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_22900
A mutation found in FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Spastic paraplegia
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACTAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
Task1_train_22901
Here is a variant affecting FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Spastic paraplegia
TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGG
TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCGTGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGG
Task1_train_22902
Given this context: Chromosome 16, gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Hereditary spastic paraplegia 35
CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCACGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
Task1_train_22903
This genomic variant is located on Chromosome 16, within the FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Spastic paraplegia
CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCACGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGAGATCGAGACCATCTTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCTGTGGAGGCACGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGG
Task1_train_22904
A genomic change on Chromosome 16 affects LDHD (lactate dehydrogenase D). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Lactic aciduria due to D-lactic acid
ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACTTCCAGGTAGCTGTAGGTGGGTTTCAGGTTTATTACAGATTTATTGGGGGAGGCCCCAAGGAGAAGACCTATCATCATGTCACGGGAGCTCACGTTCCATACCAGGAAAGGAGTGTTCCTGTCACCAGGTGAAGGGGGAAGGGTCCTGGGACCCCGGCAGTGGGAGGCCTCGGGGAGGGGTGTCATCAGAGTCTTGAATGGACCCAGACGCTCTCTTCCCGCCAGGACAGGATGCGTAGGAGCAGAGAGGAAGCAGCTTTGCTGGGAACCACCCTGGGTCGTTTACTGAACCAAAGGCTCCTGGGGCCAGCCAGAGGGCCAGGGAGGTAACACGGTGCTCAGGCTTCTCTCTGGGCCCTCTGGCCTTGGGCCCAGATACAGTGGGCTCGCTGGCAGGAAGACTGCCTCAGCATCTATTTCCTTGCAGGGGCCGTGGCATGAAGAAAAGTTCCAGAACCGGCTCCGTAGTCAGGGAACTTGTGGGCTAAGTGCTCAGACCCCCTTCACAGCACTTTGCCTGGATTCATGAGGCCTTGGGGGTCTAGCACGGCCTTGAGCTGCCGCATGGTCTCCACGCCCACGGCGCCCACCTCCTCCTGCAGCAGCTGCCGCTTGCCCATTCCGATGCCATGCTCCCCCGTGCACGTTCCGTGGAGAGCCAGTGCCCGCCTGGGGGCAGGAAGGAGACATCCTCAGGGGGCTCCCTTTCCTCTGCCCTCAGCTCTTCCCCTCCCTGGCTTTGCTCCTACCTGCCCAGCTGTTCTGCAAAAGCCTTGACCCTGCCCAGTTCCTCGGCGTCATCAGGGTTGACCAGCAGGATGCAGTGGAAGTTGCCGTCACCCACATGCCCGACAATGCTTCCTGGGGGCCCAGAGGACAGAACTATTCTCCAGCCCAGTCCTCCTCTTGCCTCCTGCTGCCCCAGGCTCTGATCAGCCCTGACACCTCCCCACCTCTCCCCAGCAGCAGGGTGGGCAGAACCTGTGAGTCCTGAGGCATTCAGATCCTCCTTGGTCTGCACCACGATCTCCGGCAGCCGGGAGATGGGCACACACACATCCGTGGAGTAGCCCTGGTCAGAGGGAAGCCTATGAGTTACCCCTGCCTGATTGGGTGTACGGGGTCACCGTGGTCAAGGCTGAGGATGGGTCGGAGGGCACTGGGCTTCAGCTCTTGGCCTCACACAAGGAAATAATCCTGCTCTTCTCTAGGCCTCAGCCCTCACCTCCCCCCGACACAACACAGGAGACCAATGGCCCAGGTGTGCTTGCCACACCTCCCCTGTGGCTCCCACCCCCAAGCCCCAGGCTGCTGAGCCTTTGCATAGCTGCCTGGAGCCCAGACTTCCCTTCCCCAGGTTAGGCTAACATCCCCCTCTCTATCATCTCTTCCTCCAGGAAGCCTTCCTTCCATGTACAGCTCCCAAGAGCACCGCACCGTTCCCATGACCTGGCTCACAGGAAGGGCTTTTGAGGGCTTAGCAGACAACTGTGCTTTCCCTGTAGACGGTATCTGAACAGCTGGGTGGGGCGGTCTGCAGCCCTTGTTTCTAGCGCCTGCTCAGCCAGGCCCAGCCCCGTTGTTGAGGCTCAGCCTGCTGCTCTGTGCAGTAGAGTGGTGGGTTGAGGAAAGGGTTTGTGGGCCGAGCTGTGGGCCCCATCTGTACCCCAGCCCCAGCTCACCTTGCAGCCTGGCCGCGTGGCCAGGGCTGCGTACCAGGCATTGTGCCGTGCTGTCCAAAGCCGGCTGCGCTCCTCGGCCTCCTTGGCCCAGGAGAAGTCAGAGGCTCCGTTCTGCTGGACTATCTCCTCTGCAGTTGGGGAAGGGGGGCTGACACCGGGCCGCCACTGAGGCAGCCCACCCTGCTGCCCCACTCCACCCCAGCATACCTGTGCGCTGCAGCTGCTCCTCCAGTGCCTGCTGGGAGCCATGGAACTCCAGGAAGAGTGTGGGCGCCACTAAGCAATTCAGCTTGCTGTACCTGTTGCAGGCATCCATCATGACTTCATCCAGGAACTCTGGATCCAGGGAGATGGCAGGCCAGGTGAGGCCTGGCCTTCCCAGGGGGCCTCTTCCAGGGAGCCCACCCTGACTGCCCCCATCCTCAGCTCACCAATGCGGGCTACGGGCACTGCAGCCTGGAGGATGTGTACAGTGCTGTCCACAGCAGCCTGGACACTGGGGAACGCACACGTGGCGGCCACTGTGGCCTCAGGGGCAGGGTGCAGGCGCAGGGTGGTGGCTGTGATGAGGCCCAGCGTCCCCTCGGAGCCCACGAAGAGCCCCGTGAGGTTGTAGCCGGCTGCACTCTTCCTACGTCCCAGGGACACACAAGGTGAGTACCAGGCTGTGTGATGAGGGATTTCTGGCCAGAAGCCGAAGCTGGAACCCAAGACACCGACCCCAGGCACTGAGGTCTGGGCTGGCCTCCCTCGGGCCCAGTTTCCCTGGCCCAGTGCTTTCTGCTCCACAAAGCCAGTCGGCCTCAGGCAGGGAGAGCAAACCCTGGTCCCATCCACTTTGGCCCAGCTGACAGGGCTTCAGAGCCTGAGGAAGCCTAGCCTGCCAAACCAGGGGGCCGCCAGGAGGTGCTTTTCACAGCCCGGTCTCTGCAGGGCAGCCCGCCAGCAGTGCCCAGGGCCAGAGCCCGGGCCCCCCGCAGAGGGCGCTCACCGGAAATGCCGGCCTCGGCCCGCCGTGTGCAGCAGCCGCCCGTCGGGCAGCACCACCTCCAGGTTGAGCACGTTGTCCCGCATGGTGCCGTAGCGGACCGCGTTGGTCCCCGACGCCCCGGTGGCCGCCATGCCACAGAGAGAGGCGTCCGCGCCTGGGTCTGGAGGGCGGCGTACAGAAGGCAGCCTCAGGGACCGGAGGTCCTTTCCCTCGGGCTGGGGGAGGAAGGTCCCCTGAACCCCAGACACAGCCCTGCTCCCACGGTGCCCTCAGGGTCCCAGGAAAGGTTCGCGAGTCCTACCCACGGGAAACCAGAGGCCGCTGTCCCGCAGGTGGGCGTTGAGGGCTTTGCGGGTGACACCTGGCTCCACCACCACAGAGAAGTCCTCCTGGTTCAGCTCCAGGATTCGGTCCATATGCGTCAGGTTAACGCAGACGCCGCCCTGGTTGGGGCAGGTGCTAAGACCACTGCAGACCTGGGTCTCTGACCTGGCCACGTCCCCGGACCACACCCCGCGGGTGTCCCCCCAGCAGCCAGACCAGACCCCCAGAGGCAGGCAGCCCACGGGCGGGAGCAGACCCAAGGTGCCGTGTGTGGCGGGGGAGGCAGCCACAGGTGTGCCAAGGTGTGCTGGGACCATCCTCGGGCCGGGCGAGGGAGCCCCACTGTACCTGCACAGCACAGACGCCACCCTCAAGCCCGGTGCCGGTGCCGAATGGGATGATGGGCACACCTTGGCGATAGCACAGGGCTGCCAGCCGGCTGACCTGCTCCACGTTCTGGGGCCACACCACAGCATCAGGAGGTTCGCACCTAGAACCAGACCCTCAGCGATTTAGCGGGGCGTGACACCCTCTGGTCCCGAGGTGTTGCAGGGCCTGAGGCTACAGCAAGCGAGGGGCAGAGAACATGCCAGAGCACCCCAAAACAGATGAGTGAGGAGGAAGGCAACCCAGCACCCTCTCTCTCAGCTGGGGTTGAATCCAGAAGACAGGGGAGGGGCCCGCGAACCCTCCCATACCTGTGCACCGACTCATCGCGCCCGTGCTGCTCTCGGACCACCGCGGCAGTGGACACGTGGGAGCCGCCCACCACGGCCTTCA
ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACTTCCAGGTAGCTGTAGGTGGGTTTCAGGTTTATTACAGATTTATTGGGGGAGGCCCCAAGGAGAAGACCTATCATCATGTCACGGGAGCTCACGTTCCATACCAGGAAAGGAGTGTTCCTGTCACCAGGTGAAGGGGGAAGGGTCCTGGGACCCCGGCAGTGGGAGGCCTCGGGGAGGGGTGTCATCAGAGTCTTGAATGGACCCAGACGCTCTCTTCCCGCCAGGACAGGATGCGTAGGAGCAGAGAGGAAGCAGCTTTGCTGGGAACCACCCTGGGTCGTTTACTGAACCAAAGGCTCCTGGGGCCAGCCAGAGGGCCAGGGAGGTAACACGGTGCTCAGGCTTCTCTCTGGGCCCTCTGGCCTTGGGCCCAGATACAGTGGGCTCGCTGGCAGGAAGACTGCCTCAGCATCTATTTCCTTGCAGGGGCCGTGGCATGAAGAAAAGTTCCAGAACCGGCTCCGTAGTCAGGGAACTTGTGGGCTAAGTGCTCAGACCCCCTTCACAGCACTTTGCCTGGATTCATGAGGCCTTGGGGGTCTAGCACGGCCTTGAGCTGCCGCATGGTCTCCACGCCCACGGCGCCCACCTCCTCCTGCAGCAGCTGCCGCTTGCCCATTCCGATGCCATGCTCCCCCGTGCACGTTCCGTGGAGAGCCAGTGCCCGCCTGGGGGCAGGAAGGAGACATCCTCAGGGGGCTCCCTTTCCTCTGCCCTCAGCTCTTCCCCTCCCTGGCTTTGCTCCTACCTGCCCAGCTGTTCTGCAAAAGCCTTGACCCTGCCCAGTTCCTCGGCGTCATCAGGGTTGACCAGCAGGATGCAGTGGAAGTTGCCGTCACCCACATGCCCGACAATGCTTCCTGGGGGCCCAGAGGACAGAACTATTCTCCAGCCCAGTCCTCCTCTTGCCTCCTGCTGCCCCAGGCTCTGATCAGCCCTGACACCTCCCCACCTCTCCCCAGCAGCAGGGTGGGCAGAACCTGTGAGTCCTGAGGCATTCAGATCCTCCTTGGTCTGCACCACGATCTCCGGCAGCCGGGAGATGGGCACACACACATCCGTGGAGTAGCCCTGGTCAGAGGGAAGCCTATGAGTTACCCCTGCCTGATTGGGTGTACGGGGTCACCGTGGTCAAGGCTGAGGATGGGTCGGAGGGCACTGGGCTTCAGCTCTTGGCCTCACACAAGGAAATAATCCTGCTCTTCTCTAGGCCTCAGCCCTCACCTCCCCCCGACACAACACAGGAGACCAATGGCCCAGGTGTGCTTGCCACACCTCCCCTGTGGCTCCCACCCCCAAGCCCCAGGCTGCTGAGCCTTTGCATAGCTGCCTGGAGCCCAGACTTCCCTTCCCCAGGTTAGGCTAACATCCCCCTCTCTATCATCTCTTCCTCCAGGAAGCCTTCCTTCCATGTACAGCTCCCAAGAGCACCGCACCGTTCCCATGACCTGGCTCACAGGAAGGGCTTTTGAGGGCTTAGCAGACAACTGTGCTTTCCCTGTAGACGGTATCTGAACAGCTGGGTGGGGCGGTCTGCAGCCCTTGTTTCTAGCGCCTGCTCAGCCAGGCCCAGCCCCGTTGTTGAGGCTCAGCCTGCTGCTCTGTGCAGTAGAGTGGTGGGTTGAGGAAAGGGTTTGTGGGCCGAGCTGTGGGCCCCATCTGTACCCCAGCCCCAGCTCACCTTGCAGCCTGGCCGCGTGGCCAGGGCTGCGTACCAGGCATTGTGCCATGCTGTCCAAAGCCGGCTGCGCTCCTCGGCCTCCTTGGCCCAGGAGAAGTCAGAGGCTCCGTTCTGCTGGACTATCTCCTCTGCAGTTGGGGAAGGGGGGCTGACACCGGGCCGCCACTGAGGCAGCCCACCCTGCTGCCCCACTCCACCCCAGCATACCTGTGCGCTGCAGCTGCTCCTCCAGTGCCTGCTGGGAGCCATGGAACTCCAGGAAGAGTGTGGGCGCCACTAAGCAATTCAGCTTGCTGTACCTGTTGCAGGCATCCATCATGACTTCATCCAGGAACTCTGGATCCAGGGAGATGGCAGGCCAGGTGAGGCCTGGCCTTCCCAGGGGGCCTCTTCCAGGGAGCCCACCCTGACTGCCCCCATCCTCAGCTCACCAATGCGGGCTACGGGCACTGCAGCCTGGAGGATGTGTACAGTGCTGTCCACAGCAGCCTGGACACTGGGGAACGCACACGTGGCGGCCACTGTGGCCTCAGGGGCAGGGTGCAGGCGCAGGGTGGTGGCTGTGATGAGGCCCAGCGTCCCCTCGGAGCCCACGAAGAGCCCCGTGAGGTTGTAGCCGGCTGCACTCTTCCTACGTCCCAGGGACACACAAGGTGAGTACCAGGCTGTGTGATGAGGGATTTCTGGCCAGAAGCCGAAGCTGGAACCCAAGACACCGACCCCAGGCACTGAGGTCTGGGCTGGCCTCCCTCGGGCCCAGTTTCCCTGGCCCAGTGCTTTCTGCTCCACAAAGCCAGTCGGCCTCAGGCAGGGAGAGCAAACCCTGGTCCCATCCACTTTGGCCCAGCTGACAGGGCTTCAGAGCCTGAGGAAGCCTAGCCTGCCAAACCAGGGGGCCGCCAGGAGGTGCTTTTCACAGCCCGGTCTCTGCAGGGCAGCCCGCCAGCAGTGCCCAGGGCCAGAGCCCGGGCCCCCCGCAGAGGGCGCTCACCGGAAATGCCGGCCTCGGCCCGCCGTGTGCAGCAGCCGCCCGTCGGGCAGCACCACCTCCAGGTTGAGCACGTTGTCCCGCATGGTGCCGTAGCGGACCGCGTTGGTCCCCGACGCCCCGGTGGCCGCCATGCCACAGAGAGAGGCGTCCGCGCCTGGGTCTGGAGGGCGGCGTACAGAAGGCAGCCTCAGGGACCGGAGGTCCTTTCCCTCGGGCTGGGGGAGGAAGGTCCCCTGAACCCCAGACACAGCCCTGCTCCCACGGTGCCCTCAGGGTCCCAGGAAAGGTTCGCGAGTCCTACCCACGGGAAACCAGAGGCCGCTGTCCCGCAGGTGGGCGTTGAGGGCTTTGCGGGTGACACCTGGCTCCACCACCACAGAGAAGTCCTCCTGGTTCAGCTCCAGGATTCGGTCCATATGCGTCAGGTTAACGCAGACGCCGCCCTGGTTGGGGCAGGTGCTAAGACCACTGCAGACCTGGGTCTCTGACCTGGCCACGTCCCCGGACCACACCCCGCGGGTGTCCCCCCAGCAGCCAGACCAGACCCCCAGAGGCAGGCAGCCCACGGGCGGGAGCAGACCCAAGGTGCCGTGTGTGGCGGGGGAGGCAGCCACAGGTGTGCCAAGGTGTGCTGGGACCATCCTCGGGCCGGGCGAGGGAGCCCCACTGTACCTGCACAGCACAGACGCCACCCTCAAGCCCGGTGCCGGTGCCGAATGGGATGATGGGCACACCTTGGCGATAGCACAGGGCTGCCAGCCGGCTGACCTGCTCCACGTTCTGGGGCCACACCACAGCATCAGGAGGTTCGCACCTAGAACCAGACCCTCAGCGATTTAGCGGGGCGTGACACCCTCTGGTCCCGAGGTGTTGCAGGGCCTGAGGCTACAGCAAGCGAGGGGCAGAGAACATGCCAGAGCACCCCAAAACAGATGAGTGAGGAGGAAGGCAACCCAGCACCCTCTCTCTCAGCTGGGGTTGAATCCAGAAGACAGGGGAGGGGCCCGCGAACCCTCCCATACCTGTGCACCGACTCATCGCGCCCGTGCTGCTCTCGGACCACCGCGGCAGTGGACACGTGGGAGCCGCCCACCACGGCCTTCA
Task1_train_22905
The gene CHST6 (carbohydrate sulfotransferase 6), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Macular corneal dystrophy
GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGA
GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCGGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGA
Task1_train_22906
This alteration in CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Macular corneal dystrophy
ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGAC
ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGTTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGAC
Task1_train_22907
This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Macular corneal dystrophy
GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAA
GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCCGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAA
Task1_train_22908
The variant affects gene CHST6 (carbohydrate sulfotransferase 6), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Macular corneal dystrophy
CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAG
CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCCTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAG
Task1_train_22909
Mutation context: Chromosome 16, Gene CHST6 (carbohydrate sulfotransferase 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Macular corneal dystrophy
GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAG
GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGACAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAG
Task1_train_22910
This variant affects the gene CHST6 (carbohydrate sulfotransferase 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Macular corneal dystrophy
CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGG
CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCCCAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGG
Task1_train_22911
This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Macular corneal dystrophy, type II
CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAA
CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCTCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAA
Task1_train_22912
A variant was discovered in gene CHST6 (carbohydrate sulfotransferase 6), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Macular corneal dystrophy
TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACATGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAAACAAAAAAATGAGCCAATAAATAAAGTGGACAAAGAACACCAATTGTTGCCATCACCGGTAGGGGGTGAAGTGCTGAAGGCAGCATGGGCTCCAGAGGGAGGATGTCCTGGAGCCCTGTGGGTTTGCAAGGAGACCAGCTGAGGCGGAGCTGGGATGGAGCCAGAGAAGCAGAGAGGTGAGAGCAGAGGACTGTCCCGGCCAGCTGAGGGGACTCACCACTGTCCAGGGCTGCTGGGAGAGCTGCAACGCTGATCACAAATCCATGGGAGATGATT
TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCTCTCCTATCCACTGGAGACCCAGAGCAAAAGCTCTCTCCTCCCTTCATCCTCCTTCTCACCATGTGATTTCAGACAAGTCCTTTCACTTCCGAGTTTTGCCATGTGTGCCTGTGTGCATATGTATGTGATGTACAGACCTCTGGAGCCATTTCACCACAGTGCCTCTCCACTCCCAGCCAGTGCCAGGGCACCCCCTCAGCTGCTGCAGGATGTGTCACCAGAAGGAGAGAGTTAAAGGGGAAGAAAGCCCTTGAGTAGGAGCCAAGTCATCTGAACGCACACCCTGTGCCCAGAGGAGGAGGGGCAAGAGTTGCTTTCCATGAAGAGTGCACCTGATGAGAAGGCAGCTCCAGAGGACTCAAAGGAAAACCAAGAATCAAGAGAGAAAGAAACGTGCAGTCCTTGCCTACTTGGGGAGGGGGAGGGGTCGTACCACAAACTCCTTGGTCAATATAGGGACCTGCTTCTCCGTGCGCCCCAGCCCCCTCTGCACCATGCACTCTCCTCCCGGGCCTAGCGCCTGCTACAACTGTGGCCTCCACTAATTTCGGGGGTGCGAGGCGGTGGATGATGCCCAAGTGAAGCCGTTCAGGCCTCGTGGCAGCACCAGATCAAGGGCGAGGTTGCGCTGCTCGTCCTCAGAGTACACAGGCCGGTAGCCCAGCAGCTGCAGCGCACCAGCGCACAGTTCCTGCACGCGGCGGATCTTGGCAAAGGGCAGCGCATGGCGCCAGGCCTGGGAGACGTTGAGCGCATTCCTGGACGAAGTCTTGAAGGCTTCGCGGCGCGCACCAGGTCCAGATCCGTGGGTGATGTTATGGATCCAGGCCTCGAGCTGTGGCGTGAGACTGAGCCCAGTGAAGGCGTAGAGCGCACGGATTTCTGCCAGCGGCTCCCGCGCCAGGTCCTCGAAGCGCACCAGGCGGTAGCGGCCGCGCAGAAAGGGTGGCGGCTTGAGTGTGGCGGCCTCGGCGATGCGTACGTGGCTACGGCACACCTCGCGCACCACGCGCAGGCCGGGGTCGGCCTCCACCCACGTGCCGTTGGTGCCCAGCACGATGCCGTTGTCACGCGCCAGAGCCTTGGCTGTCTGCTCCCGGGAGCGCAGCACGGCCCGCGGGTCGCGCACCAGGTGCACGATGCGTAGGTTGAGCGCGGGGTCGCTGAGCAGCGGGTAGAGCACCTGCAGGTTGAAGAAGCGCACCTCCTTGAGCACCACGTGGCTGTAGGAGCGGCAGGCCTCCCGGGCCAGGGTGAAGGACTGCCGCGCGCACAGTGGCTTGCACACGGCCTCGCTGCTGATGGCGCCTCGGGGAAAGGCACTGCAGGCGGGTGGCGAGCACAGTGCACGGCTCACGGCCCACTGGAAGAGGTCGGACAGGTTGCGGCGCCAAGGCAGATAGGCATCAAACACGTCCATGTCGCACAGGAAGACGGAGCGCACCAGGTCGCGCACAGCCATGTGCAGCGTTGCGGCGCTGCCCTGCGACAGGGTGGTCCACACGTGCCACGCGGGCTCCATTAGGTAGAAGACGTCGGGGTGCTGGTTGAAGAGTTGGCCCACGAAGGACGAGCCCGAGCGCCACGAGGACAGCACCAGCACATGCACGCGCGCCTCGCCGCCTGCTGGGGACGAGGGCCCTGGCCGGGAAACCAGAAAGAGGAGGAGGAAGGTCTGCGCCAGGAGGAGCGCGGTCACTGCTGTGCTGGAGACGCGCGGCAGCCACAAGCTGACTGCTGGGGGCCTTAGGGAGGAGAGCGCAGCGGTTAGGGGCTGCAGCCTGCACGCCCATCCCGTACCCCACTGCCCAGTGCCCGCAGGGGGCAGATTCTACCACCAGACCCGAGCATCCCATGAACATGATGGTCTCAGTGGGGAGCTCTCCCGGAAATGTGGCCTTAAGACATAACTCAGGATCCAGTCTAGCTGAGAGCAAAAGTACAAATGCAGAATGCGGTCGGAAATCTGTCTACATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAATGTGAGTCCTACCTTCTTAGTTCTACCTACCCACATTACCATTGTCTATTTGGAGAGGGAAATATATTTCAAACGGAATTCCTGTCTTTTGCTTAAGAATTCCTGTAAGGAAACTCTTTTAGGTTGTTGAACTGATGGGCGCTCTGGTGGATGTCACAGCACGGCCAGGCTCCCTGAGGCTCTTCCACTCCGTAGCCTGTGGTCTTTTTCCTTTTTTAATCTCCCACACTACACTGACATACATAGCCTGTGATCTTGAACAAAATATTGGATCGCCCCGTGACTCAGTTTACCCATCTGCAAAAGGGAGATGATACCAGCACATAATACAGGATTTAAGTGGATTATTGGAAAATGGGAACATGTTTGAATATCCTGGATGGACAGGAGAGACATGTAGTAATGTCCCTAACTGAAGAGTGCCCTTGCTACAGCGTGTGCTTCTGCAGTGTATGATTTTTTTTTTTTTAAATAGACAGGTATAACTTTTCTTATGGAAAATAACTTTTCTTATTGAAAATAAGCAAATAGGCGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGAAGTTCAAGACCAGCTTGGTCAACATGGTGAAACATCATGTCTACTAAGTATACAAAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAATCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTAGTGAGACGAGATCGCGCCATTGCACTCCAGCCTGGGCAAGAGCAAAACTTCATTCCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGCAAATAGGCAGGATGCGAGCCTGGGATTCAAGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATACCTTGAGGCGAAAAGTTTGAGACCAGCCTGGGCAACATATGGATAGCCTGCCTGTCTCTACAAAAACATTAAAAAAAACAAAAAAAGGAAAGCCAGGTGTGGTGGAGTGCGCCTGTGGTCCCTGCTATTCGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTTTGATCATGCCACTGCACTCCAGCTTGGGCGATAGAGTGAGACTCTGACTCAAAACATACAGTACAATATCAAAATGAGCAAATAAGTCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCAATTTGGGAGGTTGAGGTGGGCAGATCACCTGAAGTCAGGAGTTCGACACCAACCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGTCTGTAGTCTCAGCTAGTTGGTAGGCTGAGACGTGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTTTCTCAAAAACAAAAAAATGAGCCAATAAATAAAGTGGACAAAGAACACCAATTGTTGCCATCACCGGTAGGGGGTGAAGTGCTGAAGGCAGCATGGGCTCCAGAGGGAGGATGTCCTGGAGCCCTGTGGGTTTGCAAGGAGACCAGCTGAGGCGGAGCTGGGATGGAGCCAGAGAAGCAGAGAGGTGAGAGCAGAGGACTGTCCCGGCCAGCTGAGGGGACTCACCACTGTCCAGGGCTGCTGGGAGAGCTGCAACGCTGATCACAAATCCATGGGAGATGATT
Task1_train_22913
Consider this mutation in TMEM231 (transmembrane protein 231) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Joubert syndrome and related disorders
CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTTATACGTATCTTGTCATCTTTCCATATCTCATTGCCTTATGTGAATTTAAACAAGAAACTATTTTTCGTTTAGATCTTAAGAAAAAAATTTAGGCATATAAAACAGCCTGAATATTAAAAAAAGACAAGGGGGTCAGTGTTAGGGAATTCCTCTGCTTGAATACTTCAAAATAGCTTTGTTTCCAAAACTGTTTTAGTAAGCCTAAAGGAGCACTAAAAACGACAACTGATCTCCAAAGTAAACTGAGGCACACACTGAGGGGTGTGTTTCTGGGTGGGCATGAAGCATGGATCACCGGGGCCATGTCCTTCCAGTGGCAATGACCTGCTTGGGATCAGGAAGCAGCTCCATGTGTTCTTGGAGGAGACTGCCCACATCCTCAGGAGGTGAATGGGCTGAACAAGCCATCTTCCGTGTGCAGAGGCCCCTTCCAGCCATCTCTGCTCCTGCAGACACTTGCTTAGCCACGAGGGTAATCCACTGGACTGCTTGGTATTCTGCTAGTGGCCAGGCTGGACTGGCCTGCCCAGGCCAGCATCCTCTTTACACTCTTACTGCTTCTTGTGTCCTTCCCAAAGCTGCCCGCCCCACTCTGATGGGCACCCTGTTCCTTAGTCAAGGGAAACGCCAGCCGCTGGGCTTCCCGCTAGCCTTCCAAATAAACTTGTGGTTGTCAGGCAGCGGGAGCCAATCCCAACACCAACCCCTGTCGCCCCTGTCCTTTGCAGGAAGGGGGAGGGCTGTCAAGGAGGAGGAGGGCCAAGTGCCCAGGCTGTTGGGTGAGGGCCAGAAAGAACCTGTTGTGACAATGCTTTCTTCCCCCAGTGCTGCTGAGGGGGCTGAGAATGAAACAGCCCCTCTGACTTCAGCCTGCCATCCAGGGGCACAGACAGAGGGAAAAATAGGGCAAAGAGCCCAGTCACAGTACGGCAAAGATCCAGGGCTGCTCAGCTGAGCTGATGACAGATGACTGACTGTTGGGCTGGGGCAGGTGGACGGTCCAAGTGTCCTTCAGCGGCCCTCCCTGATTGCCTGTGCTAATGCGGCCCTTGCCCTTGGGCCCTGCCCCTCCAGGTCTCCAGTTAAAGGCCTCAGCTCTGGAAATCAAAGCTGTGAATGGGAAATGGAGAAGCCCAGGGGTGCAAAGTGCTAGTGATTGGCATGTTTGTCACAAGAGAGCCCTGAAAAGAGTAAGAGTGGCTCACAACAGAAGGTAGAAATGCACAGTGTGTTCCTCAGTTCAACAGAGGAAAAGTCTCTGCTTGACCAGAGATGGGACTCTTTCCAAGATGTCTGAACTGACTGCAATTTTCTCCTGAAATTCAACGCTAAGGCAAAGAAGGAAAACCCAAAAAGCTAATTATAGCCTCCAGGAACTCTCAGACCTTTCCACAAACTAGTCCCTGACAATTCTGCAGGAGCTCTGAAGATACGGAACTGTGTAGAGCAAAACCGGAAAGAACCGTTGTCTCTGAGGGAAAAGCACACAAGCCCGCAGGTGTCCGCTGGGCTCTTTCAAAAGGTCCTAAGATGTTCCCAGAAGATGACAATGAGGCAGCCACGGTCCTGCTGAGTCTTCAGAAATGGCCTTTCTAGGATAAGTGCTCCTTACACAAGTCTCCCCGGGGCGTCACTGTCACAGGAATGGTGGTCACCACCTGATTCTGAAACACGAAGATCTTGATTCTTTCAAACACCCAGAGGAAGATAAGCAGGATGCTGACATACTGCACCCAGGCGAACTTTACCATCTCCCAGAATCCTGGCTGATAAGTATGGACAGTTAAGGAGTGAAGGGCCACATGGTGTTAAGTATGAAGAGAAAATCCAAGATGGAATTGGCTGTGGCAGAGGTATCTCGAAAGGAGGCAGGACCTCTGTCATGTACACACCCAGATGGAAGCTGACCTGAACTTGGCCAAATGGTAAAACCAGCCACATTTGATTTGAGCTATTTATATACCAAGCCTGATGACCAACCTCCTAAACAGACAACTATGCCAAACTAGATTGATCATGGACTAGAGATATCCTGAGCTGTTAACCAGCCATCCATCCATCTTCTAAAATCTTCCAGTTGTGTAAACTTGGAACACCCTTAGCCCCTGCCTAATTGCACCTGTACGGAACACAATTTAGCTGCTTCCTAGGTTTGTGTCTCTGGAATTGTAATTCCTAAGACCCCAGTTAAAATGCCTTCTCTTTTGTTTGCTTCTCTGCAGTGTTGGTGTTGGTTTCATTTTCCATTAGTCGACCTAAGTCAAAATTAAACCAAAGTTTAGGTCAGACAGGGACTGGCAAGAATGTTTCACATAACCTTAGCATAAAAGGGATATCATATGATTATTAAGACATAAATATGGATGATTCTTACCTAGAAGAATTGCTTGGAAACAAATAGGACCAAGACATGAATTATTTGTTCCTATATGAATAGCAGACATACAGTCATTTTCTGAGACATGTAGCCTAAGATGTCAAAGACGCAGCCATTTTTATGAGGCTATAACCCTGTCATGATTTCCAAGAGAAAACCTCCCACGTCTGTTACTACTTGAGACAACTAAGGAATCATTCCTCTTTGAAAACTGAGCTACCATTGATTTTTTTTAAATTGTTGTTTGCTTTAAGAGGCAGGGTCTCACTCTGTCACCGAGGCTGGAGTACAGTGGCACAATCATCGCTCACTGCAAGCTTGAATTCCTGGACTCAAGCAATCCTCCTGCCTCGGCATCCCAAGTAACTGGGACTACACATGTACGCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGACTCACTATCTTGGCCAGGCTGGTTGTGAACTCCTGGGTTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGAAATTATAGGCAGGAGCCACCACATCCAGCCTTAACATGGACTCTTTAACAGAAAGGATATGAAATGACTTCCACAGGGTATCGGATGATAGCATTAATCACAAATGGAGCATCTGCGGCCCTGCCCACCAGCCAGATGGGGTTGGGATCATTCAGGACGGTGGTAACTGCAATGCAATCATTAACCATTAACCACGATGGCTGTTTGACTCTGGCAGTTGAAGGCTATAAAGATTATTTGATACCTGGAAATTATCCTGTGCTTCAGAACTGAAAGAAATCATTCGGAAGGAAAGAGAAATTGCATGTGCAAAGCTGATCACACATTATTTGTTAAAATAATAGTCAAAATACTTTTGTTAAAATACATAAAAAACTTGGAAAGAGTTTCTTCTACATGTGCTGAATGGCTAACTGAAGGAATACTATACTGCCACTAAAAGTAGTATCACAGCTTTGTAGCTGTGTGGGGAAGTATTTATATTCCAAGTTTAAATAAATAAAAGTAACTTGGATCCCAATGTGTTTCTACACTACAATGGCTGTATAAAAAGATCTGCAGAAGGCTAAAGAATGAAAGGAATGAAAAAATAGTTGATTTGTAGGGCAATGTTTTCTACTTTTGTTTTAAAATTCCCTCTATTATTGCAATAATGCCACTAGTATATGCCATAAAATCAGTAAGCAATACTGGATTTGCAGTCATCCCCCTTGTGAGACGTCTGTGTATAGTCTCCATGATGTCTGCTTGCCAAGTAACACTGTAGATGCTTTTAGAGAAAACCTCAGCCACCGACCAGACAAACGTGCCGAGTCCACACATGCCATGGCCTAGAGCTCTGTAAGGAATAAGCACACTGTGCCTTCTGGCAGGAAACAGGGGCACTCC
CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTTATACGTATCTTGTCATCTTTCCATATCTCATTGCCTTATGTGAATTTAAACAAGAAACTATTTTTCGTTTAGATCTTAAGAAAAAAATTTAGGCATATAAAACAGCCTGAATATTAAAAAAAGACAAGGGGGTCAGTGTTAGGGAATTCCTCTGCTTGAATACTTCAAAATAGCTTTGTTTCCAAAACTGTTTTAGTAAGCCTAAAGGAGCACTAAAAACGACAACTGATCTCCAAAGTAAACTGAGGCACACACTGAGGGGTGTGTTTCTGGGTGGGCATGAAGCATGGATCACCGGGGCCATGTCCTTCCAGTGGCAATGACCTGCTTGGGATCAGGAAGCAGCTCCATGTGTTCTTGGAGGAGACTGCCCACATCCTCAGGAGGTGAATGGGCTGAACAAGCCATCTTCCGTGTGCAGAGGCCCCTTCCAGCCATCTCTGCTCCTGCAGACACTTGCTTAGCCACGAGGGTAATCCACTGGACTGCTTGGTATTCTGCTAGTGGCCAGGCTGGACTGGCCTGCCCAGGCCAGCATCCTCTTTACACTCTTACTGCTTCTTGTGTCCTTCCCAAAGCTGCCCGCCCCACTCTGATGGGCACCCTGTTCCTTAGTCAAGGGAAACGCCAGCCGCTGGGCTTCCCGCTAGCCTTCCAAATAAACTTGTGGTTGTCAGGCAGCGGGAGCCAATCCCAACACCAACCCCTGTCGCCCCTGTCCTTTGCAGGAAGGGGGAGGGCTGTCAAGGAGGAGGAGGGCCAAGTGCCCAGGCTGTTGGGTGAGGGCCAGAAAGAACCTGTTGTGACAATGCTTTCTTCCCCCAGTGCTGCTGAGGGGGCTGAGAATGAAACAGCCCCTCTGACTTCAGCCTGCCATCCAGGGGCACAGACAGAGGGAAAAATAGGGCAAAGAGCCCAGTCACAGTACGGCAAAGATCCAGGGCTGCTCAGCTGAGCTGATGACAGATGACTGACTGTTGGGCTGGGGCAGGTGGACGGTCCAAGTGTCCTTCAGCGGCCCTCCCTGATTGCCTGTGCTAATGCGGCCCTTGCCCTTGGGCCCTGCCCCTCCAGGTCTCCAGTTAAAGGCCTCAGCTCTGGAAATCAAAGCTGTGAATGGGAAATGGAGAAGCCCAGGGGTGCAAAGTGCTAGTGATTGGCATGTTTGTCACAAGAGAGCCCTGAAAAGAGTAAGAGTGGCTCACAACAGAAGGTAGAAATGCACAGTGTGTTCCTCAGTTCAACAGAGGAAAAGTCTCTGCTTGACCAGAGATGGGACTCTTTCCAAGATGTCTGAACTGACTGCAATTTTCTCCTGAAATTCAACGCTAAGGCAAAGAAGGAAAACCCAAAAAGCTAATTATAGCCTCCAGGAACTCTCAGACCTTTCCACAAACTAGTCCCTGACAATTCTGCAGGAGCTCTGAAGATACGGAACTGTGTAGAGCAAAACCGGAAAGAACCGTTGTCTCTGAGGGAAAAGCACACAAGCCCGCAGGTGTCCGCTGGGCTCTTTCAAAAGGTCCTAAGATGTTCCCAGAAGATGACAATGAGGCAGCCACGGTCCTGCTGAGTCTTCAGAAATGGCCTTTCTAGGATAAGTGCTCCTTACACAAGTCTCCCCGGGGCGTCACTGTCACAGGAATGGTGGTCACCACCTGATTCTGAAACACGAAGATCTTGATTCTTTCAAACACCCAGAGGAAGATAAGCAGGATGCTGACATACGGCACCCAGGCGAACTTTACCATCTCCCAGAATCCTGGCTGATAAGTATGGACAGTTAAGGAGTGAAGGGCCACATGGTGTTAAGTATGAAGAGAAAATCCAAGATGGAATTGGCTGTGGCAGAGGTATCTCGAAAGGAGGCAGGACCTCTGTCATGTACACACCCAGATGGAAGCTGACCTGAACTTGGCCAAATGGTAAAACCAGCCACATTTGATTTGAGCTATTTATATACCAAGCCTGATGACCAACCTCCTAAACAGACAACTATGCCAAACTAGATTGATCATGGACTAGAGATATCCTGAGCTGTTAACCAGCCATCCATCCATCTTCTAAAATCTTCCAGTTGTGTAAACTTGGAACACCCTTAGCCCCTGCCTAATTGCACCTGTACGGAACACAATTTAGCTGCTTCCTAGGTTTGTGTCTCTGGAATTGTAATTCCTAAGACCCCAGTTAAAATGCCTTCTCTTTTGTTTGCTTCTCTGCAGTGTTGGTGTTGGTTTCATTTTCCATTAGTCGACCTAAGTCAAAATTAAACCAAAGTTTAGGTCAGACAGGGACTGGCAAGAATGTTTCACATAACCTTAGCATAAAAGGGATATCATATGATTATTAAGACATAAATATGGATGATTCTTACCTAGAAGAATTGCTTGGAAACAAATAGGACCAAGACATGAATTATTTGTTCCTATATGAATAGCAGACATACAGTCATTTTCTGAGACATGTAGCCTAAGATGTCAAAGACGCAGCCATTTTTATGAGGCTATAACCCTGTCATGATTTCCAAGAGAAAACCTCCCACGTCTGTTACTACTTGAGACAACTAAGGAATCATTCCTCTTTGAAAACTGAGCTACCATTGATTTTTTTTAAATTGTTGTTTGCTTTAAGAGGCAGGGTCTCACTCTGTCACCGAGGCTGGAGTACAGTGGCACAATCATCGCTCACTGCAAGCTTGAATTCCTGGACTCAAGCAATCCTCCTGCCTCGGCATCCCAAGTAACTGGGACTACACATGTACGCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGACTCACTATCTTGGCCAGGCTGGTTGTGAACTCCTGGGTTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGAAATTATAGGCAGGAGCCACCACATCCAGCCTTAACATGGACTCTTTAACAGAAAGGATATGAAATGACTTCCACAGGGTATCGGATGATAGCATTAATCACAAATGGAGCATCTGCGGCCCTGCCCACCAGCCAGATGGGGTTGGGATCATTCAGGACGGTGGTAACTGCAATGCAATCATTAACCATTAACCACGATGGCTGTTTGACTCTGGCAGTTGAAGGCTATAAAGATTATTTGATACCTGGAAATTATCCTGTGCTTCAGAACTGAAAGAAATCATTCGGAAGGAAAGAGAAATTGCATGTGCAAAGCTGATCACACATTATTTGTTAAAATAATAGTCAAAATACTTTTGTTAAAATACATAAAAAACTTGGAAAGAGTTTCTTCTACATGTGCTGAATGGCTAACTGAAGGAATACTATACTGCCACTAAAAGTAGTATCACAGCTTTGTAGCTGTGTGGGGAAGTATTTATATTCCAAGTTTAAATAAATAAAAGTAACTTGGATCCCAATGTGTTTCTACACTACAATGGCTGTATAAAAAGATCTGCAGAAGGCTAAAGAATGAAAGGAATGAAAAAATAGTTGATTTGTAGGGCAATGTTTTCTACTTTTGTTTTAAAATTCCCTCTATTATTGCAATAATGCCACTAGTATATGCCATAAAATCAGTAAGCAATACTGGATTTGCAGTCATCCCCCTTGTGAGACGTCTGTGTATAGTCTCCATGATGTCTGCTTGCCAAGTAACACTGTAGATGCTTTTAGAGAAAACCTCAGCCACCGACCAGACAAACGTGCCGAGTCCACACATGCCATGGCCTAGAGCTCTGTAAGGAATAAGCACACTGTGCCTTCTGGCAGGAAACAGGGGCACTCC
Task1_train_22914
Gene TMEM231 (transmembrane protein 231) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Ciliopathy
CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCA
CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTACCATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCA
Task1_train_22915
The gene TMEM231 (transmembrane protein 231) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Meckel syndrome, type 11
TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTCTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCAGGAGACAACTGCCAGAAGAATCCAGACTCCAACACA
TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGACAGCAAATAAACACACAAACACATATCCTGAGTAGGCCAGGCGGCAGGAGGGAGAGTCTGGCTGAGGAATGGTGGAAGGAGGGGCTGCTACTGTAGAAGCAGGTCAGAGAAGGACTGGGCTTGGGGATATCTGAACAGGGACCTGAATGGCATGGTCCGATAAGCCACATGGATGCCTGGCAGAGGAAATGGCAAAAGCAAAAGCCCTGAGGTGGCAGCTGCTTCTTGGGTTTGAGGAACAGCAAAAAGGCCAGGGGGGCTGGAAGGGAGCAAGCGGGGGCAGTGATGGGACAAGTGGCTGGAGTGCGGGGAAAGGACAATGCAGGCAGCTCAGAGGTTGCCATGATGATTAAAGGAGATGATATAGGTAAACGCCTGCACTCAGGGGTGGCATATGTTATGAGTTCAGTAAACTATGGCTAGTAATATTTCTGAAATACTTTACATGAACATTTTACATCATCATTTTACAGTGTCCTTCGGAGTACATCCTGCGTGTGACCAAGCGTGTGTATGGAAGACACAATGTGTGTGTGTGCACCCACGTGGACCTAAAAGCAATAAGCAATTTAGTTCTTCGACAAACACAGATTTTGTTTCTCTTCCCTTCTAGGTGTAACTATGCGTGTACCTTCTCTGTAGTTTGAAAAAATTCATGGCAAGAATTCTACAGAGACCCTCTTTGGTGCCACCCACAAAGAAATGATATTTCTACTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTAGGATTACAGGCACGCACCACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGACTGGTTTCAAACTCCGGACCTCAAGTGATCCATCCGCACATCTCCGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGCCTGGCCTGACATTTCTACTTTTCATTCCCCTCTTTAAAGAACTTAATGAACAGTAACACAGAGAAACAAAGGAGCTGGACAATGAGAAGCGCTCTTACGTTGTATCGGGCATCTAGGCCACCACAGCTCAGCGGCTGCTTCTGCTGCAGCCTCAGGTCTCCGTTCACGTATAACTGGGATCCCGGGACAGGAAAGGAGGACTGGAGAAACGCCATGCTCTGCATCACGAGGGTCGCCATCCTCTGAAATCATTAGAAGGACCAACAATACCAACCGCCATCAGATCTGAAGGGCTCTGGGTGCTAAGAGTCACCTGTCTTGGCTGAAACCTAAGAGGCCCTCACATACCTAGCGTAGCCATGCAGGAAACACTGCCTAGAACCTTCTGAGCTATTAATAGCCCATGTCAGTTAATATGACTAGTGAAAACCATTCCATTGGCCTAAGTTAAATCCCAAACTACATGGGGAAGAGGGCCCGCTAGAGTGCGGGTCTTCTAGAAATCAGAAGAAGGACTCTGGTCTACTAAAAAGACACAAGGGAGAGGACAGCCTCCCAGCGGACTGACTCACGTGTAATCGATAGGAGAAAGTCAGGATGAGCTGCACACCGAGAACGTGCTCCGTGGACTGCAGGGGAAGCTCCAGCTTAAAATGTAACATGTCCGTCTTCCCATCCTGGTTCCTGTCTTCTTTTCTAGTCTAGGAAACCCAAACAGGCCCAGCAGCCCTGGTCACTAATGAGTCTGGGAGGAATCCACATCACTTCTGTAAATACACAATGACCCACTGTCTTGCTGTACACAACAGGCATTATCTCCTCCACTAAAAGAGAAAAGCAGATAGATGTAAGTGCATTAATACTGGGGAGAGACACAAAGTGCATGGTCCCTGAACTTCATATCTGGGCCTTTCAAATGTTCACTGGCCAAAATAAATGGGCAATAACAAAAAACATCTGGATAGTATTTGTGCCTTTCAGTTGTCTCATGTGATCTTGCTTATTTTGCACTGATATTTTTTTCTTTTTTACAAATATGCCTGAATTTGTATGGAAATTTTAAGTAGCATGTCAGAATAGTCTTCTATGTCTCTAGAAGTCAACTTGTTAAAATAGAAAAACACCTAATCCTAATCATTATGCATTCCTCCAACAAACTCAAACTCAACAGAAAATCACCAAGCTCTATTTTTTTTTGTTTTTTTTTGAGCCGGGGTCTAACTCTATCGCCCAGGCTGGAGTGCAGTGACGCAATCACGGCTCACTACAACCTCCGCCTCCCAGGGTCAAGGAATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGGATTACAAGTGCCCACCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCGGGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACCGCACCCGGCCTTACCAAACTCTGTTTATAGATTCTGAAACCACGAGTGTCTTTGCTTCAGATTCTTGATGTTGGATCTTATCTCATCATTCGTGTGAGGACCTGAAAGCCTTGTGCATCTTTTAGTAGCAATCAATGAAATGAAAAAGGAAGCTATGTCAAATCAGCAAAGTATTAAAACCATATCTATTTGATAAATTACGGGCATGAAAGGAAAGAAGACAGAGGTCTGTAGAGGAAAAAAGACAAAATACAGCTTATGAAGCATATGTAGGCAGTGAAAAAAAACTGGTATCCACTCCTACCATCCACAGTCTTGCCAAACAGTGATGCTAAAATGATGATCAGGAAAGCACGGTTACTGAAAAGTGATCACTGCTGACATGGTCCCTCTGCACAACTCTGGATCTTTTTGCTACAACTGATCCTTTCCCACTGTGGATTCCCAGAACAATTCTACTATCGTGTAGCAGCATTCCCATCTGGATCCACCATCTATGGATTCATTTTGATTCCCACCATTACTATTACGTAAGGAAGAGATTTTTTGTGTGTGTGCTTTTTCAGGCTAATAATAAGGTCATTTGAAATGAAGAAATCTCAATTTTCAGAAACTTTCAATTATTTCTTTCTTTCTAGACAATAATGTTCCTTCTCTTAGGTCTTGTTTTAGAGAAACCTCCCTCCCTTTTCTCTTGGATACTTCCTCTCTGCCCTGTTTCATCAGCTTCGGGGAGGGATATCTGCTACCAGGGCTGATGATCAAGTTACTGAGGCAATGATGGACTAGTCATTATAGGTAGGATGAAAAGAGCCTGCCTTGCGGATCATGAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAATAAAATAAAAAATAAATAAAAGAGCCTGCCTTGTCTCCTGTGGATTTTCTTCAATTGGGATCTGGGTAGAAAATCTTATGTAACTCTCTGTGATGGATCCACACCTTCTAGATCTTTAGGGTTGGACAGGAAGAAAAGAGCACATTTCTCAACTTGCAACAGAGGATAGTGGCCAGGAGACAACTGCCAGAAGAATCCAGACTCCAACACA
