAGACTTCTTGCCTTAGCCTGGATCATCAGTAGGCTAAGTGGTATACGCTTCTGTATCTGGTCTTCCATCCACATAACAAGTAATTTTTCCATATCATCAATTGGTCCAGCCCTTTTCTTTGTGATGACAGTGGATTTAACTGATGCTGACGATTTCGCTGCATCACTGATTTGCTTCTTATCCCTTAAGATGGTTGAAATCGTGGATTGCCAAAGTCCTAACTCACGTGC
AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCATAGTATTCCTTTTAGTAGATATGCCATGACAGTTACTTAGCCACCCCATGCCATCCTGTTGGGAATGCCACTACCTTTGAATTTGGAGCCATCAGTCTATCTGAGGCAAACCTCAGAAATTACCTGAGCCAGAATCATGCACTTAGCACTGAGTTCAACTCAGTCTTAACGTTGCATTTTGTTGCATCACTTTTGCAGCCAGTAAACATTCTGTTTAGAAATAGTTGCTATTGTGGCATCATTCACAGTTGCAATTTTTCTCCTGTGCTGTCATATGCCTGTGCGAAGTGTATTAAATGAATCAAATATTAGAAATTTCAAGGCTGTCTTTAGTGTTCTGCCCACAATACTCCACCAATGACCTTAGACCTTGAGATGGTGCTATAACGCTGCTTATATTGCAGTTAACCATAGAGAGGTGGAGCCACTTAAAATGGGCCTATTACCAAAATTCTCCCTGGCATCATTACAGTTCTTGGGGATACACTGATTTTAGAAATTACTGTCAGTATCCTCCTAAAAGAAGGCTTAAATAGTTTCTAACAAGATGACTATCAGGAAGCTATGTGGCTTGGGGAGTTGGGACCCTCTGCCTCATATTCTGGGTAACTGGTATAACATAGTAATTATTAGGATTGTATCAAGTGTATCTAAAGATCAAAAGGGAAAAAAGGCACCCTTAATTGTCAAAGTTAGTTCTAGGAAAAAATACTAGCAGGGATGACAAACTACGTTCACTTTACAGTTACCATAAATTCTTACTTGGGCCCACCCATTTCCATCTGTTAAGGTCCATAAGGTTACTCAAGTTTCAGTGGCTTCATTGTTACAAGAAAGGGGGGAAGTGAGAAACTTTAATAGGCTGTGATTTAGAACCACTGCTGATTAACCTTTGGCCAGTATGGGTCAGGGAAGGTGAACATGAAACACTGCACAGTAGGTTGTATCAATGCTATAAAACTCAACCTGGAGACAAAATTTAAACAGGTTATAAACCATGGGACTCCATTGAGGGTGGCTGTATCAGTCACCCAAAAAGTGACAGCAGGGGAACAAACTGCAGCTTGCCTCTAGTGGGAATACCCTTGAACCTCGACCTCCAGGGGGACAGCAGCATAGTCTTGGGGAAGGGCTACCAACACAAAGGGACCTAACCATGTATAGGGAAATGCTGTTTCCTCCATTTTAATCCAATTGTATCATGACCTGTTTCTCTCATCTTAAATATCTGTTTCAGCCTCTCACTTGAACCACCAAGACCATTTAACCAACAGTACTGTTTTTAAGCCCAAGATGACAACTGCCAACCATAGAACATGGGAATAGGTTTTATTTTCATCTCAAGAACATTTAAGTTGGGTGAAGAAATTCAGCTTTTGTTGTTAGAATCTGACAGGCTTCAAACACTTGTGATGGAGGGGTTGTTGTCATATCAAAGTCCACCTAGTAAAGTTTTAGGTGACCAGTGACTTTGTCAATTAGGTCTGCTGGTCCTGGCCCAATCCCTAGGACAGTTTGAGAGCCTGGTGCAATCTGAGTACGTCCAGCATCTTGAATTAAACTTACAGTCAGTCCCAGCATTTTTGCATGGGCCAATAATGCAATCAGGGTTTCTTCATCAGGAGCTTTGACCACCACCTTGGGCTGGCCACAGTATTCCCATTGTTTGAGCATTTCAGGATTTCTTCTTTGAATCTGCTTGTAGGCTGAAACAGCAGCATGAGAGCACGGGGCAGCCACTTTCCCTTTTCCCATCTTTAAGTCATTTCGAACCACAAGAATCATCTTGTACTCCCCGCTGTCTCCCAAGATGCTTGCTTCACTTTCAGTATCTGTGTGTGTCTTGCTCGTCTTGCTTTTGGGGAGCATCCCAAAGCATACTCGAAGGCTCCAGCCCAGGCACATGCCACAAGCAACTCCAACAGCCAAGCCGAGTGTACTGGGATGAGCCAAATATTCCATAACCAAGGATTTGGAGGGCATCTTAAAGGAAAGGAAAACAGTTATCACTATCCGGCAGTAACAACTTACAGAGGTATAGGCTTATCAGAGAAACATTTTGACTATACACTTAATGGTCATCCAGAAAAAAGGCAAAACACACCTTTGATCTTATGCCTGCACCCTGTTTCCAACACCCTCTTGCCCACCACCAGTGTACTAGAAAAGATTCAAGCATCCACATGAAACAGTTTAGGTCATTTTGAATCTTGATGTAAACGAAGTTGCATAAAGTTCAAAAACTCTATTCCTCAGTCTTCCCTTAGTCTTGTGGAGATGTTCCGTTTTACCAAGATGCCTAAGATTTAAAGAAACCAAAAATAACCCTTTCCTGGAATACAGTGCTAATCGGTGTTTTCACAATGCAGTGGTTCTCAGTGGAGATGGTATCAAATCAGTTACCCTCAGAAGAACCTCACTGTCACATTAATGGGCCTGGAGTGAGGTGCACTACTGAAATTTACTAAGCCTGAGCAAGGATGCTAAAAACCTTACAAAATGAAGAGTTGTCCCATTGGACGTGAGTGCAGCTGAAAAACTTAATAACTGAGATGAGAACTCAACATCATTTTACTTAAGAACACAAAATATTTTTTGCATAGTTTTACTATGTACAGGTGCTCCTCAATTTTCCATGGGGTTATATCCCAATTAACCCAATTAATTGAAAATACTGTAAGCCAAAAATGCATTTAATACACCTACAGAATATCATGACTTAGCCTAGCCTACCTTAAATGTGCTCAGAACACTTACATTAGCCTACAGTTGGACAAAAATCATCTAACACGAGGCTCTTTTATAATAGTGTTGAATATCTCCTGTAATTTATTGAATACTGTAAGTGGAAAACAATGGTTGTATGGGTACTCACCATTAATTTACACAGCTGAAAGCACAGTGGTCCTGAAAAATGTTTGAAGCACTGAAATAGAATTAATTGCTGGATGATGGGGATGCAACAGGGTCCTCAATTTCTCTCTCTTCTGATGAACATCGAGAATAGGTGGTAGAAGGCATTGGGACATCAACACTAGTTGATGGTTTAGCAAGCATAGTGTTGTTCTTCAGGAAGATACCAAGTTTTGACCGTACAGCTTGTTTCTTCTTTTCACTATATATTTCTCTGTAGCAAGCAAGAGCATCCTGTATCTGCGCCTGTCAACTGTGGCGAATCTCTCGTAATTGACGTCCATTTCTTCTAACGTGTAGGCCACTGCTGATAGCAGCAAATGCCTCTGCCAGTTTCTTTGCTGTGAACTTTCTAGGTGCCGTGGGTGTAACTTCTTCCACTGCCTCAACGCCTTTACCTCTTTCTTCCTCCAGTGCAATCAGCTCCTTATTGCAAAGATCTTTAGCCATAATTATCCTATGCAGCTGTTCCTTAAAAGCTATGGCACCTTCATTACCAGCACGTGCTGCCTCACCAGTGATCTTTACATTGTGAAAATTATGACGCCTTTTGAAGCGCTGGAACCATCCATGACTTGCTTTAAACATTTGTGTATATGTAGGATCACTGGCACGGTCTTTTAGCATATTAAAAAGACTTCTTGCCTTAGCCTGGATCATCAGTAGGCTAAGTGGTATACGCTTCTGTATCTGGTCTTCCATCCACATAACAAGTAATTTTTCCATATCATCAATTGGTCCAGCCCTTTTCTTTGTGATGACAGTGGATTTAACTGATGCTGACGATTTCGCTGCATCACTGATTTGCTTCTTATCCCTTAAGATGGTTGAAATCGTGGATTGCCAAAGTCCTAACTCACGTGC
Task1_train_25235
A variant affecting Chromosome 17, within the gene PTRH2 (peptidyl-tRNA hydrolase 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCATAGTATTCCTTTTAGTAGATATGCCATGACAGTTACTTAGCCACCCCATGCCATCCTGTTGGGAATGCCACTACCTTTGAATTTGGAGCCATCAGTCTATCTGAGGCAAACCTCAGAAATTACCTGAGCCAGAATCATGCACTTAGCACTGAGTTCAACTCAGTCTTAACGTTGCATTTTGTTGCATCACTTTTGCAGCCAGTAAACATTCTGTTTAGAAATAGTTGCTATTGTGGCATCATTCACAGTTGCAATTTTTCTCCTGTGCTGTCATATGCCTGTGCGAAGTGTATTAAATGAATCAAATATTAGAAATTTCAAGGCTGTCTTTAGTGTTCTGCCCACAATACTCCACCAATGACCTTAGACCTTGAGATGGTGCTATAACGCTGCTTATATTGCAGTTAACCATAGAGAGGTGGAGCCACTTAAAATGGGCCTATTACCAAAATTCTCCCTGGCATCATTACAGTTCTTGGGGATACACTGATTTTAGAAATTACTGTCAGTATCCTCCTAAAAGAAGGCTTAAATAGTTTCTAACAAGATGACTATCAGGAAGCTATGTGGCTTGGGGAGTTGGGACCCTCTGCCTCATATTCTGGGTAACTGGTATAACATAGTAATTATTAGGATTGTATCAAGTGTATCTAAAGATCAAAAGGGAAAAAAGGCACCCTTAATTGTCAAAGTTAGTTCTAGGAAAAAATACTAGCAGGGATGACAAACTACGTTCACTTTACAGTTACCATAAATTCTTACTTGGGCCCACCCATTTCCATCTGTTAAGGTCCATAAGGTTACTCAAGTTTCAGTGGCTTCATTGTTACAAGAAAGGGGGGAAGTGAGAAACTTTAATAGGCTGTGATTTAGAACCACTGCTGATTAACCTTTGGCCAGTATGGGTCAGGGAAGGTGAACATGAAACACTGCACAGTAGGTTGTATCAATGCTATAAAACTCAACCTGGAGACAAAATTTAAACAGGTTATAAACCATGGGACTCCATTGAGGGTGGCTGTATCAGTCACCCAAAAAGTGACAGCAGGGGAACAAACTGCAGCTTGCCTCTAGTGGGAATACCCTTGAACCTCGACCTCCAGGGGGACAGCAGCATAGTCTTGGGGAAGGGCTACCAACACAAAGGGACCTAACCATGTATAGGGAAATGCTGTTTCCTCCATTTTAATCCAATTGTATCATGACCTGTTTCTCTCATCTTAAATATCTGTTTCAGCCTCTCACTTGAACCACCAAGACCATTTAACCAACAGTACTGTTTTTAAGCCCAAGATGACAACTGCCAACCATAGAACATGGGAATAGGTTTTATTTTCATCTCAAGAACATTTAAGTTGGGTGAAGAAATTCAGCTTTTGTTGTTAGAATCTGACAGGCTTCAAACACTTGTGATGGAGGGGTTGTTGTCATATCAAAGTCCACCTAGTAAAGTTTTAGGTGACCAGTGACTTTGTCAATTAGGTCTGCTGGTCCTGGCCCAATCCCTAGGACAGTTTGAGAGCCTGGTGCAATCTGAGTACGTCCAGCATCTTGAATTAAACTTACAGTCAGTCCCAGCATTTTTGCATGGGCCAATAATGCAATCAGGGTTTCTTCATCAGGAGCTTTGACCACCACCTTGGGCTGGCCACAGTATTCCCATTGTTTGAGCATTTCAGGATTTCTTCTTTGAATCTGCTTGTAGGCTGAAACAGCAGCATGAGAGCACTGGGCAGCCACTTTCCCTTTTCCCATCTTTAAGTCATTTCGAACCACAAGAATCATCTTGTACTCCCCGCTGTCTCCCAAGATGCTTGCTTCACTTTCAGTATCTGTGTGTGTCTTGCTCGTCTTGCTTTTGGGGAGCATCCCAAAGCATACTCGAAGGCTCCAGCCCAGGCACATGCCACAAGCAACTCCAACAGCCAAGCCGAGTGTACTGGGATGAGCCAAATATTCCATAACCAAGGATTTGGAGGGCATCTTAAAGGAAAGGAAAACAGTTATCACTATCCGGCAGTAACAACTTACAGAGGTATAGGCTTATCAGAGAAACATTTTGACTATACACTTAATGGTCATCCAGAAAAAAGGCAAAACACACCTTTGATCTTATGCCTGCACCCTGTTTCCAACACCCTCTTGCCCACCACCAGTGTACTAGAAAAGATTCAAGCATCCACATGAAACAGTTTAGGTCATTTTGAATCTTGATGTAAACGAAGTTGCATAAAGTTCAAAAACTCTATTCCTCAGTCTTCCCTTAGTCTTGTGGAGATGTTCCGTTTTACCAAGATGCCTAAGATTTAAAGAAACCAAAAATAACCCTTTCCTGGAATACAGTGCTAATCGGTGTTTTCACAATGCAGTGGTTCTCAGTGGAGATGGTATCAAATCAGTTACCCTCAGAAGAACCTCACTGTCACATTAATGGGCCTGGAGTGAGGTGCACTACTGAAATTTACTAAGCCTGAGCAAGGATGCTAAAAACCTTACAAAATGAAGAGTTGTCCCATTGGACGTGAGTGCAGCTGAAAAACTTAATAACTGAGATGAGAACTCAACATCATTTTACTTAAGAACACAAAATATTTTTTGCATAGTTTTACTATGTACAGGTGCTCCTCAATTTTCCATGGGGTTATATCCCAATTAACCCAATTAATTGAAAATACTGTAAGCCAAAAATGCATTTAATACACCTACAGAATATCATGACTTAGCCTAGCCTACCTTAAATGTGCTCAGAACACTTACATTAGCCTACAGTTGGACAAAAATCATCTAACACGAGGCTCTTTTATAATAGTGTTGAATATCTCCTGTAATTTATTGAATACTGTAAGTGGAAAACAATGGTTGTATGGGTACTCACCATTAATTTACACAGCTGAAAGCACAGTGGTCCTGAAAAATGTTTGAAGCACTGAAATAGAATTAATTGCTGGATGATGGGGATGCAACAGGGTCCTCAATTTCTCTCTCTTCTGATGAACATCGAGAATAGGTGGTAGAAGGCATTGGGACATCAACACTAGTTGATGGTTTAGCAAGCATAGTGTTGTTCTTCAGGAAGATACCAAGTTTTGACCGTACAGCTTGTTTCTTCTTTTCACTATATATTTCTCTGTAGCAAGCAAGAGCATCCTGTATCTGCGCCTGTCAACTGTGGCGAATCTCTCGTAATTGACGTCCATTTCTTCTAACGTGTAGGCCACTGCTGATAGCAGCAAATGCCTCTGCCAGTTTCTTTGCTGTGAACTTTCTAGGTGCCGTGGGTGTAACTTCTTCCACTGCCTCAACGCCTTTACCTCTTTCTTCCTCCAGTGCAATCAGCTCCTTATTGCAAAGATCTTTAGCCATAATTATCCTATGCAGCTGTTCCTTAAAAGCTATGGCACCTTCATTACCAGCACGTGCTGCCTCACCAGTGATCTTTACATTGTGAAAATTATGACGCCTTTTGAAGCGCTGGAACCATCCATGACTTGCTTTAAACATTTGTGTATATGTAGGATCACTGGCACGGTCTTTTAGCATATTAAAAAGACTTCTTGCCTTAGCCTGGATCATCAGTAGGCTAAGTGGTATACGCTTCTGTATCTGGTCTTCCATCCACATAACAAGTAATTTTTCCATATCATCAATTGGTCCAGCCCTTTTCTTTGTGATGACAGTGGATTTAACTGATGCTGACGATTTCGCTGCATCACTGATTTGCTTCTTATCCCTTAAGATGGTTGAAATCGTGGATTGCCAAAGTCCTAACTCACGTGC
AAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACAATTACCAGAATTTTCATAGTATTCCTTTTAGTAGATATGCCATGACAGTTACTTAGCCACCCCATGCCATCCTGTTGGGAATGCCACTACCTTTGAATTTGGAGCCATCAGTCTATCTGAGGCAAACCTCAGAAATTACCTGAGCCAGAATCATGCACTTAGCACTGAGTTCAACTCAGTCTTAACGTTGCATTTTGTTGCATCACTTTTGCAGCCAGTAAACATTCTGTTTAGAAATAGTTGCTATTGTGGCATCATTCACAGTTGCAATTTTTCTCCTGTGCTGTCATATGCCTGTGCGAAGTGTATTAAATGAATCAAATATTAGAAATTTCAAGGCTGTCTTTAGTGTTCTGCCCACAATACTCCACCAATGACCTTAGACCTTGAGATGGTGCTATAACGCTGCTTATATTGCAGTTAACCATAGAGAGGTGGAGCCACTTAAAATGGGCCTATTACCAAAATTCTCCCTGGCATCATTACAGTTCTTGGGGATACACTGATTTTAGAAATTACTGTCAGTATCCTCCTAAAAGAAGGCTTAAATAGTTTCTAACAAGATGACTATCAGGAAGCTATGTGGCTTGGGGAGTTGGGACCCTCTGCCTCATATTCTGGGTAACTGGTATAACATAGTAATTATTAGGATTGTATCAAGTGTATCTAAAGATCAAAAGGGAAAAAAGGCACCCTTAATTGTCAAAGTTAGTTCTAGGAAAAAATACTAGCAGGGATGACAAACTACGTTCACTTTACAGTTACCATAAATTCTTACTTGGGCCCACCCATTTCCATCTGTTAAGGTCCATAAGGTTACTCAAGTTTCAGTGGCTTCATTGTTACAAGAAAGGGGGGAAGTGAGAAACTTTAATAGGCTGTGATTTAGAACCACTGCTGATTAACCTTTGGCCAGTATGGGTCAGGGAAGGTGAACATGAAACACTGCACAGTAGGTTGTATCAATGCTATAAAACTCAACCTGGAGACAAAATTTAAACAGGTTATAAACCATGGGACTCCATTGAGGGTGGCTGTATCAGTCACCCAAAAAGTGACAGCAGGGGAACAAACTGCAGCTTGCCTCTAGTGGGAATACCCTTGAACCTCGACCTCCAGGGGGACAGCAGCATAGTCTTGGGGAAGGGCTACCAACACAAAGGGACCTAACCATGTATAGGGAAATGCTGTTTCCTCCATTTTAATCCAATTGTATCATGACCTGTTTCTCTCATCTTAAATATCTGTTTCAGCCTCTCACTTGAACCACCAAGACCATTTAACCAACAGTACTGTTTTTAAGCCCAAGATGACAACTGCCAACCATAGAACATGGGAATAGGTTTTATTTTCATCTCAAGAACATTTAAGTTGGGTGAAGAAATTCAGCTTTTGTTGTTAGAATCTGACAGGCTTCAAACACTTGTGATGGAGGGGTTGTTGTCATATCAAAGTCCACCTAGTAAAGTTTTAGGTGACCAGTGACTTTGTCAATTAGGTCTGCTGGTCCTGGCCCAATCCCTAGGACAGTTTGAGAGCCTGGTGCAATCTGAGTACGTCCAGCATCTTGAATTAAACTTACAGTCAGTCCCAGCATTTTTGCATGGGCCAATAATGCAATCAGGGTTTCTTCATCAGGAGCTTTGACCACCACCTTGGGCTGGCCACAGTATTCCCATTGTTTGAGCATTTCAGGATTTCTTCTTTGAATCTGCTTGTAGGCTGAAACAGCAGCATGAGAGCACGGGGCAGCCACTTTCCCTTTTCCCATCTTTAAGTCATTTCGAACCACAAGAATCATCTTGTACTCCCCGCTGTCTCCCAAGATGCTTGCTTCACTTTCAGTATCTGTGTGTGTCTTGCTCGTCTTGCTTTTGGGGAGCATCCCAAAGCATACTCGAAGGCTCCAGCCCAGGCACATGCCACAAGCAACTCCAACAGCCAAGCCGAGTGTACTGGGATGAGCCAAATATTCCATAACCAAGGATTTGGAGGGCATCTTAAAGGAAAGGAAAACAGTTATCACTATCCGGCAGTAACAACTTACAGAGGTATAGGCTTATCAGAGAAACATTTTGACTATACACTTAATGGTCATCCAGAAAAAAGGCAAAACACACCTTTGATCTTATGCCTGCACCCTGTTTCCAACACCCTCTTGCCCACCACCAGTGTACTAGAAAAGATTCAAGCATCCACATGAAACAGTTTAGGTCATTTTGAATCTTGATGTAAACGAAGTTGCATAAAGTTCAAAAACTCTATTCCTCAGTCTTCCCTTAGTCTTGTGGAGATGTTCCGTTTTACCAAGATGCCTAAGATTTAAAGAAACCAAAAATAACCCTTTCCTGGAATACAGTGCTAATCGGTGTTTTCACAATGCAGTGGTTCTCAGTGGAGATGGTATCAAATCAGTTACCCTCAGAAGAACCTCACTGTCACATTAATGGGCCTGGAGTGAGGTGCACTACTGAAATTTACTAAGCCTGAGCAAGGATGCTAAAAACCTTACAAAATGAAGAGTTGTCCCATTGGACGTGAGTGCAGCTGAAAAACTTAATAACTGAGATGAGAACTCAACATCATTTTACTTAAGAACACAAAATATTTTTTGCATAGTTTTACTATGTACAGGTGCTCCTCAATTTTCCATGGGGTTATATCCCAATTAACCCAATTAATTGAAAATACTGTAAGCCAAAAATGCATTTAATACACCTACAGAATATCATGACTTAGCCTAGCCTACCTTAAATGTGCTCAGAACACTTACATTAGCCTACAGTTGGACAAAAATCATCTAACACGAGGCTCTTTTATAATAGTGTTGAATATCTCCTGTAATTTATTGAATACTGTAAGTGGAAAACAATGGTTGTATGGGTACTCACCATTAATTTACACAGCTGAAAGCACAGTGGTCCTGAAAAATGTTTGAAGCACTGAAATAGAATTAATTGCTGGATGATGGGGATGCAACAGGGTCCTCAATTTCTCTCTCTTCTGATGAACATCGAGAATAGGTGGTAGAAGGCATTGGGACATCAACACTAGTTGATGGTTTAGCAAGCATAGTGTTGTTCTTCAGGAAGATACCAAGTTTTGACCGTACAGCTTGTTTCTTCTTTTCACTATATATTTCTCTGTAGCAAGCAAGAGCATCCTGTATCTGCGCCTGTCAACTGTGGCGAATCTCTCGTAATTGACGTCCATTTCTTCTAACGTGTAGGCCACTGCTGATAGCAGCAAATGCCTCTGCCAGTTTCTTTGCTGTGAACTTTCTAGGTGCCGTGGGTGTAACTTCTTCCACTGCCTCAACGCCTTTACCTCTTTCTTCCTCCAGTGCAATCAGCTCCTTATTGCAAAGATCTTTAGCCATAATTATCCTATGCAGCTGTTCCTTAAAAGCTATGGCACCTTCATTACCAGCACGTGCTGCCTCACCAGTGATCTTTACATTGTGAAAATTATGACGCCTTTTGAAGCGCTGGAACCATCCATGACTTGCTTTAAACATTTGTGTATATGTAGGATCACTGGCACGGTCTTTTAGCATATTAAAAAGACTTCTTGCCTTAGCCTGGATCATCAGTAGGCTAAGTGGTATACGCTTCTGTATCTGGTCTTCCATCCACATAACAAGTAATTTTTCCATATCATCAATTGGTCCAGCCCTTTTCTTTGTGATGACAGTGGATTTAACTGATGCTGACGATTTCGCTGCATCACTGATTTGCTTCTTATCCCTTAAGATGGTTGAAATCGTGGATTGCCAAAGTCCTAACTCACGTGC
Task1_train_25236
Consider a variant on Chromosome 17 in gene CA4 (carbonic anhydrase 4). Determine its clinical classification and disease relevance.
Pathogenic; Retinal dystrophy
CTCTTATTAACATCTTGCATCCATGTGGGACATTTGAGGTGCAGCCTTTTTTTCAGAGATGCTGGGTTCTATTGCCCTGAGGCAGAGCCCTCAGCCTGTCCCCAGAGATCAGGACTGTGCGGTTGAGGGGCAGGGGAGGAAGCCTGGCTGCTTTCCTCCTAGCGGGAGCTGTGAGACGCTAGCCAAGAAGGGATCTTAGTAACACAGGGTGAGACATTCTGGGGAGGGGCCGCCTAATCTCCTCCCTCATCTTGGATCTGGGAAGGCTGCCCGGTTGAACCTGACTCTATTGTCCCAGGAGCGGAGGCTGGGCCAAGTCCTCCTCTTCTCCTCTCACCAGCCTCTTTTCCAGGTTTGGGGTGGGGGAGGTAAGCGCGGAGGAGGCTGCTGGTGACCAAAGGATGGAGTATCCAAGCCAGCCCCATGTTAGAGATGAGTGGCCTCAGAGGGCTTCCCTGGAGGGCCAGTGGCTGCTTGGCCTGGCCCTGCCTGGGGAACAGAGCCCTATGCCAGCTGACCTGTTGATCAGCCCCTGCTTGGTTTTCAATTGAGTCTCTTTTTCTGGGCCCTCAATCCTGCTGCCAGGAACACTCCATCCCAGCCCAAGAGGGGCTCCAACCCCAGGGGTAGGCCCAGCCTCTGATCCTCCTGTGTGTGTGAGCAACAAGACACACGCACGCACACTTCACACCCTTCCTCTCTGCTCCAGAGTCACACTGGTGCTACGAGGTTCAAGCCGAGTCCTCCAACTACCCCTGCTTGGGTGAGTACAGCCAGTCCAGGGGACTGCTCTTTGTGCATGGTGGGCACCACGCAAGCCGAAATGGAGACCCCGGAAGAGTGGGAAGGGGAGGGGTGATGGTGGCTTCCCAGGCAGATATCAGTTCCCAGCATACACACACACACACACACACACACACTCTCTCTCTCTCTCTCACACACACACACACACAGATATACAAACACACACACTCACACAGAAACACACACACAACACACACACAAGCACACACTCAAACACTCACACTCACACATGCACACACACACTCACACTCACACAAACCCACACTCACTCACACACACAAACACACACTCACACTCTCCTGTCCTGGTGCTCAGGGACCAGGGAGCATAGAGTGACCTGAGTCTTCACTGGCACCTGCTGTCATCGAGAGGGCATGTTCCCTGTGGAATAAATCGGTAGCAGCATTAAAGGAAGAAAGGCGTTTTGCTGTTTCCCATAATAAAACGGGGAGTTGTTTCTATCCCAGTGACACCCCTTGCAGGGTGCCTGAGTGATGGTCCTTTACGCTTTTATTTGAATGCTGACCAATTCGAATGCAAACCCTGCAGTCTGCTGTGTTTTGGTGACTGAGCAGTGCTGCCCGCTCCTGACCCTGGCCCACCTGGTGTTGGGGTCACCAGGGTTCGGGGAACCAGCTCCTCCAGGGTTACTCCTCTCCCTCCCATTCCTCAGATGATGCTCAGCGCCCTTCATCAGCAGCCCCCCCGGGGGTCCCACTCCACAGTTTCCAAAGCCCTCTCCATCCACCTCCTTTAAACTCTCTGACATCCCAGGGAAGCGGATTATCTCTGCAGTTCCCATTTTACATTTGGGAAACCCAGGGCTTGGAGAGGCCATGTGCACCACCTCATGAAGTTGTCCCTACCCCGGAGCTCACAGTCAACAGTTGGCAACCCTGTTCCCACCCTGTTCCACACTGGGGCTAGACTCCCCAGCCTTGCATGTATGTTTCTGTGGAGGAGGAGGAGGAGGGCCCAGGGAGGGCGAGAGTGGAGTTCGGAGCTGAGCATCCCTGCAGCACAGCCTTCAGGCCACCCCAAAGCGTTTCTGTGTGGGAACTGAGTGGGTGGGCCTGACTTCAGTGGGGTGGTGGGGGCTACACCTTGGTGCCAGGCACCCGACTCTCAGCCCACCTTCTCTCCCTGCTCAGTGCCAGTCAAGTGGGGTGGAAACTGCCAGAAGGACCGCCAGTCCCCCATCAACATCGTCACCACCAAGGCAAAGGTGGACAAAAAACTGGGACGCTTCTTCTTCTCTGGCTACGATAAGAAGCAAACGTGGACTGTCCAAAATAACGGGCACTCAGGTGGGCTGGATGGAGGCCCCAGGCAGGCCTGGGCACCCGAGTTCCCCAAGGACTGAGAGGATGGGGCTCCTCCCAGGAGGGTGTGCCAGACCCAGGCCCATCTGTGCTGTGAGGTGGCTGAAAATCCCATGGGGGAGGACAGCTTCCAGGAGGAGAGAGCACTCTAGTATGTTTTCGTTACTTTTGTCAGACCAGTCTGGGATGTGGGGGCAGGAAACGTTCCAGGAAGAAGGACATGTGCAAAGGCGCGGAGGCATGGAACAGCTCGGCGTGTTCAGAGGACTGCCAGGAGCTCTGTGTGGAGGAAGGACAGACAGTGAAGCCAGGCAGAGCCCAAGCAAGGCCCAGGGGCAGCTGGGCTGGGGCCCAAGGGCAGATCACCCAGGCCTGAGGAGTTTGGACATTACCCCGAGGACACCAGGGCACCACAGAGGAGGTGGACGCAGAGGAGGCACCAGGACAGAGCTGCAGTTTGGGGCAGTGGAGGGTGCAGGAGAGGGGGAGGCAGGCAGGGAGACCAAGGAGGAGGCCAGGGAAAGGTCCGGGGCTGTCCCACCCTGTCCCACCCCGCGCCACCCCTGCAGGCCAGAACCAGAGCTCATGAAGGTTGGGAGGCAGGAGACAATGTCCCATCTGGGTGAAGCTGGGATGAAGAGCTAGAGGAGGCTGAGGGAGGCTGGTTCGAGGACTCTGCCCCTTCTGTGCTCCCAGTGATGATGTTGCTGGAGAACAAGGCCAGCATTTCTGGAGGAGGACTGCCTGCCCCATACCAGGCCAAACAGTTGCACCTGCACTGGTCCGACTTGCCATATAAGGGCTCGGAGCACAGCCTCGATGGGGAGCACTTTGCCATGGAGGTGAGGGCCCCTTCCCGACTGGGACCTTGTCTGGGCTCTGGGCGCGCACCTGCCTTGGGCAAGGAGGGTAGTCCAGGCCCTTCATAGGTCCCCTTTTCACCCCTCCACCCCGACCAGATGCACATAGTACATGAGAAAGAGAAGGGGACATCGAGGAATGTGAAAGAGGCCCAGGACCCTGAAGACGAAATTGCGGTGCTGGCCTTTCTGGTGGAGGTGGGACTCCCATCCCCCACTTCCCGGGGAACCCGGGGCTGAGAGCTTCTTCTTAGGATTCAGAGACCTGGGACTCCAGCGAGGCAGGAGGGGGCGGGGAGACTCCAACTTCCGCCTCTGTTTCTGGGGTTGCATGTCCCCGGGCCAGGTGGGGAGCCCAGAGCCTCAATCCCAGAAGCTGCCTGGCCTTCCGCCCCCAGATCGGGAGAATGAACTGGCCACCACCACTGGCTCCCTGCAGACTTTCTCAAGACCCTTCCCTCCCTTTCCAGGCTGGAACCCAGGTGAACGAGGGCTTCCAGCCACTGGTGGAGGCACTGTCTAATATCCCCAAACCTGGTGAGTCAGGATGGGGGAGAAGGGCTTGGGGTGAGGGGGGGGATTCCTCCCACAAAGGAAGGGGTGGGTGTGCGGGGAGCTGGGCTCTCAGAGTGCAGGGGAAGAGGGGCTCCTTCTCCCACCCTCACTGACAGTGTCCTCTGCCCCTATCTCAGAGATGAGCACTACGATGGCAGAGAGCAGCCTGTTGGACCTGCTCCCCAAGGAGGAGAAACTGAGGCACTACTTCCGCTACCTGGGCTCACTCACCACACCGACCTGCGATGAGAAGGTCGTCTGGACTGTGTTCCGGGAGCCCATTCAGCTTCACAGAGAACAGGTGCACAGGGCCTGGGGCAGGGCATGGGCTCCCACTGCCTGGCTCCCCAGAAATTATCCCTCTGTCTGCCCTCAGAGGTCCCTCAGGATACAGGTGGGGAGCCCAGGTAACTGAAGTCCGTTGTTAATCATCGACATTCACTGAAGACAGGCAAGAAAAGCCTGAGCTGTTCCATCACCAGATTGGGGGCTAGACAGGAGGCAGGGGAAGGTGGAGTCATTCAGAAAATGGTGCTGGGGTTTCTATCATGAACG
CTCTTATTAACATCTTGCATCCATGTGGGACATTTGAGGTGCAGCCTTTTTTTCAGAGATGCTGGGTTCTATTGCCCTGAGGCAGAGCCCTCAGCCTGTCCCCAGAGATCAGGACTGTGCGGTTGAGGGGCAGGGGAGGAAGCCTGGCTGCTTTCCTCCTAGCGGGAGCTGTGAGACGCTAGCCAAGAAGGGATCTTAGTAACACAGGGTGAGACATTCTGGGGAGGGGCCGCCTAATCTCCTCCCTCATCTTGGATCTGGGAAGGCTGCCCGGTTGAACCTGACTCTATTGTCCCAGGAGCGGAGGCTGGGCCAAGTCCTCCTCTTCTCCTCTCACCAGCCTCTTTTCCAGGTTTGGGGTGGGGGAGGTAAGCGCGGAGGAGGCTGCTGGTGACCAAAGGATGGAGTATCCAAGCCAGCCCCATGTTAGAGATGAGTGGCCTCAGAGGGCTTCCCTGGAGGGCCAGTGGCTGCTTGGCCTGGCCCTGCCTGGGGAACAGAGCCCTATGCCAGCTGACCTGTTGATCAGCCCCTGCTTGGTTTTCAATTGAGTCTCTTTTTCTGGGCCCTCAATCCTGCTGCCAGGAACACTCCATCCCAGCCCAAGAGGGGCTCCAACCCCAGGGGTAGGCCCAGCCTCTGATCCTCCTGTGTGTGTGAGCAACAAGACACACGCACGCACACTTCACACCCTTCCTCTCTGCTCCAGAGTCACACTGGTGCTACGAGGTTCAAGCCGAGTCCTCCAACTACCCCTGCTTGGGTGAGTACAGCCAGTCCAGGGGACTGCTCTTTGTGCATGGTGGGCACCACGCAAGCCGAAATGGAGACCCCGGAAGAGTGGGAAGGGGAGGGGTGATGGTGGCTTCCCAGGCAGATATCAGTTCCCAGCATACACACACACACACACACACACACACTCTCTCTCTCTCTCTCACACACACACACACACAGATATACAAACACACACACTCACACAGAAACACACACACAACACACACACAAGCACACACTCAAACACTCACACTCACACATGCACACACACACTCACACTCACACAAACCCACACTCACTCACACACACAAACACACACTCACACTCTCCTGTCCTGGTGCTCAGGGACCAGGGAGCATAGAGTGACCTGAGTCTTCACTGGCACCTGCTGTCATCGAGAGGGCATGTTCCCTGTGGAATAAATCGGTAGCAGCATTAAAGGAAGAAAGGCGTTTTGCTGTTTCCCATAATAAAACGGGGAGTTGTTTCTATCCCAGTGACACCCCTTGCAGGGTGCCTGAGTGATGGTCCTTTACGCTTTTATTTGAATGCTGACCAATTCGAATGCAAACCCTGCAGTCTGCTGTGTTTTGGTGACTGAGCAGTGCTGCCCGCTCCTGACCCTGGCCCACCTGGTGTTGGGGTCACCAGGGTTCGGGGAACCAGCTCCTCCAGGGTTACTCCTCTCCCTCCCATTCCTCAGATGATGCTCAGCGCCCTTCATCAGCAGCCCCCCCGGGGGTCCCACTCCACAGTTTCCAAAGCCCTCTCCATCCACCTCCTTTAAACTCTCTGACATCCCAGGGAAGCGGATTATCTCTGCAGTTCCCATTTTACATTTGGGAAACCCAGGGCTTGGAGAGGCCATGTGCACCACCTCATGAAGTTGTCCCTACCCCGGAGCTCACAGTCAACAGTTGGCAACCCTGTTCCCACCCTGTTCCACACTGGGGCTAGACTCCCCAGCCTTGCATGTATGTTTCTGTGGAGGAGGAGGAGGAGGGCCCAGGGAGGGCGAGAGTGGAGTTCGGAGCTGAGCATCCCTGCAGCACAGCCTTCAGGCCACCCCAAAGCGTTTCTGTGTGGGAACTGAGTGGGTGGGCCTGACTTCAGTGGGGTGGTGGGGGCTACACCTTGGTGCCAGGCACCCGACTCTCAGCCCACCTTCTCTCCCTGCTCAGTGCCAGTCAAGTGGGGTGGAAACTGCCAGAAGGACCGCCAGTCCCCCATCAACATCGTCACCACCAAGGCAAAGGTGGACAAAAAACTGGGACACTTCTTCTTCTCTGGCTACGATAAGAAGCAAACGTGGACTGTCCAAAATAACGGGCACTCAGGTGGGCTGGATGGAGGCCCCAGGCAGGCCTGGGCACCCGAGTTCCCCAAGGACTGAGAGGATGGGGCTCCTCCCAGGAGGGTGTGCCAGACCCAGGCCCATCTGTGCTGTGAGGTGGCTGAAAATCCCATGGGGGAGGACAGCTTCCAGGAGGAGAGAGCACTCTAGTATGTTTTCGTTACTTTTGTCAGACCAGTCTGGGATGTGGGGGCAGGAAACGTTCCAGGAAGAAGGACATGTGCAAAGGCGCGGAGGCATGGAACAGCTCGGCGTGTTCAGAGGACTGCCAGGAGCTCTGTGTGGAGGAAGGACAGACAGTGAAGCCAGGCAGAGCCCAAGCAAGGCCCAGGGGCAGCTGGGCTGGGGCCCAAGGGCAGATCACCCAGGCCTGAGGAGTTTGGACATTACCCCGAGGACACCAGGGCACCACAGAGGAGGTGGACGCAGAGGAGGCACCAGGACAGAGCTGCAGTTTGGGGCAGTGGAGGGTGCAGGAGAGGGGGAGGCAGGCAGGGAGACCAAGGAGGAGGCCAGGGAAAGGTCCGGGGCTGTCCCACCCTGTCCCACCCCGCGCCACCCCTGCAGGCCAGAACCAGAGCTCATGAAGGTTGGGAGGCAGGAGACAATGTCCCATCTGGGTGAAGCTGGGATGAAGAGCTAGAGGAGGCTGAGGGAGGCTGGTTCGAGGACTCTGCCCCTTCTGTGCTCCCAGTGATGATGTTGCTGGAGAACAAGGCCAGCATTTCTGGAGGAGGACTGCCTGCCCCATACCAGGCCAAACAGTTGCACCTGCACTGGTCCGACTTGCCATATAAGGGCTCGGAGCACAGCCTCGATGGGGAGCACTTTGCCATGGAGGTGAGGGCCCCTTCCCGACTGGGACCTTGTCTGGGCTCTGGGCGCGCACCTGCCTTGGGCAAGGAGGGTAGTCCAGGCCCTTCATAGGTCCCCTTTTCACCCCTCCACCCCGACCAGATGCACATAGTACATGAGAAAGAGAAGGGGACATCGAGGAATGTGAAAGAGGCCCAGGACCCTGAAGACGAAATTGCGGTGCTGGCCTTTCTGGTGGAGGTGGGACTCCCATCCCCCACTTCCCGGGGAACCCGGGGCTGAGAGCTTCTTCTTAGGATTCAGAGACCTGGGACTCCAGCGAGGCAGGAGGGGGCGGGGAGACTCCAACTTCCGCCTCTGTTTCTGGGGTTGCATGTCCCCGGGCCAGGTGGGGAGCCCAGAGCCTCAATCCCAGAAGCTGCCTGGCCTTCCGCCCCCAGATCGGGAGAATGAACTGGCCACCACCACTGGCTCCCTGCAGACTTTCTCAAGACCCTTCCCTCCCTTTCCAGGCTGGAACCCAGGTGAACGAGGGCTTCCAGCCACTGGTGGAGGCACTGTCTAATATCCCCAAACCTGGTGAGTCAGGATGGGGGAGAAGGGCTTGGGGTGAGGGGGGGGATTCCTCCCACAAAGGAAGGGGTGGGTGTGCGGGGAGCTGGGCTCTCAGAGTGCAGGGGAAGAGGGGCTCCTTCTCCCACCCTCACTGACAGTGTCCTCTGCCCCTATCTCAGAGATGAGCACTACGATGGCAGAGAGCAGCCTGTTGGACCTGCTCCCCAAGGAGGAGAAACTGAGGCACTACTTCCGCTACCTGGGCTCACTCACCACACCGACCTGCGATGAGAAGGTCGTCTGGACTGTGTTCCGGGAGCCCATTCAGCTTCACAGAGAACAGGTGCACAGGGCCTGGGGCAGGGCATGGGCTCCCACTGCCTGGCTCCCCAGAAATTATCCCTCTGTCTGCCCTCAGAGGTCCCTCAGGATACAGGTGGGGAGCCCAGGTAACTGAAGTCCGTTGTTAATCATCGACATTCACTGAAGACAGGCAAGAAAAGCCTGAGCTGTTCCATCACCAGATTGGGGGCTAGACAGGAGGCAGGGGAAGGTGGAGTCATTCAGAAAATGGTGCTGGGGTTTCTATCATGAACG
Task1_train_25237
This mutation occurs in TBX4 (T-box transcription factor 4) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autosomal recessive amelia
AGGGGGAGGTGAGGCAGCTGCTGCCCTCCCTGCTTCAGCTGTTGGCCCACCAGGAGAGAGGCAGGGCCGGGAAAGGGTGGTGCAAGATCCAGCTGCGCCCCCAGGCCCCATAGGGGGGCTGGTAAGCAGGAGGCAGGGTTGGGTTCCTGAGCCCCTCACTTCCCCCATTCCTGGAGAGGGGGTGGGGTGGGTATTTGAAAATGCTTTCAATTGACATCTGAGACAAATTCTTCCACAAGGTTTATAAGTCCCTAGACTTGCAGCTAGAACTTCCCTCCTCCCTCCAGGCACGCACACATCCACACATGCGCACTTGCACACCGCTCACATGCGCCTGGGCACACACACCCCACATCCCCACGTCCCCGCCCTGCAGTGCTTGCACAGGCCTCTCCTCCAGCAAGAGAGGGGCACAGGCGGGGCTGGGTGGGGCGTGGGCTGGCAAGGAAGTGAACCCTCCACCTCGGTCGGGGTCCTCGCCTGGGCTTAGGGCCCGCCAGCTTATAGAGGCCTTGATCCTTTCTGGAAGCCCTGTTCTGTCCAGGTAAGCTGGTGCCCCTGGTGACAAAATAGGGGCCTCTGATCAGCTGTTTGTGGCATCTTGGACAGCTTCTCCAGGGTCCCGTACTGTCTTGGGTTAGTGAGAGGCAGAGAACCACCTGATGGTTGTCCCAGAGTGGACCAGCCGGGCAGTGGCACAGCTCAGTGGGGCTTAGTGTCTTCACTGTGTCTTCAGCTAGGTTTGGATCCTGTTTCTCTTGGGGAACACCTTTGTGGAAGATCAGCTGGGGTGGGGGATGGAGTCTGAGGAGGATCGTGGGAAGTTCCGTTCTTCCCTCTGGTGAAGTCAGGGACCTAGTGACTAGGGGAGGGAGCTGTGCCCAGAGCGTTTGTGTATGCGCTGTGCTGTTGTGTGTGCGTATGTGCTGAGGGGTGTGCGGAAGCCCCCTCTAGAATGTGCCTCGAACCTCAGGGCCCTTGACAGCCTCAGCATGGGCTGCAGGAAATGACAAACTTTCTGGGTTTTGGTGAATCCATTTTCACAGAAGTAGGTCATACCACTTCTCCATTTACTTTGCTGAGGGAGGAGTGCAGCAGGGGTCCGTGGTAATTCACGCAGCAATCTATGAGATAGGTGGTAATGTTATCCTCATTTTAGAGATAAGGAAACCAAGGCACAGAGAGGTTCAAGCAAGTTGCCTAAGGCTTATCAGTGGGGTCCAGGCTGTGACCATGGCAGGTGGTTTCAGAATCCATGCCCTCTCTTATCCATGAGGCTCCTGGACCGACTTTCCCCTGATACTCAGGGTGCACAGGTCCAGGTGAGGTGTTCACAGGGAGAAGTACCCCCGATAGACACACTGGAAGAACCCAAACCTAGCAGGGTTTTGGACAGCAGTCTCCTGTTTTCCTGCAAGCTGGTTTTAGGCCTAAGGATTTCCACAGAGGCATGACCCAGAGGAGGCAGCTCATTATTTATGGAAGCAGCTGACGGGGGTTTCCGTCCCCCTATAACTGCACCCCAGAACTTCACTTGTGTGTGGGCTGGCAAAGGACAGGAGGGAAATTAAGGCAGCAAGGTTGGCGTCAGAATCTGCTCCCACAATCCTGACTGGGGTCTCTGTGCTTCAGCTGCTCATGGGCACTAGCCCCAAGTCTTAGGGGATTATGGGGGAGGGGATAAGTGAATTTGGGAAATGGTGTAAACTCTCCTCCTAGACACAGACTGATAGCTGCAGGGGCTCAGAGACAGCAGCCAGTGCCACCTTTTCACTGTGCAGCTCGGGCAGAGGGGGAAGTGAGTTGTGCAGGTCACACAGCTGTGACCAATGCCAGGATCGCTGGCCAAAAGGGCAGCATCTGTTAGCGGCCTTCTGCCCCCTTGCTCACTCTGTTCCATCTCTCCTGGTGCTCTGTCCACACGCTCCGCCTCACCCCTCGGCTCCCCCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGTCACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCATCGCTACAAGTTCTGTGACAACAAATGGTAAGTGGACCCTGACCGCATCACCCACGTTCCCTCAACTGCCCACTTGCCACGCCCCCACCTAGTGTTTTGTCCGGGGGATTTCTTAGCTACCTGAGTGACTGCCCAGGTCTGCAGGCTGGAGTCCACTGCCTGGAACTGGCTGTGCGGAGGCTGAGGTGGTCAGCGAATGTCTGCATGCCTGCTTCAGGTGGGGCTGGGTTTGGGCTGAAAAGCAGCTGCGTGTTTGGGAGTTTGGTGGATCGCAAGGGTCTGTACTCTCCTTATGGCCGTGGGTAGTCAGGACTTGGTAACTATGCTGTCAGGTGACAGACAAATCATTAACACTGGCCAGATTTAGACTGTCAGTGCTTCACTGTGGGGAAGATGGGAGCAGTTCTCTTGGGGACTTTAAGGGCAAGCCATTACCTGCTGTGTGGGGGCACTCGCCTGTTTCTCCATGTTCTCCTTGGCTTCAGGCCCCTCCAGCCATCCAGACGAAGTGAGGCTCCACCAGGGGGTTGGTGGATGGGACCCTTTGGCAAGGGGCTGGGAGACATAGAGAGGTAAAGGGACAAAACCAAAAGGGGCCAGGTAAATAAACGCTGGGCTACCTTTCATGAAGCCAACTCCTTAGTCCCTGACTGCCTGGGAGCTCGGAACAGCGCTCCAGGAGCGAGCAGCCAGCCAGGACACTGGGCTCCGTGGCAAGTGAGCCACAGAGCTGGAGAGATTGGGCCGAGCAGGCAGGATTTGGTGGCCACGTCCTGGCAAGGGCCATGTTTCTGTTTCTTCTCCCTCTCTGGGCTAGAACTCAGAGCAGGCTCTGGCTGCGGGGAGAGCTACCAATTAATTTCTTACCATTGTTTTGGGGACAAGCCTTTTGAGAGTTGTCTAGGTCCTCTGAGAAGCTCCCTCTAAATAATATAATTTATAACATGTGACAATCATAATCATACCAGGTGTAGCGGCTCATATCTGTAATCCCAGCTACTCTGGAGGCAGAGGCAGGAGGATGACTTGAAGGTCAGGAGTTTGAGACCAGCCTGGGTAATATAGTAAGATCCTTGTCTCTGTAAAAAATGTAAAAAGTTAACTGGGCATGGAGGTGCATGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAATTGGAGGCTGCAGGGAGCTATGATCATACCACTAGCATGGGTGACAGAGTGAGAACCTGTCTCTTAAAAAGAAAAAAAAATTTTAAATCATAAGTGTAAATATACATAGAAGTGCCTAAATCTCCTCACAATATCTTTGTGATTAGCCCCAGTCCTTCAATTAAATGATCCCATTTCCCTGTAACCTCCCTTTTCTTTTCTACTGCAGTAAAATAAAGGAGATTCAGAACTGCTCTCTCCTCCTCAGCATTCTCTCCTCTGAACCTCACACTCCTACCCTTGAAGTACTAATTTGACAATGTGGTGGGACCAGCAGCTATTTTTTCCTCTGGTCAATGGGGGTTTGCTCCAAGAGGGGACGGGGAATCTGGCCTCACCAGCCCCTGGAGTAATCACCTGCTCTTATCTGCTCTGTTGGCAGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAGGAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTTCCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATGTAAGCATGGGGGCTGCCTGGCCCCAGGAGGCAAGTCTGGGGCAGTTTTAGGGGTGGGACAGGCCAGGATGGGGATAGGGAGAATCCACTCCGGGATCCAGCTCCAGGCTTTGGCGCTCACTGACCAGTTTAGGGAAGGAGCTCAAGCCTCTGAGGCCTGCAGAGAGCTGGACTTCCTTCCCGGCCACTTACTGGCTGGGTAACTCTGGACAATCGTCTCAGCCTTTTTGAGCCTCACTTTCCTTGTCTAGAAAATGGAGATGACCACATGTACCTTTCATGGCTGTGAGACTTAAATGAGAGGGT
AGGGGGAGGTGAGGCAGCTGCTGCCCTCCCTGCTTCAGCTGTTGGCCCACCAGGAGAGAGGCAGGGCCGGGAAAGGGTGGTGCAAGATCCAGCTGCGCCCCCAGGCCCCATAGGGGGGCTGGTAAGCAGGAGGCAGGGTTGGGTTCCTGAGCCCCTCACTTCCCCCATTCCTGGAGAGGGGGTGGGGTGGGTATTTGAAAATGCTTTCAATTGACATCTGAGACAAATTCTTCCACAAGGTTTATAAGTCCCTAGACTTGCAGCTAGAACTTCCCTCCTCCCTCCAGGCACGCACACATCCACACATGCGCACTTGCACACCGCTCACATGCGCCTGGGCACACACACCCCACATCCCCACGTCCCCGCCCTGCAGTGCTTGCACAGGCCTCTCCTCCAGCAAGAGAGGGGCACAGGCGGGGCTGGGTGGGGCGTGGGCTGGCAAGGAAGTGAACCCTCCACCTCGGTCGGGGTCCTCGCCTGGGCTTAGGGCCCGCCAGCTTATAGAGGCCTTGATCCTTTCTGGAAGCCCTGTTCTGTCCAGGTAAGCTGGTGCCCCTGGTGACAAAATAGGGGCCTCTGATCAGCTGTTTGTGGCATCTTGGACAGCTTCTCCAGGGTCCCGTACTGTCTTGGGTTAGTGAGAGGCAGAGAACCACCTGATGGTTGTCCCAGAGTGGACCAGCCGGGCAGTGGCACAGCTCAGTGGGGCTTAGTGTCTTCACTGTGTCTTCAGCTAGGTTTGGATCCTGTTTCTCTTGGGGAACACCTTTGTGGAAGATCAGCTGGGGTGGGGGATGGAGTCTGAGGAGGATCGTGGGAAGTTCCGTTCTTCCCTCTGGTGAAGTCAGGGACCTAGTGACTAGGGGAGGGAGCTGTGCCCAGAGCGTTTGTGTATGCGCTGTGCTGTTGTGTGTGCGTATGTGCTGAGGGGTGTGCGGAAGCCCCCTCTAGAATGTGCCTCGAACCTCAGGGCCCTTGACAGCCTCAGCATGGGCTGCAGGAAATGACAAACTTTCTGGGTTTTGGTGAATCCATTTTCACAGAAGTAGGTCATACCACTTCTCCATTTACTTTGCTGAGGGAGGAGTGCAGCAGGGGTCCGTGGTAATTCACGCAGCAATCTATGAGATAGGTGGTAATGTTATCCTCATTTTAGAGATAAGGAAACCAAGGCACAGAGAGGTTCAAGCAAGTTGCCTAAGGCTTATCAGTGGGGTCCAGGCTGTGACCATGGCAGGTGGTTTCAGAATCCATGCCCTCTCTTATCCATGAGGCTCCTGGACCGACTTTCCCCTGATACTCAGGGTGCACAGGTCCAGGTGAGGTGTTCACAGGGAGAAGTACCCCCGATAGACACACTGGAAGAACCCAAACCTAGCAGGGTTTTGGACAGCAGTCTCCTGTTTTCCTGCAAGCTGGTTTTAGGCCTAAGGATTTCCACAGAGGCATGACCCAGAGGAGGCAGCTCATTATTTATGGAAGCAGCTGACGGGGGTTTCCGTCCCCCTATAACTGCACCCCAGAACTTCACTTGTGTGTGGGCTGGCAAAGGACAGGAGGGAAATTAAGGCAGCAAGGTTGGCGTCAGAATCTGCTCCCACAATCCTGACTGGGGTCTCTGTGCTTCAGCTGCTCATGGGCACTAGCCCCAAGTCTTAGGGGATTATGGGGGAGGGGATAAGTGAATTTGGGAAATGGTGTAAACTCTCCTCCTAGACACAGACTGATAGCTGCAGGGGCTCAGAGACAGCAGCCAGTGCCACCTTTTCACTGTGCAGCTCGGGCAGAGGGGGAAGTGAGTTGTGCAGGTCACACAGCTGTGACCAATGCCAGGATCGCTGGCCAAAAGGGCAGCATCTGTTAGCGGCCTTCTGCCCCCTTGCTCACTCTGTTCCATCTCTCCTGGTGCTCTGTCCACACGCTCCGCCTCACCCCTCGGCTCCCCCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGTCACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCATCGCAACAAGTTCTGTGACAACAAATGGTAAGTGGACCCTGACCGCATCACCCACGTTCCCTCAACTGCCCACTTGCCACGCCCCCACCTAGTGTTTTGTCCGGGGGATTTCTTAGCTACCTGAGTGACTGCCCAGGTCTGCAGGCTGGAGTCCACTGCCTGGAACTGGCTGTGCGGAGGCTGAGGTGGTCAGCGAATGTCTGCATGCCTGCTTCAGGTGGGGCTGGGTTTGGGCTGAAAAGCAGCTGCGTGTTTGGGAGTTTGGTGGATCGCAAGGGTCTGTACTCTCCTTATGGCCGTGGGTAGTCAGGACTTGGTAACTATGCTGTCAGGTGACAGACAAATCATTAACACTGGCCAGATTTAGACTGTCAGTGCTTCACTGTGGGGAAGATGGGAGCAGTTCTCTTGGGGACTTTAAGGGCAAGCCATTACCTGCTGTGTGGGGGCACTCGCCTGTTTCTCCATGTTCTCCTTGGCTTCAGGCCCCTCCAGCCATCCAGACGAAGTGAGGCTCCACCAGGGGGTTGGTGGATGGGACCCTTTGGCAAGGGGCTGGGAGACATAGAGAGGTAAAGGGACAAAACCAAAAGGGGCCAGGTAAATAAACGCTGGGCTACCTTTCATGAAGCCAACTCCTTAGTCCCTGACTGCCTGGGAGCTCGGAACAGCGCTCCAGGAGCGAGCAGCCAGCCAGGACACTGGGCTCCGTGGCAAGTGAGCCACAGAGCTGGAGAGATTGGGCCGAGCAGGCAGGATTTGGTGGCCACGTCCTGGCAAGGGCCATGTTTCTGTTTCTTCTCCCTCTCTGGGCTAGAACTCAGAGCAGGCTCTGGCTGCGGGGAGAGCTACCAATTAATTTCTTACCATTGTTTTGGGGACAAGCCTTTTGAGAGTTGTCTAGGTCCTCTGAGAAGCTCCCTCTAAATAATATAATTTATAACATGTGACAATCATAATCATACCAGGTGTAGCGGCTCATATCTGTAATCCCAGCTACTCTGGAGGCAGAGGCAGGAGGATGACTTGAAGGTCAGGAGTTTGAGACCAGCCTGGGTAATATAGTAAGATCCTTGTCTCTGTAAAAAATGTAAAAAGTTAACTGGGCATGGAGGTGCATGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAATTGGAGGCTGCAGGGAGCTATGATCATACCACTAGCATGGGTGACAGAGTGAGAACCTGTCTCTTAAAAAGAAAAAAAAATTTTAAATCATAAGTGTAAATATACATAGAAGTGCCTAAATCTCCTCACAATATCTTTGTGATTAGCCCCAGTCCTTCAATTAAATGATCCCATTTCCCTGTAACCTCCCTTTTCTTTTCTACTGCAGTAAAATAAAGGAGATTCAGAACTGCTCTCTCCTCCTCAGCATTCTCTCCTCTGAACCTCACACTCCTACCCTTGAAGTACTAATTTGACAATGTGGTGGGACCAGCAGCTATTTTTTCCTCTGGTCAATGGGGGTTTGCTCCAAGAGGGGACGGGGAATCTGGCCTCACCAGCCCCTGGAGTAATCACCTGCTCTTATCTGCTCTGTTGGCAGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCCAGGAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTTCCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCCTTTGGCCATGTAAGCATGGGGGCTGCCTGGCCCCAGGAGGCAAGTCTGGGGCAGTTTTAGGGGTGGGACAGGCCAGGATGGGGATAGGGAGAATCCACTCCGGGATCCAGCTCCAGGCTTTGGCGCTCACTGACCAGTTTAGGGAAGGAGCTCAAGCCTCTGAGGCCTGCAGAGAGCTGGACTTCCTTCCCGGCCACTTACTGGCTGGGTAACTCTGGACAATCGTCTCAGCCTTTTTGAGCCTCACTTTCCTTGTCTAGAAAATGGAGATGACCACATGTACCTTTCATGGCTGTGAGACTTAAATGAGAGGGT
Task1_train_25238
A mutation in TBX4 (T-box transcription factor 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Coxopodopatellar syndrome
AGAGGTTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGGCACAGAGAAGCCCAGTGACTTGTCTGAGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCAT
AGAGGTTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGGCACAGAGAAGCCCAGTGACTTGTCTGAGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGTATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCAT
Task1_train_25239
A variant has been detected on Chromosome 17 in TBX4 (T-box transcription factor 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
TTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGGCACAGAGAAGCCCAGTGACTTGTCTGAGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGA
TTGCAGTGAGCCAAGATTGCGGCACTGCAGTCCAGCCTGGGCAACAAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGGAAAGAAAAGAAATGCATGAACAAATGAGCAATGTGACAAAAAAAGTTACAGTGGGACATTTTCCTCAGCTTTTTCCCTCTCTCTCATCCTGCAAAACCCAAGTATTTCTAGAAGAGGCAGGTCATGTGTAAGAAGGGTATTGAGAAGAGGTGAGGCTGGAGGGGGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGGCACAGAGAAGCCCAGTGACTTGTCTGAGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCTGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGA
Task1_train_25240
This variant impacts the gene TBX4 (T-box transcription factor 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Pulmonary hypertension, primary, 1
AGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGATCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCCGGATGAGTGTTCTTAAATTGGCTCAGTGGGCTGCTCCCCAAACCCTCAGGCCTGGGTCAGCCCTGGATCCCAGGGGAGGTCATGCCACTCCAGATACTTAGGCCCTCCTTGTGGAGGATGTCGAAAGGCACACATACATGATTTGTGGCATCTGATGTCATCTTTCCCCAGAGTATCTGCTTAGCCTGAAAAGTATGTCACCTTTTTCACTTATTATCAGTTCTATTTCTTAATTTGGTAGACACTGTGGTGTTGGAATCTGT
AGATCAAACAGTGACTCGGTGGCACCCTGGACTTTTGCTGACAGCTCACAATTCCACCTGCTACACTGTGCTGAGTTCACAGTGGGCTTTGACAGTGTTAAGGGCTGACTCAAGTTCTCCATTACCACAGTGAATCAACTGGTCACATCAAGGAGGGCCTGGAGCTGGGCATTAGTGCTGGTGCAGAGAGGCTAAGTAGGGCTGGGGTGGGGAGAGTTTGGGGCCCAGGGGCCTGGTTCTTCACTTGGGAGCTCCAGTCCTGGTCGGTAGGCCCCGGATCCTGGGCTTTGAGGAGAATGAGAAAAACCAGGCCAGGGCCAGAAGAATGAGGTCAAGGGCCTGGGGCTTGCGGATGGGGACCTGGAGCTCAGCATGAGACCCTTCTCTTCCAGATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGGTACAGCCACTGCCCCACTGCCCCACAGCCCCACTTAACACCACCCTGCGTTCTCTTCCACCAGGCAGAGAGGCAGAGTGTGAAGCCAGAGTCCCAGCAGGGCTTGGGCAGGCCCAGTGCAGGGACCTCAGAAGCCTAGAGTCCCTCGGAGCCGCGAGCAAATCGAATGATGAACAGAAAAGGACCCTAGATATGTCCATCTCCAGCACAGAGGAATTACGGTCTCTGTGTTTTGGGGAATGGAGAAAATTGGCAACTGTAAAAACCAGGAGCTTGGAGTCTGCCTTGTGGTTTGAGCATTGGGCCCTTTCATTCCACAATGTTCTTTCTCCTGGTTCATCTCCTGGTGCCTTCAGAGACAGGGGTAGGGAATGGGGATAGGAGCCCTGGGGTGCTGTCAGCTGGGGTGTGGAAGCAGAGCCTGAGCGGAGGCCCTTCCCAGGCTGTGATAGGAGGTGCCCCAGCCACCTCCCACACTCACTACTGCCCTCCCCAGCCCGGCCACCCCCACTGCATCCCAGTCACTGACAGCCGTGCTCTGCCGCCCGTCTGCTTTCCACAGTATGCACACAGGGACTGGCAAGGTGGGCAGGGGTCACTGGGGAAGGGCCGTGGCTGTGGTGGATTTTAGGCAGAAGAGTGACAGAGTCGGAACTGCATCTAGAACGGTCACTCAGAGCCTGATGTAGTTGCACAGACTCAGGCAGCAGGCCCGGGATGCTCACTGGGAAGATGTTACAGGTCCCCAGGAGAGACCCATGGGGACAGAAGCCCGGCAGTGCGGAGGGCTGGGGAGCAGGAGAAAGAATCAGAGGGTGGAGAGCAAGGAGTAGGGAGCCAGGGACAAACCAGGTGTGAATGGCAAGGCCCACTTCCCCAGACCTGCCCCAGTTCTGCCTGTGCCTGGGGTTGGGGAGGAGGGAAGGCCAGAGGCCAGTCCAGTCCCACCCTCCTCCCCAAGGAGGGTAGTGAGAAGCGGTGAGGCTGGAGAGCGACCCCTGAGGGAGGGAGGTTACATGTTATGATCCCATTTACAAATGTGGAAACTGAGACACATTTGTGTGCCTCACACTGGTGACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGGTGGGGCTGCGTAGCCTGGGGGTGGGGCGGGCAGATGGGATTCAGGCACGTGGCCTCTGTGACCCTCGATGTATCTTCACTCTCTTCCTGTCTCTCCTCCTGTCCTCCCCACCCCTTCAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATCTCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGTACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGGTAGGGCTCTCCTGGTCTAGAAGCCCTAGAGGGTAAGAGGAGCGGTGAGGTTCTCCCCGAAACCACTCTGCAGCGCCCCCCCCCCCAACACACACACACTCATCTCGTGCTTGTGTGGCCTGGGAGAGTGGGCCTGAAGGGTTAGGGATCACAGCTGGGCGCAGGGCCATCTTTTCCAGTGCAGGGATGCTGGTTCTCATCTCTCATGCTGCCTTTGGAACCCTCACAGACAGCTTGTAGCCCCGGTGTCCCCAGACACCTTTCCAAGTGTTGCTTTGCAGTCACTGCTCTGAGAGCCTCGTGGGGTGAGCTGGGCTCTGCCTGGAAGTGCAGGAAGAGGCTGACACTTCCCAGTCCAGAGGTTTTGGGATTGGGGCTGTTGTTTGTCAAAGCAACCTCAATTCCAGAACAGGGAGGACTTGGTGTCTCACGTGCAGGGCCTTCCACCCAATCATTCCTTCCAGGATCTGCAGAGGCTGCTTGAGAGTTGAGATGAGCTATTGTGGATGTAGGTGGGGGCTGGGAAGACAAGCCACAGCACCCTCTGTGCCAGGCCTCTTCGTAAAGAGGAGGAGCCCGGAGCTGGGCACCATCACATCTGTGCTCTGTGCCAGGTCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGCATTATGTGAAATTAAAGTTTTAGTGTCCATAAAGTTTTATTGGAACACAGCCATACCCATTTACTTACAGGTTGTCTACGGCTGCTTTCATGGTACAACGGCAGAGTTTCGTAGTTGCAACAGATACCCTGCGGCCCACAAAGCCTAAGATATTTACTATCTGGTCCTTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGATCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCCGGATGAGTGTTCTTAAATTGGCTCAGTGGGCTGCTCCCCAAACCCTCAGGCCTGGGTCAGCCCTGGATCCCAGGGGAGGTCATGCCACTCCAGATACTTAGGCCCTCCTTGTGGAGGATGTCGAAAGGCACACATACATGATTTGTGGCATCTGATGTCATCTTTCCCCAGAGTATCTGCTTAGCCTGAAAAGTATGTCACCTTTTTCACTTATTATCAGTTCTATTTCTTAATTTGGTAGACACTGTGGTGTTGGAATCTGT
Task1_train_25241
Given this variant in gene TBX4 (T-box transcription factor 4) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Coxopodopatellar syndrome
TTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGATCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCCGGATGAGTGTTCTTAAATTGGCTCAGTGGGCTGCTCCCCAAACCCTCAGGCCTGGGTCAGCCCTGGATCCCAGGGGAGGTCATGCCACTCCAGATACTTAGGCCCTCCTTGTGGAGGATGTCGAAAGGCACACATACATGATTTGTGGCATCTGATGTCATCTTTCCCCAGAGTATCTGCTTAGCCTGAAAAGTATGTCACCTTTTTCACTTATTATCAGTTCTATTTCTTAATTTGGTAGACACTGTGGTGTTGGAATCTGTGTAGTAAAAATCTGATGGTTCTTCTTTAAACACATGTGAGGTTAGTTCATCTTCTAAAAGCAACAGAAACATGCCTACAAGTGGCTTTGGCTCCCTGAGGTCTTCCTGGGAGCTGAGGATGGAGGCAGAAACCTCATGGCCTTAATTTTCTGGCTACTTCAGACAGATGTGGCCTCTGGGCATGGGCTGGCCTGGCAAGTGCCTCTACTTTCCTTGGCCAGGGAGGGCCTAGCCTGAGAATGCCACTGCACATCAGGGCCTCTCACTCTGCAAGAGTCAGGCTGGCGAAGGATCAAAGCCGAGTGCTGCCTGGCTAAGCCTGGCCCTCAGTGTCCGGTGATGTGGTGTCCCCCGTGGCCTCTGAGTAGGGTCCGTAATCTGACCACTTCTTGGTGCCTGCAACCCTATAAAAGCCGTGGCTGATTGAAATGGCTCTGGGAGTGCCATGGCAACATGGGGAGGGCGGGCGCAGAGGGACAAGGACAGGCTGTCCCAGCATCCAACAGGGTGCTCTGGGGCCTGGGCTGGTGGAAATGGTTCTTCCTGAATGTTACTTTGTCTTTCAGCAGACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTCTTCGGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCCTCCTACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAGATTGCCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGGACTTCAGTGTCGCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAGCCCTTCCCCACGCACTTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCTCAGAGCTCCCAGCCACCAGGAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCTCAGGTCCGAGAGCGGGGGCCCAGCGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTGTGAGAGGAAGCCACCCTCGCCACATCTAAATGCTGCCAATGAGTTTCTCTACTCTCAAACCTTCTCCTTGTCCCGAGAATCTTCCTTACAGTACCATTCAGGAATGGGGACTGTGGAGAACTGGACTGACGGATGACTCTCACGTCTCCTCCATAGCCCCGGGACCGTGTTGCTCCAGTATTAACCTCTGTGGGTGGCCTGCACTCTACCAAGAAACACAGGAAGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACGAGCATGTATGTATTTGGAGAGCATCCATCTTCTGACATACAACTGAGGTCATGACAAGGAAAAAAAACACCACATTTATCTAAGAAGTGATTTTGGCTGCAGGACCTGGGTCTATTGTTATCTGACATCTCTTGACATGCCCGTGGGTGGGATGGGAGTGGAGGGTTCATATGAGTTATTGAGAGGGTTTTATAATGGTTGATTTACTCAGGGGCCAGGTGGGGAGTTCTCTCCCATGGGGAAAGATTCTCACTGCTGGGGTGGGAAGATTCTCGCTGCTGGGGTGTGAGGACTCTGTGCACACCTTAGAGTTCCTGGCCTTCTCTTTGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGCAGGAGGCCCACTCCTTTGACTTCTGGAGAGTCTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAAGCCACAATGTGTACTTTGATAGTACAGCTGGCTGCTCAGTGAGTGGCCTAGACATTGATGACTGGAGCTCTGAGGTCTGAGGGATGACGTTCGGAAAGGGTCATGGGCTAAATGTCACCTGAGGGGTATTTTTAAAGGGTTTTTTTTTCCCTTCAAGAGGAGGGAAAATGCAACCAGTAGCATCTCTGTCATCATTCAGATTTTGTAATAAAGTACAGAGCCCTTCCCCCTAGGTCCCCAACATACAGTCTCTCACTCTGGTGTGTGGAGAGTCAGCCTCCCAGGCACCATACCATCTGCATCCTATGATGATGGGCAATTATGAAACACGCCTCAGCTGGCATCATCCCCAGGAGGCCACACTGGAGCTGATGTCTGGCATCTCCAGGGCCTGTTCTGCTCTCAGAAAATCTACGCTTCTGGAGCGAGAAAGGCCAACAGAAATAAAGATAGTTGAAAAAAATTTGTTTCTTCCAGTAAATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGAATTCTCCAGTGTGGCGCTCACAAAGTCCTCAGCCCTGCGTTTTAGCATTGAATACCACCAGGCCATCAGTGTGGCTGGGGTGAACTCTCCATCAAACTTGGGAAATCACTAAACTCTTTGCATGCTGAATAGCTATTTATATATTATATAAATAAATAAATATATATATTATATATCGCTCTCTCTCACAAATGCAGGCCACATGTCAAATTCAGCTTTGCTTTCTACAAATGAATGAACTTAATAAAAATAAACGTTGGAGGGGGTATTTGGAAAGACATCTATTTAAATTTTTATTACATGTTTGATATTAAAAACTAAGAATGGTTTAGATAAAACATATAAATAAATATATATATATATATATATATATATAAACACACACACACTACAGATAAGGCTTTTTTAGAAAACACATTAGCTAACAGGTGATATGGAACTTCAAGTGTTTTGTTATATAGCATGGATGTTTTATTTTGCATATCGGAACATAAAGCCATTTTACAACTGTGAAGTGTGTGGATGCTCTTTATTACTGACTTGTCATTTCTTGGCTCTGCAACGGCCTCTGCCTCTTTTTTGCTGGTATTCTTTTTCTCAAGTGTCAGGTAAGGCCCTCAGTACCTCTGAACATGTGTACCGTGGAGCCTCTGAGCTCACAGTGAAGTCACCTAGGACCACAGAGCAATTGCACCTTTGATCTCATGCTACTCCCTGGGTTATGAATCTGGACTCCAGGGTCCACAAAGACCCCAGAAGGGCGGGCAGGCAGTAAAGCAGGAATCTGTCTCCTTTCAGCAGTCAACACATAAGCTGGCCATTTGGGGGAAGTGGTCTCGTAAGTAGGGAATTCCTGGTGGGATTTATGCAGCTGCTTCAGAAAAGGAACTGAAGAGCAGGTTTGAGTCAGTGCGGGGGGCT
TTTGCAGAAAAAGTTTGCCCAGTCTTGACCTAGAGTGAGTAGGCCACCTGCCAGGATCAAGAGCTTAGCTCAGGGAGAAGAGAGGGATTTGGAGAGAAGACGGAGAATCGGGCTGAGTGAGGGGCAAAGGAGAGAGCTGGGCAAGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGTATGCCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGATCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCCGGATGAGTGTTCTTAAATTGGCTCAGTGGGCTGCTCCCCAAACCCTCAGGCCTGGGTCAGCCCTGGATCCCAGGGGAGGTCATGCCACTCCAGATACTTAGGCCCTCCTTGTGGAGGATGTCGAAAGGCACACATACATGATTTGTGGCATCTGATGTCATCTTTCCCCAGAGTATCTGCTTAGCCTGAAAAGTATGTCACCTTTTTCACTTATTATCAGTTCTATTTCTTAATTTGGTAGACACTGTGGTGTTGGAATCTGTGTAGTAAAAATCTGATGGTTCTTCTTTAAACACATGTGAGGTTAGTTCATCTTCTAAAAGCAACAGAAACATGCCTACAAGTGGCTTTGGCTCCCTGAGGTCTTCCTGGGAGCTGAGGATGGAGGCAGAAACCTCATGGCCTTAATTTTCTGGCTACTTCAGACAGATGTGGCCTCTGGGCATGGGCTGGCCTGGCAAGTGCCTCTACTTTCCTTGGCCAGGGAGGGCCTAGCCTGAGAATGCCACTGCACATCAGGGCCTCTCACTCTGCAAGAGTCAGGCTGGCGAAGGATCAAAGCCGAGTGCTGCCTGGCTAAGCCTGGCCCTCAGTGTCCGGTGATGTGGTGTCCCCCGTGGCCTCTGAGTAGGGTCCGTAATCTGACCACTTCTTGGTGCCTGCAACCCTATAAAAGCCGTGGCTGATTGAAATGGCTCTGGGAGTGCCATGGCAACATGGGGAGGGCGGGCGCAGAGGGACAAGGACAGGCTGTCCCAGCATCCAACAGGGTGCTCTGGGGCCTGGGCTGGTGGAAATGGTTCTTCCTGAATGTTACTTTGTCTTTCAGCAGACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTCTTCGGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCCTCCTACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAGATTGCCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGGACTTCAGTGTCGCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAGCCCTTCCCCACGCACTTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCTCAGAGCTCCCAGCCACCAGGAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCTCAGGTCCGAGAGCGGGGGCCCAGCGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGGTGTGAGAGGAAGCCACCCTCGCCACATCTAAATGCTGCCAATGAGTTTCTCTACTCTCAAACCTTCTCCTTGTCCCGAGAATCTTCCTTACGGTACCATTCAGGAATGGGGACTGTGGAGAACTGGACTGACGGATGACTCTCACGTCTCCTCCATAGCCCCGGGACCGTGTTGCTCCAGTATTAACCTCTGTGGGTGGCCTGCACTCTACCAAGAAACACAGGAAGGTATTCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACGAGCATGTATGTATTTGGAGAGCATCCATCTTCTGACATACAACTGAGGTCATGACAAGGAAAAAAAACACCACATTTATCTAAGAAGTGATTTTGGCTGCAGGACCTGGGTCTATTGTTATCTGACATCTCTTGACATGCCCGTGGGTGGGATGGGAGTGGAGGGTTCATATGAGTTATTGAGAGGGTTTTATAATGGTTGATTTACTCAGGGGCCAGGTGGGGAGTTCTCTCCCATGGGGAAAGATTCTCACTGCTGGGGTGGGAAGATTCTCGCTGCTGGGGTGTGAGGACTCTGTGCACACCTTAGAGTTCCTGGCCTTCTCTTTGCAAGGGGAGCTGAGAATCTGGTTTTGGTAGCAGGAGGCCCACTCCTTTGACTTCTGGAGAGTCTGTGAGACTGCCTGAGAGGTGGGCTCAGCTAAGCCACAATGTGTACTTTGATAGTACAGCTGGCTGCTCAGTGAGTGGCCTAGACATTGATGACTGGAGCTCTGAGGTCTGAGGGATGACGTTCGGAAAGGGTCATGGGCTAAATGTCACCTGAGGGGTATTTTTAAAGGGTTTTTTTTTCCCTTCAAGAGGAGGGAAAATGCAACCAGTAGCATCTCTGTCATCATTCAGATTTTGTAATAAAGTACAGAGCCCTTCCCCCTAGGTCCCCAACATACAGTCTCTCACTCTGGTGTGTGGAGAGTCAGCCTCCCAGGCACCATACCATCTGCATCCTATGATGATGGGCAATTATGAAACACGCCTCAGCTGGCATCATCCCCAGGAGGCCACACTGGAGCTGATGTCTGGCATCTCCAGGGCCTGTTCTGCTCTCAGAAAATCTACGCTTCTGGAGCGAGAAAGGCCAACAGAAATAAAGATAGTTGAAAAAAATTTGTTTCTTCCAGTAAATTCAGCCGGTGAGCTCAGAGGAGCAAAGAGAATTCTCCAGTGTGGCGCTCACAAAGTCCTCAGCCCTGCGTTTTAGCATTGAATACCACCAGGCCATCAGTGTGGCTGGGGTGAACTCTCCATCAAACTTGGGAAATCACTAAACTCTTTGCATGCTGAATAGCTATTTATATATTATATAAATAAATAAATATATATATTATATATCGCTCTCTCTCACAAATGCAGGCCACATGTCAAATTCAGCTTTGCTTTCTACAAATGAATGAACTTAATAAAAATAAACGTTGGAGGGGGTATTTGGAAAGACATCTATTTAAATTTTTATTACATGTTTGATATTAAAAACTAAGAATGGTTTAGATAAAACATATAAATAAATATATATATATATATATATATATATAAACACACACACACTACAGATAAGGCTTTTTTAGAAAACACATTAGCTAACAGGTGATATGGAACTTCAAGTGTTTTGTTATATAGCATGGATGTTTTATTTTGCATATCGGAACATAAAGCCATTTTACAACTGTGAAGTGTGTGGATGCTCTTTATTACTGACTTGTCATTTCTTGGCTCTGCAACGGCCTCTGCCTCTTTTTTGCTGGTATTCTTTTTCTCAAGTGTCAGGTAAGGCCCTCAGTACCTCTGAACATGTGTACCGTGGAGCCTCTGAGCTCACAGTGAAGTCACCTAGGACCACAGAGCAATTGCACCTTTGATCTCATGCTACTCCCTGGGTTATGAATCTGGACTCCAGGGTCCACAAAGACCCCAGAAGGGCGGGCAGGCAGTAAAGCAGGAATCTGTCTCCTTTCAGCAGTCAACACATAAGCTGGCCATTTGGGGGAAGTGGTCTCGTAAGTAGGGAATTCCTGGTGGGATTTATGCAGCTGCTTCAGAAAAGGAACTGAAGAGCAGGTTTGAGTCAGTGCGGGGGGCT
Task1_train_25242
This alteration occurs within gene BRIP1 (BRCA1 interacting DNA helicase 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Fanconi anemia complementation group J
ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATTTCCCCAATAACAAGTAAAACAAAAAAAGATAAAAATATGGTGACAATGCCAGCAAGTCTTCTTGCATAGGCTATATAGCCAAAAAATAAATTTCAAGCATTTGAGGAATTCAGCAGATCACTTAGTCACTATGGAAAGCAGTCTACTTATGCATGAAATTCATGGAGTTTTACCATAAAGAGCTTTATTTTATTATTTTTGAACACCTGACACTTAATACTTTCATCTCTCCTTGAAGAGAAGTTTTTTAATATACAGAGTAAAGGAATTTCACAATTCCTCAGTTAGTTAGAAATAACTCTTTGGAAATAAATATGACTGTAGGATTTCAACAATGACTTTGATTCAGTAATTCTGTATTCTCTCCTGGCTCGGAACAAGTCACTCAAGTTTTGCCATTGGAACACCTTACTACTTATACTTTATAATCTCGTTTGAATATCTGTTAAAGTATCTTTTGACCATCCCTAAATAAAGTTTAAATAAATTTTCATCTATAAAAGAGAGTATTAAGGAAGAAAAGCATAAAACAAAATAATTCACATTATATGGTAGGGGGTGATATATCAATGAAATGAAACTCTGGGGGCTATAGCTCACAGTTTTTTGTGTAGAACCAACTCTAATAAGATACTAGTGAAAAACAAAACAACTCTAAAAATATATTAAAATATCATTGGTCACTTCATAGTAATCAATTTATGGTTCACTGATTTGGGGGTATAATTTCATACTTGCAACTTCAATTTTAGAGTAAACTAATTATCACACCAGAACATAGGCTCCCAAACTAATACTGCCAAAAGAAATTATTTGAAAGTCATATAAGTCTTTAGTAAGAAAGAATTCTCTATTTCCACCAAGCCCAAATTCATATTATTCTAATTTCCCTGGAAAATTTCAAAACCACCAATGACATCTTTTGAAAGTTAATAATTTAGTATAACTTTTAAAAGAGGGGTTTGTATTTATCAGAATTATGAGGTGGGATAATCATTATATTTCTCATTCAATTAAGAAAATTCAAACTTTGCCCAGACAGCCTAAATAAACTATCTGCTTTTGAAGTTTTTAAGTATATAAAGTATATTAATTAGATCTAATTAGACTAAACCATTTAAACACTTCTATCTCCTCATATGATATCATCCAAGTTTGACTATTTTTGGTAGCAGGATTTAAAAGAAGAAACTAAGATGTCTGACTACAACAGAAATTAATTTCAAGGAATTAAATATCCCAAGCTTTAAGACCAAATCCCATACTTTAAAACTTGACTAAAGATTTTATTACAGGAAAATTGTTTTTTAAAAGATATCAATACTAGCAGTTAATTTGATTTTCCGAAGTTGATTATCACTAAAATGTACATATAAAACACATACTGAGTAATTTAAATATTTTCAGCCTTATTTTTTCTCTAACACAAAATAACTTTACTCACGTTTTTCCCATCTAGCAATTCCATGCACTTCTCATTTCTGTTGAAGTTACCGACTACCTCAGGATGGACACAAGTATGATCCCTGCTGGAAAGAATAGTCATTGGAACCCCTGAATATGCCGTCCTCCGGAGCTCTCTAGTAATCTGAGCAATCTGCTTGTGTGTGCGTGTCCCAAAATATATTTTGGGTATCTTGGATTTCCCTGTATGATCCTTCTTAATGGTATTCGATGACTCTTGACTGTTTCCTTGTTTAGTAGAACAACAGCACCTAGAACAGTGGCCAGGGGGCTGTAAGAAAGGAAAGAAACGATAACTAATATCTAAACTACCATAAAAAACGTTATCAAACCTCACATGGAATCAGAACCTGTAAGTAATGAATCACAATGGTCAAATAAAGAGAAATAACAAGAAATTATAGTATCTAAAACTTGCCATTAAAGAAAAAACTACAATTTAAAATTGGTCCTCATTCTTTCTTTTAAAAGTTATAAATGATATTTCCAAATTTGCATTCTTTCCAACATACCACTCTAACTCTCCAATTCCAAATGTTTTGAGTACATTTTAACTCTCCTCTTTCATAAATTATAAAAATGATAAAACAAAGTAGGAACAATTTTAATTTTTTCTTAGGCTTCATACGAACTTGTGATATTATAGTTTAGAGTTAATAGTTTTGTTCACAGCATAGTTCATTCAAATATTCCTTAATACACCAATGCTTTTGAAGCACTTTTAAATATAGTTTACAAAAGAATAGAATTATCAAGTTGAATCTAAAGGATCACTTAACAACTTCAAAAAGAGAAAATTCTTCTTTAGCAAAGGTACGAAAATAAATGCAAAATATTAATATTTAATAATGAAAGCAGGTTGCTTGTGTGGAACAAGTATATCTGAAATTCAGTTACCTGTCATGGAGTGTAAACCAATCAGTAAAATTATCATCCAGGGTAGTTTTTCCTGGACAATTTCACTTGTAACTCAGTTTCATAACTGAAATAGTTATATAAATGTCTCTTTAAACAAACCATATGGAACATCAGGAATATAGTCTACTTAATTTACCTGATTTTTCTCTTCTGTTTCCAAATTCTCAAATACTAAAAAAAAAAGTTTAATGCTATATATTAGAACTCACAGGTTCTTAATAACTACTTCCTTCTAAGTCTCAATTATTACACCAAATGACACAGAACAAAGTCTCATTTTAGAGAAATAGTGTAAAATGGTTAATTTATAGAAGTGGTCATTGATGGGGAGGGAAAAAAGGTAAATAGCATTGTAACTTAAAAGACTGTGTGCTAAAGAGTTTTAATTTAGTAGAACAAACACTCTACTTGACTGTTTTTTTTTATTATTGTAATCAGTAAGATTAGCCTTCATAAACAAATGCTAAGTCATAGCATGTTACACCACAATACTGGGGATGAAGCTGTCTTTTAGCCTCAACTCAGTGGAAAAGCAAGTTCAAATTACTCCCAGTCTCACTCAACCTTGTCCGCCATTAAATATTACAATACATGATAGAATGGATGTAAATGTGACCCTTCTGGAGCTGTCACTCACTGGGATAAAAGGTTCACTGATGTGCCAAATAAACAGTCAGTCAAAGCAGATAAAGTTACAGCCATGCTGGAATTGTTACATTCTCCTCTCAGGTTGCCAGTAACAGCAGATTTCATTACAGAGTGCTGCCACATTAAATAGCCAGTTCCAAATATCCTGCCTTCTATATTGAATAATTACTTATTCACTAAAAGGATAAAAAGAAGAGTTATGAATGGGGCTCTTGTCAACAGTGAGGCAGGAAACAGCTGACATGTGGTTTATGTTACATATGTTGCAATATCCAACAATTTACGGTCACAGAGAAAATGGAATGCAAATTATATCATGATATTTCTGACTGAATTCTTTTTGGCTTTTGCAATGATCACATTAATCAATTAACATACAAAAAGAATTAAGGTAACTCAATTAGAATTAATTTACTTTTTCATACCATCAATTTTTTCCCTCAATTATACTATTTCTCTTCCTTATGATACAGTTAAATTCATGTGAATACTAGAATGCTATGGCCCAATGCACTGTTATGTACTATATAGATACATTCTATCTAAGCATAAAAGTAATCCAATAAAGTAGCTTTTTCTCAAGGCTGGGAAAACTTACTTTTTGATGTTACACTT
ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATTTCCCCAATAACAAGTAAAACAAAAAAAGATAAAAATATGGTGACAATGCCAGCAAGTCTTCTTGCATAGGCTATATAGCCAAAAAATAAATTTCAAGCATTTGAGGAATTCAGCAGATCACTTAGTCACTATGGAAAGCAGTCTACTTATGCATGAAATTCATGGAGTTTTACCATAAAGAGCTTTATTTTATTATTTTTGAACACCTGACACTTAATACTTTCATCTCTCCTTGAAGAGAAGTTTTTTAATATACAGAGTAAAGGAATTTCACAATTCCTCAGTTAGTTAGAAATAACTCTTTGGAAATAAATATGACTGTAGGATTTCAACAATGACTTTGATTCAGTAATTCTGTATTCTCTCCTGGCTCGGAACAAGTCACTCAAGTTTTGCCATTGGAACACCTTACTACTTATACTTTATAATCTCGTTTGAATATCTGTTAAAGTATCTTTTGACCATCCCTAAATAAAGTTTAAATAAATTTTCATCTATAAAAGAGAGTATTAAGGAAGAAAAGCATAAAACAAAATAATTCACATTATATGGTAGGGGGTGATATATCAATGAAATGAAACTCTGGGGGCTATAGCTCACAGTTTTTTGTGTAGAACCAACTCTAATAAGATACTAGTGAAAAACAAAACAACTCTAAAAATATATTAAAATATCATTGGTCACTTCATAGTAATCAATTTATGGTTCACTGATTTGGGGGTATAATTTCATACTTGCAACTTCAATTTTAGAGTAAACTAATTATCACACCAGAACATAGGCTCCCAAACTAATACTGCCAAAAGAAATTATTTGAAAGTCATATAAGTCTTTAGTAAGAAAGAATTCTCTATTTCCACCAAGCCCAAATTCATATTATTCTAATTTCCCTGGAAAATTTCAAAACCACCAATGACATCTTTTGAAAGTTAATAATTTAGTATAACTTTTAAAAGAGGGGTTTGTATTTATCAGAATTATGAGGTGGGATAATCATTATATTTCTCATTCAATTAAGAAAATTCAAACTTTGCCCAGACAGCCTAAATAAACTATCTGCTTTTGAAGTTTTTAAGTATATAAAGTATATTAATTAGATCTAATTAGACTAAACCATTTAAACACTTCTATCTCCTCATATGATATCATCCAAGTTTGACTATTTTTGGTAGCAGGATTTAAAAGAAGAAACTAAGATGTCTGACTACAACAGAAATTAATTTCAAGGAATTAAATATCCCAAGCTTTAAGACCAAATCCCATACTTTAAAACTTGACTAAAGATTTTATTACAGGAAAATTGTTTTTTAAAAGATATCAATACTAGCAGTTAATTTGATTTTCCGAAGTTGATTATCACTAAAATGTACATATAAAACACATACTGAGTAATTTAAATATTTTCAGCCTTATTTTTTCTCTAACACAAAATAACTTTACTCACGTTTTTCCCATCTAGCAATTCCATGCACTTCTCATTTCTGTTGAAGTTACCGACTACCTCAGGATGGACACAAGTATGATCCCTGCTGGAAAGAATAGTCATTGGAACCCCTGAATATGCCGTCCTCCGGAGCTCTCTAGTAATCTGAGCAATATGCTTGTGTGTGCGTGTCCCAAAATATATTTTGGGTATCTTGGATTTCCCTGTATGATCCTTCTTAATGGTATTCGATGACTCTTGACTGTTTCCTTGTTTAGTAGAACAACAGCACCTAGAACAGTGGCCAGGGGGCTGTAAGAAAGGAAAGAAACGATAACTAATATCTAAACTACCATAAAAAACGTTATCAAACCTCACATGGAATCAGAACCTGTAAGTAATGAATCACAATGGTCAAATAAAGAGAAATAACAAGAAATTATAGTATCTAAAACTTGCCATTAAAGAAAAAACTACAATTTAAAATTGGTCCTCATTCTTTCTTTTAAAAGTTATAAATGATATTTCCAAATTTGCATTCTTTCCAACATACCACTCTAACTCTCCAATTCCAAATGTTTTGAGTACATTTTAACTCTCCTCTTTCATAAATTATAAAAATGATAAAACAAAGTAGGAACAATTTTAATTTTTTCTTAGGCTTCATACGAACTTGTGATATTATAGTTTAGAGTTAATAGTTTTGTTCACAGCATAGTTCATTCAAATATTCCTTAATACACCAATGCTTTTGAAGCACTTTTAAATATAGTTTACAAAAGAATAGAATTATCAAGTTGAATCTAAAGGATCACTTAACAACTTCAAAAAGAGAAAATTCTTCTTTAGCAAAGGTACGAAAATAAATGCAAAATATTAATATTTAATAATGAAAGCAGGTTGCTTGTGTGGAACAAGTATATCTGAAATTCAGTTACCTGTCATGGAGTGTAAACCAATCAGTAAAATTATCATCCAGGGTAGTTTTTCCTGGACAATTTCACTTGTAACTCAGTTTCATAACTGAAATAGTTATATAAATGTCTCTTTAAACAAACCATATGGAACATCAGGAATATAGTCTACTTAATTTACCTGATTTTTCTCTTCTGTTTCCAAATTCTCAAATACTAAAAAAAAAAGTTTAATGCTATATATTAGAACTCACAGGTTCTTAATAACTACTTCCTTCTAAGTCTCAATTATTACACCAAATGACACAGAACAAAGTCTCATTTTAGAGAAATAGTGTAAAATGGTTAATTTATAGAAGTGGTCATTGATGGGGAGGGAAAAAAGGTAAATAGCATTGTAACTTAAAAGACTGTGTGCTAAAGAGTTTTAATTTAGTAGAACAAACACTCTACTTGACTGTTTTTTTTTATTATTGTAATCAGTAAGATTAGCCTTCATAAACAAATGCTAAGTCATAGCATGTTACACCACAATACTGGGGATGAAGCTGTCTTTTAGCCTCAACTCAGTGGAAAAGCAAGTTCAAATTACTCCCAGTCTCACTCAACCTTGTCCGCCATTAAATATTACAATACATGATAGAATGGATGTAAATGTGACCCTTCTGGAGCTGTCACTCACTGGGATAAAAGGTTCACTGATGTGCCAAATAAACAGTCAGTCAAAGCAGATAAAGTTACAGCCATGCTGGAATTGTTACATTCTCCTCTCAGGTTGCCAGTAACAGCAGATTTCATTACAGAGTGCTGCCACATTAAATAGCCAGTTCCAAATATCCTGCCTTCTATATTGAATAATTACTTATTCACTAAAAGGATAAAAAGAAGAGTTATGAATGGGGCTCTTGTCAACAGTGAGGCAGGAAACAGCTGACATGTGGTTTATGTTACATATGTTGCAATATCCAACAATTTACGGTCACAGAGAAAATGGAATGCAAATTATATCATGATATTTCTGACTGAATTCTTTTTGGCTTTTGCAATGATCACATTAATCAATTAACATACAAAAAGAATTAAGGTAACTCAATTAGAATTAATTTACTTTTTCATACCATCAATTTTTTCCCTCAATTATACTATTTCTCTTCCTTATGATACAGTTAAATTCATGTGAATACTAGAATGCTATGGCCCAATGCACTGTTATGTACTATATAGATACATTCTATCTAAGCATAAAAGTAATCCAATAAAGTAGCTTTTTCTCAAGGCTGGGAAAACTTACTTTTTGATGTTACACTT
Task1_train_25243
This variant affects gene MED13 (mediator complex subunit 13) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Intellectual developmental disorder 61
AGACTGTGTGCTTCAGGGATGGAAGGGACAGTTGCAGGTTCAACAGAATTAAGGGGTCTGCATGTAGATGGGGTAGAAGCTGGTGAATACAAGTCTGAATTTTCATATTTGACTGAACCTTGAGCACTAGCAGGTCCACCAGCTCCACGAGGAGTCCGAGGAGTCCTTGGAGTCCTTGGAGTTGGAAACCGAGGGGTGGATGGAGAAGGAAGAATTCCTGCTCCGCTGTTACTAGGAGGTGCACTGCTAGGAGGCATCCCAAAAGAAGTATGAGTTTGAGGTGTATAAGCAGTGCCATATTCTTGATCCATATTACTTCCATCACTATCATCACCAGGGTAAAAGAAGATCAAATATATATATAAAGGAACATATTAGTAATGTGAAATACAACTAAAAACGTCCCAAATGTTTTTCAATTACATAGAAAATTATGAAAGGACAAGTATTGCAAGAATTACAAGCACAGTCAATTCTTATTTCTGGTTAACATATCTACTCTAAGTGATTGTTGTTGACTAAGGATCAATTAACAAGTTCAAAAATCATTAATAAGCACTCTATACACTAATGCATACCTAGACATCCATATTTACTATCTATAAATTTTGTTTACTAGAAATACTTATATTTCCTTGATTCTAAGATGCTACTGACTATAAAAAAAGAAAAATGATTTTAGAGATGCTCATGTGTAAAAAGGGAAAAATGGTAATTTTAAAATGCTACCACTTATAAGACATCTCAGATTCAGATTTCTTTTAGCCTTGAGTTGAAACTGACCAAGTCAGAGATGTTAAAATGTGAAAAGTGTGGAAAAGATGGCAAATGTAAAAATGGGAGCAATTTAAAATTGCAGCCCAAAAGAAAAGGTGCTTCGGAATACAAATCAAGCATAATAGTCTTAAGTTTCCTAATAGTTTATCCATACCCAATTAACCTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTCTTGCCCAGGCTGGAGTGCACTGGTGCGATCTCGGCTCCCTGCAATGCCTGACTCCCAGGTTCAAGCCATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAAGCATGCGCCACCACGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGTATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCAAGGGATACGCCTGCCTTGGCCTCCCAAAGTATGGGAATTACAGGCGTGATTCACTGCTCCCAGCCAATCACTATAATTGATTAACCAGAAATAATTTTTAGAATTTTCAAAAACCAATTTTATTTTTCCAGCATACCAGGTAAATCTATGAAAAAAAAATTAAAGCTGTATAAGCAGTCACATACTATTGTAACAACATAAATCATACCCCTCTTTGATGAATGGCATTGAAGGCCCTGAAGAAAGCAATTCCAATTTTCCAACAGTCCAACTCTGACGGTAAATACACTCTTCTGGCAATTTGATAGGGGGCAGATATTGGCTTGGTAGAGTTTTTAGAGGTGCAAACATGGAACATCCCACTAGAATTTGACAATTTTCAGGCTTATAGACATAAGAAAAATCCTACAATATAAAGATGGTAGGTTTTCAGTATCTTATCTTCTAGGAGGAAAAAATAAATAAACAAACAGGCTCTGGACCTTTTTTCCTTTCTTTAAACAGAATAAAATCTAAATACAATTCTATTATTTTCTTAAATGCATTCTTAATAGTGACAACAATAATTCAGTCCTCAACTTAGCTACAAAACCGCAACCACTATAAAATAATTTTTGACTATAGCAACAAATTAATTCTATAAGAAAATATAGGAAGTGAATTATTTTTCTAGAAAAAACATACTTACTTTAATTTCAGAAGGTTTGGGGCTACAGAATCCCTCATCAACCTCAATTTTGAACTGCGCTCCTATACTAGAACTATTTCCTTCTAGAACAGTTCCTCCAGGTGTTGTATCCATACTACCATATTCTTTATTATTCATATTCATTGGGGAAAATCCCATAATATGTTGTTCCAATGATGGTGGTGTAGGATACATTTTATGAAGATCTGCAGTGCCTATATTTAATAAAAACATACATTTTAACATGACTAAAAATAGGCGAATCTGTGTTTAAACCAAAAGGAGTGGGGAGCTTTGTTGAGATTAAAAGTTCGCAAATTTATCTCGAGCACAGATGAGGGAAGCTTACTTATGCAAGATAACGGGTCCAGATTTCCTGTCTTTGATTCCTTGCAGCTGGCTTTATCATCTGATCCATTTGCTGATTTTTTAGATCCAGGCTATTTAAAAAAAGCACATATTTATCTAAAATTTTACATCCAATGTGATCTCAAAATAGTAATCATTCAGATATAACTTAACAGTAAAGCCCATTCATTAAAAGTAGTATTTTGAATCTGTGATACAGCCAAATACATACTAGTGTTGAAAGATATAAAATATTTCTTAATCACTGACTCCAGATTAATTTATTTGGTAAGCCTCCAAATTAAAAGGAAAAAGTTCCTCCAAAGAAAATGACCAATACTTTCAAAATACACAGAAGTAAGGTTAACCTTAACTTAAAACCCAGTAATAAGAGGCCGGACATGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCAATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGGGGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCACAAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAGGACTGCACCACTGCACTCCAGCATGGGCAATACAATGAGACTCTTGTCTTAAAATAAATAAAAATAAGAAAACCTGCAATAAGAAGGGGTTGTAATTAACATTAGAAATGCTTCTTGGTAAAAGATACTTGCAGAGAAAGCATTTGTCTCCTTAAGTTGAACACATTAAAGTTTCCTATATAATCAATCACTCACCTATCTAAATTCTTATTTATACTTTCACCTTGTTTTAATAGTCTCCCTATTCCTGCAAAAATACTGTTAACAGGTAAAACTAAGTACAAACTTCAGAAGATCTAATGACAAAGCAATAGAGTTCCTAACTTTTAGTAGATTGAACAAACAAGTTTTACTATCTCCAAGCTCTTACCAGTGTTTTCAGAGCTAACATTTGTTCCATGTCTTCTGTTAGACAGTCTGTGATAAATATTAATATGTAGACCACGTTCTGACTACAATCTTTTATTTCAGAGGAACCACAGCTGATACAGGAATGGTAGTAGAGAGAAAGTATGAATGTGCCAAAGCATTCAAGGATATAGTTGCCTAGTAAAGGGTGCCCTAAAATGTACTACATTATGGGATACACAGTAAAAGTTTATGTATCTGCAATATATATATATGTATATGTACACACACACATATACACACATATAGAGATATATATGTTGAGAGAGGACTAAATGCATATTATATAGGAAAGGAAAGATCAAATGTACCATAGAAGTTTCCAAGCTACCTTTATGCAGATGAAAAGGAATTCCCTTTTATGATAATGCAGCACCCAATTCATTAATTTGACAGAGACTTGACATTCTAGGGAATCTCATTTTAAGCTTTAATTTCTTTTATCTTCACCTTTCTCTGCAAATGGGTGTTAAAGATTAAATATTATTTTTTTCCTCTTTTATTGTTATATCATGTATCTGTCTTATAATAGCTGTGATGCAAAACAAATTCAAAAGAGCTGGTATTCCTTAATAAATTGACAAAGCAAATAACTTTAATGTCAATTATGTATGTGTTCTCTGAATGAGTAAATTCCAGAGTCATTTCTCAAACTACAGAATCAAATAGGAAAATAATTCTGCTTCCTAAAACTACAAAACAGAACATACGGCAGAGCTCAAATTAAGGTTAATCATGTGTCCCCCAAATGTAAAAACAAAAGGAGAAACAAAACCCTCAAAGTTTATAGATGACACTATGGCAAGACTACTCAAACATGAGATTTAAAAAAGAAATCAATGAATGAGGTTTTACTA
AGACTGTGTGCTTCAGGGATGGAAGGGACAGTTGCAGGTTCAACAGAATTAAGGGGTCTGCATGTAGATGGGGTAGAAGCTGGTGAATACAAGTCTGAATTTTCATATTTGACTGAACCTTGAGCACTAGCAGGTCCACCAGCTCCACGAGGAGTCCGAGGAGTCCTTGGAGTCCTTGGAGTTGGAAACCGAGGGGTGGATGGAGAAGGAAGAATTCCTGCTCCGCTGTTACTAGGAGGTGCACTGCTAGGAGGCATCCCAAAAGAAGTATGAGTTTGAGGTGTATAAGCAGTGCCATATTCTTGATCCATATTACTTCCATCACTATCATCACCAGGGTAAAAGAAGATCAAATATATATATAAAGGAACATATTAGTAATGTGAAATACAACTAAAAACGTCCCAAATGTTTTTCAATTACATAGAAAATTATGAAAGGACAAGTATTGCAAGAATTACAAGCACAGTCAATTCTTATTTCTGGTTAACATATCTACTCTAAGTGATTGTTGTTGACTAAGGATCAATTAACAAGTTCAAAAATCATTAATAAGCACTCTATACACTAATGCATACCTAGACATCCATATTTACTATCTATAAATTTTGTTTACTAGAAATACTTATATTTCCTTGATTCTAAGATGCTACTGACTATAAAAAAAGAAAAATGATTTTAGAGATGCTCATGTGTAAAAAGGGAAAAATGGTAATTTTAAAATGCTACCACTTATAAGACATCTCAGATTCAGATTTCTTTTAGCCTTGAGTTGAAACTGACCAAGTCAGAGATGTTAAAATGTGAAAAGTGTGGAAAAGATGGCAAATGTAAAAATGGGAGCAATTTAAAATTGCAGCCCAAAAGAAAAGGTGCTTCGGAATACAAATCAAGCATAATAGTCTTAAGTTTCCTAATAGTTTATCCATACCCAATTAACCTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTCTTGCCCAGGCTGGAGTGCACTGGTGCGATCTCGGCTCCCTGCAATGCCTGACTCCCAGGTTCAAGCCATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAAGCATGCGCCACCACGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGTATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCAAGGGATACGCCTGCCTTGGCCTCCCAAAGTATGGGAATTACAGGCGTGATTCACTGCTCCCAGCCAATCACTATAATTGATTAACCAGAAATAATTTTTAGAATTTTCAAAAACCAATTTTATTTTTCCAGCATACCAGGTAAATCTATGAAAAAAAAATTAAAGCTGTATAAGCAGTCACATACTATTGTAACAACATAAATCATACCCCTCTTTGATGAATGGCATTGAAGGCCCTGAAGAAAGCAATTCCAATTTTCCAACAGTCCAACTCTGACGGTAAATACACTCTTCTGGCAATTTGATAGGGGGCAGATATTGGCTTGGTAGAGTTTTTAGAGGTGCAAACATGGAACATCCCACTAGAATTTGACAATTTTCAGGCTTATAGACATAAGAAAAATCCTACAATATAAAGATGGTAGGTTTTCAGTATCTTATCTTCTAGGAGGAAAAAATAAATAAACAAACAGGCTCTGGACCTTTTTTCCTTTCTTTAAACAGAATAAAATCTAAATACAATTCTATTATTTTCTTAAATGCATTCTTAATAGTGACAACAATAATTCAGTCCTCAACTTAGCTACAAAACCGCAACCACTATAAAATAATTTTTGACTATAGCAACAAATTAATTCTATAAGAAAATATAGGAAGTGAATTATTTTTCTAGAAAAAACATACTTACTTTAATTTCAGAAGGTTTGGGGCTACAGAATCCCTCATCAACCTCAATTTTGAACTGCGCTCCTATACTAGAACTATTTCCTTCTAGAACAGTTCCTCCAGGTGTTGTATCCATACTACCATATTCTTTATTATTCATATTCATTGGGGAAAATCCCATAATATGTTGTTCCAATGATGGTGGTGTAGAATACATTTTATGAAGATCTGCAGTGCCTATATTTAATAAAAACATACATTTTAACATGACTAAAAATAGGCGAATCTGTGTTTAAACCAAAAGGAGTGGGGAGCTTTGTTGAGATTAAAAGTTCGCAAATTTATCTCGAGCACAGATGAGGGAAGCTTACTTATGCAAGATAACGGGTCCAGATTTCCTGTCTTTGATTCCTTGCAGCTGGCTTTATCATCTGATCCATTTGCTGATTTTTTAGATCCAGGCTATTTAAAAAAAGCACATATTTATCTAAAATTTTACATCCAATGTGATCTCAAAATAGTAATCATTCAGATATAACTTAACAGTAAAGCCCATTCATTAAAAGTAGTATTTTGAATCTGTGATACAGCCAAATACATACTAGTGTTGAAAGATATAAAATATTTCTTAATCACTGACTCCAGATTAATTTATTTGGTAAGCCTCCAAATTAAAAGGAAAAAGTTCCTCCAAAGAAAATGACCAATACTTTCAAAATACACAGAAGTAAGGTTAACCTTAACTTAAAACCCAGTAATAAGAGGCCGGACATGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCAATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGGGGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCACAAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAGGACTGCACCACTGCACTCCAGCATGGGCAATACAATGAGACTCTTGTCTTAAAATAAATAAAAATAAGAAAACCTGCAATAAGAAGGGGTTGTAATTAACATTAGAAATGCTTCTTGGTAAAAGATACTTGCAGAGAAAGCATTTGTCTCCTTAAGTTGAACACATTAAAGTTTCCTATATAATCAATCACTCACCTATCTAAATTCTTATTTATACTTTCACCTTGTTTTAATAGTCTCCCTATTCCTGCAAAAATACTGTTAACAGGTAAAACTAAGTACAAACTTCAGAAGATCTAATGACAAAGCAATAGAGTTCCTAACTTTTAGTAGATTGAACAAACAAGTTTTACTATCTCCAAGCTCTTACCAGTGTTTTCAGAGCTAACATTTGTTCCATGTCTTCTGTTAGACAGTCTGTGATAAATATTAATATGTAGACCACGTTCTGACTACAATCTTTTATTTCAGAGGAACCACAGCTGATACAGGAATGGTAGTAGAGAGAAAGTATGAATGTGCCAAAGCATTCAAGGATATAGTTGCCTAGTAAAGGGTGCCCTAAAATGTACTACATTATGGGATACACAGTAAAAGTTTATGTATCTGCAATATATATATATGTATATGTACACACACACATATACACACATATAGAGATATATATGTTGAGAGAGGACTAAATGCATATTATATAGGAAAGGAAAGATCAAATGTACCATAGAAGTTTCCAAGCTACCTTTATGCAGATGAAAAGGAATTCCCTTTTATGATAATGCAGCACCCAATTCATTAATTTGACAGAGACTTGACATTCTAGGGAATCTCATTTTAAGCTTTAATTTCTTTTATCTTCACCTTTCTCTGCAAATGGGTGTTAAAGATTAAATATTATTTTTTTCCTCTTTTATTGTTATATCATGTATCTGTCTTATAATAGCTGTGATGCAAAACAAATTCAAAAGAGCTGGTATTCCTTAATAAATTGACAAAGCAAATAACTTTAATGTCAATTATGTATGTGTTCTCTGAATGAGTAAATTCCAGAGTCATTTCTCAAACTACAGAATCAAATAGGAAAATAATTCTGCTTCCTAAAACTACAAAACAGAACATACGGCAGAGCTCAAATTAAGGTTAATCATGTGTCCCCCAAATGTAAAAACAAAAGGAGAAACAAAACCCTCAAAGTTTATAGATGACACTATGGCAAGACTACTCAAACATGAGATTTAAAAAAGAAATCAATGAATGAGGTTTTACTA
Task1_train_25244
A mutation on Chromosome 17 affecting MED13 (mediator complex subunit 13) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Intellectual developmental disorder 61
AAAAAAATCCTGACATATGTTCATGTAAGCTGTTTCAAATAAAGTGGGCATAAGCATTCAGTGGCGTAACAAACTATCACACATAGGCATCAATCGATCGGGAAATAATCTACCTCAAACAACTGCAATTTGTTCTTTGTGTGGCTTCAACAAAATCCCAGGATGCCACTTTAGCAGCTGTCGCTTCTTCGCATAGACCACCTGATGAAGCAGAATACTTCCTCCTAAGATTTAAAGTTACAAAATTCTTTAAAATTCATAAAATTTTCTATCAAACCTCAATGTAGCATTGAAATTAATTTTAAAGATCAACATTATGAGTTAAAGAAAAATCAAACAAATGACTGTTTATACTTTAGATATCTTCTAATTATAAGTAATTATCAACATGCAATTTTTGAACTTATAAATGAAAATACACACTTGTTCTGTGCTCTGTTCATATTGCATTCTTGCCAAACTCTATCCACCACATGATTTGCTAATTTTCTGGGTATTTTCCCACCATGGTGGCTAGTACTATCGGAGTTGAAGCCATCAGATACTGAAGAAAATTTGACCCACTTCTGGACAGACTGAGGATCAACTGAAAACAAAACAAAAAAACAGGCTGTAGGAGAATAAAGGTAGGTTTAAAGTAACATTATTTGGGTTTTTTATTAATTTGTGATACAAGCTGCTCCAGCTATCTGGTAAAATTATTTATATTTTGAGATAAAAAGCATGCTACTTTTTGGAACCAGATCTCATTAGGCAAATGTGGCAATCAAGTACATCTCTGTAACCTACCACTCTCAGTACCAAGAGTGGGGTTCTCAGGAGCCAGGCAGGGCCAGCACACGGTGGCGTGTCGGGGGAGGTGGGCTGAGGGCAAGGAAGGAGGTGTCCCATGGATCATGCTGTATAAGCAAACCAGACTATCCTGATGCCCAGAGTGACATCATCAAGGTCAGAGGCTGGCCAGAGGTGGGGAGACTGGAAGGACTTCGGAGTAGTGCGAAGGGGCCCTGGACACCAGCCATGGAGCTGCTGCACAGAGCCTGGCTTCCACATCAAGGTGGGGTTTGGAGGCCAGGATGAGCCCCTGCAGCGGCAGCACTCTGGCCCTTCTGTCCCTGCCAGCCTCTGACCTGGGTCAGTCAATCATTGCTGGATTTTAGCCAAACACTTTAGTGTTCTCATTTAGTTGGAAATTAGACAGTCTTTTTTGTAAGGTCAGCTGAGCATGAGCATATTTCCCCTCCATTGTAAAAAGCTCTTCTGTGTTTTTATACGTTTCTCCTCCATTGTAAAAAGTTCTTCTGTGTTTTTGTTTTAAAGGTAGATGGAGGGAGGGCAGAGATATAAACTGTTGCATGAATCGATGGGTCAGAACTTTAGTATATGCGTATGTTCTTCTGAGTAACAGGGCGTTTTGCTGAAAATAAGCACCTTGGTAACTAAACCCCTTTTAATAGCTAAAACGCTTTAGTTCTGTATTGACAGTTACTGTAAAAGCTTGGGTTTATTTTTGTAGGACTTAAGGGCTAAGAATTAGAACACAGCAATGGGCTGCTCTGTTGGAGTAATTTTAATTATAGATAAACACATAAACCTTTAAAAATAAAAGCACGCTACTTTTAAATACAGAAAGCAAAATATCTAAAACAGGGAATGCAAACTGGATGGCAGTGTATCAATGCTGATTTTCTGACTAAGAGGATCGAGTAATAGTTGTATAGGAGAGTGTCCTTAATTCTGGGAAACACACTGAGTACACAGGAGTGATGGGACATCATGTCTGTAGGTTGTTCTCAAATGGTTCAGAAAAAGACCAATGATAATGAATGTACATCATACAGACAGGGTGATGGAGTAAATAATAACAGTTTGGAAATATGGCTAAGGAAATTACTTGTACTACACTTGTAAATTCTCAAGAAGTTTGAAACTATTTCAAAATAAATTATTTCTTAAGTACTTACTGTACACAAAATAACAAATTACCAGAGCTGATGAGACAAATTACTGCTATACCTGTTTGGACTTCCTCAGGAGACGTAGGTGGTGTAAGCGTAACCGAAGACATAGCAGGATCTCTTGTGGAAGCAGGCACTTGGTGGACACCCAAGCAAGAAGATGAACAGTGAGTGGATCCCACAGGGCTAGGAGTAGGAATGTCTGACTGAGGGACTAGAACAAAGCATGCTGGGTAGATCATTCGGACACCAGCTGAAAGGAAAAAAATGGGACAGGAAAACCAATTACCTTTGTGACTAGTGAATTAGTTTCACTCAAAAGTACTATAATGGAAAAGTAGGTATCACATTTATACAAATAAAAATACATTTTTATAAATATAAGCTTCTTTGGCATAAGTTTTTCTTTTCTTTTTTTTTTTTCTCTTTTTTAGAAGAAACCACAATAAACCACAATAAGCTGTCAGTGGTGGTTATCTTTGCTGAGAGAGATTTGGAAAAAGGCAGCTTTCCTTTTTTTAGATTTCTAGAAATGTGTTTTTTAAATCTTTATGTGCACTTCTGACCAACTTAATGTGTATTACTTTTTCAATTTTATTGTTTAAGTTTAACAAAGGTAATCTGGACACTAGAATTATGAACCATTTTCTACTTACTTTTCTATATGCCTCTATTTTAAAAGCCTAAAAAATGTGTGTTTTTTCTGTTTCTGTCACAACTGCTCTAGTAGTAATGGGTTTATTTAAAGTGAGCACTGGTAATCTTTTTCTTAAAAAAAAAACAGACAAACAACAACAAAAAAAACAGGCCAGGAGTGGTAGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGGTCATTTGAAGTCAGGAGTTCAAGAGCAACCTGGCCAACATGGCTAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAACTGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCACGCCATTGCACTCCAGCCTGAGCAGCGACAGAGCGAGATTCCGTCTCAGGAAAAAAAAAAAAAAAAAAAAGATGAAATAAGGTGATCTTCACGTCTAACATTACCATTAGATTCCCTTAAATACAATATGGTAGATTCTAATTCCAATTATCTCCTAAATTATACTTTCTCCATGCCTCCTCTCATGCCTCTCTGAGGTAGAGTATATGTCTTCACTCCATTGTCAGGCTGTGTGACTTGCTCTGGAATGTAAGCATGTGATATAAGCCACATCCTAACAGAAGCTTTAAATGTGCCTGCAGGGTCAGTGCAGCTTCTCTCACTTCTGTCTTCTGCTATGAGATTAACATGTCCCAGATGTGGGTACTTTGTTAACCTGGGTCCCTGAATGAGAGGACATAGAGAATACAGCCAATCTGAAAAAATCTGACCCTTTTAGGCTGGGCACGGTGGCTCACGCCAGTAATCCCAGCACTCTGGGAGGCCAAGGTAGGTGGATCACTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACACGGCAAAACCCCATCTCTACTAGCATTACAAAAATTAGGTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCTCAAGACTGAGGCACGAAAAGCGCTTGAACCTGGGAGGCGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCACCTCAAAAAAATAAAAATAAATTAAATAAATAATAAAAAAATATAAAAAAATCTGACCCTTTTGGCAGGCAGAGCATGCCAAAGTCATAAATTCTTTAGTTACATTTTCTGTCTCTTAAGTTATTGGAAGTGGTAGTTTTACCAAATGTTAAAACATCATACAACACAGGTTGTCAACTTTTCAGCCTCCAAATATTAATTCATTCACAATTAACTGTCCCATCCTAAGCATGCTTCCCTCTAGACAGAATATATTTCCCTGCCCCAATGACTTTGGCTTGGCCATTTAACTAGCTTTGTCTAATGCAATGTGAGCAGATGTAACATACACCATATCCCAGCAGAAGCTCTGAGTACACTTACATGGTTAGGTTC
AAAAAAATCCTGACATATGTTCATGTAAGCTGTTTCAAATAAAGTGGGCATAAGCATTCAGTGGCGTAACAAACTATCACACATAGGCATCAATCGATCGGGAAATAATCTACCTCAAACAACTGCAATTTGTTCTTTGTGTGGCTTCAACAAAATCCCAGGATGCCACTTTAGCAGCTGTCGCTTCTTCGCATAGACCACCTGATGAAGCAGAATACTTCCTCCTAAGATTTAAAGTTACAAAATTCTTTAAAATTCATAAAATTTTCTATCAAACCTCAATGTAGCATTGAAATTAATTTTAAAGATCAACATTATGAGTTAAAGAAAAATCAAACAAATGACTGTTTATACTTTAGATATCTTCTAATTATAAGTAATTATCAACATGCAATTTTTGAACTTATAAATGAAAATACACACTTGTTCTGTGCTCTGTTCATATTGCATTCTTGCCAAACTCTATCCACCACATGATTTGCTAATTTTCTGGGTATTTTCCCACCATGGTGGCTAGTACTATCGGAGTTGAAGCCATCAGATACTGAAGAAAATTTGACCCACTTCTGGACAGACTGAGGATCAACTGAAAACAAAACAAAAAAACAGGCTGTAGGAGAATAAAGGTAGGTTTAAAGTAACATTATTTGGGTTTTTTATTAATTTGTGATACAAGCTGCTCCAGCTATCTGGTAAAATTATTTATATTTTGAGATAAAAAGCATGCTACTTTTTGGAACCAGATCTCATTAGGCAAATGTGGCAATCAAGTACATCTCTGTAACCTACCACTCTCAGTACCAAGAGTGGGGTTCTCAGGAGCCAGGCAGGGCCAGCACACGGTGGCGTGTCGGGGGAGGTGGGCTGAGGGCAAGGAAGGAGGTGTCCCATGGATCATGCTGTATAAGCAAACCAGACTATCCTGATGCCCAGAGTGACATCATCAAGGTCAGAGGCTGGCCAGAGGTGGGGAGACTGGAAGGACTTCGGAGTAGTGCGAAGGGGCCCTGGACACCAGCCATGGAGCTGCTGCACAGAGCCTGGCTTCCACATCAAGGTGGGGTTTGGAGGCCAGGATGAGCCCCTGCAGCGGCAGCACTCTGGCCCTTCTGTCCCTGCCAGCCTCTGACCTGGGTCAGTCAATCATTGCTGGATTTTAGCCAAACACTTTAGTGTTCTCATTTAGTTGGAAATTAGACAGTCTTTTTTGTAAGGTCAGCTGAGCATGAGCATATTTCCCCTCCATTGTAAAAAGCTCTTCTGTGTTTTTATACGTTTCTCCTCCATTGTAAAAAGTTCTTCTGTGTTTTTGTTTTAAAGGTAGATGGAGGGAGGGCAGAGATATAAACTGTTGCATGAATCGATGGGTCAGAACTTTAGTATATGCGTATGTTCTTCTGAGTAACAGGGCGTTTTGCTGAAAATAAGCACCTTGGTAACTAAACCCCTTTTAATAGCTAAAACGCTTTAGTTCTGTATTGACAGTTACTGTAAAAGCTTGGGTTTATTTTTGTAGGACTTAAGGGCTAAGAATTAGAACACAGCAATGGGCTGCTCTGTTGGAGTAATTTTAATTATAGATAAACACATAAACCTTTAAAAATAAAAGCACGCTACTTTTAAATACAGAAAGCAAAATATCTAAAACAGGGAATGCAAACTGGATGGCAGTGTATCAATGCTGATTTTCTGACTAAGAGGATCGAGTAATAGTTGTATAGGAGAGTGTCCTTAATTCTGGGAAACACACTGAGTACACAGGAGTGATGGGACATCATGTCTGTAGGTTGTTCTCAAATGGTTCAGAAAAAGACCAATGATAATGAATGTACATCATACAGACAGGGTGATGGAGTAAATAATAACAGTTTGGAAATATGGCTAAGGAAATTACTTGTACTACACTTGTAAATTCTCAAGAAGTTTGAAACTATTTCAAAATAAATTATTTCTTAAGTACTTACTGTACACAAAATAACAAATTACCAGAGCTGATGAGACAAATTACTGCTATACCTGTTTGGACTTCCTCAGGAGACGTAGGTGGTATAAGCGTAACCGAAGACATAGCAGGATCTCTTGTGGAAGCAGGCACTTGGTGGACACCCAAGCAAGAAGATGAACAGTGAGTGGATCCCACAGGGCTAGGAGTAGGAATGTCTGACTGAGGGACTAGAACAAAGCATGCTGGGTAGATCATTCGGACACCAGCTGAAAGGAAAAAAATGGGACAGGAAAACCAATTACCTTTGTGACTAGTGAATTAGTTTCACTCAAAAGTACTATAATGGAAAAGTAGGTATCACATTTATACAAATAAAAATACATTTTTATAAATATAAGCTTCTTTGGCATAAGTTTTTCTTTTCTTTTTTTTTTTTCTCTTTTTTAGAAGAAACCACAATAAACCACAATAAGCTGTCAGTGGTGGTTATCTTTGCTGAGAGAGATTTGGAAAAAGGCAGCTTTCCTTTTTTTAGATTTCTAGAAATGTGTTTTTTAAATCTTTATGTGCACTTCTGACCAACTTAATGTGTATTACTTTTTCAATTTTATTGTTTAAGTTTAACAAAGGTAATCTGGACACTAGAATTATGAACCATTTTCTACTTACTTTTCTATATGCCTCTATTTTAAAAGCCTAAAAAATGTGTGTTTTTTCTGTTTCTGTCACAACTGCTCTAGTAGTAATGGGTTTATTTAAAGTGAGCACTGGTAATCTTTTTCTTAAAAAAAAAACAGACAAACAACAACAAAAAAAACAGGCCAGGAGTGGTAGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGGTCATTTGAAGTCAGGAGTTCAAGAGCAACCTGGCCAACATGGCTAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAACTGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCACGCCATTGCACTCCAGCCTGAGCAGCGACAGAGCGAGATTCCGTCTCAGGAAAAAAAAAAAAAAAAAAAAGATGAAATAAGGTGATCTTCACGTCTAACATTACCATTAGATTCCCTTAAATACAATATGGTAGATTCTAATTCCAATTATCTCCTAAATTATACTTTCTCCATGCCTCCTCTCATGCCTCTCTGAGGTAGAGTATATGTCTTCACTCCATTGTCAGGCTGTGTGACTTGCTCTGGAATGTAAGCATGTGATATAAGCCACATCCTAACAGAAGCTTTAAATGTGCCTGCAGGGTCAGTGCAGCTTCTCTCACTTCTGTCTTCTGCTATGAGATTAACATGTCCCAGATGTGGGTACTTTGTTAACCTGGGTCCCTGAATGAGAGGACATAGAGAATACAGCCAATCTGAAAAAATCTGACCCTTTTAGGCTGGGCACGGTGGCTCACGCCAGTAATCCCAGCACTCTGGGAGGCCAAGGTAGGTGGATCACTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACACGGCAAAACCCCATCTCTACTAGCATTACAAAAATTAGGTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCTCAAGACTGAGGCACGAAAAGCGCTTGAACCTGGGAGGCGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCACCTCAAAAAAATAAAAATAAATTAAATAAATAATAAAAAAATATAAAAAAATCTGACCCTTTTGGCAGGCAGAGCATGCCAAAGTCATAAATTCTTTAGTTACATTTTCTGTCTCTTAAGTTATTGGAAGTGGTAGTTTTACCAAATGTTAAAACATCATACAACACAGGTTGTCAACTTTTCAGCCTCCAAATATTAATTCATTCACAATTAACTGTCCCATCCTAAGCATGCTTCCCTCTAGACAGAATATATTTCCCTGCCCCAATGACTTTGGCTTGGCCATTTAACTAGCTTTGTCTAATGCAATGTGAGCAGATGTAACATACACCATATCCCAGCAGAAGCTCTGAGTACACTTACATGGTTAGGTTC
Task1_train_25245
Here’s a variant in TLK2 (tousled like kinase 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Intellectual disability
GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATTCTTATAGTCTAGACTCAAGAAGAGGTCTGCCATGGGTGAACTTGAGCACAACAGATTCCAACATTGAGGGTGTGGAAACTCTTCAAGAGAATAAGCAGTTTCTTACCAGAAACCCCTCAGCTAATACTGAATAAACAATTGAAGAGTATTTTAAGGAACAAAGAAGAAAGGAGTGAGAAGCTGATGACCTGAAGTTTTCACATGGGACTAATTTAGGTAGTGTTAATCTGCTTGCTCTTATTCCATGGTTAAATATTGGTTTATTTGTCTTTAGGTTTTGTACAGTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATGTCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAATGAAATAAAACCTCCCATCATACACTATGACCTCAAACCAGGTATGTCTAACTTTTAGGAGACAGTATTAGTGGGTTTTCTTTGGTCTTATAAGTGACTTTTAATTTGATAAAGTTAGAGAATTTCACAGCAGCCAAGAAAGGCTAATAACATCTGACTTTTGATTGCCTGGGTAGGTGTGGGAAAAAAGAGTCCTGGCCAAGCAGCACTGGGTTTAGGAGGGCGTGTTGGATTAAATACTCTGGAGAAACAATACCTTTATCTTTGGAGCCAGGGCAGTTCATGATGTAAGTCTCATTAAGAAAGAACTGTTGCAGCAAGTTCAGTTTTGTTTTTTTCCCATGACTCCTACTACATAACAGTCCCTCTGCTTCAGGTCTCTTTGATAAGAGCCCCCAAATTAATAACTTATTTTTACTTATATGCCTCCCATTTCAATAAATTTCAAGCAGAATTTTTCATCTTTTTGTATGGTTATTATCTAGCTTTGATGTTCATCAGCAAAGAGTACAGGGCAGCTAGAGTCCTTACCTCTATTTTTTATTGTTATCTTCAGCTGTGTTTTAGAAATCTGCATAGTTCTATAGACAACTCTAACAGCTTAGCTTGGGCATTAGGAAGATGGTCCACATTTACCTTCTGGTGTTGCAAAATTGTAAACTTTGCTTTACTCTTCTGGTAGGTGCATATTGCGTCTCATTGACTATTCTCTAATGTTCTAATACAATTCAGATGACTAAAACATTAATTATGATGAAGAAATTTTTTAAAAGATGGCTATTTTGTGAATGAATTTTCCATAACTGAATTCAACACTTTCCTGCAATGGGAGCTGTAGGCGGTGCTGTGGTGCTAGCTTTGGTTTCCTTACATGGTTTCTTTGATTCCTCCCCCACACCCCAAGTGCTGTTCTAAACAGGGTAGTTTAGAGATCCTCACTGAAAGTTCAGATGAAAGTTTCCCATCAGTTTTGACCAAGTGAACAAGGGTATTTTACTTTGGCCAGTTATTTTTATTTCCAGAGCTCATCATAGTGGTGGTTTTGGCACATTAAGCAGGTGATTCTTGGAAAATAGAAGTTTCAGCAGATGCTGAGGACTCTCCCTGAGTATCCAGAGTCCAGATTGCTTGATTCCCAGGATTTGGATGTTTGCTTTTGCAAGAGTTTGAGTTCAGTTGTCCCCTTCTTATCTGCTATTACTTTGGGTTTTTCTCTTAAATCAGTAAGTCTCTGCTTATTCATGAAGGTTTTTATTTTTTAGGTAATATTCTTTTAGTAAATGGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTCGAAGATCATGGATGATGATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTGGTAGGTATCCAGGAGCTCTGCCAGGTTGGCTATAGAGATGTGGCTCTGCTATGCTGAAGTGTTGATAATGAATTAATTGCTGTATGCTATCTGCTAGGCAAAAATGCCATAAACCAAAGCAGACTTTCTCCCCAAATCATTACTGTCTTTTCAACAGTTTGACTCTTGGTATTTATATTAATTTGTCTTAATTTTTCTTTCCTTTCTTGAAAATCCTTAAGAAAGAGAGCTTATATGTGTCCAGGTATTTGAAATGTATGTTTTTTGTACAGAGTTGGCCTTGCAAGTCAGTAGAGAACAAGGTTGCTCATGTGTATATAAAGAATGGCCCCAAAATCTTTCCGTCCAAATACAGGTCTCTCTTCATGGGTTAATGGGATAAGGGATTTGTCTCAAGAGTTGCCTGAGGATGTTGGACTGTAGGGAGTTATGAAGATCAGGATGAAACATAACTATAGCGCATATGAAATCTATACAGGAAAAAGTGACTACAATTTACCAGAAGTTTATCCATGTCTGTTAGCCATGATCTAAAAGTTTTTGAGGCACATTTCTTCACATCTCTTGTCACCTGTCTTCCCCTAGCCACCCGCACCCAAGCTACCTCTGCCTGCCAGTTTTATGCTTCTATTTCTGCCTACTATTACCTTTGGCCATTAGAACCATAAAAGATACCTGAAACTCAGGCCTTTAACTCTATGGTTGTAAAAGTGTGTTAATAAAGCTTCCTCTTCCATTTTGAGGTGGTCACACAAGCCACATATTGGTGTATATAAAGAATGGCCCCCAGTTTTTTTTAGTCCAAATACAAGTCTCTCTTCCTGGCTTAATGGGATGAGGGATTTGCTTCAAGAGTTGCAAGAGAAGGCTCTATAGCACCAACGGAGGGGCAACACATGTTATTTGTACCCTAGGGAAGGTGGTCAAATCACTTTATCTTTGGAACTGAAAGGTCCTAGGCCTTAGCAGAGAGTACTGACTGTCTGGGAATCAGAGGTAGAGGAGGAAGCAGAGGGGCATGGCGTTCACAACACAGCATCAGCCCTGTGCTCATCGTGAAGCCTGCCAATAACACCATGGACACAATGCCCCGGTTTCTGTTGCTCCTTACTGCTTGTGGAAATGGTACCTGTTGTAAAAAGTCAGTCCCTAAATTAAAACTTTGAAATTACAGATTTAAAATAGAAGCTGCATTTACAATGTTTATTCACTGTGGTGGTTATTGTGGGCTAGTGTTCCTGTCACTAAGTGATACAAAAATATCTGCTGCTGGAAATTCTAGAAACAGGTCTATACCTCTGCTATATAAATTCACTGGAATTTGGATTTGAGCTTTGTGTTTGATCTTTTTTTTTTTAAGGCACAGTTTTTTTGCATTTAAAATAGTTACTGCTGTAGTTGCTTACCTACAAAAATTCAGTGATTAGAATTTAAGTAAAAATTATGTGATGCTAGGGATTTTGCTTCAAAGTAGTCTGTTGGGAGAAATGGTGGAGATTGGCCACATGTTGATAATTCTTGAAGCTGGATGGTGCTTACTTAGGGGGTCATTTTACTGTTCTTTCTGCTTTAGATTATAGTTGAGATTTTTAATAATTTAAGACAGGGCTTCTGAGAAGATTAAGTGTTACAGGTTTCTATGAAGGTTTGAAGAGTCTCCAAATTGGTAGAAATACTGTCATAATCACTATCTTCAGTATGTCAGATAAAAATAATCCTGAAGGGTATAACAAATTATAAGTAACTATTTGCAGTATTTACTGGTTACAGAATTCTTCTACATTGAATACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGTTTCGCTCTTGTTGCCTGGGCTGGAGTGCAATGGTGTGATCTCAACTCACTGCAGCCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGTTTACATGCACC
GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATTCTTATAGTCTAGACTCAAGAAGAGGTCTGCCATGGGTGAACTTGAGCACAACAGATTCCAACATTGAGGGTGTGGAAACTCTTCAAGAGAATAAGCAGTTTCTTACCAGAAACCCCTCAGCTAATACTGAATAAACAATTGAAGAGTATTTTAAGGAACAAAGAAGAAAGGAGTGAGAAGCTGATGACCTGAAGTTTTCACATGGGACTAATTTAGGTAGTGTTAATCTGCTTGCTCTTATTCCATGGTTAAATATTGGTTTATTTGTCTTTAGGTTTTGTACAGTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATGTCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAATGAAATAAAACCTCCCATCATACACTATGACCTCAAACCAGGTATGTCTAACTTTTAGGAGACAGTATTAGTGGGTTTTCTTTGGTCTTATAAGTGACTTTTAATTTGATAAAGTTAGAGAATTTCACAGCAGCCAAGAAAGGCTAATAACATCTGACTTTTGATTGCCTGGGTAGGTGTGGGAAAAAAGAGTCCTGGCCAAGCAGCACTGGGTTTAGGAGGGCGTGTTGGATTAAATACTCTGGAGAAACAATACCTTTATCTTTGGAGCCAGGGCAGTTCATGATGTAAGTCTCATTAAGAAAGAACTGTTGCAGCAAGTTCAGTTTTGTTTTTTTCCCATGACTCCTACTACATAACAGTCCCTCTGCTTCAGGTCTCTTTGATAAGAGCCCCCAAATTAATAACTTATTTTTACTTATATGCCTCCCATTTCAATAAATTTCAAGCAGAATTTTTCATCTTTTTGTATGGTTATTATCTAGCTTTGATGTTCATCAGCAAAGAGTACAGGGCAGCTAGAGTCCTTACCTCTATTTTTTATTGTTATCTTCAGCTGTGTTTTAGAAATCTGCATAGTTCTATAGACAACTCTAACAGCTTAGCTTGGGCATTAGGAAGATGGTCCACATTTACCTTCTGGTGTTGCAAAATTGTAAACTTTGCTTTACTCTTCTGGTAGGTGCATATTGCGTCTCATTGACTATTCTCTAATGTTCTAATACAATTCAGATGACTAAAACATTAATTATGATGAAGAAATTTTTTAAAAGATGGCTATTTTGTGAATGAATTTTCCATAACTGAATTCAACACTTTCCTGCAATGGGAGCTGTAGGCGGTGCTGTGGTGCTAGCTTTGGTTTCCTTACATGGTTTCTTTGATTCCTCCCCCACACCCCAAGTGCTGTTCTAAACAGGGTAGTTTAGAGATCCTCACTGAAAGTTCAGATGAAAGTTTCCCATCAGTTTTGACCAAGTGAACAAGGGTATTTTACTTTGGCCAGTTATTTTTATTTCCAGAGCTCATCATAGTGGTGGTTTTGGCACATTAAGCAGGTGATTCTTGGAAAATAGAAGTTTCAGCAGATGCTGAGGACTCTCCCTGAGTATCCAGAGTCCAGATTGCTTGATTCCCAGGATTTGGATGTTTGCTTTTGCAAGAGTTTGAGTTCAGTTGTCCCCTTCTTATCTGCTATTACTTTGGGTTTTTCTCTTAAATCAGTAAGTCTCTGCTTATTCATGAAGGTTTTTATTTTTTAGGTAATATTCTTTTAGTAAATGGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTTGAAGATCATGGATGATGATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTGGTAGGTATCCAGGAGCTCTGCCAGGTTGGCTATAGAGATGTGGCTCTGCTATGCTGAAGTGTTGATAATGAATTAATTGCTGTATGCTATCTGCTAGGCAAAAATGCCATAAACCAAAGCAGACTTTCTCCCCAAATCATTACTGTCTTTTCAACAGTTTGACTCTTGGTATTTATATTAATTTGTCTTAATTTTTCTTTCCTTTCTTGAAAATCCTTAAGAAAGAGAGCTTATATGTGTCCAGGTATTTGAAATGTATGTTTTTTGTACAGAGTTGGCCTTGCAAGTCAGTAGAGAACAAGGTTGCTCATGTGTATATAAAGAATGGCCCCAAAATCTTTCCGTCCAAATACAGGTCTCTCTTCATGGGTTAATGGGATAAGGGATTTGTCTCAAGAGTTGCCTGAGGATGTTGGACTGTAGGGAGTTATGAAGATCAGGATGAAACATAACTATAGCGCATATGAAATCTATACAGGAAAAAGTGACTACAATTTACCAGAAGTTTATCCATGTCTGTTAGCCATGATCTAAAAGTTTTTGAGGCACATTTCTTCACATCTCTTGTCACCTGTCTTCCCCTAGCCACCCGCACCCAAGCTACCTCTGCCTGCCAGTTTTATGCTTCTATTTCTGCCTACTATTACCTTTGGCCATTAGAACCATAAAAGATACCTGAAACTCAGGCCTTTAACTCTATGGTTGTAAAAGTGTGTTAATAAAGCTTCCTCTTCCATTTTGAGGTGGTCACACAAGCCACATATTGGTGTATATAAAGAATGGCCCCCAGTTTTTTTTAGTCCAAATACAAGTCTCTCTTCCTGGCTTAATGGGATGAGGGATTTGCTTCAAGAGTTGCAAGAGAAGGCTCTATAGCACCAACGGAGGGGCAACACATGTTATTTGTACCCTAGGGAAGGTGGTCAAATCACTTTATCTTTGGAACTGAAAGGTCCTAGGCCTTAGCAGAGAGTACTGACTGTCTGGGAATCAGAGGTAGAGGAGGAAGCAGAGGGGCATGGCGTTCACAACACAGCATCAGCCCTGTGCTCATCGTGAAGCCTGCCAATAACACCATGGACACAATGCCCCGGTTTCTGTTGCTCCTTACTGCTTGTGGAAATGGTACCTGTTGTAAAAAGTCAGTCCCTAAATTAAAACTTTGAAATTACAGATTTAAAATAGAAGCTGCATTTACAATGTTTATTCACTGTGGTGGTTATTGTGGGCTAGTGTTCCTGTCACTAAGTGATACAAAAATATCTGCTGCTGGAAATTCTAGAAACAGGTCTATACCTCTGCTATATAAATTCACTGGAATTTGGATTTGAGCTTTGTGTTTGATCTTTTTTTTTTTAAGGCACAGTTTTTTTGCATTTAAAATAGTTACTGCTGTAGTTGCTTACCTACAAAAATTCAGTGATTAGAATTTAAGTAAAAATTATGTGATGCTAGGGATTTTGCTTCAAAGTAGTCTGTTGGGAGAAATGGTGGAGATTGGCCACATGTTGATAATTCTTGAAGCTGGATGGTGCTTACTTAGGGGGTCATTTTACTGTTCTTTCTGCTTTAGATTATAGTTGAGATTTTTAATAATTTAAGACAGGGCTTCTGAGAAGATTAAGTGTTACAGGTTTCTATGAAGGTTTGAAGAGTCTCCAAATTGGTAGAAATACTGTCATAATCACTATCTTCAGTATGTCAGATAAAAATAATCCTGAAGGGTATAACAAATTATAAGTAACTATTTGCAGTATTTACTGGTTACAGAATTCTTCTACATTGAATACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGTTTCGCTCTTGTTGCCTGGGCTGGAGTGCAATGGTGTGATCTCAACTCACTGCAGCCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGTTTACATGCACC
Task1_train_25246
Here is a genetic alteration in TLK2 (tousled like kinase 2) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Intellectual disability, autosomal dominant 57
GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATTCTTATAGTCTAGACTCAAGAAGAGGTCTGCCATGGGTGAACTTGAGCACAACAGATTCCAACATTGAGGGTGTGGAAACTCTTCAAGAGAATAAGCAGTTTCTTACCAGAAACCCCTCAGCTAATACTGAATAAACAATTGAAGAGTATTTTAAGGAACAAAGAAGAAAGGAGTGAGAAGCTGATGACCTGAAGTTTTCACATGGGACTAATTTAGGTAGTGTTAATCTGCTTGCTCTTATTCCATGGTTAAATATTGGTTTATTTGTCTTTAGGTTTTGTACAGTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATGTCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAATGAAATAAAACCTCCCATCATACACTATGACCTCAAACCAGGTATGTCTAACTTTTAGGAGACAGTATTAGTGGGTTTTCTTTGGTCTTATAAGTGACTTTTAATTTGATAAAGTTAGAGAATTTCACAGCAGCCAAGAAAGGCTAATAACATCTGACTTTTGATTGCCTGGGTAGGTGTGGGAAAAAAGAGTCCTGGCCAAGCAGCACTGGGTTTAGGAGGGCGTGTTGGATTAAATACTCTGGAGAAACAATACCTTTATCTTTGGAGCCAGGGCAGTTCATGATGTAAGTCTCATTAAGAAAGAACTGTTGCAGCAAGTTCAGTTTTGTTTTTTTCCCATGACTCCTACTACATAACAGTCCCTCTGCTTCAGGTCTCTTTGATAAGAGCCCCCAAATTAATAACTTATTTTTACTTATATGCCTCCCATTTCAATAAATTTCAAGCAGAATTTTTCATCTTTTTGTATGGTTATTATCTAGCTTTGATGTTCATCAGCAAAGAGTACAGGGCAGCTAGAGTCCTTACCTCTATTTTTTATTGTTATCTTCAGCTGTGTTTTAGAAATCTGCATAGTTCTATAGACAACTCTAACAGCTTAGCTTGGGCATTAGGAAGATGGTCCACATTTACCTTCTGGTGTTGCAAAATTGTAAACTTTGCTTTACTCTTCTGGTAGGTGCATATTGCGTCTCATTGACTATTCTCTAATGTTCTAATACAATTCAGATGACTAAAACATTAATTATGATGAAGAAATTTTTTAAAAGATGGCTATTTTGTGAATGAATTTTCCATAACTGAATTCAACACTTTCCTGCAATGGGAGCTGTAGGCGGTGCTGTGGTGCTAGCTTTGGTTTCCTTACATGGTTTCTTTGATTCCTCCCCCACACCCCAAGTGCTGTTCTAAACAGGGTAGTTTAGAGATCCTCACTGAAAGTTCAGATGAAAGTTTCCCATCAGTTTTGACCAAGTGAACAAGGGTATTTTACTTTGGCCAGTTATTTTTATTTCCAGAGCTCATCATAGTGGTGGTTTTGGCACATTAAGCAGGTGATTCTTGGAAAATAGAAGTTTCAGCAGATGCTGAGGACTCTCCCTGAGTATCCAGAGTCCAGATTGCTTGATTCCCAGGATTTGGATGTTTGCTTTTGCAAGAGTTTGAGTTCAGTTGTCCCCTTCTTATCTGCTATTACTTTGGGTTTTTCTCTTAAATCAGTAAGTCTCTGCTTATTCATGAAGGTTTTTATTTTTTAGGTAATATTCTTTTAGTAAATGGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTCGAAGATCATGGATGATGATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTGGTAGGTATCCAGGAGCTCTGCCAGGTTGGCTATAGAGATGTGGCTCTGCTATGCTGAAGTGTTGATAATGAATTAATTGCTGTATGCTATCTGCTAGGCAAAAATGCCATAAACCAAAGCAGACTTTCTCCCCAAATCATTACTGTCTTTTCAACAGTTTGACTCTTGGTATTTATATTAATTTGTCTTAATTTTTCTTTCCTTTCTTGAAAATCCTTAAGAAAGAGAGCTTATATGTGTCCAGGTATTTGAAATGTATGTTTTTTGTACAGAGTTGGCCTTGCAAGTCAGTAGAGAACAAGGTTGCTCATGTGTATATAAAGAATGGCCCCAAAATCTTTCCGTCCAAATACAGGTCTCTCTTCATGGGTTAATGGGATAAGGGATTTGTCTCAAGAGTTGCCTGAGGATGTTGGACTGTAGGGAGTTATGAAGATCAGGATGAAACATAACTATAGCGCATATGAAATCTATACAGGAAAAAGTGACTACAATTTACCAGAAGTTTATCCATGTCTGTTAGCCATGATCTAAAAGTTTTTGAGGCACATTTCTTCACATCTCTTGTCACCTGTCTTCCCCTAGCCACCCGCACCCAAGCTACCTCTGCCTGCCAGTTTTATGCTTCTATTTCTGCCTACTATTACCTTTGGCCATTAGAACCATAAAAGATACCTGAAACTCAGGCCTTTAACTCTATGGTTGTAAAAGTGTGTTAATAAAGCTTCCTCTTCCATTTTGAGGTGGTCACACAAGCCACATATTGGTGTATATAAAGAATGGCCCCCAGTTTTTTTTAGTCCAAATACAAGTCTCTCTTCCTGGCTTAATGGGATGAGGGATTTGCTTCAAGAGTTGCAAGAGAAGGCTCTATAGCACCAACGGAGGGGCAACACATGTTATTTGTACCCTAGGGAAGGTGGTCAAATCACTTTATCTTTGGAACTGAAAGGTCCTAGGCCTTAGCAGAGAGTACTGACTGTCTGGGAATCAGAGGTAGAGGAGGAAGCAGAGGGGCATGGCGTTCACAACACAGCATCAGCCCTGTGCTCATCGTGAAGCCTGCCAATAACACCATGGACACAATGCCCCGGTTTCTGTTGCTCCTTACTGCTTGTGGAAATGGTACCTGTTGTAAAAAGTCAGTCCCTAAATTAAAACTTTGAAATTACAGATTTAAAATAGAAGCTGCATTTACAATGTTTATTCACTGTGGTGGTTATTGTGGGCTAGTGTTCCTGTCACTAAGTGATACAAAAATATCTGCTGCTGGAAATTCTAGAAACAGGTCTATACCTCTGCTATATAAATTCACTGGAATTTGGATTTGAGCTTTGTGTTTGATCTTTTTTTTTTTAAGGCACAGTTTTTTTGCATTTAAAATAGTTACTGCTGTAGTTGCTTACCTACAAAAATTCAGTGATTAGAATTTAAGTAAAAATTATGTGATGCTAGGGATTTTGCTTCAAAGTAGTCTGTTGGGAGAAATGGTGGAGATTGGCCACATGTTGATAATTCTTGAAGCTGGATGGTGCTTACTTAGGGGGTCATTTTACTGTTCTTTCTGCTTTAGATTATAGTTGAGATTTTTAATAATTTAAGACAGGGCTTCTGAGAAGATTAAGTGTTACAGGTTTCTATGAAGGTTTGAAGAGTCTCCAAATTGGTAGAAATACTGTCATAATCACTATCTTCAGTATGTCAGATAAAAATAATCCTGAAGGGTATAACAAATTATAAGTAACTATTTGCAGTATTTACTGGTTACAGAATTCTTCTACATTGAATACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGTTTCGCTCTTGTTGCCTGGGCTGGAGTGCAATGGTGTGATCTCAACTCACTGCAGCCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGTTTACATGCACC
GTGCAGTATTGTGCCAAGCTGTCAGAAGACGTAGTATGCAGTCAGTTTTTGGGACGTGGGCAAACTCTAGATTCTTACTCATTGCCAGCACTCAGGGTTATATAAAATGTTTGCAGTGCGAATTGTGTACCTAGCCAAAATTGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACGGAGTCTCAAAAAAAAAAAGAGAGAATTGTGTACTTGATCACATTCTGGTTGTTTAGACGTGGATGTGTGGCATGGGTGTGTAAAGGAGCCCCTTCCAAGAAGATACCTAGCTTAAATACATTATAGTTCTTATCAGTATTCTTATAGTCTAGACTCAAGAAGAGGTCTGCCATGGGTGAACTTGAGCACAACAGATTCCAACATTGAGGGTGTGGAAACTCTTCAAGAGAATAAGCAGTTTCTTACCAGAAACCCCTCAGCTAATACTGAATAAACAATTGAAGAGTATTTTAAGGAACAAAGAAGAAAGGAGTGAGAAGCTGATGACCTGAAGTTTTCACATGGGACTAATTTAGGTAGTGTTAATCTGCTTGCTCTTATTCCATGGTTAAATATTGGTTTATTTGTCTTTAGGTTTTGTACAGTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATGTCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAATGAAATAAAACCTCCCATCATACACTATGACCTCAAACCAGGTATGTCTAACTTTTAGGAGACAGTATTAGTGGGTTTTCTTTGGTCTTATAAGTGACTTTTAATTTGATAAAGTTAGAGAATTTCACAGCAGCCAAGAAAGGCTAATAACATCTGACTTTTGATTGCCTGGGTAGGTGTGGGAAAAAAGAGTCCTGGCCAAGCAGCACTGGGTTTAGGAGGGCGTGTTGGATTAAATACTCTGGAGAAACAATACCTTTATCTTTGGAGCCAGGGCAGTTCATGATGTAAGTCTCATTAAGAAAGAACTGTTGCAGCAAGTTCAGTTTTGTTTTTTTCCCATGACTCCTACTACATAACAGTCCCTCTGCTTCAGGTCTCTTTGATAAGAGCCCCCAAATTAATAACTTATTTTTACTTATATGCCTCCCATTTCAATAAATTTCAAGCAGAATTTTTCATCTTTTTGTATGGTTATTATCTAGCTTTGATGTTCATCAGCAAAGAGTACAGGGCAGCTAGAGTCCTTACCTCTATTTTTTATTGTTATCTTCAGCTGTGTTTTAGAAATCTGCATAGTTCTATAGACAACTCTAACAGCTTAGCTTGGGCATTAGGAAGATGGTCCACATTTACCTTCTGGTGTTGCAAAATTGTAAACTTTGCTTTACTCTTCTGGTAGGTGCATATTGCGTCTCATTGACTATTCTCTAATGTTCTAATACAATTCAGATGACTAAAACATTAATTATGATGAAGAAATTTTTTAAAAGATGGCTATTTTGTGAATGAATTTTCCATAACTGAATTCAACACTTTCCTGCAATGGGAGCTGTAGGCGGTGCTGTGGTGCTAGCTTTGGTTTCCTTACATGGTTTCTTTGATTCCTCCCCCACACCCCAAGTGCTGTTCTAAACAGGGTAGTTTAGAGATCCTCACTGAAAGTTCAGATGAAAGTTTCCCATCAGTTTTGACCAAGTGAACAAGGGTATTTTACTTTGGCCAGTTATTTTTATTTCCAGAGCTCATCATAGTGGTGGTTTTGGCACATTAAGCAGGTGATTCTTGGAAAATAGAAGTTTCAGCAGATGCTGAGGACTCTCCCTGAGTATCCAGAGTCCAGATTGCTTGATTCCCAGGATTTGGATGTTTGCTTTTGCAAGAGTTTGAGTTCAGTTGTCCCCTTCTTATCTGCTATTACTTTGGGTTTTTCTCTTAAATCAGTAAGTCTCTGCTTATTCATGAAGGTTTTTATTTTTTAGGTAATATTCTTTTAGTAAATGGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTTGAAGATCATGGATGATGATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTGGTAGGTATCCAGGAGCTCTGCCAGGTTGGCTATAGAGATGTGGCTCTGCTATGCTGAAGTGTTGATAATGAATTAATTGCTGTATGCTATCTGCTAGGCAAAAATGCCATAAACCAAAGCAGACTTTCTCCCCAAATCATTACTGTCTTTTCAACAGTTTGACTCTTGGTATTTATATTAATTTGTCTTAATTTTTCTTTCCTTTCTTGAAAATCCTTAAGAAAGAGAGCTTATATGTGTCCAGGTATTTGAAATGTATGTTTTTTGTACAGAGTTGGCCTTGCAAGTCAGTAGAGAACAAGGTTGCTCATGTGTATATAAAGAATGGCCCCAAAATCTTTCCGTCCAAATACAGGTCTCTCTTCATGGGTTAATGGGATAAGGGATTTGTCTCAAGAGTTGCCTGAGGATGTTGGACTGTAGGGAGTTATGAAGATCAGGATGAAACATAACTATAGCGCATATGAAATCTATACAGGAAAAAGTGACTACAATTTACCAGAAGTTTATCCATGTCTGTTAGCCATGATCTAAAAGTTTTTGAGGCACATTTCTTCACATCTCTTGTCACCTGTCTTCCCCTAGCCACCCGCACCCAAGCTACCTCTGCCTGCCAGTTTTATGCTTCTATTTCTGCCTACTATTACCTTTGGCCATTAGAACCATAAAAGATACCTGAAACTCAGGCCTTTAACTCTATGGTTGTAAAAGTGTGTTAATAAAGCTTCCTCTTCCATTTTGAGGTGGTCACACAAGCCACATATTGGTGTATATAAAGAATGGCCCCCAGTTTTTTTTAGTCCAAATACAAGTCTCTCTTCCTGGCTTAATGGGATGAGGGATTTGCTTCAAGAGTTGCAAGAGAAGGCTCTATAGCACCAACGGAGGGGCAACACATGTTATTTGTACCCTAGGGAAGGTGGTCAAATCACTTTATCTTTGGAACTGAAAGGTCCTAGGCCTTAGCAGAGAGTACTGACTGTCTGGGAATCAGAGGTAGAGGAGGAAGCAGAGGGGCATGGCGTTCACAACACAGCATCAGCCCTGTGCTCATCGTGAAGCCTGCCAATAACACCATGGACACAATGCCCCGGTTTCTGTTGCTCCTTACTGCTTGTGGAAATGGTACCTGTTGTAAAAAGTCAGTCCCTAAATTAAAACTTTGAAATTACAGATTTAAAATAGAAGCTGCATTTACAATGTTTATTCACTGTGGTGGTTATTGTGGGCTAGTGTTCCTGTCACTAAGTGATACAAAAATATCTGCTGCTGGAAATTCTAGAAACAGGTCTATACCTCTGCTATATAAATTCACTGGAATTTGGATTTGAGCTTTGTGTTTGATCTTTTTTTTTTTAAGGCACAGTTTTTTTGCATTTAAAATAGTTACTGCTGTAGTTGCTTACCTACAAAAATTCAGTGATTAGAATTTAAGTAAAAATTATGTGATGCTAGGGATTTTGCTTCAAAGTAGTCTGTTGGGAGAAATGGTGGAGATTGGCCACATGTTGATAATTCTTGAAGCTGGATGGTGCTTACTTAGGGGGTCATTTTACTGTTCTTTCTGCTTTAGATTATAGTTGAGATTTTTAATAATTTAAGACAGGGCTTCTGAGAAGATTAAGTGTTACAGGTTTCTATGAAGGTTTGAAGAGTCTCCAAATTGGTAGAAATACTGTCATAATCACTATCTTCAGTATGTCAGATAAAAATAATCCTGAAGGGTATAACAAATTATAAGTAACTATTTGCAGTATTTACTGGTTACAGAATTCTTCTACATTGAATACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGTTTCGCTCTTGTTGCCTGGGCTGGAGTGCAATGGTGTGATCTCAACTCACTGCAGCCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGTTTACATGCACC
Task1_train_25247
A variant affecting Chromosome 17, within the gene CYB561 (cytochrome b561), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Orthostatic hypotension 2
CCTGGCCTTGCCCCAGGCATCTGCTGCCAGGAGGGTGGGGCCTCCTCTCTCGCTTCTTTAAAGATCTGTGCTCTGCGACCAGGACCGAACACCCGAAGTCCTACCCAAAGCCTTCTGCACTGAAGGGGGCAACAGAGACACGGGAGCCACACACAATGAACTGGTCTATAGCAGCGGAGAAAGGAGAAGCAGAGGAGGCGGAGACCTGACCCCAGAAAGCAGCACTCAAACAGATGCAGCTGCACCCACGCGCCCGCCTGCTGCCAGAGCCACTCTCCGGAGCCTGCAGTCCTGAAGACGCCTCAGCAGGGGCAGGCAAGAAGACACCCCGCGAACCCCCAGGGCCGGCCGGGCGCATCACTGGGAGCCGGGGCTATCTCCCTCCGTCAGCGTCTTGAAGTCCATGGAGAGGGCCTGCTCTTCCGCCTGGGAAGGCCGCTTCCAGTCGGCCCGGGTCAAGATGTAGAGCACCGCCCCACCGAAGCAGGCCAGCAGCAGGCCCAGCACGTTGGCCAGGACACCCTCGGGCTCAAATGCGCTATACTTGCCCCTGCAGGGGTGAGAGGAAGGGAGAAGCTGCCCAAGGGGTCACAATTAGGCCAAATGCCCTTTGTATCCTGGGCCTTAAAGATGCCATGGGGATTCCAGCACCAGCCCCTGCCTCCCTGCCCTGCCTGAAGAGAACAACCATCCCCCCGCCCCCAACCAGCAATCTCCAGCTATGGCTCACAGACAAAAAGAGATGGGCAATGTAAAAACCTAGATCAATATTCTAGCTCTAAGCAGTTGTCCTGCAGATCCTGCTGCGTGGTGGGAATAAATAGGGTGCCCATAGCCCAGAAGTTTCTTTGAAAGGGTAAAATCAAGAAAGCTAACCAAAGCCAAGCCCCAAGCACCCAAATCTTAGCAAGCATAACTACAGCCACCAGTTGTGACGCCACGAGAGGCGGCTCAGGAAGCCACAGCTGGGGAAGCTGAAGGCAGGGTGAGGTCTGTGCAAGGGTGGCCCAGGCCCTGCCCTCTCCCACCCAGGACACTCACCCGAGGTTGAACAGCAGTGCCTCCTTCAGGCCCAGCAGGGCGGTGCCCACGGAAAGGAGGAAGATGGTAGCACCAAAGAAGATGTGCTGTGGGCGGTAGCGGCTCCGCAGGGAGAATGAAGCTCCGGGGAACAGGAAGAAGCTGAAGCCCACCAGCCACTAGGATTTGAAAGGAGACGGTTCCGGGACAGGGCGGCCGGACACCCCAGCAGCCGAGGTCGGCCAGGCCCACACCCACGTGCCCACGTGGCGACTGTGAGCCCCTCAGCCCTGCCTGGTTTCCTTCCTCCTCAGCACAGTGGTGGGAGGAGCACTAAGCGCTTAGGGACAAGGGACCGGTCCCCCAACGCTTGAGGCCTTGGCACACTCAGAAAGCTGGGCTTGTGGCCAAAAGTGCTGAGTCAGCCATGGGGCGCCTGGGAGCTGGGCACCCTTGGCCGCCAATCCTAGCTTTGCACCCGCACAGGCCTGGGAAGGCAGCTCTCTCACCTGCACACACCCCAGAAATCAGGCCCTTCCATGAGGTACATTTCAGCCCAGCTCCCCTCCTCCTCCCACCTCCCTGGTAGGTGGCCCCAGGCCCGGGGTGTTGGAAGGACTCACCTGCACAAAGTACAGGACAAAGACAAGGATCCCGCACCAGCTGTGTAGGCTGTACAGGTCAGCGTAGCCCTTCTTCCTGTGGTAGTCGAACACCGCCACCAAGCCTGGGCCAGAGACAGGTCATATGAGGACAGGGTTGGATGTGGAAAAGGAAGGTGTAAGATGACCCAGGGGAACCAGCTAGCGGGACTTCTGGGCTTTAGTCCCAGCTCGAGGGCTGCCAGCACCTAGTGGCCCTGCAGGGGATGTTTGGGGTGGGGGCGGGCCCATCACAGCTCTGGGGAGGGAACAGAGCAGGTGAAGCGGCTGTTTGCCATACCTGAAGAGGCAGGCAGGTGGCGGGGAAGGCCGCGCCCGGGAACTCACCAACCAGGGCGATGACGAGCGCAAAGATGTGCAGCAGCCCGTGCAGGACCTTGGTGGTGCGTTTAGCTTCGTTCCTGAAGACACGGTAAACCAGCAGGGCTGTGGGAGGTGAGAGAGGGAACGTGAGTGCATCCGCCTGTGCGTGAGGCCTCCTGCCCCAGCAGCAAGGAGGCACCTTGGTGGAGAGGTGATGTGAGCTGACGGCTTGTAACAGGAGCCTAGCTGCAGGAACCGGAGGAGAAAGCCAGGTTCCCTGGGGACCCTGGGCAGCTCCTGGCCTTCTCTGAGGGCACCTAGGGCTGTGTGCACCTTAACACCCCTCCCCCACCCTCCAACCTCCCCCAGCTGTGCACAAAGAGGGCAGGGCCGGAGGCTGCACCACAGTCCCCACCACCAGGACAGGCAGTGAAGGCAGCGCCTCTGCCCTCGTCCCCACCTAAAGGAGCTGCCCGGCCCAGCAGACGCCCCCCTCCACCCACCTTCTTGTCAGGTGTCCTGCAAATTCCAGGCTGTGTTTGAGGTCCACTGTTGGTCACACTGAGGCAACAAGCAGCCTCTGAGTTCACCTGTTAGCCACGTGGCTCCTCACACAGGCCCCCACCTAAGCCTGGGCAGATGGTCCTACTCCTAGCAAGCAGGCGCCTGGCTCCCAAGCAGAACCTTGTGATCCCAGCCTGATCTCCCGCGTCCAGAAGAGGTGGGCAAGGCCAGGTCACGTGAGGAATGCCTCTTAGCTTTCTGCTGCTCAGGAATGGCTGTCACCAGGACCACCTCTAGGAAGAGCGGGTCAACCGGATGCAGATCCCGCTTCCTGGATCCCTGGCCTGGAGGCAGGTGGAGGCCAAGCACTGCCTTGCTCCTGCCCCAGGGGGAGGCGCTCTAGCTCTGCCAAGTCCAAGACCAACAACACACATGCGCGCGCACGCACGCACGCATACAAACTCTCACATATGATTACTTTTTTTCCCTCAATTCAAACCACCCCTGCAGCAGGGCCTGGCTCGGAGCCTCATTCCTTTCCCTCTGCTGCAAGAAGTGCCCGCCTTGGATGCTGTGTGTGGAAACGAGGTGAAAATGCTGGACCAGGCTGGAGAGGAGCTGCCACTCACCAACCTCAGAGCCTGGGTTTGGATTCCATCTCCCCAGGCTCTGAACCAGCTTCTGTCTCTGTCTTTTCTAGAATCTTAGATTTGTCCAACCAGAAGAGACCGCAGGGGTGACAAGACCCCTGCAAACTGCCTCTCAGGGACCCCCACAAGCCCGGGAAAAGAGGAGCGGCCCATGGGACTCACCATTTCCCTGCAGGAAGATCAGGCCTATGACCATGCAGAGGGGGTGCGCGTTGAACTGCAGGTCGCTCTCCCAGGCAATGCCGCCTCGGTACAGCCCGAGCCACGCGCCGGTCATGGCCACCAAGGTCAGGCCCAGCAGCTGGGAGAAGGCCACGTAGTAAGGCAGTGCTGTGGGGGTGGCTGCCGCGGCCCCGCCCTCCATGCTGAGGCAAACGCTGCAAGAAAGAGCAGAGCTCAGAGGAGCAGCGCACAGCACCCCGAGATGCGCACAGCCCCCGCGGATGCACACAGCCCCCCAAGATGCGCACAGGCCCCCCGAGATGTACACACCCCTCAAGATGCGCACAGCCGCCCCCGGAGATAAGCACGGTCCCCCCAGATATGCACAGCCCCCCCCGAAATGCGCACAGCCGCCCCTGCTAGATGCGCGCAACACCCCCCCCGGGTTGCGCACAGCCCCCTCCAGATGCGCACAGCCACCCCGCTAGATGGGCACAGCCCCCCCGAGATGCACACAGCACCCCCAGATGCGAGCAGCCCCCCTGAGATGCGCATGTCCCCCCCACGGATGCGCACAGCCCCTAGAGACTGCGCCTGAGATGCGGCGCGGCTCCTCCCACGGCGGCCCCGCCACCCTCCCCCGAGGCTCCCGCTGGAAGCAGCGCTCGCTCTCCTACCCGCAAGCCCCTTCCCACCCATCGTCCTGAGGCAGAGGTCTCAAGTCTCGGGAGTGGCTGGGGGGAGGGGCCCAGCCTCCCCACGGGGACAGGCGTGACCTGGGACACGACGCCAGGA
CCTGGCCTTGCCCCAGGCATCTGCTGCCAGGAGGGTGGGGCCTCCTCTCTCGCTTCTTTAAAGATCTGTGCTCTGCGACCAGGACCGAACACCCGAAGTCCTACCCAAAGCCTTCTGCACTGAAGGGGGCAACAGAGACACGGGAGCCACACACAATGAACTGGTCTATAGCAGCGGAGAAAGGAGAAGCAGAGGAGGCGGAGACCTGACCCCAGAAAGCAGCACTCAAACAGATGCAGCTGCACCCACGCGCCCGCCTGCTGCCAGAGCCACTCTCCGGAGCCTGCAGTCCTGAAGACGCCTCAGCAGGGGCAGGCAAGAAGACACCCCGCGAACCCCCAGGGCCGGCCGGGCGCATCACTGGGAGCCGGGGCTATCTCCCTCCGTCAGCGTCTTGAAGTCCATGGAGAGGGCCTGCTCTTCCGCCTGGGAAGGCCGCTTCCAGTCGGCCCGGGTCAAGATGTAGAGCACCGCCCCACCGAAGCAGGCCAGCAGCAGGCCCAGCACGTTGGCCAGGACACCCTCGGGCTCAAATGCGCTATACTTGCCCCTGCAGGGGTGAGAGGAAGGGAGAAGCTGCCCAAGGGGTCACAATTAGGCCAAATGCCCTTTGTATCCTGGGCCTTAAAGATGCCATGGGGATTCCAGCACCAGCCCCTGCCTCCCTGCCCTGCCTGAAGAGAACAACCATCCCCCCGCCCCCAACCAGCAATCTCCAGCTATGGCTCACAGACAAAAAGAGATGGGCAATGTAAAAACCTAGATCAATATTCTAGCTCTAAGCAGTTGTCCTGCAGATCCTGCTGCGTGGTGGGAATAAATAGGGTGCCCATAGCCCAGAAGTTTCTTTGAAAGGGTAAAATCAAGAAAGCTAACCAAAGCCAAGCCCCAAGCACCCAAATCTTAGCAAGCATAACTACAGCCACCAGTTGTGACGCCACGAGAGGCGGCTCAGGAAGCCACAGCTGGGGAAGCTGAAGGCAGGGTGAGGTCTGTGCAAGGGTGGCCCAGGCCCTGCCCTCTCCCACCCAGGACACTCACCCGAGGTTGAACAGCAGTGCCTCCTTCAGGCCCAGCAGGGCGGTGCCCACGGAAAGGAGGAAGATGGTAGCACCAAAGAAGATGTGCTGTGGGCGGTAGCGGCTCCGCAGGGAGAATGAAGCTCCGGGGAACAGGAAGAAGCTGAAGCCCACCAGCCACTAGGATTTGAAAGGAGACGGTTCCGGGACAGGGCGGCCGGACACCCCAGCAGCCGAGGTCGGCCAGGCCCACACCCACGTGCCCACGTGGCGACTGTGAGCCCCTCAGCCCTGCCTGGTTTCCTTCCTCCTCAGCACAGTGGTGGGAGGAGCACTAAGCGCTTAGGGACAAGGGACCGGTCCCCCAACGCTTGAGGCCTTGGCACACTCAGAAAGCTGGGCTTGTGGCCAAAAGTGCTGAGTCAGCCATGGGGCGCCTGGGAGCTGGGCACCCTTGGCCGCCAATCCTAGCTTTGCACCCGCACAGGCCTGGGAAGGCAGCTCTCTCACCTGCACACACCCCAGAAATCAGGCCCTTCCATGAGGTACATTTCAGCCCAGCTCCCCTCCTCCTCCCACCTCCCTGGTAGGTGGCCCCAGGCCCGGGGTGTTGGAAGGACTCACCTGCACAAAGTACAGGACAAAGACAAGGATCCCGCACCAGCTGTGTAGGCTGTACAGGTCAGCGTAGCCCTTCTTCCTGTGGTAGTCGAACACCGCCACCAAGCCTGGGCCAGAGACAGGTCATATGAGGACAGGGTTGGATGTGGAAAAGGAAGGTGTAAGATGACCCAGGGGAACCAGCTAGCGGGACTTCTGGGCTTTAGTCCCAGCTCGAGGGCTGCCAGCACCTAGTGGCCCTGCAGGGGATGTTTGGGGTGGGGGCGGGCCCATCACAGCTCTGGGGAGGGAACAGAGCAGGTGAAGCGGCTGTTTGCCATACCTGAAGAGGCAGGCAGGTGGCGGGGAAGGCCGCGCCCGGGAACTCACCAACCAGGGCGATGACGAGCGCAAAGATGTGCAGCAGCCTGTGCAGGACCTTGGTGGTGCGTTTAGCTTCGTTCCTGAAGACACGGTAAACCAGCAGGGCTGTGGGAGGTGAGAGAGGGAACGTGAGTGCATCCGCCTGTGCGTGAGGCCTCCTGCCCCAGCAGCAAGGAGGCACCTTGGTGGAGAGGTGATGTGAGCTGACGGCTTGTAACAGGAGCCTAGCTGCAGGAACCGGAGGAGAAAGCCAGGTTCCCTGGGGACCCTGGGCAGCTCCTGGCCTTCTCTGAGGGCACCTAGGGCTGTGTGCACCTTAACACCCCTCCCCCACCCTCCAACCTCCCCCAGCTGTGCACAAAGAGGGCAGGGCCGGAGGCTGCACCACAGTCCCCACCACCAGGACAGGCAGTGAAGGCAGCGCCTCTGCCCTCGTCCCCACCTAAAGGAGCTGCCCGGCCCAGCAGACGCCCCCCTCCACCCACCTTCTTGTCAGGTGTCCTGCAAATTCCAGGCTGTGTTTGAGGTCCACTGTTGGTCACACTGAGGCAACAAGCAGCCTCTGAGTTCACCTGTTAGCCACGTGGCTCCTCACACAGGCCCCCACCTAAGCCTGGGCAGATGGTCCTACTCCTAGCAAGCAGGCGCCTGGCTCCCAAGCAGAACCTTGTGATCCCAGCCTGATCTCCCGCGTCCAGAAGAGGTGGGCAAGGCCAGGTCACGTGAGGAATGCCTCTTAGCTTTCTGCTGCTCAGGAATGGCTGTCACCAGGACCACCTCTAGGAAGAGCGGGTCAACCGGATGCAGATCCCGCTTCCTGGATCCCTGGCCTGGAGGCAGGTGGAGGCCAAGCACTGCCTTGCTCCTGCCCCAGGGGGAGGCGCTCTAGCTCTGCCAAGTCCAAGACCAACAACACACATGCGCGCGCACGCACGCACGCATACAAACTCTCACATATGATTACTTTTTTTCCCTCAATTCAAACCACCCCTGCAGCAGGGCCTGGCTCGGAGCCTCATTCCTTTCCCTCTGCTGCAAGAAGTGCCCGCCTTGGATGCTGTGTGTGGAAACGAGGTGAAAATGCTGGACCAGGCTGGAGAGGAGCTGCCACTCACCAACCTCAGAGCCTGGGTTTGGATTCCATCTCCCCAGGCTCTGAACCAGCTTCTGTCTCTGTCTTTTCTAGAATCTTAGATTTGTCCAACCAGAAGAGACCGCAGGGGTGACAAGACCCCTGCAAACTGCCTCTCAGGGACCCCCACAAGCCCGGGAAAAGAGGAGCGGCCCATGGGACTCACCATTTCCCTGCAGGAAGATCAGGCCTATGACCATGCAGAGGGGGTGCGCGTTGAACTGCAGGTCGCTCTCCCAGGCAATGCCGCCTCGGTACAGCCCGAGCCACGCGCCGGTCATGGCCACCAAGGTCAGGCCCAGCAGCTGGGAGAAGGCCACGTAGTAAGGCAGTGCTGTGGGGGTGGCTGCCGCGGCCCCGCCCTCCATGCTGAGGCAAACGCTGCAAGAAAGAGCAGAGCTCAGAGGAGCAGCGCACAGCACCCCGAGATGCGCACAGCCCCCGCGGATGCACACAGCCCCCCAAGATGCGCACAGGCCCCCCGAGATGTACACACCCCTCAAGATGCGCACAGCCGCCCCCGGAGATAAGCACGGTCCCCCCAGATATGCACAGCCCCCCCCGAAATGCGCACAGCCGCCCCTGCTAGATGCGCGCAACACCCCCCCCGGGTTGCGCACAGCCCCCTCCAGATGCGCACAGCCACCCCGCTAGATGGGCACAGCCCCCCCGAGATGCACACAGCACCCCCAGATGCGAGCAGCCCCCCTGAGATGCGCATGTCCCCCCCACGGATGCGCACAGCCCCTAGAGACTGCGCCTGAGATGCGGCGCGGCTCCTCCCACGGCGGCCCCGCCACCCTCCCCCGAGGCTCCCGCTGGAAGCAGCGCTCGCTCTCCTACCCGCAAGCCCCTTCCCACCCATCGTCCTGAGGCAGAGGTCTCAAGTCTCGGGAGTGGCTGGGGGGAGGGGCCCAGCCTCCCCACGGGGACAGGCGTGACCTGGGACACGACGCCAGGA
Task1_train_25248
Assess the clinical impact of this variant on gene ACE (angiotensin I converting enzyme), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Renal tubular dysgenesis of genetic origin
CCAGGGTCTATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAGAGCAGGGTGGCTCCTGGGAGGAGAGCCCAGGCCACCACCTTGCCCTCCCTGGCCCCTGGCCTTCGATGGGGCTGCTCTGATCACAAACGTCCACCAACGTAGCCGGCCCAGAAGTGCACCCATGTCCTCTGGTATCCACTGGCTCTCCAAGCCAAACTGGGCAGGGAGGAGTTGTGAGGGAAAACTGCAGGTCAGGAGGGAGGCTGGCAAAGCGGGCCAGGGCCAGGCCTGACCCCAGCTCTCCTCTCCCGGCCCCACTGCCGGCCAGTGTTTAACAAGGCCCTGCCTTCTCCCTCTAGTGCTAGGGACAGCCACCTTCTTCCTCTCCCCACCGCCCCCTCTCCCCTGCAACACGTCATCTGACAAGTCAGTGCGATCTCACTGGAGGTGCATCTCACAGGAACGCGGGGTCACAGCCTCCTGCACACACTCCATGCTGCACAGCAAGGTGCACGTGTCCCTCAGAGCCCCAGACACCATCCCCCACTCACCCAGAAGCCCAAGTGATTCCCAACAGCCCCCAGCAGCCTAATGGGTTGGGGTCTTGGGAGCAGCTGTCCCTGGCTCCTTCCCTGATCCCACCGCCCAGCCTCACCCCACGGTTCCTCCATTGCCCCACCTCCCACTGCGCCGCCGGGCCTCTGCCAGGGTCAAGGGGCTTCCCCCCTCTGGCAGCAGACGCCATGGTGCCGAGGTGGCCTCCACAACCGCCCTGTGCGCCAATAGGACAAGACTGTCCTCCCTCCCCCACACTTGTCACTTTGAGGGACACGTGGATGAGACAGGAAAACACAGGGGAGTGTGGAGACCTGAGGTGACTTGGAGCAAGCCTCTCAACCTGAGCGGCAATTTCTTCATCTGTAAAATGAGGGGGTTGTTCTCATCTCTGAGGCTTTGTGTCGCTCTCAAAGCCTGCTAGCCTCGGGTTCTAGGACTCTGTTGGGATCGTGTGTGATGTTTTCTGCTGAGCGACTGGCAGCCTGTGTCCTCGGGGGGAAAGAGGGCAGGCGCTCCAAAGCTCCTGCGCTCTGTGGCTCCCCCTCCCTCGCAGCCCCAAGCCCCAGGTGTGCCGGCCGCCCTGAGCCCCTCCAGCACCTCCCGGAGGCGCCTGCAAGACACCTAAGGTCCCCGCCTCCCTCCTCTCCCCCCCGCCACACCCCTACCCCCGGCAGGCGACGTCCCCGCCCCTCGACCATGGCCTGGTGAAGAAGCCGGCCAGGCCCGATCAGCCCCATCCCCGCCGCACGAGCGGCGCCTGCGGACAGCTCCTGGGGCCCCGGCCTTGTCACTCCGGAGGCGGGAGGCTCCGGGGGGTCGGGCTGGGAAGATCGAGCCGGAGGCCGCTAGGCTCCCAGGCCCCGGCCGAGGCTGCGCGGCCGCACGGTGGGCAGGCTCGGGTGTTCCGGCAAACTGCCGGGTCCCCATCTTCTAAAGAGAGGAGGCCCTTTCTCCAGCTTCCTCTGCGGGAGCCCGACCCAGCCCCATCCCGCCACCCCCGGGCTGCACCTCGGCCCCTCCCCGGCCCGCGCCCCTGCCCGGGGCGGGCCAGGAACCTCGGCCCGCGCCGCTGGGGACTCTGGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACCCGCAGGGCGGCCGCGGCGCAGGAGAAGGGGCAGAGCCGAGCACCGCGCACCGCGTCATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCTGCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTGCTGTTCCAGAGCGTGGCCGCCAGCTGGGCGCACGACACCAACATCACCGCGGAGAATGCAAGGCGCCAGGTGGGCGCCCGGGCCCGGGCGGGGGCGGGGCGGGGCCGCGGCGGCCAATCACAGCACGCGGCCGGCTTGTGGGGCGGGCAGGCTGGCGCCCCCGACCCGAACCCCACCCCGACCCCGGACCCTCGCCCCGACAGTCAGCCGCGGGGCCCGAGCGCCGGGCTGCGCGCACGGCCTGCGCTCCCAGCATGCACGAGTTGGATGGATGAGGGTGGCTGCTCCCAGGCCGCGCCCGCCTTCGCCGAAGGTGCTGGGCTTGGCTCTGGGGCCCCCGCGCTCTCGGGCAGCTGCCTTCTCACCTCCGGACGCTGTCGCTGTCACCGTCACCGCACTGCACTGTCCATCCACCCTCCACTCGCCCGGCCTCTTTTCTGGTCCCAATTTCTGCTCCACCATTCCCATGAGGCAGATTCCCTCCAGAAGGAGGAAGCGCGGCTTCCGCAAACTAAGGTCTCCCGCAGGGATCTCCCCAGGGCCCGGGCTCTGGAAGCCCTTGGCCTTCCTCCCCTCCCCCAGCACCGTGGCTTCTCCTTTATGGCCTGCATCTAAGCAGGGTCCTACACCCTCCCTGCCCTCCTGGTGCCCAATAGGAGGAAGCAGCCCTGCTCAGCCAGGAGTTTGCGGAGGCCTGGGGCCAGAAGGCCAAGGAGCTGTATGAACCGATCTGGCAGAACTTCACGGACCCGCAGCTGCGCAGGATCATCGGAGCTGTGCGCACCCTGGGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAGGTGGGCTGAGGGCTGAGGCAGAGCTCGGGGGCGGCCTCCTAGTGCCCCATCGTGGGGGTCGGGGGAGAGCAGCCCATCAGGGAGGGAGGAACCCTGGGATCCACATGGGCCCTGACAGAAGGGAAAGCCCAGGTAAGCACAGAATGGCTTTCTGAGCATTGATTTTTCTTGGAGATGGGGTGGGGAGTTACTTTCTGTTAAAGGAAGCATTCTGGAGTAGGAAGCCAAATTCAAATACACTTCTCCCTAGGCTGGTTTATGAGCTTCTTTGGAAGAGTTGAGAAGGGCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTC
CCAGGGTCTATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAGAGCAGGGTGGCTCCTGGGAGGAGAGCCCAGGCCACCACCTTGCCCTCCCTGGCCCCTGGCCTTCGATGGGGCTGCTCTGATCACAAACGTCCACCAACGTAGCCGGCCCAGAAGTGCACCCATGTCCTCTGGTATCCACTGGCTCTCCAAGCCAAACTGGGCAGGGAGGAGTTGTGAGGGAAAACTGCAGGTCAGGAGGGAGGCTGGCAAAGCGGGCCAGGGCCAGGCCTGACCCCAGCTCTCCTCTCCCGGCCCCACTGCCGGCCAGTGTTTAACAAGGCCCTGCCTTCTCCCTCTAGTGCTAGGGACAGCCACCTTCTTCCTCTCCCCACCGCCCCCTCTCCCCTGCAACACGTCATCTGACAAGTCAGTGCGATCTCACTGGAGGTGCATCTCACAGGAACGCGGGGTCACAGCCTCCTGCACACACTCCATGCTGCACAGCAAGGTGCACGTGTCCCTCAGAGCCCCAGACACCATCCCCCACTCACCCAGAAGCCCAAGTGATTCCCAACAGCCCCCAGCAGCCTAATGGGTTGGGGTCTTGGGAGCAGCTGTCCCTGGCTCCTTCCCTGATCCCACCGCCCAGCCTCACCCCACGGTTCCTCCATTGCCCCACCTCCCACTGCGCCGCCGGGCCTCTGCCAGGGTCAAGGGGCTTCCCCCCTCTGGCAGCAGACGCCATGGTGCCGAGGTGGCCTCCACAACCGCCCTGTGCGCCAATAGGACAAGACTGTCCTCCCTCCCCCACACTTGTCACTTTGAGGGACACGTGGATGAGACAGGAAAACACAGGGGAGTGTGGAGACCTGAGGTGACTTGGAGCAAGCCTCTCAACCTGAGCGGCAATTTCTTCATCTGTAAAATGAGGGGGTTGTTCTCATCTCTGAGGCTTTGTGTCGCTCTCAAAGCCTGCTAGCCTCGGGTTCTAGGACTCTGTTGGGATCGTGTGTGATGTTTTCTGCTGAGCGACTGGCAGCCTGTGTCCTCGGGGGGAAAGAGGGCAGGCGCTCCAAAGCTCCTGCGCTCTGTGGCTCCCCCTCCCTCGCAGCCCCAAGCCCCAGGTGTGCCGGCCGCCCTGAGCCCCTCCAGCACCTCCCGGAGGCGCCTGCAAGACACCTAAGGTCCCCGCCTCCCTCCTCTCCCCCCCGCCACACCCCTACCCCCGGCAGGCGACGTCCCCGCCCCTCGACCATGGCCTGGTGAAGAAGCCGGCCAGGCCCGATCAGCCCCATCCCCGCCGCACGAGCGGCGCCTGCGGACAGCTCCTGGGGCCCCGGCCTTGTCACTCCGGAGGCGGGAGGCTCCGGGGGGTCGGGCTGGGAAGATCGAGCCGGAGGCCGCTAGGCTCCCAGGCCCCGGCCGAGGCTGCGCGGCCGCACGGTGGGCAGGCTCGGGTGTTCCGGCAAACTGCCGGGTCCCCATCTTCTAAAGAGAGGAGGCCCTTTCTCCAGCTTCCTCTGCGGGAGCCCGACCCAGCCCCATCCCGCCACCCCCGGGCTGCACCTCGGCCCCTCCCCGGCCCGCGCCCCTGCCCGGGGCGGGCCAGGAACCTCGGCCCGCGCCGCTGGGGACTCTGGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACCCGCAGGGCGGCCGCGGCGCAGGAGAAGGGGCAGAGCCGAGCACCGCGCACCGCGTCACGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCTGCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTGCTGTTCCAGAGCGTGGCCGCCAGCTGGGCGCACGACACCAACATCACCGCGGAGAATGCAAGGCGCCAGGTGGGCGCCCGGGCCCGGGCGGGGGCGGGGCGGGGCCGCGGCGGCCAATCACAGCACGCGGCCGGCTTGTGGGGCGGGCAGGCTGGCGCCCCCGACCCGAACCCCACCCCGACCCCGGACCCTCGCCCCGACAGTCAGCCGCGGGGCCCGAGCGCCGGGCTGCGCGCACGGCCTGCGCTCCCAGCATGCACGAGTTGGATGGATGAGGGTGGCTGCTCCCAGGCCGCGCCCGCCTTCGCCGAAGGTGCTGGGCTTGGCTCTGGGGCCCCCGCGCTCTCGGGCAGCTGCCTTCTCACCTCCGGACGCTGTCGCTGTCACCGTCACCGCACTGCACTGTCCATCCACCCTCCACTCGCCCGGCCTCTTTTCTGGTCCCAATTTCTGCTCCACCATTCCCATGAGGCAGATTCCCTCCAGAAGGAGGAAGCGCGGCTTCCGCAAACTAAGGTCTCCCGCAGGGATCTCCCCAGGGCCCGGGCTCTGGAAGCCCTTGGCCTTCCTCCCCTCCCCCAGCACCGTGGCTTCTCCTTTATGGCCTGCATCTAAGCAGGGTCCTACACCCTCCCTGCCCTCCTGGTGCCCAATAGGAGGAAGCAGCCCTGCTCAGCCAGGAGTTTGCGGAGGCCTGGGGCCAGAAGGCCAAGGAGCTGTATGAACCGATCTGGCAGAACTTCACGGACCCGCAGCTGCGCAGGATCATCGGAGCTGTGCGCACCCTGGGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAGGTGGGCTGAGGGCTGAGGCAGAGCTCGGGGGCGGCCTCCTAGTGCCCCATCGTGGGGGTCGGGGGAGAGCAGCCCATCAGGGAGGGAGGAACCCTGGGATCCACATGGGCCCTGACAGAAGGGAAAGCCCAGGTAAGCACAGAATGGCTTTCTGAGCATTGATTTTTCTTGGAGATGGGGTGGGGAGTTACTTTCTGTTAAAGGAAGCATTCTGGAGTAGGAAGCCAAATTCAAATACACTTCTCCCTAGGCTGGTTTATGAGCTTCTTTGGAAGAGTTGAGAAGGGCTGGGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTC
Task1_train_25249
A mutation found in ACE (angiotensin I converting enzyme) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Renal tubular dysgenesis of genetic origin
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCTGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
Task1_train_25250
The following genetic variant occurs in ACE (angiotensin I converting enzyme) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Microvascular complications of diabetes, susceptibility to, 3
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCTGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
Task1_train_25251
A variant affecting Chromosome 17, within the gene ACE (angiotensin I converting enzyme), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hemorrhage, intracerebral, susceptibility to
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
GAGGCTGAGGTGGGCGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACAAAAAAAAAATAGCTGGGCTTGGTGGTGCGTGCACCTACAGTCCCAGCTACTCTTGAAACTGAGGGGGAAGGATCACCTGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGTGATTGCACTACTGCACCCCAGCCTGCGTGACAGAGTGAGACCTCCCCCCAAAAAAAAGAGAGAGAGAAAAGGTTGAGAAAGACTGGGAAGTCACCAAAGCCAGAGAATGGGAGGGATCTGCCCTCACTGCAGGGTGGTGCCAAGCTGGGACTTGACCCTGACCCTGACTTTCAGGACTCCTGTCCCCCACTCCACAGGCTGCCTCCACTGGCAGGGGACTCAGAAGTGATCCGGTCACACTAAGTGACACTTAGTGATCAGAAGTGCCCCGGTGCCACTGAGTGGCCTTGTCCAAGCTACATCCACTCTGTGGGCTCCTCCTTCTAGCAGCGAGGGGAGGGCAGATGTCCCAGGGGCTGGTCACTGGAGCATTCCTCCCCTCTGACTCCCCAGTACAACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCTGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGA
Task1_train_25252
Mutation context: Chromosome 17, Gene ACE (angiotensin I converting enzyme). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAGTACAAGGATCTGCCCGTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATTGGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGCTGGACCGTGTCACCAATGACACGGGTATGGGAGGGCTGAGAGGCCCCCACCCAGCCTCACCTAAACCCCGCTCCACCCCACAGCAGGACCTCACTTGCCCCACTCAGCTCTGCCCTTCTTTCTGCCTCCCGGCCCCAGGTCAGGCAGGGTTCGGGATCCTCCTAGAGCCTCACGGTGCACACTGCGCCCAGCTCAGCACACCTGGGGGTCCTCTTCCAAGCAGGGCCCAGGGTCTCGAGGGCCAGCCATACCTTCTCTGCATCTCCCTGGCCTCACTTTCTGCTGCCCCGCCAGCCCACACTCTTAGGGGACCCTCTTCTCCCTCTGACCTCTTCCCTCTCCTTTCATCTCATCTCCCAACAGAAAGTGACATCAATTACTTGCTAAAAATGGCACTGGAAAAAATTGCCTTCCTGCCCTTTGGCTACTTGGTGGACCAGTGGCGCTGGGGGGTCTTTAGTGGGCGTACCCCCCCTTCCCGCTACAACTTCGACT
CCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGGTACGGCCCTTGCAGCTCCCCTCTCGGCGGTGCCCTAGTGTTCCCACATTGCCCTGCTGCACTCCAGACCATGCAGTTGTGTAGGGTCTGTGGAGACAGCAGGTAAACCCAAAGGTGTTGCCCTCCAACTGGGGCTGGACGGTGCAGATACCCCCACGCCCTGCTTCTCTTGGCAAGTGGACTTCCGGAATCTCCAGCTGCAGCCCCCACTTCTGTGTGTACCTCGGCCTCTCCCATCACCCCTAGGCCTTCCTCCTGGCTGCCTGGTTTCCCCTTTCGTGGGTCCTCTCATGTTCCCCAAGAGCCCTCAGGCCAGGGACCCCTCGTGGCTTCCCCTTAAACCCCGCTCCAGCCCCCTTTATGAGCAGCTTCGAGGAAGGCACTCCATCCAATAGGCCGCTAAGTGTCTGTCTGGGTTTTGGCCTTTGGGTGTCCCCTTGGTGTCAGCCACCTTAGGTGGTCATGTCTCTGGGGCAGGGGCCCTGCCTGGGTGTTTCTGTAGCTCCCAGCCCCCTCCCACCAGGCCTGTAGGTGGCCCCTGTCTCTGGGGGCACCGTGATGTTCAGGAAGCTGGTGGGAGCAGTAAGGACTGGTGCAGGCTCTGGTGAAGGCCGTTGAAGACTTCAACGTGGAGGCCTCCTCACCGACCCTGCCTGCCTGTGTCTCAGATCTCACCAACATCCTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGTGAGCAGGCCTCTCCCTGTCCAGGAACCACGCCAGGTGTCCTCTCTCAGCTGTCTCCCCAGAGTCCCAGCCCAGAGTCAGGCAGAGCAGCTGGTATGACAATTCCAGCAGGCCCTGAGTTTCCCAGAAAGTGGAGGTGGGACCGGCCTGCACCCAGTGTGCCTGGACTTTGCTGCTGGCCTGCCCCACGTGGCCATCCTGCTGTCACTCCTGGCCCTGATGCTCCTCTTTGCCTCTGGGAACCTCCAGGATCTGTTTAGCTGGCTGTAGCTAATTAGAAATTGTAGAGTGGCAACCCCCAAGCCAATTTTCCAGCTAGCTGCAGATCCACGGGCCTCGAGCCAGTGGAAGAGCCGACTTACAGCTGAGAGGCTGAGGTCCGAGCCTTTGGCCTGAGCTACATACCTCACCCCCACGCCCCCAGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCATCTGCTGGGTAAGGACCTGGCCTCGCCTCCACATGAGTCCCACGGAAGTGTGGGTCCCGAGGTAGGGGTGGGGGATGTCCAGGGTAAGGGAAGGTGGGTTGTGACCCTCACATCTCACATGTGTGGGGCATCATACTGTTTGCTTCACATGCAGGAGACCATTCGTGTTCCCACTTTACAGGTGGGGACCCTGAGGCTTAGGGTCGTGAGGGACTTAGTGGTCAGAGAGCTAGGGGCCAAACCAAAGGCTCTGGCCCTGGGTCCAGTGGGGGAGCCATCAGCCTAGCTCATGCCCAAGGAAACAAGCACTGTGGCCCTGCCTCAGGATTGAGTGGCTGGGGCCTGGCACAGCCAGAAATGACAGTGGCAGCATCTTGCAGCCCCAGGACATGTGGCCCTCGGAGGAGTGTGGGTGGGACTGATGTGTGAGATTTCTGGCCCTAAGCCAGGCCTGCAGCCCTTGAGGGCCCCAGGGTACAGGTGCCGGCCCCAGGGTGCCACTCAGCGATGCATGAAGAAGCAGGCACAGCCAGGCAGGGAGCCAAGCTGTCCCCTTCCTTCCTTATCTAGGAGACATGTGGGCCCAGAGCTGAGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCCTGCCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGAAGAGCACGTTCTGGGGTTCCCCGGTTCTGGGGCCCGGGGAAAGGCAGGCAGCCCAGGCGCAGGGAAGCTGGTTCCCAGGCCTGCCTCTACCCTACCCCAGCACTGGTTGGAGGCTGGGTCTGTTCCAGGGCTAGGGGGTATAGGAGGCCTATTAGTCCACCTTCTCTGGCAGCTTTGACAAATAGTCACTTCTATACCTTGGAATGGAGGAAGAAGGCCCAAGTGGTGGTGAGCCAGGGCAGGGTAAAGAATTTGCTTGTTTCTGCCAGGCACGGTGGTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATAAATTAGCCAGGGGTGATGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACAGGCCAGCCTGTGCAAAAGAGTGAGACGCTGTCTCAAAAAAAAAAAAGAAAAAAAGAAGTTACTTGTTTCTACTGCGGCTTCATGCCCCAGGGCAGCTCCCTCCTCATTCCTGTCTTTCAGGTGCCAATCTGCCCTGTGCCCTGGCCCTGCCCTGTTCTGTCCATCCGTCACTCTCACCCTCGCCCTCTCTACGCCCCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAGTACAAGGATCTGCCCGTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATTGGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGCTGGACCGTGTCACCAATGACACGGGTATGGGAGGGCTGAGAGGCCCCCACCCAGCCTCACCTAAACCCCGCTCCACCCCACAGCAGGACCTCACTTGCCCCACTCAGCTCTGCCCTTCTTTCTGCCTCCCGGCCCCAGGTCAGGCAGGGTTCGGGATCCTCCTAGAGCCTCACGGTGCACACTGCGCCCAGCTCAGCACACCTGGGGGTCCTCTTCCAAGCAGGGCCCAGGGTCTCGAGGGCCAGCCATACCTTCTCTGCATCTCCCTGGCCTCACTTTCTGCTGCCCCGCCAGCCCACACTCTTAGGGGACCCTCTTCTCCCTCTGACCTCTTCCCTCTCCTTTCATCTCATCTCCCAACAGAAAGTGACATCAATTACTTGCTAAAAATGGCACTGGAAAAAATTGCCTTCCTGCCCTTTGGCTACTTGGTGGACCAGTGGCGCTGGGGGGTCTTTAGTGGGCGTACCCCCCCTTCCCGCTACAACTTCGACT
Task1_train_25253
Given a variant located on Chromosome 17 and affecting ACE (angiotensin I converting enzyme), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Renal tubular dysgenesis of genetic origin
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCTGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
Task1_train_25254
Given this variant in gene ACE (angiotensin I converting enzyme) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hemorrhage, intracerebral, susceptibility to
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCTGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
Task1_train_25255
This mutation occurs in ACE (angiotensin I converting enzyme) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Microvascular complications of diabetes, susceptibility to, 3
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
TGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAACTTCTTAGCATTCTGTCTCATACACAGCCTCCTCAGGGAGGGGTGGCCAGGACCCCACTATTCATCACTCTCTAGTGGAATGTAGCTGCACACTAGGTCTGCAGGTCACATGGCCACAGATGAGTGTGCCCAATGCAGCCCCTCTCCTTCTGTGTGCCCCGGGAGAGCACTTGCTGAGGGCTAGCAAGGCTGTTTGTGATCCGGGAGGCTCCCTGGGAGGCTGGGGGCTAGAGAGACCTCAGGCTGGAGTTCCAGGTGCCCCCGGGCTACAGGTAGCCCAGGCCACCCCCAGAGGGCTGTGGCTGCCTCTGGCCCTGGCCTCCCGTGGTTCCTGGAAGCCCAGCAAGGGCAGGGCCCATGCCCACCTTGCCTCCTGGCACCTGGGATGATGCCAGCACATCATCAAGTGCTAATAACTGATTGTGGGATGGATGAAGTCTGTCCCCAGAGTCCAGGAAGAGGGCATCCCTGGAGCACCTCAGATAGGCCTGACCTAGACGGTGCTCCAGAGATGACACTTAGGACAGGGCTCCCGCCTGCCTGCTGGAGTGGTCCCTGGGGTTCCCAGCCGGCGCTGGCTCTCACCCGGGAGCCAGCTGGTGTGATGGCTAGCTTCCCAGCTTAATGCAGACAATTCTCCAAACAGGGGTGGGCAAAGGAGACTTGGCTGCTCTAGAAAAACATTCCGGATTCTGGCCAGCAGCCTTCACAAAGCACTTTTAGGAAAGACCAGGGAACTAGGTGGTACATGCTTGCACCCAGCATTCAAAGTGAGAGGCCTGTGCCACTGGCTCAGGACATTTAAAACCTCTTCAGACTTTAAGCTGGGGAGAATCCTCCAGCCTTGACTGGCAGATTTCTACCAGGGAATTCGTGATGCTTTGGATAAGATCATGTAGGACTGGCTTCCCTGCCCAGACCACCCTAGTAGATCCACACGGCCCATTTGGCCACACCTTGCCTCTACTTGCATATACCCCAGGGATGGAGACCTCACTGCCTCCAAAGCCACCTGCCAGATCTCTGAAGGCTCTGCCCTGACCCCATGGAGCAGGCCCTCCTGAGTTGTGGAGGCAGCTCTGTGGGTGGGAGGCATCTACACAGGCACGGCTAGGAAGAGGCTCAGACAATGCTAAGAGCTGGGGTGGGGGAGCTCACCCTGATAGCTGTGGGCAGAGTTGGGGGGCCTTGGCTCTGCTGTGCGCATGTGACTTAGCACACATCACATGTGATGTGCAGAAGGGCCTGGGGCCCAGTGGCACAAGGCCCTCAACCAACTCCGCCCCGGGCCACGGCCTCGCTCTGCTCCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGCCGGGCAGCGCCTGGCGTGAGTGTCCTCCAGCCCTCCTTTGTTTCCATGCTCTGGCCTGCGCCCCTGGGCCTTGAGGGGTCTGTCCACTGGAGCTTTTGTGGGAACACTTGCCATTTTGAGCCGGGAACTCCCACCTGCAGCGTGGGCCAGGCCTGATTGCCATCTCCTTAGGCACCTGGAGCCCTGGGGCCCTGGGACAAGTTTCAGCTGGGAGTGGGTATGGAGAGTGGATGTCAGGTGGGGGCAAGAGGGGCCATGTCCTTCTGACTCTGCCTCCCTGTCTCATGCCTCCCCAGGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCTGAACTCCGGTACCGCCACCCACCCCACCTCCAGCCTTGGGTCTTAACCCCCTCCCCAGGCTGGGCAGCCATGCGGCTGACCTCGGAGCCTGGCCCTGCCCCGCACCCTTGCCCTGCCCTGCCCTGCCCTGCCCATGCTGTCTCCTTGCTTCCCGCTCAGCTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAAGAGATAAGCCCTGTTGACGTTTTGGTGTACAACTTGCCGGACTTCTTCTCAGCACATGTGTATTTTAAATGGGATCACACCATATTTACAGTCATACATCCTTTTATCACTTCATACAACTAGATCTGTTTTTCTGATATTTAAATGCCAGACTTCGAACTTGGCCAATAGAAGTTGGTCCATTTGCTGGGGCCAGGGGCTCCCCAGCCACCCGGGCCCCTCTGTCAAACCCTCAGCCCTGAGTCTCTTCTGGGCTTTGCTGATGTCTTCACCCTAGCTAGGTCCATCTCCCAATATCTGTCCCCCTTAGTCCACAGCTTTTGCCCCCCAATCCAGGTGCCGTGCGTGTCTCTGTGTGTCCGTGTCTGTGTGTGTGTTGTACACAGGCTTGGCTGTTACAGGCCCATTCTGTAAGGCAGGATGTGGGGCTGAGGTATTTTAGGATTGAAAGAGGGTGGAAGTTTATGATTACATAGGACAATGGAATTTATAAACATGTCCTCTAAATGGTTCCGAGTCATCTACCAATGAAGACTTCTTGAATTATCCCCCCTTTTCCCAGCCTGTTTTGAAAGCTCTTTGTTTACCAGACAAAGGTCATCATCATATGACCCCCTTTGCCTTTTTTTTTTTTTTAAGATGGAGTCTCGC
Task1_train_25256
Chromosome 17 houses a mutation in gene MAP3K3 (mitogen-activated protein kinase kinase kinase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Verrucous hemangioma
GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGTACGTTCCGCCTCGTAGCCTGGGGTGTGACTTGCTCTCCTCTGGCCCTTGCACCCTTTCAGGCAGAAGAACATTTCCCCGAATACGGCGTCATCAAGGCAACTTGTTCACCCTGGTGCCCTCCAGCCGCTCCCTGAGCACAAATGGCGAGAACATGGGTCTGGCTGTGCAATACCTGGACCCCCGTGGGCGCCTGCGGAGTGCGGACAGCGAGAATGCCCTCTCTGTGCAGGAGAGGAATGTGCCAACCAAGTGTGAGGAGCTGTCCCTGGCTAGGAGGAGACTGCCCAGGTGGTCTCAGACAAGCTACGGGGGCAAACAGCTGGGCCCCTGGGACCCTTAGGCTCAGCAGGTGGTGGCTTTGGCCCAAATGCACCACATGGGATAAGCCTTGGAGTGTCTGAAGCCTGGCTCCACTATTGTGTGACAAGCCTCTTCTCCTCTCTGATCTTTAGTTTTTCCATGTTTAAACTAGGGAAGAGCACACCCTTCATCCCTGCCATATTAAGATATTTAGGGGCTTTGGAAGGAAATGCATTTGATCAATGCAGAAGAGCATTTAACCATGACTTCAGCCAATCCTCTGCTTCTTAGGACTCTGACTTCAGGTCCGAGTGACTAGGGCACTGGGCTTGCTCCAGATTGTGGTGGAGATGCTCTACTAAGAGATGATGGGTGCTGGGTGAGGGGGAGCCTGAGCCAGAGACCCTGTTCCTGGAGAATGAATGGGATATTCATAAATAATGTACACAAAGTAACTCTTTCCTTCTGCTCTCCTGTAGCTCCCAGTGCCCCCATCAACTGGCGCCGGGGAAAGCTCCTGGGCCAGGGTGCCTTCGGCAGGGTCTATTTGTGCTATGACGTGGACACGGGACGTGAACTTGCTTCCAAGCAGGTCCAATTTGATCCAGACAGTCCTGAGACAAGCAAGGTACACTTAACCCGTGGTCTGACTTCAGTTCCCTCCTTTCAACAAAAATGCCTGTCTTACCACACAGAGTAGTTGCCTGAGATGCTGTAGGTTGCTTCCTCTGTCATTCTTCCCAAACTCCCTTTCTGTCCATCCTGGTCCCAGCCACAGGGTGAAAGGACTGTGGTCTGAAGAGCACCAAGCACCTGGAGGGGAGGGATTGGGTGTAAGGAACTAAGCTGATGCCAAAGTACCAAGTAACCCAAACTGAGAGGTGATGACCTGTGACACAGAGGGGACTCCCTCCCCTAGACAAGTATCTCTCCCCAGCTCTCAGCCCAGGAAGGAGCTGTGGGGCTCCTTCACTTGGTCCAGCTCTAGAGGAGGAATCATATGGCCTGTCTTTGCAGTTCAGCTTTCAACGTCGCTTATACTTCAAGTTCTGTGGACAAACAGCAGTTACCTTAACTAAGCACCCACGGCCCCTTCTCCCACCTCCCTGCCTCCTTCCACCCATGGGAGTGCCACCATCCCAAGGCCTGCCCAGCATTGTGGCCAAGAGCTAGACAGTTAAGAGAGTCCCCCTTTTCTCCAACTGCAGTTCCCAAGGCAGATCCCTGTGAGGCCACTAACTAGGGCAAGCTGAGCTGAACCCAGGCGGGCAGAACTAGGGCCCTGAGAGCTGAGGCGACCACTGACCCCTCCCCTAGGAGGTGAGTGCTCTGGAGTGCGAGATCCAGTTGCTAAAGAACTTGCAGCATGAGCGCATCGTGCAGTACTATGGCTGTCTGCGGGACCGCGCTGAGAAGACCCTGACCATCTTCATGGAGTACATGCCAGGGGTACGTGCCCCTTGAATGCATGTGAGACACACACAAAAGAGGGCCTGACCTGGGGGCTGGGGCCTGCAGGAGGGGGGTCACCTTGGATAGGAGTTTGAACACCTGAGGCTCCAGAGGCCCAGAGGAGCAAAGTGAGGTGATGGTGGGACTTGGAGTCAGGAGGGCCCTGCCTCAGGTTGCAGTGGGAGTATGAGATGACAGCTGTCCTAGGTCCAGCACTCCCCTGAGGCATGCAGGGCTGGCCCACTGTCCAGTAAATGCAGCCTTCATCTGGAGCAGAGAGGCCTCCCTGCTCCTGGATTTGGGTGGCGCTCTGCTTGAGAAGGACTTGGGGTACTCTCTTTTCCAAACTGCCTGACAGCTCCTGGCAAAATGCCCTGCCCAGCCAGATAGGAATTGAACAAATCACTCCTTTGCTGCCATGCTGGGGGCTGGAATGGGCTTGCCCCTCCACCAGCCCTCCCCTGAGGGGACTCCTCTGACTTCTTGTGGCCTCCAGGGCTCGGTGAAAGACCAGTTGAAGGCTTACGGTGCTCTGACAGAGAGCGTGACCCGAAAGTACACGCGGCAGATCCTGGAGGGCATGTCCTACCTGCACAGCAACATGATTGTTCACCGGGACATTAAGGGTGAGCAGGGCCAGGATACATGGAGTCCCCAGGACCTGGGTTCAAGTCTACCATTGAGTGCCTGCAGGGGCCAATCACTTAACCATTCTGAACTTTCTGAAAAGTGGGACCCCAGTTGTTTCCCTGAGGAACTGGTGAGATTGGTTGAGCAATATGAGAGAATATTGCCAAGTTCCCTCTACATGTGGGCCTTGGAGATGGTCATTTTGTGCGGTAGATCTGAGACTCCCCTTTGCTAAATCCTTTGCCCTTTGCAGTTCATGTCTAATTCAGTGGTAGCCCTGCCCTCTCCAGCAGCTCTCAGTGACCCGGGGGTGGGGAGGATGGGAGAAAATGCAAGAGGGTCCAGGGTTGCAGCCTCTGCCCTTTCATGCCTCAGGAGCCAACATCCTCCGAGACTCTGCTGGGAATGTAAAGCTGGGGGACTTTGGGGCCAGCAAACGCCTGCAGACGATCTGTATGTCGGGGACGGGCATGCGCTCCGTCACTGGCACACCCTACTGGATGAGCCCTGAGGTGATCAGCGGCGAGGGCTATGGAAGGAAAGCAGACGTGTGGTGAGCACTGGGACATGCAGAACCCATTCTTCCACCCAGGCCATAGTGGCCCCCCATTAGAAACACACCCTGGGGACTTTGTGGTGTGGCAGGAGGGAGTGTGCCCAGGGCCCAGGCTGCAGTGTGTGCAAGGGTATTATTGGGTGCAGTAGCACACACACCACATGGGTGGTGCTCAAAGCACACTCCATTAGAGCTGGGAACTTAGGCCATGGAAAACATCCCTCATGTTTGCTAAATCTCTTAAGGAAGCAGGATCCACTCTGAAGGCCTGAAGGCCTGGACCAGTCTCTCAACAGGAGCAGGCTTCTGTCCCTTCTCCTAGCACTCAAGACAGTTTGCACTTGCTCGACATAACCTTGTGTCTATCCTCTGAAATGGCCCCTAAGTCAGGAGAGCTTCTCCCCTTGGAAAGCTATTGTGGTGGGCTGAATAATGGCCCCCCCAAAGATGTCCACTGCCTAATCCCTGGATCTGTAAATGTGATTGTATATAGCAAAGGGCCTTTGCAGATAGGATTAGGTTAAGGGTTTTGAGATGGATGGATTATCCTGGATTAAGGGTCCTTACAGAAGGGTCTCAAGAGGTCAGAGTGGCTAATAGGAGGTGAGACAATGAAAGCAAGAGGTTGGAGTAATACAAGGAGGGGACCATGAGCCACGAAATGCAGGTGGCCTCTAGAACCCAGGAAAGGCAAGGAAACAGGTTCTCCCCTCAGAGCCTCTGACAGGAACCAGCCCTGCCGCCACCTTGACTTTAGCCCTGTGAGACTGATTTTAGACCTCTGACCTTCAGAACTGTAAGATGATACATTTGTGTTGTTTTCCTGCCTCTAAGTTT
GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGTACGTTCCGCCTCGTAGCCTGGGGTGTGACTTGCTCTCCTCTGGCCCTTGCACCCTTTCAGGCAGAAGAACATTTCCCCGAATACGGCGTCATCAAGGCAACTTGTTCACCCTGGTGCCCTCCAGCCGCTCCCTGAGCACAAATGGCGAGAACATGGGTCTGGCTGTGCAATACCTGGACCCCCGTGGGCGCCTGCGGAGTGCGGACAGCGAGAATGCCCTCTCTGTGCAGGAGAGGAATGTGCCAACCAAGTGTGAGGAGCTGTCCCTGGCTAGGAGGAGACTGCCCAGGTGGTCTCAGACAAGCTACGGGGGCAAACAGCTGGGCCCCTGGGACCCTTAGGCTCAGCAGGTGGTGGCTTTGGCCCAAATGCACCACATGGGATAAGCCTTGGAGTGTCTGAAGCCTGGCTCCACTATTGTGTGACAAGCCTCTTCTCCTCTCTGATCTTTAGTTTTTCCATGTTTAAACTAGGGAAGAGCACACCCTTCATCCCTGCCATATTAAGATATTTAGGGGCTTTGGAAGGAAATGCATTTGATCAATGCAGAAGAGCATTTAACCATGACTTCAGCCAATCCTCTGCTTCTTAGGACTCTGACTTCAGGTCCGAGTGACTAGGGCACTGGGCTTGCTCCAGATTGTGGTGGAGATGCTCTACTAAGAGATGATGGGTGCTGGGTGAGGGGGAGCCTGAGCCAGAGACCCTGTTCCTGGAGAATGAATGGGATATTCATAAATAATGTACACAAAGTAACTCTTTCCTTCTGCTCTCCTGTAGCTCCCAGTGCCCCCATCAACTGGCGCCGGGGAAAGCTCCTGGGCCAGGGTGCCTTCGGCAGGGTCTATTTGTGCTATGACGTGGACACGGGACGTGAACTTGCTTCCAAGCAGGTCCAATTTGATCCAGACAGTCCTGAGACAAGCAAGGTACACTTAACCCGTGGTCTGACTTCAGTTCCCTCCTTTCAACAAAAATGCCTGTCTTACCACACAGAGTAGTTGCCTGAGATGCTGTAGGTTGCTTCCTCTGTCATTCTTCCCAAACTCCCTTTCTGTCCATCCTGGTCCCAGCCACAGGGTGAAAGGACTGTGGTCTGAAGAGCACCAAGCACCTGGAGGGGAGGGATTGGGTGTAAGGAACTAAGCTGATGCCAAAGTACCAAGTAACCCAAACTGAGAGGTGATGACCTGTGACACAGAGGGGACTCCCTCCCCTAGACAAGTATCTCTCCCCAGCTCTCAGCCCAGGAAGGAGCTGTGGGGCTCCTTCACTTGGTCCAGCTCTAGAGGAGGAATCATATGGCCTGTCTTTGCAGTTCAGCTTTCAACGTCGCTTATACTTCAAGTTCTGTGGACAAACAGCAGTTACCTTAACTAAGCACCCACGGCCCCTTCTCCCACCTCCCTGCCTCCTTCCACCCATGGGAGTGCCACCATCCCAAGGCCTGCCCAGCATTGTGGCCAAGAGCTAGACAGTTAAGAGAGTCCCCCTTTTCTCCAACTGCAGTTCCCAAGGCAGATCCCTGTGAGGCCACTAACTAGGGCAAGCTGAGCTGAACCCAGGCGGGCAGAACTAGGGCCCTGAGAGCTGAGGCGACCACTGACCCCTCCCCTAGGAGGTGAGTGCTCTGGAGTGCGAGATCCAGTTGCTAAAGAACTTGCAGCATGAGCGCATCGTGCAGTACTATGGCTGTCTGCGGGACCGCGCTGAGAAGACCCTGACCATGTTCATGGAGTACATGCCAGGGGTACGTGCCCCTTGAATGCATGTGAGACACACACAAAAGAGGGCCTGACCTGGGGGCTGGGGCCTGCAGGAGGGGGGTCACCTTGGATAGGAGTTTGAACACCTGAGGCTCCAGAGGCCCAGAGGAGCAAAGTGAGGTGATGGTGGGACTTGGAGTCAGGAGGGCCCTGCCTCAGGTTGCAGTGGGAGTATGAGATGACAGCTGTCCTAGGTCCAGCACTCCCCTGAGGCATGCAGGGCTGGCCCACTGTCCAGTAAATGCAGCCTTCATCTGGAGCAGAGAGGCCTCCCTGCTCCTGGATTTGGGTGGCGCTCTGCTTGAGAAGGACTTGGGGTACTCTCTTTTCCAAACTGCCTGACAGCTCCTGGCAAAATGCCCTGCCCAGCCAGATAGGAATTGAACAAATCACTCCTTTGCTGCCATGCTGGGGGCTGGAATGGGCTTGCCCCTCCACCAGCCCTCCCCTGAGGGGACTCCTCTGACTTCTTGTGGCCTCCAGGGCTCGGTGAAAGACCAGTTGAAGGCTTACGGTGCTCTGACAGAGAGCGTGACCCGAAAGTACACGCGGCAGATCCTGGAGGGCATGTCCTACCTGCACAGCAACATGATTGTTCACCGGGACATTAAGGGTGAGCAGGGCCAGGATACATGGAGTCCCCAGGACCTGGGTTCAAGTCTACCATTGAGTGCCTGCAGGGGCCAATCACTTAACCATTCTGAACTTTCTGAAAAGTGGGACCCCAGTTGTTTCCCTGAGGAACTGGTGAGATTGGTTGAGCAATATGAGAGAATATTGCCAAGTTCCCTCTACATGTGGGCCTTGGAGATGGTCATTTTGTGCGGTAGATCTGAGACTCCCCTTTGCTAAATCCTTTGCCCTTTGCAGTTCATGTCTAATTCAGTGGTAGCCCTGCCCTCTCCAGCAGCTCTCAGTGACCCGGGGGTGGGGAGGATGGGAGAAAATGCAAGAGGGTCCAGGGTTGCAGCCTCTGCCCTTTCATGCCTCAGGAGCCAACATCCTCCGAGACTCTGCTGGGAATGTAAAGCTGGGGGACTTTGGGGCCAGCAAACGCCTGCAGACGATCTGTATGTCGGGGACGGGCATGCGCTCCGTCACTGGCACACCCTACTGGATGAGCCCTGAGGTGATCAGCGGCGAGGGCTATGGAAGGAAAGCAGACGTGTGGTGAGCACTGGGACATGCAGAACCCATTCTTCCACCCAGGCCATAGTGGCCCCCCATTAGAAACACACCCTGGGGACTTTGTGGTGTGGCAGGAGGGAGTGTGCCCAGGGCCCAGGCTGCAGTGTGTGCAAGGGTATTATTGGGTGCAGTAGCACACACACCACATGGGTGGTGCTCAAAGCACACTCCATTAGAGCTGGGAACTTAGGCCATGGAAAACATCCCTCATGTTTGCTAAATCTCTTAAGGAAGCAGGATCCACTCTGAAGGCCTGAAGGCCTGGACCAGTCTCTCAACAGGAGCAGGCTTCTGTCCCTTCTCCTAGCACTCAAGACAGTTTGCACTTGCTCGACATAACCTTGTGTCTATCCTCTGAAATGGCCCCTAAGTCAGGAGAGCTTCTCCCCTTGGAAAGCTATTGTGGTGGGCTGAATAATGGCCCCCCCAAAGATGTCCACTGCCTAATCCCTGGATCTGTAAATGTGATTGTATATAGCAAAGGGCCTTTGCAGATAGGATTAGGTTAAGGGTTTTGAGATGGATGGATTATCCTGGATTAAGGGTCCTTACAGAAGGGTCTCAAGAGGTCAGAGTGGCTAATAGGAGGTGAGACAATGAAAGCAAGAGGTTGGAGTAATACAAGGAGGGGACCATGAGCCACGAAATGCAGGTGGCCTCTAGAACCCAGGAAAGGCAAGGAAACAGGTTCTCCCCTCAGAGCCTCTGACAGGAACCAGCCCTGCCGCCACCTTGACTTTAGCCCTGTGAGACTGATTTTAGACCTCTGACCTTCAGAACTGTAAGATGATACATTTGTGTTGTTTTCCTGCCTCTAAGTTT
Task1_train_25257
Here is a genetic alteration in MAP3K3 (mitogen-activated protein kinase kinase kinase 3) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Verrucous venous malformation
GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGTACGTTCCGCCTCGTAGCCTGGGGTGTGACTTGCTCTCCTCTGGCCCTTGCACCCTTTCAGGCAGAAGAACATTTCCCCGAATACGGCGTCATCAAGGCAACTTGTTCACCCTGGTGCCCTCCAGCCGCTCCCTGAGCACAAATGGCGAGAACATGGGTCTGGCTGTGCAATACCTGGACCCCCGTGGGCGCCTGCGGAGTGCGGACAGCGAGAATGCCCTCTCTGTGCAGGAGAGGAATGTGCCAACCAAGTGTGAGGAGCTGTCCCTGGCTAGGAGGAGACTGCCCAGGTGGTCTCAGACAAGCTACGGGGGCAAACAGCTGGGCCCCTGGGACCCTTAGGCTCAGCAGGTGGTGGCTTTGGCCCAAATGCACCACATGGGATAAGCCTTGGAGTGTCTGAAGCCTGGCTCCACTATTGTGTGACAAGCCTCTTCTCCTCTCTGATCTTTAGTTTTTCCATGTTTAAACTAGGGAAGAGCACACCCTTCATCCCTGCCATATTAAGATATTTAGGGGCTTTGGAAGGAAATGCATTTGATCAATGCAGAAGAGCATTTAACCATGACTTCAGCCAATCCTCTGCTTCTTAGGACTCTGACTTCAGGTCCGAGTGACTAGGGCACTGGGCTTGCTCCAGATTGTGGTGGAGATGCTCTACTAAGAGATGATGGGTGCTGGGTGAGGGGGAGCCTGAGCCAGAGACCCTGTTCCTGGAGAATGAATGGGATATTCATAAATAATGTACACAAAGTAACTCTTTCCTTCTGCTCTCCTGTAGCTCCCAGTGCCCCCATCAACTGGCGCCGGGGAAAGCTCCTGGGCCAGGGTGCCTTCGGCAGGGTCTATTTGTGCTATGACGTGGACACGGGACGTGAACTTGCTTCCAAGCAGGTCCAATTTGATCCAGACAGTCCTGAGACAAGCAAGGTACACTTAACCCGTGGTCTGACTTCAGTTCCCTCCTTTCAACAAAAATGCCTGTCTTACCACACAGAGTAGTTGCCTGAGATGCTGTAGGTTGCTTCCTCTGTCATTCTTCCCAAACTCCCTTTCTGTCCATCCTGGTCCCAGCCACAGGGTGAAAGGACTGTGGTCTGAAGAGCACCAAGCACCTGGAGGGGAGGGATTGGGTGTAAGGAACTAAGCTGATGCCAAAGTACCAAGTAACCCAAACTGAGAGGTGATGACCTGTGACACAGAGGGGACTCCCTCCCCTAGACAAGTATCTCTCCCCAGCTCTCAGCCCAGGAAGGAGCTGTGGGGCTCCTTCACTTGGTCCAGCTCTAGAGGAGGAATCATATGGCCTGTCTTTGCAGTTCAGCTTTCAACGTCGCTTATACTTCAAGTTCTGTGGACAAACAGCAGTTACCTTAACTAAGCACCCACGGCCCCTTCTCCCACCTCCCTGCCTCCTTCCACCCATGGGAGTGCCACCATCCCAAGGCCTGCCCAGCATTGTGGCCAAGAGCTAGACAGTTAAGAGAGTCCCCCTTTTCTCCAACTGCAGTTCCCAAGGCAGATCCCTGTGAGGCCACTAACTAGGGCAAGCTGAGCTGAACCCAGGCGGGCAGAACTAGGGCCCTGAGAGCTGAGGCGACCACTGACCCCTCCCCTAGGAGGTGAGTGCTCTGGAGTGCGAGATCCAGTTGCTAAAGAACTTGCAGCATGAGCGCATCGTGCAGTACTATGGCTGTCTGCGGGACCGCGCTGAGAAGACCCTGACCATCTTCATGGAGTACATGCCAGGGGTACGTGCCCCTTGAATGCATGTGAGACACACACAAAAGAGGGCCTGACCTGGGGGCTGGGGCCTGCAGGAGGGGGGTCACCTTGGATAGGAGTTTGAACACCTGAGGCTCCAGAGGCCCAGAGGAGCAAAGTGAGGTGATGGTGGGACTTGGAGTCAGGAGGGCCCTGCCTCAGGTTGCAGTGGGAGTATGAGATGACAGCTGTCCTAGGTCCAGCACTCCCCTGAGGCATGCAGGGCTGGCCCACTGTCCAGTAAATGCAGCCTTCATCTGGAGCAGAGAGGCCTCCCTGCTCCTGGATTTGGGTGGCGCTCTGCTTGAGAAGGACTTGGGGTACTCTCTTTTCCAAACTGCCTGACAGCTCCTGGCAAAATGCCCTGCCCAGCCAGATAGGAATTGAACAAATCACTCCTTTGCTGCCATGCTGGGGGCTGGAATGGGCTTGCCCCTCCACCAGCCCTCCCCTGAGGGGACTCCTCTGACTTCTTGTGGCCTCCAGGGCTCGGTGAAAGACCAGTTGAAGGCTTACGGTGCTCTGACAGAGAGCGTGACCCGAAAGTACACGCGGCAGATCCTGGAGGGCATGTCCTACCTGCACAGCAACATGATTGTTCACCGGGACATTAAGGGTGAGCAGGGCCAGGATACATGGAGTCCCCAGGACCTGGGTTCAAGTCTACCATTGAGTGCCTGCAGGGGCCAATCACTTAACCATTCTGAACTTTCTGAAAAGTGGGACCCCAGTTGTTTCCCTGAGGAACTGGTGAGATTGGTTGAGCAATATGAGAGAATATTGCCAAGTTCCCTCTACATGTGGGCCTTGGAGATGGTCATTTTGTGCGGTAGATCTGAGACTCCCCTTTGCTAAATCCTTTGCCCTTTGCAGTTCATGTCTAATTCAGTGGTAGCCCTGCCCTCTCCAGCAGCTCTCAGTGACCCGGGGGTGGGGAGGATGGGAGAAAATGCAAGAGGGTCCAGGGTTGCAGCCTCTGCCCTTTCATGCCTCAGGAGCCAACATCCTCCGAGACTCTGCTGGGAATGTAAAGCTGGGGGACTTTGGGGCCAGCAAACGCCTGCAGACGATCTGTATGTCGGGGACGGGCATGCGCTCCGTCACTGGCACACCCTACTGGATGAGCCCTGAGGTGATCAGCGGCGAGGGCTATGGAAGGAAAGCAGACGTGTGGTGAGCACTGGGACATGCAGAACCCATTCTTCCACCCAGGCCATAGTGGCCCCCCATTAGAAACACACCCTGGGGACTTTGTGGTGTGGCAGGAGGGAGTGTGCCCAGGGCCCAGGCTGCAGTGTGTGCAAGGGTATTATTGGGTGCAGTAGCACACACACCACATGGGTGGTGCTCAAAGCACACTCCATTAGAGCTGGGAACTTAGGCCATGGAAAACATCCCTCATGTTTGCTAAATCTCTTAAGGAAGCAGGATCCACTCTGAAGGCCTGAAGGCCTGGACCAGTCTCTCAACAGGAGCAGGCTTCTGTCCCTTCTCCTAGCACTCAAGACAGTTTGCACTTGCTCGACATAACCTTGTGTCTATCCTCTGAAATGGCCCCTAAGTCAGGAGAGCTTCTCCCCTTGGAAAGCTATTGTGGTGGGCTGAATAATGGCCCCCCCAAAGATGTCCACTGCCTAATCCCTGGATCTGTAAATGTGATTGTATATAGCAAAGGGCCTTTGCAGATAGGATTAGGTTAAGGGTTTTGAGATGGATGGATTATCCTGGATTAAGGGTCCTTACAGAAGGGTCTCAAGAGGTCAGAGTGGCTAATAGGAGGTGAGACAATGAAAGCAAGAGGTTGGAGTAATACAAGGAGGGGACCATGAGCCACGAAATGCAGGTGGCCTCTAGAACCCAGGAAAGGCAAGGAAACAGGTTCTCCCCTCAGAGCCTCTGACAGGAACCAGCCCTGCCGCCACCTTGACTTTAGCCCTGTGAGACTGATTTTAGACCTCTGACCTTCAGAACTGTAAGATGATACATTTGTGTTGTTTTCCTGCCTCTAAGTTT
GTGGCCTGGGCCCTGTAGAGGGGTAAGGAGTAGGATACAAGGAAATCAGTGCCTTCGGGTGTGGCTTGGCCTTGCAAGCAATTGGGAGCCTGTTGGCCAGCCATACACCTTCCCTTTGGCCAGATCTCCCTGAACCAGACTACTTCCTAATTTCTGCTTTTGTCCTGATTCTTGGAGTGCTTGGGACAGCAGCCTCTGTGGAATGAGTCAGGTGGGAGTGCGGACGGGATGGGCTGGAGCTGGTATTATCTATCACTTCTGGCTGAGACCTGGTTTGTATATTCCGCCTTGTAGCCCGGGGTGTCTCAGACCTGGTTTGTACGTTCCGCCTCGTAGCCTGGGGTGTGACTTGCTCTCCTCTGGCCCTTGCACCCTTTCAGGCAGAAGAACATTTCCCCGAATACGGCGTCATCAAGGCAACTTGTTCACCCTGGTGCCCTCCAGCCGCTCCCTGAGCACAAATGGCGAGAACATGGGTCTGGCTGTGCAATACCTGGACCCCCGTGGGCGCCTGCGGAGTGCGGACAGCGAGAATGCCCTCTCTGTGCAGGAGAGGAATGTGCCAACCAAGTGTGAGGAGCTGTCCCTGGCTAGGAGGAGACTGCCCAGGTGGTCTCAGACAAGCTACGGGGGCAAACAGCTGGGCCCCTGGGACCCTTAGGCTCAGCAGGTGGTGGCTTTGGCCCAAATGCACCACATGGGATAAGCCTTGGAGTGTCTGAAGCCTGGCTCCACTATTGTGTGACAAGCCTCTTCTCCTCTCTGATCTTTAGTTTTTCCATGTTTAAACTAGGGAAGAGCACACCCTTCATCCCTGCCATATTAAGATATTTAGGGGCTTTGGAAGGAAATGCATTTGATCAATGCAGAAGAGCATTTAACCATGACTTCAGCCAATCCTCTGCTTCTTAGGACTCTGACTTCAGGTCCGAGTGACTAGGGCACTGGGCTTGCTCCAGATTGTGGTGGAGATGCTCTACTAAGAGATGATGGGTGCTGGGTGAGGGGGAGCCTGAGCCAGAGACCCTGTTCCTGGAGAATGAATGGGATATTCATAAATAATGTACACAAAGTAACTCTTTCCTTCTGCTCTCCTGTAGCTCCCAGTGCCCCCATCAACTGGCGCCGGGGAAAGCTCCTGGGCCAGGGTGCCTTCGGCAGGGTCTATTTGTGCTATGACGTGGACACGGGACGTGAACTTGCTTCCAAGCAGGTCCAATTTGATCCAGACAGTCCTGAGACAAGCAAGGTACACTTAACCCGTGGTCTGACTTCAGTTCCCTCCTTTCAACAAAAATGCCTGTCTTACCACACAGAGTAGTTGCCTGAGATGCTGTAGGTTGCTTCCTCTGTCATTCTTCCCAAACTCCCTTTCTGTCCATCCTGGTCCCAGCCACAGGGTGAAAGGACTGTGGTCTGAAGAGCACCAAGCACCTGGAGGGGAGGGATTGGGTGTAAGGAACTAAGCTGATGCCAAAGTACCAAGTAACCCAAACTGAGAGGTGATGACCTGTGACACAGAGGGGACTCCCTCCCCTAGACAAGTATCTCTCCCCAGCTCTCAGCCCAGGAAGGAGCTGTGGGGCTCCTTCACTTGGTCCAGCTCTAGAGGAGGAATCATATGGCCTGTCTTTGCAGTTCAGCTTTCAACGTCGCTTATACTTCAAGTTCTGTGGACAAACAGCAGTTACCTTAACTAAGCACCCACGGCCCCTTCTCCCACCTCCCTGCCTCCTTCCACCCATGGGAGTGCCACCATCCCAAGGCCTGCCCAGCATTGTGGCCAAGAGCTAGACAGTTAAGAGAGTCCCCCTTTTCTCCAACTGCAGTTCCCAAGGCAGATCCCTGTGAGGCCACTAACTAGGGCAAGCTGAGCTGAACCCAGGCGGGCAGAACTAGGGCCCTGAGAGCTGAGGCGACCACTGACCCCTCCCCTAGGAGGTGAGTGCTCTGGAGTGCGAGATCCAGTTGCTAAAGAACTTGCAGCATGAGCGCATCGTGCAGTACTATGGCTGTCTGCGGGACCGCGCTGAGAAGACCCTGACCATGTTCATGGAGTACATGCCAGGGGTACGTGCCCCTTGAATGCATGTGAGACACACACAAAAGAGGGCCTGACCTGGGGGCTGGGGCCTGCAGGAGGGGGGTCACCTTGGATAGGAGTTTGAACACCTGAGGCTCCAGAGGCCCAGAGGAGCAAAGTGAGGTGATGGTGGGACTTGGAGTCAGGAGGGCCCTGCCTCAGGTTGCAGTGGGAGTATGAGATGACAGCTGTCCTAGGTCCAGCACTCCCCTGAGGCATGCAGGGCTGGCCCACTGTCCAGTAAATGCAGCCTTCATCTGGAGCAGAGAGGCCTCCCTGCTCCTGGATTTGGGTGGCGCTCTGCTTGAGAAGGACTTGGGGTACTCTCTTTTCCAAACTGCCTGACAGCTCCTGGCAAAATGCCCTGCCCAGCCAGATAGGAATTGAACAAATCACTCCTTTGCTGCCATGCTGGGGGCTGGAATGGGCTTGCCCCTCCACCAGCCCTCCCCTGAGGGGACTCCTCTGACTTCTTGTGGCCTCCAGGGCTCGGTGAAAGACCAGTTGAAGGCTTACGGTGCTCTGACAGAGAGCGTGACCCGAAAGTACACGCGGCAGATCCTGGAGGGCATGTCCTACCTGCACAGCAACATGATTGTTCACCGGGACATTAAGGGTGAGCAGGGCCAGGATACATGGAGTCCCCAGGACCTGGGTTCAAGTCTACCATTGAGTGCCTGCAGGGGCCAATCACTTAACCATTCTGAACTTTCTGAAAAGTGGGACCCCAGTTGTTTCCCTGAGGAACTGGTGAGATTGGTTGAGCAATATGAGAGAATATTGCCAAGTTCCCTCTACATGTGGGCCTTGGAGATGGTCATTTTGTGCGGTAGATCTGAGACTCCCCTTTGCTAAATCCTTTGCCCTTTGCAGTTCATGTCTAATTCAGTGGTAGCCCTGCCCTCTCCAGCAGCTCTCAGTGACCCGGGGGTGGGGAGGATGGGAGAAAATGCAAGAGGGTCCAGGGTTGCAGCCTCTGCCCTTTCATGCCTCAGGAGCCAACATCCTCCGAGACTCTGCTGGGAATGTAAAGCTGGGGGACTTTGGGGCCAGCAAACGCCTGCAGACGATCTGTATGTCGGGGACGGGCATGCGCTCCGTCACTGGCACACCCTACTGGATGAGCCCTGAGGTGATCAGCGGCGAGGGCTATGGAAGGAAAGCAGACGTGTGGTGAGCACTGGGACATGCAGAACCCATTCTTCCACCCAGGCCATAGTGGCCCCCCATTAGAAACACACCCTGGGGACTTTGTGGTGTGGCAGGAGGGAGTGTGCCCAGGGCCCAGGCTGCAGTGTGTGCAAGGGTATTATTGGGTGCAGTAGCACACACACCACATGGGTGGTGCTCAAAGCACACTCCATTAGAGCTGGGAACTTAGGCCATGGAAAACATCCCTCATGTTTGCTAAATCTCTTAAGGAAGCAGGATCCACTCTGAAGGCCTGAAGGCCTGGACCAGTCTCTCAACAGGAGCAGGCTTCTGTCCCTTCTCCTAGCACTCAAGACAGTTTGCACTTGCTCGACATAACCTTGTGTCTATCCTCTGAAATGGCCCCTAAGTCAGGAGAGCTTCTCCCCTTGGAAAGCTATTGTGGTGGGCTGAATAATGGCCCCCCCAAAGATGTCCACTGCCTAATCCCTGGATCTGTAAATGTGATTGTATATAGCAAAGGGCCTTTGCAGATAGGATTAGGTTAAGGGTTTTGAGATGGATGGATTATCCTGGATTAAGGGTCCTTACAGAAGGGTCTCAAGAGGTCAGAGTGGCTAATAGGAGGTGAGACAATGAAAGCAAGAGGTTGGAGTAATACAAGGAGGGGACCATGAGCCACGAAATGCAGGTGGCCTCTAGAACCCAGGAAAGGCAAGGAAACAGGTTCTCCCCTCAGAGCCTCTGACAGGAACCAGCCCTGCCGCCACCTTGACTTTAGCCCTGTGAGACTGATTTTAGACCTCTGACCTTCAGAACTGTAAGATGATACATTTGTGTTGTTTTCCTGCCTCTAAGTTT
Task1_train_25258
This sequence change occurs on Chromosome 17, altering STRADA (STE20 related adaptor alpha). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Self-limited epilepsy with centrotemporal spikes
GATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGGACTGTTCAGTGCTCTTGTATGCTCTAGAACACCTCTTGCCCTACCTCCTACGAATGCTTTTAATCTGTACTTCTTATCTGTAGGACTCTTGTAAAGTGTACCTAGGGGTACTGTGTTCCGCATCCCATTCTTCCTTTTTCACTCAGGGCTGTAGTTTCCAGACACATCTGTATTGCTAGCTGTGTACCTTTCATCTTTTCTTCTAATTGTCACCTTGGTTCTGGGAAGAGATCTAACACTTTTACTCATCCATCCTTCTGGGGACAGACACTCACACTACCCCTAACCAACACACGTGTGAATGGTGACATCCAAACATGTCCCCTGATGGGTCTGCACGAGGGTTTCTTTAGGGTGTACATCCAGAAGTGGCATTGATGGTTCTGGTTCTGTGACCCTGACTGGCAGCACCGGGCATCTTCCACCACCTGGACAGGAGGCTCCCCGTCCTTGCCACACTGGGACTCGTCCAGCCTCCCAACCGCTGCCAGTCTCATGTGTATAAGGTGACATCTTGTTTTTCATTTGCTTTTCTCTGATTGCGAGATTTGAGTGGCTCTTCCTATGATGGGTTTGTCTTGGGGTTTCCTCTTTTGTAAACTTCATATCTTTGGCCCATTTTTCTTGCTTTGCTGTCCATTTCTTGTTGATTTGCAAGATTTCCCTGTTACTAATCTCCTGTGGTGACAAAGCTAATATCATCTGCTCTGTCACTTGTTTCTTAACCTTTTTCATGGTATCTTGTATTGGATAGAAATCTTCTTGATCTAATCAAATTCATCAATCTTTTGTCTTATGTTTTGTGCTTCTAAAATGTTGAGAAATTATTACATGCCTCAGGTCACAAAAACATTTTCTCACATTTCCTTCTATTTAAGTCTACAGTTTCACATTTTACATAGAAGCCTTTAATCCAGCTGCAGTCCTTCTCTGTATGAGGAGTTATGTAGGGGTCCAGTTTTACCATTTTCCCTACTATGAGCTGATTTCCTGACACTATCTACTAAGCTATCTGTCTTCGCCCTGGTCTCTCAGCATAAGACTGACTCTGGGGCACAGAAAGAAGGAGGCAGAGAGTGGAGTACAAAGGTCCACATCAGATGTTCCTCTCACACAACACTCAAGACCAAGCTGCTCAGCAAAGAGAAAGTCAGTGGCTTCAGCACTAACAGGCTAAGTGACCATCTCCCAAGTCAGTGGCAAGGTCAGAATCCAGATCCTTCTCTCTTTTTTTTTTTTTTTTTTTCAGACAAGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCCAGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTGTAGTCCCAGCTACTGGGACTACAAGCATGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAGCGCTGTGATTACAGGCGTGAGCCATCGCGCTGGGCCCTGTTTCTTTTCAGAGCAAAGAGATCTTCAGCAAGAATCCAGATCCTTGATTTTAAACTCTGGCTTCATTAACTTCAGTCAAACTTCACTTTACCTGAAGGCTCAGGGGCATAGCTACCCACTGTAATCATGGGAAAGGCCGCCTAAGAACGCACCTGTGTACATATCCCATGTGGTGGATGTAGTCGAGGGCCTTCAGCACCCCCTGCAGGATGTAAGCAATCGCCAGCTCATTCATGCCATCCATGAAGTGTGTACAGATGAGATCTTTTGCAGAACCTGCAGAAAAGGATTGCATGGAGGCAGTGAAAGGTAATGGAGGAGGAAAACACAGGCAATCTGACAACAGAGTCCCAATAACCCCTTTCTACCAAGAACCCTTTCCCACTCACCGTATGCCATGAATGATGTGACAACCCACAGCTCATTGTCTGCAATAAAAGTGGCTCGATATGGCACGATATTGGGATGGTTGAAGAGTTTGGAGACATGCAGCTCGCCCTGGAAGCAATGATGAAGCTGAAGTCAGAACCAAATGGCACTGAAGGATGCCGCTCAACACAAAGATGGCAGCATGGACAATAGGGGGACCTGGCACTTTCTGGGTGTTCTCAGAGTCATGGGAACAGCCTAAGCAGGTGCCTGCCAACATAGGAAAAACAAGGCCCTGCTGCCTCTGCAGGGACCCAGCACTGCTTTGCCTCTGCCAGATAGGGAAACTGCCAACAACAAAGGGTGCCAGCACACCGACTCAGAGATGATGAAGGCAAACTGTTGACTGAAGACTTCTGAAGTTATAAGCTTATCTCAATTTCAAGGGCCAACGTATAGAATTCCTCTTTAAGATAAGAAAACAAAAAATATTTTGTTGTTGTTATTTGTAGAGACAAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCTTCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCAAGCCACTGCACCTGGCCAAAAATGTTTTCTTTTTTATTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGTCTCACTGCAGCCTGAACTTCCCAGGCTCAAGTCATCCTCCCACCTCAGCCTCGCTGGTAGCTGCGACCACAGGTGGACGTCAACATACCTAGCTAATTTTTTATATTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCTAGGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCAGCCCAAAACTATGTTTCTATTATAAAAGAAAACATGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGAGGCAGGCAGATCACTTGAGCCCAAGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTATATGAAACATACAAAAAATTAGTTGAGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCGGGAAGCTTAAGTGGTAGAATCACCTGTGCCTGAGCAGTTGAGGCTGTGGTGAGCTGTGATTGCACCACCGCACTCCAGCCTGAGCAACAGAGCCAGACCTTGTCTCAAATAAAGAAAAAAAAAAGAAAAAGAAAACACAGTTGATGGAGGAGAAGGCCAGCTGAGACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAATCTCCCTGCCTTGCCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCATGCCTGCCCCCTCTCTCAGTTTAACGAGAGAGTGGCTACTTGCTTCTCGAATAGAAAGGAATGTCAGGACTGGGCATAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACTGAGGTGAGTTGATTGCTCGAGCTCAGGAGTTTGAGACCAGCCTGGGCAAGATGGTGAAACTCTGTCTCTACAAAAAATACAAAAATTAGTCAGGTGTGGTGTGCCTATAGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCATTTGAGCCCAGGAGGTTAAGGCTGCAGTAAGCCGTGGTCCTGCCACTGTACTCCAGCCAGGGCAATAAAATGAGACCCTGTCTCGAAAAAAAAGAGGCCAGATGCGGTGGCTCACATTTGTAATCACAGCACTTTGGGAGACCAAGGCAGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGAAGAAACCCC
GATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGGACTGTTCAGTGCTCTTGTATGCTCTAGAACACCTCTTGCCCTACCTCCTACGAATGCTTTTAATCTGTACTTCTTATCTGTAGGACTCTTGTAAAGTGTACCTAGGGGTACTGTGTTCCGCATCCCATTCTTCCTTTTTCACTCAGGGCTGTAGTTTCCAGACACATCTGTATTGCTAGCTGTGTACCTTTCATCTTTTCTTCTAATTGTCACCTTGGTTCTGGGAAGAGATCTAACACTTTTACTCATCCATCCTTCTGGGGACAGACACTCACACTACCCCTAACCAACACACGTGTGAATGGTGACATCCAAACATGTCCCCTGATGGGTCTGCACGAGGGTTTCTTTAGGGTGTACATCCAGAAGTGGCATTGATGGTTCTGGTTCTGTGACCCTGACTGGCAGCACCGGGCATCTTCCACCACCTGGACAGGAGGCTCCCCGTCCTTGCCACACTGGGACTCGTCCAGCCTCCCAACCGCTGCCAGTCTCATGTGTATAAGGTGACATCTTGTTTTTCATTTGCTTTTCTCTGATTGCGAGATTTGAGTGGCTCTTCCTATGATGGGTTTGTCTTGGGGTTTCCTCTTTTGTAAACTTCATATCTTTGGCCCATTTTTCTTGCTTTGCTGTCCATTTCTTGTTGATTTGCAAGATTTCCCTGTTACTAATCTCCTGTGGTGACAAAGCTAATATCATCTGCTCTGTCACTTGTTTCTTAACCTTTTTCATGGTATCTTGTATTGGATAGAAATCTTCTTGATCTAATCAAATTCATCAATCTTTTGTCTTATGTTTTGTGCTTCTAAAATGTTGAGAAATTATTACATGCCTCAGGTCACAAAAACATTTTCTCACATTTCCTTCTATTTAAGTCTACAGTTTCACATTTTACATAGAAGCCTTTAATCCAGCTGCAGTCCTTCTCTGTATGAGGAGTTATGTAGGGGTCCAGTTTTACCATTTTCCCTACTATGAGCTGATTTCCTGACACTATCTACTAAGCTATCTGTCTTCGCCCTGGTCTCTCAGCATAAGACTGACTCTGGGGCACAGAAAGAAGGAGGCAGAGAGTGGAGTACAAAGGTCCACATCAGATGTTCCTCTCACACAACACTCAAGACCAAGCTGCTCAGCAAAGAGAAAGTCAGTGGCTTCAGCACTAACAGGCTAAGTGACCATCTCCCAAGTCAGTGGCAAGGTCAGAATCCAGATCCTTCTCTCTTTTTTTTTTTTTTTTTTTCAGACAAGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCCAGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTGTAGTCCCAGCTACTGGGACTACAAGCATGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAGCGCTGTGATTACAGGCGTGAGCCATCGCGCTGGGCCCTGTTTCTTTTCAGAGCAAAGAGATCTTCAGCAAGAATCCAGATCCTTGATTTTAAACTCTGGCTTCATTAACTTCAGTCAAACTTCACTTTACCTGAAGGCTCAGGGGCATAGCTACCCACTGTAATCATGGGAAAGGCCGCCTAAGAACGCACCTGTGTACATATCCCATGTGGTGGATGTAGTCGAGGGCCTTCAGCACCCCCTGCAGGATGTAAGCAATCGCCAGCTCATTCATGCCATCCATGAAGTGTGTACAGATGAGATCTTTTGCAGAACCTGCAGAAAAGGATTGCATGGAGGCAGTGAAAGGTAATGGAGGAGGAAAACACAGGCAATCTGACAACAGAGTCCCAATAACCCCTTTCTACCAAGAACCCTTTCCCACTCACCGTATGCCATGAATGATGTGACAACCCACAGCTCATTGTCTGCAATAAAAGTGGTTCGATATGGCACGATATTGGGATGGTTGAAGAGTTTGGAGACATGCAGCTCGCCCTGGAAGCAATGATGAAGCTGAAGTCAGAACCAAATGGCACTGAAGGATGCCGCTCAACACAAAGATGGCAGCATGGACAATAGGGGGACCTGGCACTTTCTGGGTGTTCTCAGAGTCATGGGAACAGCCTAAGCAGGTGCCTGCCAACATAGGAAAAACAAGGCCCTGCTGCCTCTGCAGGGACCCAGCACTGCTTTGCCTCTGCCAGATAGGGAAACTGCCAACAACAAAGGGTGCCAGCACACCGACTCAGAGATGATGAAGGCAAACTGTTGACTGAAGACTTCTGAAGTTATAAGCTTATCTCAATTTCAAGGGCCAACGTATAGAATTCCTCTTTAAGATAAGAAAACAAAAAATATTTTGTTGTTGTTATTTGTAGAGACAAGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTCCTTCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCAAGCCACTGCACCTGGCCAAAAATGTTTTCTTTTTTATTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGTCTCACTGCAGCCTGAACTTCCCAGGCTCAAGTCATCCTCCCACCTCAGCCTCGCTGGTAGCTGCGACCACAGGTGGACGTCAACATACCTAGCTAATTTTTTATATTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCTAGGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCAGCCCAAAACTATGTTTCTATTATAAAAGAAAACATGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGAGGCAGGCAGATCACTTGAGCCCAAGAGTTGGAGACCAGCCTGGGCAACATGGCGAAACCCCATCTATATGAAACATACAAAAAATTAGTTGAGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCGGGAAGCTTAAGTGGTAGAATCACCTGTGCCTGAGCAGTTGAGGCTGTGGTGAGCTGTGATTGCACCACCGCACTCCAGCCTGAGCAACAGAGCCAGACCTTGTCTCAAATAAAGAAAAAAAAAAGAAAAAGAAAACACAGTTGATGGAGGAGAAGGCCAGCTGAGACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAATCTCCCTGCCTTGCCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCATGCCTGCCCCCTCTCTCAGTTTAACGAGAGAGTGGCTACTTGCTTCTCGAATAGAAAGGAATGTCAGGACTGGGCATAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACTGAGGTGAGTTGATTGCTCGAGCTCAGGAGTTTGAGACCAGCCTGGGCAAGATGGTGAAACTCTGTCTCTACAAAAAATACAAAAATTAGTCAGGTGTGGTGTGCCTATAGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCATTTGAGCCCAGGAGGTTAAGGCTGCAGTAAGCCGTGGTCCTGCCACTGTACTCCAGCCAGGGCAATAAAATGAGACCCTGTCTCGAAAAAAAAGAGGCCAGATGCGGTGGCTCACATTTGTAATCACAGCACTTTGGGAGACCAAGGCAGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGAAGAAACCCC
Task1_train_25259
A mutation on Chromosome 17 affecting STRADA (STE20 related adaptor alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Self-limited epilepsy with centrotemporal spikes
ACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAATCTCCCTGCCTTGCCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCATGCCTGCCCCCTCTCTCAGTTTAACGAGAGAGTGGCTACTTGCTTCTCGAATAGAAAGGAATGTCAGGACTGGGCATAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACTGAGGTGAGTTGATTGCTCGAGCTCAGGAGTTTGAGACCAGCCTGGGCAAGATGGTGAAACTCTGTCTCTACAAAAAATACAAAAATTAGTCAGGTGTGGTGTGCCTATAGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCATTTGAGCCCAGGAGGTTAAGGCTGCAGTAAGCCGTGGTCCTGCCACTGTACTCCAGCCAGGGCAATAAAATGAGACCCTGTCTCGAAAAAAAAGAGGCCAGATGCGGTGGCTCACATTTGTAATCACAGCACTTTGGGAGACCAAGGCAGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGAAGAAACCCCGTCTTTTCTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGTGCGCCTATAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGGAACATCAGGCAAACAGGAGGCTGAGAGCCAGAAGATGGCCACTGGTGGCAGGGCAGGCACCTTGTGTCTGGAACAAGATGGCCTGGGTTTGAATCCTGCCTCTGCCATGAGCAAGTTACTTAGCTTCTTTCTAAATAATAAATAAATGAATAAAAAAGCCAGAAGGGAGTGTTTGGAGAAGAAAAGGGAAATATAAATTAGGCTGAGCAGCATTTCAGCCCAATCCTTAGTGCCAAATGGCCAGGATTCTCCACTGAAAGCTTCCATAACTTCCGAACGTTTAGTCTCCCTTCATTTCTTTGTAATTCCTTGTAATTCCTATCAGAGCCAAGAGCCCACCCTCCCTCCATGTGACACACTCATGGTTTATTACCTGCAAGAATGTTACCATCTCATTGGAACAAGCTTCTAGGTTAATCCTCCGTACAGTCACGTACTCTCCTGTTGGTTTGTACCTTGCTAGATTCACAGTCATCAGGTCCTCAAATCCTTTGCCTAAAAGAAAAAGGGAATGCCATACGCAAGGACAAGAACAACAAAAGGTTTTAAGAAAATTTTCCTTTAAAAAAGGGACTTGATTTCAAAAGAAACTTAATGTTAAATTTTTCACTACTGTTACTTTTTTTTTTTTCCTTTTCCCAGCAGAATTTAACTGTTATGTTCATGGCTCACATTTCTTGATTTTTCTCTCATCAGTTCCTTCTCAGCCAACCTTTCTGACTCACTATGGCCAGGACACCGGAAACATGGCAGCCACAAAGGAAAGATGGCAAAAGAGCTTCTTTCCTGGAAGTTTGATCTCTTCCCATACTTGGCATAAAAAAACAGAGAAGACCCACAGAAGCAAGTCTGTGCCCATGAATCCTCCTAACTAGTGGATGGCCTCTGCTGTACACACATCTGGGGCTGCTGAGAAAGCTGCAGCAGCCCCTGGAGCAGAAAGCAGGAGAGTAAGGACGGCCCCTGCACATACCTATCACAGTGAGCAGCTCGTAACACCCTCCCTCTGGCAGAAAGCTACTCATGACCTCCTGTTTAGAGAAGGATGCTATTGACTCTGAGCTCGCATCATTGGTCTAAAAAAGAAAAAGAAAAATAGGTTAGTAGAGAAAACTGGGGGTGGGATGGGAGTGGGGTGAAGGTGGTAATTCAGACCCACGAGGAGACTGGCATCTAAACACACACACAAATCCCGACTCAGTGCCAGCACTATTTGAAGAGAAACAAAACACTACATTCAGGGTAGTAATCAGCACTAATATCAGAGCAAGTGTTAGGGTTGTCTACAAATGAGGAGACAAGGACCTGTTCCCATCAAATGTTAATCTGCTTGTCCTTTCCAACAATCAATGCATTTGCTAAAAGCTATGAAATTCTCACTTGGAGAAGGGATGTCTAGAGAATGAAAGCATGTTTGGAAAAGAGAAGCAGGTGGAGAGGTAGGGGTTCTCATGAATTTCCTGATGCATTAGGATCCTATTTTTAAGGTCCTCACCACAAGATCCCAAAAGGTCAAACGCTGAATCTTGCTCTAGGGAAAATGTGGCCAGGAGTAGCCCCCTCTTTAGCAAACCAAGAGCCCGGGCCAGTCATTGCCTGACATTTCCAAGTGAAGTGGGAGAACCCTGATGCCCTGAGCTGCAGGCAAGGCACAGAGCTGTCAGGTCTCAGGCATCGTCCAGGCAGCTGACATGGCCTGCTCCCTCGTTCCTGCCCACGTGTGCTGTGAGTGAAGCTGGAGTCCAGCCACTTAGGATGTGTCACAACTCTGGCCTCTAAGGTCCTAGAGGAAGGTGTCCAGCCATGTCTGAGTTTGTGCAAAACACACGGCAGACCAACAGCTCTTCTTTCAGCTTAATGGACTGTTTCCTTCTTCCACACCTAAATTTATGTGTATGATTTAGGGACTGTGACTGCTTTTCTTTTAGATTCTCTTTCTTTAGATGCACATCTAACTGAAATGGAGAAACCTGGGCCAGCTCATGTTTCATGTGCTGCACTCATAAACCTGACCTCCAGGCAGAAAAAGTCCTTTGTGAAAGTATGAGAGGCTCCTGACCCAGCACTACCCAGAAGAGCACGAGCTGAGAGTGTTCTGAAAAGGCGGTGCTTGAACAACTCTTTGGGAAGCGGCTCTGCAGAGGAAACCATAAAGATGACGGTGCTCTATACCTGTAAGATGACCAGAGTATACTTTCCAGAGCACTTCCAAATTGCACATGATTCCTCCATAGCTCAGTCAAGTAGCCGGGACAGATCTTATCTCCACTTTTCACTAACAAAAACGAGGGCCAAGGAGATTATGTGACTTGCCAAAAATCAAAACGTGAGTACATGGCACAGGACCCAGGCCCAAACCAGTGAGATTAATCTACCACCCTGTTGGCTGACGTTTCACGTGTATCTGGTTTGTTTGTTGTTTTGTTGCTGTTGTTTTTAAGATATGGGTTATCTCTTTGTCGCTCAGGCTAAAGTGCAGTGGTGAGTTCCTGGCTCACCGTGGCCTCGAACTCCTGGGCTCAATTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTATTGGCAGGAGCTGAGATTATTGGCTGTATGTGGTTTCAAAACAGTTGATGCTGCTGATGGGGAAAGAAACCCTCAAGTGGGCTCTGTCTCCCTCACCACTTACCCTGGCAATAAGAGGAACCTAGTCAAGCAAAATTAAGCCCTGTCACCAAATTCCATTTCTAATTTAATCAATTTTTAAATTTCTAAGATTTGGCCATATTGTTGTATTTCACTGTAGTTCGCCCATTTTCACTGCTGTATCATATATTCAGCACATGAATATATCTCAGTTTATCCAATTCCAACTTTGATGGCTCATTTGGGTTGTTTTTCAGTTCTGCTATTATGGACTGTGCTACTATAAACATGTTTGAATATGTATCCTGACTAAAGCTTGTAATTAGGAGTGGCTGGAATTGCTAGTGACAGAGCATATGAACAATCAACTGTTTGAGACAATGCCAAATTATTTTCCAAAATGGTTATACCAATTTACACTCCCACCAGCAACGT
ACTGGCTTCTGCTCCATCCTCAGACCCACCAAACTACTATGAACAGATGAACAGGTCCTAGAGCACCATCAGGTAACCACCAATTCAGAAAAAGTTGTAAATGAAGGAGGGGAGGGGCTGCAACTAACTCTACTGAAGGAAAACTGCCCCAGGCCCTGACTCTAAGCTGGCATCAGGAAAGGAGAGTCTAACTCCCAAGCACTTACTAGACTCACAGTCTCTCTCCGTTTTGTTTTGTTTTATTTTTTGAGCCAGGGACTCAGTCTGTCACCCAGGCTGGAGTTTGGTAGTGCAATCTCAAACTCCCGGGCTCAAGCAATCTCCCTGCCTTGCCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCATGCCTGCCCCCTCTCTCAGTTTAACGAGAGAGTGGCTACTTGCTTCTCGAATAGAAAGGAATGTCAGGACTGGGCATAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGACTGAGGTGAGTTGATTGCTCGAGCTCAGGAGTTTGAGACCAGCCTGGGCAAGATGGTGAAACTCTGTCTCTACAAAAAATACAAAAATTAGTCAGGTGTGGTGTGCCTATAGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCATTTGAGCCCAGGAGGTTAAGGCTGCAGTAAGCCGTGGTCCTGCCACTGTACTCCAGCCAGGGCAATAAAATGAGACCCTGTCTCGAAAAAAAAGAGGCCAGATGCGGTGGCTCACATTTGTAATCACAGCACTTTGGGAGACCAAGGCAGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGAAGAAACCCCGTCTTTTCTAAAAATACAAAAGTTAGCCGGGCATGGTGGTGTGCGCCTATAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGGAACATCAGGCAAACAGGAGGCTGAGAGCCAGAAGATGGCCACTGGTGGCAGGGCAGGCACCTTGTGTCTGGAACAAGATGGCCTGGGTTTGAATCCTGCCTCTGCCATGAGCAAGTTACTTAGCTTCTTTCTAAATAATAAATAAATGAATAAAAAAGCCAGAAGGGAGTGTTTGGAGAAGAAAAGGGAAATATAAATTAGGCTGAGCAGCATTTCAGCCCAATCCTTAGTGCCAAATGGCCAGGATTCTCCACTGAAAGCTTCCATAACTTCCGAACGTTTAGTCTCCCTTCATTTCTTTGTAATTCCTTGTAATTCCTATCAGAGCCAAGAGCCCACCCTCCCTCCATGTGACACACTCATGGTTTATTACCTGCAAGAATGTTACCATCTCATTGGAACAAGCTTCTAGGTTAATCCTCCGTACAGTCACGTACTCTCCTGTTGGTTTGTACCTTGCTAGATTCACAGTCATCAGGTCCTCAAATCCTTTGCCTAAAAGAAAAAGGGAATGCCATACGCAAGGACAAGAACAACAAAAGGTTTTAAGAAAATTTTCCTTTAAAAAAGGGACTTGATTTCAAAAGAAACTTAATGTTAAATTTTTCACTACTGTTACTTTTTTTTTTTTCCTTTTCCCAGCAGAATTTAACTGTTATGTTCATGGCTCACATTTCTTGATTTTTCTCTCATCAGTTCCTTCTCAGCCAACCTTTCTGACTCACTATGGCCAGGACACCGGAAACATGGCAGCCACAAAGGAAAGATGGCAAAAGAGCTTCTTTCCTGGAAGTTTGATCTCTTCCCATACTTGGCATAAAAAAACAGAGAAGACCCACAGAAGCAAGTCTGTGCCCATGAATCCTCCTAACTAGTGGATGGCCTCTGCTGTACACACATCTGGGGCTGCTGAGAAAGCTGCAGCAGCCCCTGGAGCAGAAAGCAGGAGAGTAAGGACGGCCCCTGCACATACCTATCACAGTGAGCAGCTCGTAACACCCTCCCTCTGACAGAAAGCTACTCATGACCTCCTGTTTAGAGAAGGATGCTATTGACTCTGAGCTCGCATCATTGGTCTAAAAAAGAAAAAGAAAAATAGGTTAGTAGAGAAAACTGGGGGTGGGATGGGAGTGGGGTGAAGGTGGTAATTCAGACCCACGAGGAGACTGGCATCTAAACACACACACAAATCCCGACTCAGTGCCAGCACTATTTGAAGAGAAACAAAACACTACATTCAGGGTAGTAATCAGCACTAATATCAGAGCAAGTGTTAGGGTTGTCTACAAATGAGGAGACAAGGACCTGTTCCCATCAAATGTTAATCTGCTTGTCCTTTCCAACAATCAATGCATTTGCTAAAAGCTATGAAATTCTCACTTGGAGAAGGGATGTCTAGAGAATGAAAGCATGTTTGGAAAAGAGAAGCAGGTGGAGAGGTAGGGGTTCTCATGAATTTCCTGATGCATTAGGATCCTATTTTTAAGGTCCTCACCACAAGATCCCAAAAGGTCAAACGCTGAATCTTGCTCTAGGGAAAATGTGGCCAGGAGTAGCCCCCTCTTTAGCAAACCAAGAGCCCGGGCCAGTCATTGCCTGACATTTCCAAGTGAAGTGGGAGAACCCTGATGCCCTGAGCTGCAGGCAAGGCACAGAGCTGTCAGGTCTCAGGCATCGTCCAGGCAGCTGACATGGCCTGCTCCCTCGTTCCTGCCCACGTGTGCTGTGAGTGAAGCTGGAGTCCAGCCACTTAGGATGTGTCACAACTCTGGCCTCTAAGGTCCTAGAGGAAGGTGTCCAGCCATGTCTGAGTTTGTGCAAAACACACGGCAGACCAACAGCTCTTCTTTCAGCTTAATGGACTGTTTCCTTCTTCCACACCTAAATTTATGTGTATGATTTAGGGACTGTGACTGCTTTTCTTTTAGATTCTCTTTCTTTAGATGCACATCTAACTGAAATGGAGAAACCTGGGCCAGCTCATGTTTCATGTGCTGCACTCATAAACCTGACCTCCAGGCAGAAAAAGTCCTTTGTGAAAGTATGAGAGGCTCCTGACCCAGCACTACCCAGAAGAGCACGAGCTGAGAGTGTTCTGAAAAGGCGGTGCTTGAACAACTCTTTGGGAAGCGGCTCTGCAGAGGAAACCATAAAGATGACGGTGCTCTATACCTGTAAGATGACCAGAGTATACTTTCCAGAGCACTTCCAAATTGCACATGATTCCTCCATAGCTCAGTCAAGTAGCCGGGACAGATCTTATCTCCACTTTTCACTAACAAAAACGAGGGCCAAGGAGATTATGTGACTTGCCAAAAATCAAAACGTGAGTACATGGCACAGGACCCAGGCCCAAACCAGTGAGATTAATCTACCACCCTGTTGGCTGACGTTTCACGTGTATCTGGTTTGTTTGTTGTTTTGTTGCTGTTGTTTTTAAGATATGGGTTATCTCTTTGTCGCTCAGGCTAAAGTGCAGTGGTGAGTTCCTGGCTCACCGTGGCCTCGAACTCCTGGGCTCAATTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTATTGGCAGGAGCTGAGATTATTGGCTGTATGTGGTTTCAAAACAGTTGATGCTGCTGATGGGGAAAGAAACCCTCAAGTGGGCTCTGTCTCCCTCACCACTTACCCTGGCAATAAGAGGAACCTAGTCAAGCAAAATTAAGCCCTGTCACCAAATTCCATTTCTAATTTAATCAATTTTTAAATTTCTAAGATTTGGCCATATTGTTGTATTTCACTGTAGTTCGCCCATTTTCACTGCTGTATCATATATTCAGCACATGAATATATCTCAGTTTATCCAATTCCAACTTTGATGGCTCATTTGGGTTGTTTTTCAGTTCTGCTATTATGGACTGTGCTACTATAAACATGTTTGAATATGTATCCTGACTAAAGCTTGTAATTAGGAGTGGCTGGAATTGCTAGTGACAGAGCATATGAACAATCAACTGTTTGAGACAATGCCAAATTATTTTCCAAAATGGTTATACCAATTTACACTCCCACCAGCAACGT
Task1_train_25260
A variant found in Chromosome 17 affects GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
TGATTTGAGGCGCACACTTCTCACCTGCAGCTCTGTTCTTTCTTCCTTGAGATCAGAGGCTGGTTATTGTACTGGGACATACTCTACCTCCTTTTGGCTTCTAATGTCCTTTCCATGAGTTTGCTACCGAGTCAATTACTTGGCTCATTGGATTGAGGTCTTCAGAGAATATTATATGGGGATTCCCAAGGGCTCTCCTAGGGGAGGTGAGGAAGATGATCAATACTTCTGCGTGTCCACCATGTGCTTGGCACTCTACTGACCATAGGGATGTGAGTGAGGATACTGAGGCTCAAAGAGATGAGGTGGCTTGCCTGGAGCTCTCCCAGTTTCTAAGTGATGGCTTCCAAGGCCCCCGGGCTTTCCTTCCATGCCAAGCTCTTTAGAAGTCTCATCTAGTAAAGGTGGTGGCACTACTAGGCATGGACAGAACTTGCCTCAGTGCAAAGCTAGCAGGACAGGGGTGAGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAA
TGATTTGAGGCGCACACTTCTCACCTGCAGCTCTGTTCTTTCTTCCTTGAGATCAGAGGCTGGTTATTGTACTGGGACATACTCTACCTCCTTTTGGCTTCTAATGTCCTTTCCATGAGTTTGCTACCGAGTCAATTACTTGGCTCATTGGATTGAGGTCTTCAGAGAATATTATATGGGGATTCCCAAGGGCTCTCCTAGGGGAGGTGAGGAAGATGATCAATACTTCTGCGTGTCCACCATGTGCTTGGCACTCTACTGACCATAGGGATGTGAGTGAGGATACTGAGGCTCAAAGAGATGAGGTGGCTTGCCTGGAGCTCTCCCAGTTTCTAAGTGATGGCTTCCAAGGCCCCCGGGCTTTCCTTCCATGCCAAGCTCTTTAGAAGTCTCATCTAGTAAAGGTGGTGGCACTACTAGGCATGGACAGAACTTGCCTCAGTGCAAAGCTAGCAGGACAGGGGTGAGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGTGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAA
Task1_train_25261
Chromosome 17 houses a mutation in gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Short stature due to growth hormone qualitative anomaly
AGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTA
AGGTCCCTACACAGGATGTTCAATGAAGATGGGGGGAATTGAACACAAGGAACTTCAGCCACAGAATGAGGTGTCCATAGGCATTAAGGAAAGTGGTAGAAAAGAAGCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGCCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTA
Task1_train_25262
This genomic variant is located on Chromosome 17, within the GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Short stature due to growth hormone qualitative anomaly
GCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAG
GCACCCAGCGTAGCTCGGGTTAGTGAACCGAGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCAGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAG
Task1_train_25263
Mutation context: Chromosome 17, Gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Short stature due to growth hormone qualitative anomaly
GACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTG
GACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAAGAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTG
Task1_train_25264
Given this context: Chromosome 17, gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Autosomal dominant isolated somatotropin deficiency
TTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGAC
TTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTCCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGAC
Task1_train_25265
This variant affects the gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal dominant isolated somatotropin deficiency
ATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGT
ATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTGCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGT
Task1_train_25266
This alteration occurs within gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; GH1-related disorder
TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGTG
TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTTCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGTG
Task1_train_25267
This mutation is located in gene GH-LCR, GH1 (growth hormone locus control region| growth hormone 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Autosomal dominant isolated somatotropin deficiency
TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTCCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGTG
TGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGATGTGTCTAGTAGTTGTAGGAAGTCTGGGGTGCTTTCCTGATGGGGTGCCCTCAGCTGGAAATAGCCCCTCCTTCCTTTGACCTGTCCTGTGGCTATTTGCAGACATTTTATTCCTCTTACCAGACTGTAAGCTCTTTGAGGCTGGATTTCTGCCTTTTGTCTATTCATTCATTCACTCATTCTTCTATTCATGCATTCACCAATTCCACAAGTAGTTGTTGCCTGTAACATGTGCCAGAGATTGTACCAGGCAGATGGGCATATCTAGATAAGCAAAAGACATGATCCTTTCTCTTCTGGAGCTAACAATCTACTGGGGGCAGAGATAATAGCAAACAAGTAAATATATAATGGTTAAATAGAAATTTCGAATTTGGAACATTCTCATGAGGAAAACAGCTAAGATATGGAGGGAGAGAAGAAGCCAGAAGGTGACGGGACGAGGCAGCTGGCACAGCCCTAGGCCCAGGAATTCAACAGGCATCTACTGAGTGGACCCAACGCATGAGAGGACAGTGCCAAGCAAGCAACTCAAATGTCCCACCGGTTGGGCATGGCCAGGTAGCCTATGCTGTGTCTGGACGTCCTCCTGCTGGTATAGTTATTTTAAAATCAGAAGGACAGGGAAGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTAGATCACCTGAGATTAGGAGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAAACAAAAATTAGCTGAGCCTGGTCATGCATGCCTGGAATCCCAACAACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCTTGGTTCCCAATAGACCCCGCAGGCCCTACAGGTTGTCTTCCCAACTTGCCCCTTGCTCCATACCACCCCCCTCCACCCCATAATATTATAGAAGGACACCTAGTCAGACAAAATGATGCAACTTAATTTTATTAGGACAAGGCTGGTGGGCACTGGAGTGGCAACTTCCAGGGCCAGGAGAGGCACTGGGGAGGGGTCACAGGGATGCCACCCGGGCAGCTAGAAGCCACAGCTGCCCTCCACAGAGCGGCACTGCACGATGCGCAGGAATGTCTCGACCTTGTCCATGTCCTTCCTGAAGCAGTAGAGCAGCCCGTAGTTCTTGAGTAGTGCGTCATCGTTGTGTGAGTTTGTGTCGAACTTGCTGTAGGTCTGCTTGAAGATCTGCCCAGTCCGGGGGCTGCCATCTTCCAGCCTCTGCAAAGTGAAGGAAGAGAAGGAGAGGCCAAGCGCTTGGGTACTGTTCCCTCCCTTTCTCATTCATTCATTTTCCTCCCTCCCCTTCAGGGTGTAGAGAAAGGCCTGGAGGATTCACGAGGGGAAATGAAGAATAAGGTGAGTTCTCTTGGGTCAGGGCCTGACTGCTAAAAAGAGGGCAGCAGTGTTTCTCTAACACAGCTCTCAAAGTCAGTGGGGCTCCAGGATTGGGGACCCCTGGCGCCACCCTCACCCCCATCAGCGTTTGGATGCCTTCCTCTAGGTCCTTTAGGAGGTCATAGACGTTGCTGTCAGAGGCGCCGTACACCAGGCTGTTGGCGAAGACACTCCTGAGGAACTGCACGGGCTCCAGCCACGACTGGATGAGCAGCAGGGAGATGCGGAGCAGCTCTAGGTTCTGCAGGGGAAGGACGGGCATTGGCTGTGCTGCCCGGGGGCTCTGACTACAGGTCTCCCCCATCCCCGCCTGGGGAGAAGGCATCCACTCACGGATTTCTGTTGTGTTTCCTCCCTGTTGGAGGGTGTCGGAATAGACTCTGAGAAACAGAGGGAGGTCTGGGGGTTCTGCAGGAATGAATACTTCTGTTCCTTTGGGATATAGGCTTCTTTCTAGGAGAAGGACCGCCCACCAAGGTCTACGCTGGAGACCAGCTCCCATTGTTACTTTTCTGGGAACCTCACTCAGCGTGTGCTCATCTGCCTGCATTTTCGCTTCGGGAAAAACCCTGAGCTCCTTAGTCTCCTCCTCTTATTTCCCAGCGGGGGAAAGTCACCCCTTCCTGCCACCCCTGATGCGCACCCATTCCCCAAGAGCTTACAAACTCCTGGTAGGTGTCAAAGGCCAGCTGGTGCAGACGATGGGCGCGGAGCATAGCGTTGTCAAAAAGCCTGGATAAGGGAATGGTTGGGAAGGCACTGCCCTCTTGAAGCCAGGGCAGGCAGAGCAGGCCAAAAGCCAGGAGCAGGGACGTCCGGGAGCCTGGGGAGAAACCAGAGGGCAACAGAGGGAGCCGGAGAGCAAGAGGCCAGCACTCTCCCTGCTCCAGGAGCTGTTTGTTTTTCTCTCTCCATCCCTCCAGGGACCAGGAGCTTTCTGAGATTGGCCAAATACTGGGCTTACATGGCGATACTCACATTCAGAAGCCCCAAACCTGAGGGTTAGTGCCCCCGTCCCATCTACAGGTCGCTGCCTCTCCCCTCAGGACACATTGTGCCCAAAGGGATTTTAGGGGCGCTTACCTGTAGCCATTGCAGCTAGGTGAGCTGTCCACAGGACCCTGAGTGGTTCGGGGAGTTGGGCCTTGGGATCCTTGAGCTGGTCTCTTGTGGGCCCTTTTTATACCCTGGCCCCTTCTCTCCCACTGTTGACCCCACCTGTTTCTGTGTACATTTATGCATGGGGCCACTGACGGGCTTGTGCTAATGGATAATTTAGAAGCTCCTCCCACACATGCTGGGATCATGCCCCCTGGCTTGTCATCTTTCCCTTCCCACCGTCACCAGTGTTGTGAGGGTTGTGCACAGAGTGTCAGCCAGAGATACCACCCAACTTGTCCTCTCTTTAAGGGTCACGTGGGTGCCCTCTGGCCGCAGGCCATGGTGGCCAACCTGCACGCGGCGAAGGATGTCAGGATAGCCAGTCCTTGAGACCCCCTACCGACCACATCCCATTCTCTATCCTATCCCTTTCCTCCTCCCCGCATGTTTAACCTCCACCCACCAGACAGAATGTGTGTGTTGGGAAAAGGGGCCAAGCACAGCCAATAGATTGTGGGGGTTGTGAGCACGATTCAGTCCTGAATTCCACTTCTGCTGAGGACTCCTGGGTCAGCCTGAGTCAGCTGGATGCAGTTCCAACACTGACCACTAGAGAGAACCAACCCCACACTTTGCTCTCCCCTTTCCCTGAGCATTGCTGGGGCTCCCCCAGGTCCCTGGGGACGAAGAACCCAGACTCAAGGTATTGCCCCAGCTCCTTGGACTTGCAGCAGAGACACAAACCAAGAAACAGAAATCCCGGGAGCAGACACGGACCACAAGCTCTTCCTCCCATAGCCCTGAAACCATCAGAGAATCTCAAAGTTAGAAGAGCTCTTGAAGATTTGAGTCTCTTCCTCAGCTTTGGAACTCAGAACACATCACGCCGAAAGATGCTCTATCAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGTAGATCAAGACCATCTTGGCTAACCAGGTGAAATCCACTCTGTACTAAAAATGCAAAAAAGTTAGCTGGGCGTAGTGGCGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCGTGCTGCTGCACTCCAACCTTGGCAACAGAGCAAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGATGCCCTGTCCAGCCATGGAAGCCCCTCCTCTTTTTTCTCCTCCTCCTTTTCAGATCTGTATAGAGCTTTTCCAGTTGCCGAGGGCCTGCCTGTGCATTCTCACATCTGACCTGCCACTTGTCTTGTGAAGGAGGTATTATTTTCTTCCGATTTCACAGATCAAGAGACTGTG
Task1_train_25268
Consider this mutation in CD79B, GH-LCR (CD79b molecule| growth hormone locus control region) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Agammaglobulinemia 6, autosomal recessive
TCCCACAGCTGGTGAGCTGGAGGGCCCTAGGGACCATTGTTTGAGGACCCTGGGGCCATAGGGGACCTCCGATATGAGGCTGGGAAAGTCTGAAGGGGTCCCCTGGCTAAGAACCCCAAAGCTTCACCATACAAAGCTCCACTCTTCAGGATCTCACTCTTGATGGCTTTGCATCAAGCTTTCCTAGGCTTCCTGGGAGGTGGGGGTGGGAGTGTTGTAGAGGCAGGGAAACCCCTACCCTCAGGGAGCTTCCAGTTTGCCTGGAGAACCAAGGCCAGTGTGAGTAGCACAAGGCAGTAGCTAAGTCGCCGCTGCATAGGCTGGTCTGAGCAGGGCTTGGGCGAGGACCCAGGTGCTTTGGGAGGGCTTCCTGTAGGTGGAGGCAGAGTGGGACTCAATTGCCGCTTTTCGGCTGAATGAAGTGCAAGATGAGGGTGTCCCTGCTGAGGGGAAGGACAGGCCCAGTCACTGGCCAGCTGCTCTGGGTCCAGCTAGGGCCTGGCATGCAGCCCCGTTCCAGGGAGAAGAAACGGGGATGCGACCACAGGCTCCAACTGGGTCTTCGGAGAGGAGGGGTGGCTGTTACCTTTCCCACACCCTCGAGGGCTCACAGATGCCACATTCAAACAACAGAAGTGCCCACATAGATGTTCCTATCCACCCCAAACCCATAAGATGCCACGAGCCTGTGTGTGGTTTCTCAGGACACACCGTTTATTCCACGGGGGAAGGCACTGGAGGCCAGGGCCTCCCTGGGGTGGGAGTGGTTGCGGGAGAGGAATGATGTTCCTGTGGCTCTTCTGGGGCCCAGTTGGGTCCATGGCCCTTCCCAAGCTCTGCTGGGAGGCCCTCGGCTCCGAGTCCATTTGCGGGCTCTGGACCAGTCTCTGCCTCCCCCATCCCATGTGTGGGGACGGATCACCTCATAGCACCCCCAGAAGGCTGGGTCCCGTCCATCCCCAGAGAACTCCCTCCAAGTTGCTGCCCTGTTGTCCTTCTACTCCAGGCCCTTTGGCAAGAGCTGGGGACCAGGGGCTGGAGACAAATGGCAGCTCTGGTGGGCCAGCTTCAGAGGCCAGCTGGGGGGTCCAGGAAAGGGGTTGGGCCATGAGCCAGGCAGCTCCGAAGCAGTCACTGAGGCCAGGGAGCCTGCACCCAGGTCATGGGGCGACCTGGCTCTCACTCCTGGCCTGGGTGCTCACCTACAGACCACTTCACTTCCCCTGTCCGCAGCGTCACTATGTCCTCATAGGTGGCTGTCTGGTCAATGTCCAGGCCCTGGAGACATTAAGTGGAACTCAGGCCGGGACCACACCCCAACCACACCAGCAGATAGTGGCCACTGACCCCGAGGACTCAGAGCTGCTGGGCCTGCCCCTCTCCTTACCTCGTAGGTGTGATCTTCCTCCATGCCAGCCTTGCTGTCATCCTGGGGGCGGAGAGGGATGGAGATCAGAGTGTTAGTGTCCCCCAGCCCCATCCCCTGCTGGGCCAGGCTGGGGAGGGCCAGGGAGAGGGGTGAGGGGTCAGGAGTGAGGTGCATTCTGCAAGAACAGCTGAATGAAGGAAGGAAGGAAGGAATGATTGAATTGGTGAGCCAGTGGGGACAGGCTGGACCAAGAAGGCCACAACGAGAGCTGGGGAGATGGAGACCCTGCATATGCCTGGCCTATGCGGTGGCCTCCTCTGCGGTCCCCCAAGGCTTCCCCCGTCCCCTGATCACCTTGTCCAGCAGCAGGAAGATAGGCACGATGATGAAGAGGATGATCAGCAGCGTCTGGATCATGATGATACCATCCTTCAGCGTGTTCCTCTGCTTCAGCTGTGCCAAGGTGCTGAATCCTGCGGGGACAGGGGTGGGGTTGTGAGCCTGGGCCACAGTCCACCTTTTAGGCCTACAAGGGCAGCTCCCTCAGGTCCCAGTGGCTCTCCTGAGTGCTCTAGGGCCATGACCATCACCACAAGAGGCAGGCCGGGCTAGGGTGGGGCGGACAGCTACAGGAGCGTCCCAGCCACCTGGCACACACCCATGACTCGCAGCTCTGTGCCGCAGCCCTGGTAGACCTCCGAGGTGTTGTTGCACTTCTGCTGACAGAAGTAGATGCCATTGTCCTCAAACCGGATGCCTTGGATGGTGAGGGTGGCGAGAGATTCGTTCTGGGACTCTTCCATGCGGCCCTTTTCCAGCTTCAGCTGCTGGGGATTCTCGTCCATCTCCTGCTTCCAGAGCCAGCTCACATTGCCGGAGGCGCTGTTCATGTAGCAGTGCATTTTCACCGTGAAGCCCCGTTTCCTGGCTATGAAACGTGGGCTCTGCCAGATCCGCGAACAAGCACTACCTGTGGGTGCCAAGGCCAGGCTCAGCATTCCGCTTGGCATCTTCCTGAGTGCCAGCCCCAGCAGCAGGCCCCTGCCCTGGCTGGCACAGACTCCCTGGGCTTAGTCCTTGCTTCTCAGGGTGTGGGACAGGCAGGAGGCTGAGGTTGGAGTTGGGAAGCAGAGCCACGTGAGAGGCTGAGCCACATGAGAAGCCACGGCCAAGCTCTCAGACTCCACCTCTTCCCGACTGCCCCACCTCCCCTTCGATTTTCCTTTGGAAGAGCCCTGGGACCTTGCCATTCCTTCCTATGCCCATTACAACAGCCTGACCCAGGCCACACCCCCAGGACCTGGAGGCCCACAGGCCTGGCCCCTCCTTTCACTGGGCTGCCCTGCACAGGCTTGAAATCCTCAGTCTCCCCCGTTCCTCCAGGGATAAAGGCCAAATTCCTAGTCTGTCAACTGAGACCTTCCTCAGTCGACCCCCTCCCTGCATGACTTCCCTCTATCATCCCCCTCTTCCCTCCTGCAGGGACTGGGTCCACTTCTTGTTCCAGAACCCTCTTTCCAGCTTCGACTGCCTTGTTCTTAGTGAGCACTGCCCGGGAATCCCTGAGCCCCTCACATAGTGACCCTGCACTGGAGGGCTCACCCGAGACTCAGCCAGATTCCCAGCTAGACAGGCCCGGGCCTGAGTCCTAGAGGAACCCCCAGGCTCCCTTGCTATGACCCAGAGTTTAGCCCAGCCCTTCAGTGGCCAAGGCTGGAGGGCATGTGTCTGATGAGGATGACAGTGGGCTGGGGGTGGGGCTCAGAGGAGATCCTAAGGAGGCCTGGGGATGGGAATCCTGGATGGGGAGATCAGGCAAGGGTGGGAAGGCGGACCGCCCCCAGGACAGGGACCATAGTCGGACACAGGACATAGTCGCACACAACTTGCCCTCAGAAGCGGCAGGCGAGGCTACTGACCTTTGGGATTCCGGTACCGGTCCTCCGATCTGGCTGCTGGTACTGGCTCAGCTGCTGGGTGGGAGGAAGTGGGCGGGGCCAGTCAGGGCCTCCTCTGGCCTGGGCTGCCCCACCCCTGCATGCCCTCTATGTTCCCGGAGCTACTTCCTCCTTCCATGACAGCAGCTTCAAGACCCCTCGGTCCTCCCTGCCCCCAGTACTTGGGAGACAGATATGGGGTGGGGGTACCGGAAGCCCTGCCCCCAGCCCCCTTTCTGCCTTTGACCCTCATGGTGGCTTTGAGCAGGCATCTGAATGAGACAGGAGGGACAGGGAAATCTCAGTATTTTGAGAGGCCAAGACAGGAGGATCGCTTGGGTCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGACACCCTGTCTCTCTTTTTTTTTTTTTTTTTAAAGAGAGACAGGAAGAAAGTCACAGCCCGGAGGATCTTTCACCTCCCAGAGGAGGGGACCACATTTGGATCTTGCATCTTCCAGGGTCCGGTTGGGACAGCCTCTCCCCTCCCGACCCCCAGGCACCGCCCTCAGCCTCTCTTCCTCCTGAGCCTAGTTCTTCCACGGTCCTGGTTGCTAACTCTGGTTTGCTCCTCATGCCCAGCTCAGCCTGATGCTCTCCAGGCAGGAGAGGAACTGGGGCCACAGGCTCCTGAGCCCATCACCACGTGCAGCTGACACCCACAGACCCAGGCCCCAGGGCCATGAGAGGGAGACAGGCGGTAAAGAGTGAGAGACAGAGGAGGAGGGTGGAGCAAGCAGGAGGCAGAGCCGCAGGGCCC
TCCCACAGCTGGTGAGCTGGAGGGCCCTAGGGACCATTGTTTGAGGACCCTGGGGCCATAGGGGACCTCCGATATGAGGCTGGGAAAGTCTGAAGGGGTCCCCTGGCTAAGAACCCCAAAGCTTCACCATACAAAGCTCCACTCTTCAGGATCTCACTCTTGATGGCTTTGCATCAAGCTTTCCTAGGCTTCCTGGGAGGTGGGGGTGGGAGTGTTGTAGAGGCAGGGAAACCCCTACCCTCAGGGAGCTTCCAGTTTGCCTGGAGAACCAAGGCCAGTGTGAGTAGCACAAGGCAGTAGCTAAGTCGCCGCTGCATAGGCTGGTCTGAGCAGGGCTTGGGCGAGGACCCAGGTGCTTTGGGAGGGCTTCCTGTAGGTGGAGGCAGAGTGGGACTCAATTGCCGCTTTTCGGCTGAATGAAGTGCAAGATGAGGGTGTCCCTGCTGAGGGGAAGGACAGGCCCAGTCACTGGCCAGCTGCTCTGGGTCCAGCTAGGGCCTGGCATGCAGCCCCGTTCCAGGGAGAAGAAACGGGGATGCGACCACAGGCTCCAACTGGGTCTTCGGAGAGGAGGGGTGGCTGTTACCTTTCCCACACCCTCGAGGGCTCACAGATGCCACATTCAAACAACAGAAGTGCCCACATAGATGTTCCTATCCACCCCAAACCCATAAGATGCCACGAGCCTGTGTGTGGTTTCTCAGGACACACCGTTTATTCCACGGGGGAAGGCACTGGAGGCCAGGGCCTCCCTGGGGTGGGAGTGGTTGCGGGAGAGGAATGATGTTCCTGTGGCTCTTCTGGGGCCCAGTTGGGTCCATGGCCCTTCCCAAGCTCTGCTGGGAGGCCCTCGGCTCCGAGTCCATTTGCGGGCTCTGGACCAGTCTCTGCCTCCCCCATCCCATGTGTGGGGACGGATCACCTCATAGCACCCCCAGAAGGCTGGGTCCCGTCCATCCCCAGAGAACTCCCTCCAAGTTGCTGCCCTGTTGTCCTTCTACTCCAGGCCCTTTGGCAAGAGCTGGGGACCAGGGGCTGGAGACAAATGGCAGCTCTGGTGGGCCAGCTTCAGAGGCCAGCTGGGGGGTCCAGGAAAGGGGTTGGGCCATGAGCCAGGCAGCTCCGAAGCAGTCACTGAGGCCAGGGAGCCTGCACCCAGGTCATGGGGCGACCTGGCTCTCACTCCTGGCCTGGGTGCTCACCTACAGACCACTTCACTTCCCCTGTCCGCAGCGTCACTATGTCCTCATAGGTGGCTGTCTGGTCAATGTCCAGGCCCTGGAGACATTAAGTGGAACTCAGGCCGGGACCACACCCCAACCACACCAGCAGATAGTGGCCACTGACCCCGAGGACTCAGAGCTGCTGGGCCTGCCCCTCTCCTTACCTCGTAGGTGTGATCTTCCTCCATGCCAGCCTTGCTGTCATCCTGGGGGCGGAGAGGGATGGAGATCAGAGTGTTAGTGTCCCCCAGCCCCATCCCCTGCTGGGCCAGGCTGGGGAGGGCCAGGGAGAGGGGTGAGGGGTCAGGAGTGAGGTGCATTCTGCAAGAACAGCTGAATGAAGGAAGGAAGGAAGGAATGATTGAATTGGTGAGCCAGTGGGGACAGGCTGGACCAAGAAGGCCACAACGAGAGCTGGGGAGATGGAGACCCTGCATATGCCTGGCCTATGCGGTGGCCTCCTCTGCGGTCCCCCAAGGCTTCCCCCGTCCCCTGATCACCTTGTCCAGCAGCAGGAAGATAGGCACGATGATGAAGAGGATGATCAGCAGCGTCTGGATCATGATGATACCATCCTTCAGCGTGTTCCTCTGCTTCAGCTGTGCCAAGGTGCTGAATCCTGCGGGGACAGGGGTGGGGTTGTGAGCCTGGGCCACAGTCCACCTTTTAGGCCTACAAGGGCAGCTCCCTCAGGTCCCAGTGGCTCTCCTGAGTGCTCTAGGGCCATGACCATCACCACAAGAGGCAGGCCGGGCTAGGGTGGGGCGGACAGCTACAGGAGCGTCCCAGCCACCTGGCACACACCCATGACTCGCAGCTCTGTGCTGCAGCCCTGGTAGACCTCCGAGGTGTTGTTGCACTTCTGCTGACAGAAGTAGATGCCATTGTCCTCAAACCGGATGCCTTGGATGGTGAGGGTGGCGAGAGATTCGTTCTGGGACTCTTCCATGCGGCCCTTTTCCAGCTTCAGCTGCTGGGGATTCTCGTCCATCTCCTGCTTCCAGAGCCAGCTCACATTGCCGGAGGCGCTGTTCATGTAGCAGTGCATTTTCACCGTGAAGCCCCGTTTCCTGGCTATGAAACGTGGGCTCTGCCAGATCCGCGAACAAGCACTACCTGTGGGTGCCAAGGCCAGGCTCAGCATTCCGCTTGGCATCTTCCTGAGTGCCAGCCCCAGCAGCAGGCCCCTGCCCTGGCTGGCACAGACTCCCTGGGCTTAGTCCTTGCTTCTCAGGGTGTGGGACAGGCAGGAGGCTGAGGTTGGAGTTGGGAAGCAGAGCCACGTGAGAGGCTGAGCCACATGAGAAGCCACGGCCAAGCTCTCAGACTCCACCTCTTCCCGACTGCCCCACCTCCCCTTCGATTTTCCTTTGGAAGAGCCCTGGGACCTTGCCATTCCTTCCTATGCCCATTACAACAGCCTGACCCAGGCCACACCCCCAGGACCTGGAGGCCCACAGGCCTGGCCCCTCCTTTCACTGGGCTGCCCTGCACAGGCTTGAAATCCTCAGTCTCCCCCGTTCCTCCAGGGATAAAGGCCAAATTCCTAGTCTGTCAACTGAGACCTTCCTCAGTCGACCCCCTCCCTGCATGACTTCCCTCTATCATCCCCCTCTTCCCTCCTGCAGGGACTGGGTCCACTTCTTGTTCCAGAACCCTCTTTCCAGCTTCGACTGCCTTGTTCTTAGTGAGCACTGCCCGGGAATCCCTGAGCCCCTCACATAGTGACCCTGCACTGGAGGGCTCACCCGAGACTCAGCCAGATTCCCAGCTAGACAGGCCCGGGCCTGAGTCCTAGAGGAACCCCCAGGCTCCCTTGCTATGACCCAGAGTTTAGCCCAGCCCTTCAGTGGCCAAGGCTGGAGGGCATGTGTCTGATGAGGATGACAGTGGGCTGGGGGTGGGGCTCAGAGGAGATCCTAAGGAGGCCTGGGGATGGGAATCCTGGATGGGGAGATCAGGCAAGGGTGGGAAGGCGGACCGCCCCCAGGACAGGGACCATAGTCGGACACAGGACATAGTCGCACACAACTTGCCCTCAGAAGCGGCAGGCGAGGCTACTGACCTTTGGGATTCCGGTACCGGTCCTCCGATCTGGCTGCTGGTACTGGCTCAGCTGCTGGGTGGGAGGAAGTGGGCGGGGCCAGTCAGGGCCTCCTCTGGCCTGGGCTGCCCCACCCCTGCATGCCCTCTATGTTCCCGGAGCTACTTCCTCCTTCCATGACAGCAGCTTCAAGACCCCTCGGTCCTCCCTGCCCCCAGTACTTGGGAGACAGATATGGGGTGGGGGTACCGGAAGCCCTGCCCCCAGCCCCCTTTCTGCCTTTGACCCTCATGGTGGCTTTGAGCAGGCATCTGAATGAGACAGGAGGGACAGGGAAATCTCAGTATTTTGAGAGGCCAAGACAGGAGGATCGCTTGGGTCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGACACCCTGTCTCTCTTTTTTTTTTTTTTTTTAAAGAGAGACAGGAAGAAAGTCACAGCCCGGAGGATCTTTCACCTCCCAGAGGAGGGGACCACATTTGGATCTTGCATCTTCCAGGGTCCGGTTGGGACAGCCTCTCCCCTCCCGACCCCCAGGCACCGCCCTCAGCCTCTCTTCCTCCTGAGCCTAGTTCTTCCACGGTCCTGGTTGCTAACTCTGGTTTGCTCCTCATGCCCAGCTCAGCCTGATGCTCTCCAGGCAGGAGAGGAACTGGGGCCACAGGCTCCTGAGCCCATCACCACGTGCAGCTGACACCCACAGACCCAGGCCCCAGGGCCATGAGAGGGAGACAGGCGGTAAAGAGTGAGAGACAGAGGAGGAGGGTGGAGCAAGCAGGAGGCAGAGCCGCAGGGCCC
Task1_train_25269
A variant found in Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Hyperkalemic periodic paralysis
CGCACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCAT
CGCACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTAAATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCAT
Task1_train_25270
Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25271
The following genetic variant occurs in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hyperkalemic periodic paralysis
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25272
A genetic alteration is present in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Hypokalemic periodic paralysis, type 2
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25273
A mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Potassium-aggravated myotonia
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25274
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Congenital myopathy 22A, classic
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25275
Consider this mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Congenital myopathy 22B, severe fetal
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25276
A genomic change on Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Paramyotonia congenita of Von Eulenburg
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25277
This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital myasthenic syndrome 16
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25278
Mutation context: Chromosome 17, Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25279
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Hypokalemic periodic paralysis, type 2
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25280
A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Potassium-aggravated myotonia
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25281
Given a variant located on Chromosome 17 and affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Paramyotonia congenita of Von Eulenburg
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25282
This mutation occurs in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hypokalemic periodic paralysis, type 1
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25283
A mutation found in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Congenital myasthenic syndrome 16
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
CACTTGAACACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACACGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATAT
Task1_train_25284
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypokalemic periodic paralysis, type 2
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCATGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
Task1_train_25285
This sequence change occurs on Chromosome 17, altering GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hyperkalemic periodic paralysis
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCATGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
Task1_train_25286
This variant lies on Chromosome 17 and affects the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Paramyotonia congenita of Von Eulenburg
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
ACACACACAGCTATACACACAGGCCTATAAAAGCATACAAGCAGACACACAGCCACAGGTACACACACAAGTGAATAAATCCAGCGACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCATGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCT
Task1_train_25287
A genetic alteration is present in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Hyperkalemic periodic paralysis
ACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGC
ACGCCTGAGCAGGTCTCTCACCCCTCCTCCTGAGCCAGCAGAGGCCTGGCCCTGCCATGCCCAGAACAGCGATGCAGCAGAAGTGCTTCTTCAGGCCACAGGAAGTTGGAAGGTTGAGCCTGAACCAGTTGGGCCTTCCCTGCTGCACGCCCCAGGGTCGAAATATCTAACCTGAGCTCAACTGTACATTCTTAGGATCACTTTGGGGAGAGAGGTGGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCAGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGC
Task1_train_25288
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
GGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGG
GGGAAAGGTGAGAAAGAGACGGGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGGGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGG
Task1_train_25289
A variant found in Chromosome 17 affects GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Hyperkalemic periodic paralysis
GGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGT
GGCGTGGGGAGATGAGAAGGGAGATCTCTGAGGCTGGATGAGGCTCCTGGAGCCCTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGTCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGT
Task1_train_25290
Assess the clinical impact of this variant on gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hyperkalemic periodic paralysis
CTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAA
CTGGTGGTGCTCACGGAGGAGTGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGTGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAA
Task1_train_25291
Consider this mutation in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Paramyotonia congenita of Von Eulenburg
TGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGA
TGAGGCAGGGAGAGAGGGAAGGGGCGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCTCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGA
Task1_train_25292
This alteration occurs within gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Hyperkalemic periodic paralysis
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACAGGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
Task1_train_25293
Gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Delayed gross motor development
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACATGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
Task1_train_25294
This variant impacts the gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hyperkalemic periodic paralysis
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACATGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
Task1_train_25295
A genetic alteration is present in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Potassium-aggravated myotonia
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
CGAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACATGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGT
Task1_train_25296
A variant has been detected on Chromosome 17 in GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Hypokalemic periodic paralysis, type 1
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACAGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
Task1_train_25297
Chromosome 17 houses a mutation in gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Hypokalemic periodic paralysis, type 2
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACAGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
Task1_train_25298
The variant affects gene GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hyperkalemic periodic paralysis
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACAGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
Task1_train_25299
A variant was discovered on Chromosome 17, affecting GH-LCR, SCN4A (growth hormone locus control region| sodium voltage-gated channel alpha subunit 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hyperkalemic periodic paralysis
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACGGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC
GAGAATCTTCTTACTGAGCAGCAGGTCCCTGACTCCCGCTCAGGTCTGGATGCTCAGGCCATGTGCAGCGATCCAGCTGGCAGGACCCAGCCTGTCTCACTCCCCCGTGCTTCCTAGAAAAGGACAATTCATTCCCAAGTGGCATCCTTCCTTCTGCTCTTCCCCTAGGAGCCAGCCAGGGGAGCTACGGACCTGGACGTGGCCTAGGAAGAGGTTTCAGGAGTCACCATCCCAGCCCAAAGCAGCAGGATCCAGTGGCCAATCAGGTTTTGAGGCTTTGAGGAGCTATTTCTGAACCAGTCACATTTCCCTTTTCCAGGGAATTCCTGAGCTGGCCTGGTGGGTGAAGCTGCACCCCAGAGTCAAAGGGGGTGGGCTGGCAGTGCCCTGGGGTTAGGTGTCTGCACTCCCTGAGGTTAAGACATCTTTGTCTGGGCTGGGGCTGAGGGGTCTGAGCCACTTCCTGGGGAGAGGCCAGTGACCCTTAAGACTCTGGTGATGGGGGGCAACTGATCCCTCCACCGCAGGCCAGCTCCTCCTCAAGTGAGGGGCAGAGATTCGAATGTTCTGACCTCCCCCAGGCCAAAAGGAGGGGCGACAGGGCCCAGAGGAGGTCAGAGCAACTTGCAGGTTAAATCTTGGAGGCAGGGGCCTCAGACCCAGCATGGAGCCCCTGAGCGCAATTCCCATTTCCCATGGTCTGGGAACGCAGGCGCTCGGGCCTGGGTGTCAGCCCCAGTGTGGCCAAATCCTGTCCCCCATCAGGGAGCCAGGCACAGTCCCAGATTCAAAGCCCTCCTCCCTCACTCTGTGTGCAGGCACCACGGGGGAGCTCTGGGGACTATGCCGAGACTCAGTGGGCCACCCCGATGCTGCCTGCTAGACAAGAGACTCCTTGACACCTGGGCGCACAGTCTGCCCTGGGGGAGGGGCGGGAGGCCAGGCAGTGTCTGAGGGGCTGATGGGCATCAGCCCCATAGTGGGTCCGGCGTCCCCTGCCTCGCCCTTCTCCTCCGGGCTTGGCGAGCTGCTGTTCCCATTCTCGTGGCCATACATCTTGCTCATGGTGTTGGCAAGCAGCCCCTCCTTCTCAGGGGCGTCATCCCCGCTGCCGTCGTGGCTGTGGCGGTACATGTAGGATGCCTGCTTCATGGAGCGCTGTAGCAGGTGCCGGCGGTAGGCCCTCTGGATCTTGATGGCGCACACCTCCTCGTGCTTCCTCTTGAGGGTGGTGGTGATGGGCTCGTAGGACACCTTGGAGGGGTTGGCTGCCATGAACTTCTCCTCCATGGTCTGCTTGAGGGCGTCCATTTCCCCAGAGTCACCCAGGACCTCTTTGGTCAGGGCAAAGAGGATGTCCAGGCAGTGGATCTTGTCCCCTGGCACCATGGGCAAGTCCAGTGTGATGAGCTTGATCTTGTTGGGCTTGGCAATCCTCAGCGGTTCCTGCAGGGTGTCCACGAAGTCTGAGAGGCGGCTGTAGGCGATGAACTGGGTGGCGTCGGGGTCGAACTTCTCCCATGTCTCGTAGAACATCTCAAAGTCATCTTCACCAAGGGGCTCGCTGCTCTCCTCTGTGGCCACATTGAAGTTCTCCAGGATGATGGCGATGTACATGTTGACCACGATGAGGAAGGAGATGATGATATAGCTGCAGAAGAAGCAGATGCCGATGGAGGGGTTGCCGCAGTCACCCTTGACACTGGTGCCCGGGTTCTCCAGGTTGGGGTCACAGTCTGGGGGCCCGCTGTTGAGGATGGGGTTGAGGAGCCCGTCCCAGCCGGCCGACGTGGTGATCTCGAACAGGCAGATGATGCTGTTGCCGAAGGTCTCGAAGTTGAACATATCATCGATGCCCGACTCCTTCTTGACGTAGGCAAAGTTGGACATGCCGAAGATGGAGTAGATGAACATGACCAGGAAGAGGAGGAGGCCGATGTTGAAGAGGGCAGGCAGCGACATCATGAGGGCGAACAGCAGCGTCCGGATGCCCTTGGCCCCGCGGATCAGCCGCAGGACACGCCCAATCCGCGCCAGGCGGATCACACCGAACAGCGTGGGTGACACGAAGTACTTCTGGATCAGGTCAGAGAGGGCAAGGCCTGCGGGGAGAAGCTAGTGAGGACGCTGCCACTGGGGAGGGGGGCCGGCACAGGGTGTGGGGAGCATGCGGGGCTCAGGGGGCCCGGCCTGGTGTGCTCTGCTCAAGTCTCAGAGCACAGCCCAGATGACTGACAGGTGAGGCTGGGCTCTCCCACGGGTCTTGGGGCCAGGGGCTGCAGCTTTGTCTTGATGGAACTGGAGGTGGGATACCCTGAAGTGGGGGAGTGTAAGGCCCATTCCCAAGGCTGTTTGCAAATGCCACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGGGAGACAGAACAGCTGCGTGACTCTGGGTCTCCACTTCACTTGTTTGTGCCTCAATTTCCTTACCTGTAAAATGGGAACAACAGTTCCTGATCATGACATTGTTATGAACAACAGGTGAGATAACACCTGTCAAGCGCACAGCACAGTTGATAATAAATGGCAGCTACTTTCTATCATAAGCACACGCATGACTGTGCACTTCTCAGTGCACACAGACATGGAACCATCTTTTACACTTTTCGCTCAGTATGTGGGCACCTGAGTGCACGTCTTCTGGTCAGTTGTGTGTCCTGAGGTGCATCCATGTGTGCGCGGGTGACGATCTGCCTGTGTGCACACCATGTGCCTTTGTGCATTGAGAGTGAATGGCAGGCACGCACAGGCATGTGTCTGGGTGAGCGTGTGAGGGTGCAGGGGCAGGTGTGTCCGTGTGAGGATGGGTCTTCCCGAGTGCCTCAGCTCAGTGCTGCCCTGCCGGTCCAGCCCGCCCCGCTCACCCACAATGGACAGGATGACGACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCAGGGCGAGCATCTTGAGCACGCACTCCCCTGTGAAGATGATGATGAAGATCATGTTGATGTTGTACAGGATGTCCACCTTGAGCTGGCTCTGGTTGTCTGTCTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGGTGATGTCGAAGGCCTGCTTCGTCACGAGGTCATACACCATGCCCTGGATCTTGTTCTGCAGCATGGGTGGGAGTGGATGTGGAGGAGTTGGGGTGGCCAGGCCCAGACAGGACATGGACAGGCAGGAGGCACAGGATGGCACCACAGCATGACAGAGATGACAGAGATGACAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAGGTGTTGGGGGTTGTGGTGGAGTCAGCCAGGGGAGGAGGGGTGACCCATCAGATCATGACAGGTCTGGGACCAGGTCATTTTATGGGGTTCATGGTCCTCCCTTCAAGATCCCCCAGATGCTCCTCCCCTTTCTTCCAAAGTCATTGCTCCTGGGTAGGGTGTCTGGACATCCTCCTCCTTCCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGTACCTGGGGCCGGGGAATTGGCTTCTGAGGCTTCTTGGAGCCAAGCTTCTTCATGGCGTTATAGTATTTCTTCTGTTCCTCCGTCATAAAGATGTCTTTCCCCCCTAAGTATAGTGGGATAGGGCTTGTCAGGTTGAGGTGCAGTTCCCCTTCCTGCCTCCAGGACCACCCCCACCTCAGTGGGGCACCTCACCTTTAAGGCAGCCCCCGCCCCTGTTGATCAGCCTGGAGGAAGCGGGAGGGTC