Task1_train_22916
The gene TMEM231 (transmembrane protein 231) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Meckel syndrome, type 11
ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGTCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
Task1_train_22917
The gene TMEM231 (transmembrane protein 231), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Joubert syndrome 20
ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGTCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGT
Task1_train_22918
This variant lies on Chromosome 16 and affects the gene TMEM231 (transmembrane protein 231). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Joubert syndrome 20
TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGTCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
Task1_train_22919
This sequence variant lies in TMEM231 (transmembrane protein 231) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Meckel syndrome, type 11
TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGCCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGTTGCAGTGAGCAGAGAATTGCAGCACTGCACTCCAGCCTGGGCAACAGAACAAGACTGTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGAAATGTTGTCCCTAATAGTGAAAAAGTCAAAGCAAACCTCAAAAAGAATACAGCTGATTAATAAGTATTGATACATATACAAAACTGAGCCTTCAATTTCTGTCATTATATCTACCTGTAACTCTATCATATTTTAGAATGAGCATGCACTTTTGTAATCAGAATATAAGAACATTTATAAAGTAATAGGAGAAAAGTAACCTGAATCATATTAGGTTGGTGCAAAAGTAATTCCGGTTTTTTGTCATTACTTTTAATGGCAAAAGCCGCAATGACTTTTGCATCAACCTATTACTATTTTTTTTGCAGTTATTTATACGACCAATCGGATTTTTAAAAACAATTTTATTTAGTTGCTGGGAACAAGTCTGATTTTCTTTTCTCCTCAGCTATACAAGGTTGGCTTGTAGGGCAATCATCTTAGATATGTCTGAAGAGATTCGAATTTGAAAGAAGGAAAACCAGAAGTTTCATACTTCTAAAGGAAAACGTTTTCAGAAAATGAGTGAAAAGGAGTGACTACAAAGGAAGCATTCGCTTATCTCAAAGCAAATACTAAATTACAGATTCCTCTCAGCGCTCTACTGGTGAAAAAATTTAAAAATAAATAAATAAATTACAGACAGTAACATGCTTCCATTTCATCCCGACAGCTTCAGGATGGCGCAGTCTCCAATGGGACAAACCCAGGGAGGCGTGACTCGGCCACAGCGCGTTCTGGGAAGGCCGCTTAACCAATCAGCGCCTTGGTTTCCAGGGGTCAGGTCTGCATAAAAATGCTGCCCTTTCCGTTCCTATAGTGGTGTGATGCAGAAACGCCGCGACAGAATGGGGTTATCTACATTAACAGCGCGCGGCCTTCCAGGCTCCTAAATGGACTTTCACAAACACCCTCCATCAGGCCAGGCCCGCGGGTGTGACCCGGGCAGACACAGGCTGCCCCCACACTTCTGGACTCTGTGTCAGGGCGCACACGCTGACAGCATGGCTAACTTTCTGGGGGCCGGGGACATCTGGGAGAAGCAGAATGAAACAGAAGATCGATTCCCTAGGTCCTAGGAGATGAAACGCCACCTTTGCGGGTTCGCGAGTCCTTAGGATCAAAGCTGGGCTCCCCAGGGCCGGGGCCGCTCGCCCCACATCCTCATTCCAGTCCCCATCCCCACCCTATCCCCGACTCTGCCCCAGGCCCAGGCGGGAACCACGCACCGAAACGAGCGGGACGCGCAGGCGATCCCCTTGCAGCCGGTTGAAGGCGGGGAACGTGCTCCAGGCGAGGAACCCGTCGCTTTCGGGTCCGAGCAGGGCCACGAGCAGCACCTGGTGTTGGAAGCGCACGGTCGGCTGCTCCTCGTAGCTGCTCCGCTTCAGCCAAAACCCTGAGTTAAAGAGGGCGGTAGGGAGGCGGTTAGGGAGGCCGGCCCTGGCCGAGCGCGCCCGGGGAGCCTCGTGGCACAGCGGCCGGGGCAGGCTCACCGTGGCTCCGGAAGGCCACCAGCAGCGGCGGGATGTACGTGAGCGCAGCGGCCAGCAGCAGGAACAGCGCGGCTTTGGAGCAGAGCCCCGCGCGGTAACTGCGCTCGACCGGGTGAGAGAAGAGCTCATAGAGCGTCATGAGCACCGCTCGCAGGCACTCCGCGAGCCGGGGGACCAAGTTTGGCTTCTCCTGGTTGCCATCGCCTCGGTCTCCACGGCAACCGACGGCTCACAGAAAGGAGCCAATAGCAAGGCCGCACCGAAAGGAGCCAGTGGCGGGGGCGGGGTTAGCGGGCGTGGCGCTGCCGGGGACGGTCGGCCTAGCTTTTCGAGCTGTGTACGTTTGCGTAAAGGCTGGGCGGCGATAGAACGTTTCCGTGGACCAGAGTCGTGGCTGTTGTCTGTGTTAACATTTGTGTAAAATAAGATGCCCATAAAAGTTGACTTGAACACTGAGGAGGAAGAACTAAATATTTAAATTTCAACTGACATGGACACAAACAATGGTCACCAAGTCCCTAAACAGGTTGTGGGAGCCCCTTGAGGCGTTCATCCAGCGCTGTTTCGGAGAAATCTCTATTTCAGTCTACTCCTATACGTCAGTTATTGAAAAACAACAATCGCAAAAACAAGTTGACCTTTTTGTGTTCCTTGAGCCCAGTCGCAAAGGGCCCTCGTGACTGGGCCTCATGCTAGACAACATGTTACAAAAAGATCTAGGGTCCCAGACCACGCCAAAAAGCTTCATGAGACCTCTCCTCGTCTGTGCACTGACGAGTGGCCGGCTCTGGAGCCCAGGTCGTTGCTTCCCAGTCTGGAGGTGAATCCTCCATAGTCTGGTGAGTGTAAATATATATATATATATGTCTTTTTCCTTCTCCTCTTCCCATTGCAATTTGCTTATTATATCAATCTGCTTATTATATTAATTTGCTTATTATAATATCTGCATTGCCATTTACGTGGGATAAAGCTTGCTTACCCTTAAAGGTACTGTGTGTGTGCCTTTTCTTCTCCCCTAGCGCGTCTCCCGCACAGAACGAACACCTGCTTTTGTGTCATCTGTTAACCCCCAGTGTGGTTCCTACTGAAGTCCAGTCAGTCACAAGCCTGGCCGTGGTCCTGGACCTGGTCCTGGGCTGAGATCAAAGCCAGGTGCTTTTGCCCCCAGATTTTCTGTTGCTTCCACTATGCTCCCATGCAAGACAGACACGGAAACACAAATCCCCTGGCTCTTCCACGGATAGAGTGGAATTACTACAAAGCTCTGATGCACTTCGTTAACCCTGTGTTGGGTACAGCTCAGCCGCGAGTTTTACAGGAATATATGGTCCTCCCCAAAGATCACTGGCTTATTGCTTAATTGAATGCCTACACCCCCCCGCCACCACCCCCAACCAATATTTCTAACATGGTAGAAGGACTTTTTAAAAAAATCTATGGTCCACAGCCAATTTCTTCATCAAATGGCCCTGAATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAACCCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGATTACAGTGAGCGGAGATCACACATTGGACTCCAGCCTGGGTGGCAGCGAGACTCCATCTCAAACAACAACAACAACAACAAAAAGGTCCTGAGTGGCTGAGCACAGTGGCTCATGCCTGTAGGTCCAGCTACTCGGGAGGCCTGGGCAGGAGGAAGGCTTGAGCCCAGGAGGCTGCAGTGAGCCATGAATGCACTACTGCACTCCAGGCTGGGAGACAGAAGGAGACCTTGTCTCTAAAAAAATAAATACAAAATATTTAAATATAAGTAAATTTGTTAAAGGGTCAGTAAAATGACATTTAAGTGGAAAGACATGATAAGCTTTGTGATTTGGAAAAGTCACTCTAATGACAGCATGTCAGTAGTGTAAACCAAAATGTATCTGAGACAAGTCTCAATCAACGTAGAAATTTATTTTGCCAAGGTTAAGGACATGCCTGTGACACAGCCTCAGGAGGTCCTGATGACATACGCCCAAGGTGGATA
Task1_train_22920
A variant was discovered in gene KARS1 (lysyl-tRNA synthetase 1), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCAATTGTCTGCATTGACAGTATTACCTGAAACCTAGTCCCTTACCTGTCCTTGACCTTCCACCACCTCCCTTGGTGAGATGATTATCTCCCGTTTTAGTTACCACTCCCTTTCTGAGGATGTGCCATTTGAAAATGTTTCTTCTGAAATGCCACCTGGTCACGTACTGCTTAAACACCAGCAGGGGTAGGGATGTTCCTCACTGCCTGAGGTAGTTCATTTAGGCAATTCTGAATGCTTAGGTTGTTTTACCAGCTACAGAAACAGAAACCTGCTCTGTGAAAGGAGACTGGCTGCTCCCAAACTGGGATGCTTGCAGAGGTTTTGCTGAGGTGCAGAAGGTAAAGTCTTCCGTCATGTGAAAAAAGGTCTTCCCAGCTGTCTCCGTGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTC
TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCAATTGTCTGCATTGACAGTATTACCTGAAACCTAGTCCCTTACCTGTCCTTGACCTTCCACCACCTCCCTTGGTGAGATGATTATCTCCCGTTTTAGTTACCACTCCCTTTCTGAGGATGTGCCATTTGAAAATGTTTCTTCTGAAATGCCACCTGGTCACGTACTGCTTAAACACCAGCAGGGGTAGGGATGTTCCTCACTGCCTGAGGTAGTTCATTTAGGCAATTCTGAATGCTTAGGTTGTTTTACCAGCTACAGAAACAGAAACCTGCTCTGTGAAAGGAGACTGGCTGCTCCCAAACTGGGATGCTTGCAGAGGTTTTGCTGAGGTGCAGAAGGTAAAGTCTTCCGTCATGTGAAAAAAGGTCTTCCCAGCTGTCTCCGTGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAATACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTC
Task1_train_22921
A variant found in Chromosome 16 affects KARS1 (lysyl-tRNA synthetase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTG
TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTTCTGCCCTCAGGAACACAGGCAAAGTACAACCACTTGTAACCATTTCCACTGGTCCATGCACGTCGCAGCCACTGTCTCCTCAGCCCATGGTGAATGCTCAGCTGGTCTCCCTTCGTTGCTCTTGTCCTCCACACAGAAACTAGAATAATCCTTGAAAAACACTCCTCTGCTCAAAATCCTTCCATGGTATCTCATTTCCCTCAGAAAACACATACTTTTCTGAGTGGCTTCCAGGGGCCTGCGTGATCTGGCCCCTCACTGACCTTCACTCATCCCTGTCCAGTCACACCAGACCCTCTGCCATTCCTCAAAAACATGGTCCTTTAGTCTGAATGGCCTTTTCCCACAGACCTCCCCAGCTCAGTCTCCAGACCTCTACTGAAATGCCCAGCAGAGGTCTTCCTGACCACCATAAAGTAGCACTGTTCCTTCCACCTCTAAAATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTTATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTG
Task1_train_22922
With a mutation on Chromosome 16 in gene KARS1 (lysyl-tRNA synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Deafness, congenital, and adult-onset progressive leukoencephalopathy
ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGG
ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGAATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGG
Task1_train_22923
A variant affecting Chromosome 16, within the gene KARS1, LOC126862402 (lysyl-tRNA synthetase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 89
TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCA
TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAGACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTTCCAGTGTATCAGTGGTTGCTACATTCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAATGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAGATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACTCAGACCCTCTCAAGTTACAGATGACAAAGAACAAATGCATAGCACTGCCTAGGGCACTATGTCAAAAGGATGAATAGACGCATTTCTATGAAAATTTGATTTCCTCATCTATAAAAATGGGAAACAACAGTTTCTACACCTCATAAGGCTGACTTAATTAGCTGAAATAATGCACGGAGACTTCCCTGGATCCTCAAGAAATGCAAACAATTAGTATTCCTTCTGCCCCTGGTAGGAAAAAACCCAAATCCTTTAAGGTCAGAGGCTCTGGCCCTCCTGTGAGTGGCATGGAACTCCTCTGCCTGCTCCTCTTCCCAGCCCAAAGCCCTTCCTTAATTTTATCCTCCAGGCCCACCATGCCCTGGCTCCAACACAATGCAGCTTCCTCAGGAAGTGTGCTCTGTGGAGGGTTGCTACGTACCTTGATGTTGTTGGAGTCCGTGAGAAACATGGCGACTCGATCAATGCCCATGCCCCAGCCAGCTGTGGGGGGCAGCCCATATTCCAGGGCAGTACAGAAGTTTTCATCTATGAACATGGCCTCATCATCACCTGCAGCCTTGGCCTAGAAGAGGAAAGAGAACCAAAAGGTGACCTTCTTCTAAGATATCTCAGTGTGTGAGTGAACATGTTACCAGGCTCCGAGGTGGGAGTACCATCATTCCAGAGATGCTCCTGACACTCAGGACTTGCTGGGAATTCATTTCCTAGTAACTCCAAGATGCAGCCGTTTCTTTCAAAGACCTGGAGGTCAGGACTGATGAAATCGACCTCAGAACACATACAAATTTCTCTGAAAGAAAACCCTTCTGCTGCTTGGGGCTCTGGGACTCCAAACAGGTTAATTCTCAGAGACTGTGACAATTACAAGAGTCTTTCTCCCATTTCCTGAAAACAGCCCTGTCAACACCTGCTGCAGGCAGCCTGTGGGGGTTCTGTCTTCTCCATTCATCTCTACCTACCTCCCAGCCCTAAGCCACCTTAATACATGTACAATCTAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGTGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCA
Task1_train_22924
Gene KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCAAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
Task1_train_22925
A variant affecting Chromosome 16, within the gene KARS1 (lysyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; KARS1-related disorder
TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGCACTTCTCCTGCCTCAGCCTTGAGTAGCCGGGATCACAGGCCCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATATTGGCCAGGTTGGTCTAACGATCAAACATCTAATACAATAATTGAATTCTAGTGGACTCAAAAGTGTTACTGATTGCAGTCAGAAGCCTGCATGCAGTCTCAGCAACAAATCATTTGGTACAACGGTGAGGAGGGTGAGAGAGACCAGGAAGGTTTAATGATCTTCCTAACAGGCCAGCGGGCAGACTGTTAAAATGGACCACACCTCTTGCATTCATGCCCATGTGTAGTCTCCTTCACCTGGACTCTGCGCTGGCAACATGTCTTGGTTTGGCCAATGGGTTATCACCAGAGGCTTGATACGTGTTTGCACAATGAGGTCTGTTCTTTTGGAAGCTTCCCCTTAGAGCCCAACCACCATGCTGAAGGGAAGCCCAGGCTGTGCTGCCAGACAGGCCACATGAAGAGGCCCTGGAGGATAAGATCGTATGTGGAGTGACCACGTGGAGGAGAACCAAAGTGCCCTGGCAGAATCCCCAGTTGAAAAAAAGCCACTTGGGTTACCCTGGTCAACACCACCCAGCAGAAAGACCACCAGTCAAACCACAAAATCTTGACAATAAATTGTTAACACCACTAAGTTTTGGGGCTGTTATGCAGCAATAGGTAACTGGAATCTTACCATTTAGCCAAAGGGCTCATTATCTGTGGGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAGCAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGCTTTTTATTTATTTATTATTATTATTATTATTATTATTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTTGCTGCAACCTCCGCATCCTGGTTCCAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCGGGGATTACAGGTGCCCGCCACCATACCCAGCTCATTTTTGGATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATTCATCTGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCACCCTACCCTATAGCTTTTTAAAAGCTGGACGGGATTAACTGAGATCACACACATAAATTATTTGGCACAGAGCTTAGTATGACAGTTAAAAGTCTGTTAATTCTCTTGTTCTCTCTCTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGATGAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCAAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACCGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCTGTATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCCATGACAGCTAATCTTGTATTAACAGCTCTGGGAAGTTTCAGTCTCCAAAAGCCGTAACTTGGTTTTCACAGGTTAGGTATACTCTCAGGTCTCTGGTCAAATTGCCAAGCACCCTGCTCTCTTTATACCCTTGTAGTGTGGATAGTTACCCCTTTTTTGGCTGCCTAGGACTTCTCGATACTCTTCCTGTCTTGGGCATCCCCCATCATTGAGTCTGAACCTCCCCAAGGAAGCAGCCTCTCTTGGGGTTAGGCTGCAGGCGTGTGACCCAAGCTCCACCAGTCAGATACACTTGTGAGACTTCAGCATGGAAACTACTAACAAAAGATGTGGGTATTGCATAGAATTCATTCTGGTGAAGGGGGCCAGTCACACGTAGCTTTTAGATTGCAGAGGTCCTAGCGGCAATGACTTGTGCCTAGTGCCAGGATTATGAGCTGTAGTAACTGTGCCTACTAGGAAAATACACTGGGTTCTCCATGAGAACAGCCCATTCTAATATGACTCAGAATCATTCCTAGTTGTATAGTTTCCAAGCCTGATTCTCTGATCCTCCTGGGGACTGTGAGCTTCCTCTATGTTGGGATTCACTCAGGATGGTGGCAGAAATATTAAAGGGAAATATTGGGGAAAGTTATAAGGAATAGTCACAAACCTTTTGGAAGGCCGAAAGGTTACGTAGCTTGTAATAACTGAACAGGCTGAAGGCAGCCAGTTCTTACCGTACAGCATTAGGTCATAGGGTAAATACTACGGAAAATAGAGGCTTCCCCAGTTAAGTCTGTTTACCCTACCTCCATTAACTAACCTTTCAGCCAGATGGCCCTCTTGGGGGGAGGTTGACCAAAGATACTGCTCCCTAATGGTATTTACTTTAGACCATGGTACCTGGACTTTAATAATTCCTAGAACTCCTCTCTTACGATGTTAATTATCCACAAGTGTGTTTACTCAAAGCTTCTGTTGTTAATTCTATACTAAATAAATGCCTGGAGTGAGAGCTGCTCAGGGTCGGCCGCAATGACAAATACACCTCTCTTGGTGTGCAGG
Task1_train_22926
The following genetic variant occurs in KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Charcot-Marie-Tooth disease recessive intermediate B
AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAGTAAAAAATCTTTCAGAAAATGCAGACTAAGCTATAAGGAAATAATAGTGACTAAATACAACAAATAATGCCTTAAGAGAAACAGAAAGTGAAAAGGAGGATAAAATTTAAAAATCAAAGTATAAAGAAAGATAAAAAGGATTTGAGATAAAGTGACAATTATCGAAAAGAATCAAGATGATCCAGTATGCAGATAAAAGTCCCAAAGGAAATGTAAAGCAAGAAACAGAATAAAAACAAACAATTAAAATAAAAAAGATCTGCTGGGAGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGTGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTACAGCCTGGGGGACAAGAGCAAGACTTCGCCTCAAAAAAATAAAAATAAAAAAATAAAAAAAAATCTGAATACACAGATGTGAAAAGATCTCAGAGCACACTGTGTATCTGAGAATACTGAACTAGAATAACTAACATCAATAAATATTTTAGTGGCAGGGTGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGCGAAGCCCCATCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTAAGCTGAGATGGCACCACTGCATTCCAGCCTGGGAGACAGAGTGAGACTATATCTCAAAAAAAAAAAAAAAAAAAAAGATTTTAGTAAAATCACTGCACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTGATTCTTGCTGATGAAGGGAATCCTTATAGAGAAAGCCCCTCTCTTTGTAGCACTACCTCATCTGGAATATGATTCCATGTCTCAGGGCTGCTCTGCTTCTTTCTGTATAGATATAATGGCACTGTCCTTAGTAAAGTAGCTTCAGACACAGGCTACTTGAGAACAAGACCAACCCAGACCTTCCCTTGTGCTACTGAAGCCGCAGGCCTACCTGCTGTGGGAGTTCAGTGATTTGCCAGGGAGAGTTCCTACCTGCCACCTTTAAGGTGATGTCAGTCAGGTGATCCCCAGGCTGCAGGTGACTATATTTTTGGATGAAGTCAGTGAGTGAGATGTCTACATGGAACTTGTGTGGGTATGGGTCTTCCCCATTGACCTTCAGCTGATGAATTGCTTGACTGCGGATTTTGTAGTATTGCTGTTAAAAAAAAAAAAAAAAAAGCCCTTCAGAAGTTGAACCTGGTCAGACCAGTGGGGCCCACCTAGCAGAGGGCAGTATTCTGCCCCCGAGTGACCCCAATACATTGTTTTCTTTAACCAAGACCTCTGCATTACAGGATTGAATATGGAGTGAGATTTGCACTTAAAATATGCAGGGCGGCCAGAGGCCAGCATTTCAAAATGCAAGAGTCAACAAAAAGAAAAACCTGAGTTCTGCCTAAAATCATAAAAGTTTAATTTTTAATTGGTACAGGTGGCCTTGTTGTCACTTTTGTAGACCACATTTGCATGGTGAGTCGAGTCACTTACGTTCTTAACTGCTTATGTTCTTAACTACTCTCCTACCTCTGGCGACACATCAGACTTTTCCCCAAGGCATGGGGCCTGGAGAATGTAAACAAGGAATACTCTACAGCAGCCTTTCTCACAAAGCTTTTCTGATGCAACTTCTCAACTCTGCTGTTTCAGGGGGAAAGCAGCCTCAGAAATACGTAAACAAATGAGCACAGCTGTGTTCCAATACAATTTTACTAGTAAAACCAAGGAGGGGCAAGGTGTGGTGGCTCATGCCTGTAATCCTAGTACTCTGGGAGCCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATTAACAGGGTGTAGTGGTGTGCGCCTCTAATACCAGTTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTTTGCCTCAAAAAAACAAAAACAAAAACAAAAAACCAGGGAGGGAAGGATAAAGTGGGGGCATGGAGAGTGGGTTTGGCTGGTGGACTGTAGTTGGCCAGCCCCTGGTCTAAAGTAAACCTCAGGCAATCTTTAGAGAGACACTTTCCCTGGGGCCTCAAGGTCAAGCTAATTCCAAGGAAGGTTAATTCACTTGAATGCTGGACTCTCTCAAATGCCTTTTGGGGGTTGACATAAAAAACACTCAGGGTCTGTGCCTTTAACCAGATGCAGTGGGAGACCCTCCCTTATCCCTGGCAGTGACCTCAGGCGTACTGGTCCCTCCTACTGTCCAGTCCCAAAGAATCTGCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACATTTGGGTCCACGCTCTCTTCCTCAGGACCCACACCATTATCAGTGGTGTGGTTGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCACTGAGCTCTTTCTGTTTGGCCTCCTTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAAGCGTTCAATGTGTTAGCTGCCTGAAGAGTCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCAGGAGAAACGCTCTTGCTCAGTTCTATACCCCTCAATTCCACACCCACAGCTCAGCTCAAGTAGCTTGTCACTAAACTCTTTATGTGAAAGACACAAAGGGAAAAATAAGCTTAGAACAAAGATGTGAAAAATCACTCTCAGTCTCTGCTTGCCAGTCTCAGGTCCTTGGCATTAGGTCCCAACTAAAACCAAGATGTACCAAGACAAAGAAAATCCTATGCATTAGTTTTGAATAGGAGAAAAGGTTTTCTAGAAAATTAGAATAGGCTTTTCTTGAGCTAATTAGGTTAGGGAGCTCCTTGAGGACAGTGACTGAATCTTAGTTGTTTAGTATCCCCCTAGAAGGTGAAGTTCCAACAGTGCCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGAGACAGAGTTTTGCTCTGTGGCCCAGGCTGGAGTGCAGTCACAATCTCAGCTTACTGCAATCTCTGCCTCCCGGGTTTCAAGA
AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAGTAAAAAATCTTTCAGAAAATGCAGACTAAGCTATAAGGAAATAATAGTGACTAAATACAACAAATAATGCCTTAAGAGAAACAGAAAGTGAAAAGGAGGATAAAATTTAAAAATCAAAGTATAAAGAAAGATAAAAAGGATTTGAGATAAAGTGACAATTATCGAAAAGAATCAAGATGATCCAGTATGCAGATAAAAGTCCCAAAGGAAATGTAAAGCAAGAAACAGAATAAAAACAAACAATTAAAATAAAAAAGATCTGCTGGGAGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGTGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAGATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTACAGCCTGGGGGACAAGAGCAAGACTTCGCCTCAAAAAAATAAAAATAAAAAAATAAAAAAAAATCTGAATACACAGATGTGAAAAGATCTCAGAGCACACTGTGTATCTGAGAATACTGAACTAGAATAACTAACATCAATAAATATTTTAGTGGCAGGGTGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGCGAAGCCCCATCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTAAGCTGAGATGGCACCACTGCATTCCAGCCTGGGAGACAGAGTGAGACTATATCTCAAAAAAAAAAAAAAAAAAAAAGATTTTAGTAAAATCACTGCACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTGATTCTTGCTGATGAAGGGAATCCTTATAGAGAAAGCCCCTCTCTTTGTAGCACTACCTCATCTGGAATATGATTCCATGTCTCAGGGCTGCTCTGCTTCTTTCTGTATAGATATAATGGCACTGTCCTTAGTAAAGTAGCTTCAGACACAGGCTACTTGAGAACAAGACCAACCCAGACCTTCCCTTGTGCTACTGAAGCCGCAGGCCTACCTGCTGTGGGAGTTCAGTGATTTGCCAGGGAGAGTTCCTACCTGCCACCTTTAAGGTGATGTCAGTCAGGTGATCCCCAGGCTGCAGGTGACTATATTTTTGGATGAAGTCAGTGTGTGAGATGTCTACATGGAACTTGTGTGGGTATGGGTCTTCCCCATTGACCTTCAGCTGATGAATTGCTTGACTGCGGATTTTGTAGTATTGCTGTTAAAAAAAAAAAAAAAAAAGCCCTTCAGAAGTTGAACCTGGTCAGACCAGTGGGGCCCACCTAGCAGAGGGCAGTATTCTGCCCCCGAGTGACCCCAATACATTGTTTTCTTTAACCAAGACCTCTGCATTACAGGATTGAATATGGAGTGAGATTTGCACTTAAAATATGCAGGGCGGCCAGAGGCCAGCATTTCAAAATGCAAGAGTCAACAAAAAGAAAAACCTGAGTTCTGCCTAAAATCATAAAAGTTTAATTTTTAATTGGTACAGGTGGCCTTGTTGTCACTTTTGTAGACCACATTTGCATGGTGAGTCGAGTCACTTACGTTCTTAACTGCTTATGTTCTTAACTACTCTCCTACCTCTGGCGACACATCAGACTTTTCCCCAAGGCATGGGGCCTGGAGAATGTAAACAAGGAATACTCTACAGCAGCCTTTCTCACAAAGCTTTTCTGATGCAACTTCTCAACTCTGCTGTTTCAGGGGGAAAGCAGCCTCAGAAATACGTAAACAAATGAGCACAGCTGTGTTCCAATACAATTTTACTAGTAAAACCAAGGAGGGGCAAGGTGTGGTGGCTCATGCCTGTAATCCTAGTACTCTGGGAGCCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATTAACAGGGTGTAGTGGTGTGCGCCTCTAATACCAGTTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTTTGCCTCAAAAAAACAAAAACAAAAACAAAAAACCAGGGAGGGAAGGATAAAGTGGGGGCATGGAGAGTGGGTTTGGCTGGTGGACTGTAGTTGGCCAGCCCCTGGTCTAAAGTAAACCTCAGGCAATCTTTAGAGAGACACTTTCCCTGGGGCCTCAAGGTCAAGCTAATTCCAAGGAAGGTTAATTCACTTGAATGCTGGACTCTCTCAAATGCCTTTTGGGGGTTGACATAAAAAACACTCAGGGTCTGTGCCTTTAACCAGATGCAGTGGGAGACCCTCCCTTATCCCTGGCAGTGACCTCAGGCGTACTGGTCCCTCCTACTGTCCAGTCCCAAAGAATCTGCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACATTTGGGTCCACGCTCTCTTCCTCAGGACCCACACCATTATCAGTGGTGTGGTTGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCACTGAGCTCTTTCTGTTTGGCCTCCTTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAAGCGTTCAATGTGTTAGCTGCCTGAAGAGTCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCAGGAGAAACGCTCTTGCTCAGTTCTATACCCCTCAATTCCACACCCACAGCTCAGCTCAAGTAGCTTGTCACTAAACTCTTTATGTGAAAGACACAAAGGGAAAAATAAGCTTAGAACAAAGATGTGAAAAATCACTCTCAGTCTCTGCTTGCCAGTCTCAGGTCCTTGGCATTAGGTCCCAACTAAAACCAAGATGTACCAAGACAAAGAAAATCCTATGCATTAGTTTTGAATAGGAGAAAAGGTTTTCTAGAAAATTAGAATAGGCTTTTCTTGAGCTAATTAGGTTAGGGAGCTCCTTGAGGACAGTGACTGAATCTTAGTTGTTTAGTATCCCCCTAGAAGGTGAAGTTCCAACAGTGCCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGAGACAGAGTTTTGCTCTGTGGCCCAGGCTGGAGTGCAGTCACAATCTCAGCTTACTGCAATCTCTGCCTCCCGGGTTTCAAGA
Task1_train_22927
Consider this mutation in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Microcornea-myopic chorioretinal atrophy
AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATATAGTGTTATATATTATATATAATATATAGTATATATGCTATATATAATATAAAGTATAAATAATACTACATATATTATACTATTATATATACTACATATTTATATTATATATAGTATATATATTATATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGGATATTATAGTATATATTATATAGTAGTATATATAGTATATATTATAGTATATAGTATATATATACTACTATAGTATATAGTATATATACTATAGTATATAGTGTATATACACTATATACTGTATATAGTGCATATACTATAGTATATATATATAGTATATATATACTGTATACTATAGTATACTACTATATACTATAGTATATATACTGTATACTATAGTATACAGTATATATACTATAGTATACAGTAAATATACTATATACTATAGTATACAGTATATATACTATATACTATAGTATACAGTATATATAATATACTATAATGTACAGTATATGCACTATATATTATAATATACAGTATATATACTGTACATTATAGTATATAGTATATATACTGTATTTTATAGTATATAGTAGTATATATACTGTATATTATAGTATATAGTAGTATATATACTGTATATTAATAGTATATAGTAGTATATATACTATATATTAATAGTAATTATATATAATGTAGTATAATAGTATTATTTGAATTAATGGTATTCAGCCTATTATGATAGTATTAATCCTACTTAATACTATGAATCCTATTTAATACTATTCAGCCATTATAAAAATGAAATCCTGTTATTTGCAGCAACATGAATGGAACTGGAGGACATCATATTAAGTGAAATAAGCCAAATGGAGAAAGACAAATATTGTATCTTCTCCCATGTGAGAGCTAAAAAAAAAAAAAAAAATTGAACTCACAGAGCTAGAGCTAGAGAGTGCATTGACAGAGCTGGGAAGGGTAGTGGGGAGGGAGAATGGTAATGTCAGCATGGTTAATGGGTACAAAAATATAGTTAGAATGAGTAAGATCTAGTATTCAGTAGCACAAATAGGGTGACTATAGTTAACAATTCATTGTATATCTTAAAATAACTAAAACAGTGGAATGGGCCTAATAAAGAAATGACATTGGAATTTTTTTAATAAAGAAACAATAAAGGCTTGAAGTGATGGATACCTCATTATGCTGATTTGATCATTCCACATTGTATAGTTGTATCAACACATCACATGTACCCCATAAATATGTATAACCATTATGTAGCCATAATAATTAAAAATAAAAAAATAAACTTAAAGTATGAACAAGAAAAACCAGCGTGTTACAGGCTGAAGGTTAAGGCCTTGCAAAGACTAACTTTCTGCTGGAGGCTTACTTGGGGTTATTGCAGTGTCTCTCCTGGAACTTGACTCCTCCACCACATGTCCGGGAACATTCTGACCACTTCGACCAGGCGGACCACTGGCCGTGGATGGGCCGGGGCCCGAGCTCCCCAAACTTTACGCACTGGCCTTGCCGACACCACTGTGAAAAGAACGTGTAAGATGGTTCCCGTCAGAGACCACCTGGGAAAGCGCAGGGAGTTGCCAACACCTGCACAGTAACAGGAAAAACAGGTCTGTTGGGAGAAAAGGAAAATGCCTGATACCTTGATAAATTCCTCTGCTGTGCTCTAAAAACACTCAACTACTCTGCATTGACCACATCCATTTTGAAAGGCTGACATCTAGAGAGAAGTGGCATTGTTCACCAACAGGCTGAGTATGATAGGCTTTGTGAACTGTGGAGGTGACATGTTCAGATAAGATTCCACCTAACAGCCAAGGGAGTCAGTATAAAGTTACAAGGAAGCCTGCCTTGCCACTGAGAGACAACACTACTTAAAGAACAATTCGGATCACTCATTCAGGAAGAAACAGTTAAGATATTAACACAATTTATCATTCTGAAAGAACAATTGGGATCACTCATTCATGAAGTAACAGTTAAGATATTAACACGATTTATCATTCTGAATGATTATCTTATCATAAAATAGATACAATTACACATACATTATATTTTTGCTTATTCCAAACCCGTCACTATAGAGCATTTCTTACAAAGCTGAACAACTCAGTCTGTACAAATTGTTCTCTTCAGATAGCATCCTTTTTCCTTTGTCTACATAAAAGGTGCCCACTTCAGATGCTCTGATGACTTTGAGCTCTTGCAGTGTCTTTGATGAATTAGCCCAGGGTCTTTCATTTGCCCATGATCTGTACAAGCTAGATGGAGAGCTTTTTTCTGTATTAACCTTTCCATTTTAGTTCTCCTTTTTGTAACAAATTCCTGGCTTTGCTGGTCATCTCTCCCTAGGGGATGCATTAGCCTCTGGTAGTGTTTCTTTTGTTTTTGTTTTATTTTTTGTTTTTGTTGCCTACCCCCAATCCCCAACCCCTGCAGTGCTTTGATTATGAGAAAGTTCTGCATGACTTAGCATAACTGCTCTTTTCTAAAAGCCTCTGCAATTAGATCCAAAGGGTTGGGGTTTGGACCATGCCAGGTTTTGCTGAGGAATTGGGGGATCGGTTACAGAATTATGGGAAGGTTGTTTGACTTTCAAATCTTCACTTATCCCCTGCGATACATTTGGCTTCATGACTGTTTACTGTGTGGCTTGGTTGCTAGCGCACTCTATCTAGGTTAAGATATTGCTTCCTTTCTTCAAATTCTTGCCATGTGCTGATTAATTCTTCTGTTTTTAATTTTTCTTTTCCCTGGATTAATTGCCATTTCAGAGTTTGCATGAAACCATATAACACTATTGAGAAGTTTTTGGGGAAGGCTATCGGTCATTTGAGGATTTTGCCTACCATAAGCATGCATCTTTTCTACCGGGAATCACGAGGACTCTACTGGACTGAGTTCAGTGGCTGAGACAAAATTACAATAGCCAATAACAGTAACAGCAGCAGCAGCCACAGGTTATCAAGCTGCTTCTATGTGCCAAAAATGATGCAGAGAGCTTCACATGCAGTATCTCATCTAATCCTTGCAAAGCACTGAATTAAAAGCCGTTTTCCTCAGTAGGAGAAATTTAGCAAAGAAATACTAGCTAACTTGCTCAGAGTGACACAAACTACCCAAACAGATCTATTCAAATAACTATGCAAGTATAAGAGACTGGATTTAACTCAGTAGCCAGAACTCCTAAGCAGGACACTTCTACTTCTCATCTTGGAGGCAAATTACTGACCAATGTACCTTAATTCTAATCTAATTTCTTTTTGGAAAATGTGTTTTTTAGATCTCTTCCAGTCATTCAATTAACTTGATGTTCTATTACTTCAGTATTTGTTCTAGTATTACGTTAGGCTGCTATCACACTGTCTCCATTTGGCCTTTTAATCAGTGTAGAAATCAGGAATATAAAGGAATGTACACACAGACCTGCACACATTCACATGAATAGGTAAAATTCTACATAGAAAATGCAAATTTAGAATATATACACCTGTAATTTTATCCATCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGACAAAGTT
AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTACATATAATATATAGTGTTATATATTATATATAATATATAGTATATATGCTATATATAATATAAAGTATAAATAATACTACATATATTATACTATTATATATACTACATATTTATATTATATATAGTATATATATTATATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGTATATTATAGTATATATTATATAGTATATATACTGGATATTATAGTATATATTATATAGTAGTATATATAGTATATATTATAGTATATAGTATATATATACTACTATAGTATATAGTATATATACTATAGTATATAGTGTATATACACTATATACTGTATATAGTGCATATACTATAGTATATATATATAGTATATATATACTGTATACTATAGTATACTACTATATACTATAGTATATATACTGTATACTATAGTATACAGTATATATACTATAGTATACAGTAAATATACTATATACTATAGTATACAGTATATATACTATATACTATAGTATACAGTATATATAATATACTATAATGTACAGTATATGCACTATATATTATAATATACAGTATATATACTGTACATTATAGTATATAGTATATATACTGTATTTTATAGTATATAGTAGTATATATACTGTATATTATAGTATATAGTAGTATATATACTGTATATTAATAGTATATAGTAGTATATATACTATATATTAATAGTAATTATATATAATGTAGTATAATAGTATTATTTGAATTAATGGTATTCAGCCTATTATGATAGTATTAATCCTACTTAATACTATGAATCCTATTTAATACTATTCAGCCATTATAAAAATGAAATCCTGTTATTTGCAGCAACATGAATGGAACTGGAGGACATCATATTAAGTGAAATAAGCCAAATGGAGAAAGACAAATATTGTATCTTCTCCCATGTGAGAGCTAAAAAAAAAAAAAAAAATTGAACTCACAGAGCTAGAGCTAGAGAGTGCATTGACAGAGCTGGGAAGGGTAGTGGGGAGGGAGAATGGTAATGTCAGCATGGTTAATGGGTACAAAAATATAGTTAGAATGAGTAAGATCTAGTATTCAGTAGCACAAATAGGGTGACTATAGTTAACAATTCATTGTATATCTTAAAATAACTAAAACAGTGGAATGGGCCTAATAAAGAAATGACATTGGAATTTTTTTAATAAAGAAACAATAAAGGCTTGAAGTGATGGATACCTCATTATGCTGATTTGATCATTCCACATTGTATAGTTGTATCAACACATCACATGTACCCCATAAATATGTATAACCATTATGTAGCCATAATAATTAAAAATAAAAAAATAAACTTAAAGTATGAACAAGAAAAACCAGCGTGTTACAGGCTGAAGGTTAAGGCCTTGCAAAGACTAACTTTCTGCTGGAGGCTTACTTGGGGTTATTGCAGTGTCTCTCCTGGAACTTGACTCCTCCACCACATGTCCGGGAACATTCTGACCACTTCGACCAGGCGGACCACTGGCCGTGGATGGGCCGGGGCCCGAGCTCCCCAAACTTTACCCACTGGCCTTGCCGACACCACTGTGAAAAGAACGTGTAAGATGGTTCCCGTCAGAGACCACCTGGGAAAGCGCAGGGAGTTGCCAACACCTGCACAGTAACAGGAAAAACAGGTCTGTTGGGAGAAAAGGAAAATGCCTGATACCTTGATAAATTCCTCTGCTGTGCTCTAAAAACACTCAACTACTCTGCATTGACCACATCCATTTTGAAAGGCTGACATCTAGAGAGAAGTGGCATTGTTCACCAACAGGCTGAGTATGATAGGCTTTGTGAACTGTGGAGGTGACATGTTCAGATAAGATTCCACCTAACAGCCAAGGGAGTCAGTATAAAGTTACAAGGAAGCCTGCCTTGCCACTGAGAGACAACACTACTTAAAGAACAATTCGGATCACTCATTCAGGAAGAAACAGTTAAGATATTAACACAATTTATCATTCTGAAAGAACAATTGGGATCACTCATTCATGAAGTAACAGTTAAGATATTAACACGATTTATCATTCTGAATGATTATCTTATCATAAAATAGATACAATTACACATACATTATATTTTTGCTTATTCCAAACCCGTCACTATAGAGCATTTCTTACAAAGCTGAACAACTCAGTCTGTACAAATTGTTCTCTTCAGATAGCATCCTTTTTCCTTTGTCTACATAAAAGGTGCCCACTTCAGATGCTCTGATGACTTTGAGCTCTTGCAGTGTCTTTGATGAATTAGCCCAGGGTCTTTCATTTGCCCATGATCTGTACAAGCTAGATGGAGAGCTTTTTTCTGTATTAACCTTTCCATTTTAGTTCTCCTTTTTGTAACAAATTCCTGGCTTTGCTGGTCATCTCTCCCTAGGGGATGCATTAGCCTCTGGTAGTGTTTCTTTTGTTTTTGTTTTATTTTTTGTTTTTGTTGCCTACCCCCAATCCCCAACCCCTGCAGTGCTTTGATTATGAGAAAGTTCTGCATGACTTAGCATAACTGCTCTTTTCTAAAAGCCTCTGCAATTAGATCCAAAGGGTTGGGGTTTGGACCATGCCAGGTTTTGCTGAGGAATTGGGGGATCGGTTACAGAATTATGGGAAGGTTGTTTGACTTTCAAATCTTCACTTATCCCCTGCGATACATTTGGCTTCATGACTGTTTACTGTGTGGCTTGGTTGCTAGCGCACTCTATCTAGGTTAAGATATTGCTTCCTTTCTTCAAATTCTTGCCATGTGCTGATTAATTCTTCTGTTTTTAATTTTTCTTTTCCCTGGATTAATTGCCATTTCAGAGTTTGCATGAAACCATATAACACTATTGAGAAGTTTTTGGGGAAGGCTATCGGTCATTTGAGGATTTTGCCTACCATAAGCATGCATCTTTTCTACCGGGAATCACGAGGACTCTACTGGACTGAGTTCAGTGGCTGAGACAAAATTACAATAGCCAATAACAGTAACAGCAGCAGCAGCCACAGGTTATCAAGCTGCTTCTATGTGCCAAAAATGATGCAGAGAGCTTCACATGCAGTATCTCATCTAATCCTTGCAAAGCACTGAATTAAAAGCCGTTTTCCTCAGTAGGAGAAATTTAGCAAAGAAATACTAGCTAACTTGCTCAGAGTGACACAAACTACCCAAACAGATCTATTCAAATAACTATGCAAGTATAAGAGACTGGATTTAACTCAGTAGCCAGAACTCCTAAGCAGGACACTTCTACTTCTCATCTTGGAGGCAAATTACTGACCAATGTACCTTAATTCTAATCTAATTTCTTTTTGGAAAATGTGTTTTTTAGATCTCTTCCAGTCATTCAATTAACTTGATGTTCTATTACTTCAGTATTTGTTCTAGTATTACGTTAGGCTGCTATCACACTGTCTCCATTTGGCCTTTTAATCAGTGTAGAAATCAGGAATATAAAGGAATGTACACACAGACCTGCACACATTCACATGAATAGGTAAAATTCTACATAGAAAATGCAAATTTAGAATATATACACCTGTAATTTTATCCATCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGACAAAGTT
Task1_train_22928
This variant lies on Chromosome 16 and affects the gene ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTC
ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTATGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTC
Task1_train_22929
This is a variant in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Microcornea-myopic chorioretinal atrophy
CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACAGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTCCCTGATGATTTCTATCA
CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTTTCCTTATCTATGAAAACAGGTGACACTTGTTTATAAGGTTGTTGTAAAGATTTGCTTTGATGTCTCATATCAAACATGTCTTACCACTATAAACATCATTACTATCATTAATACAGGCTAAATCATTACTCTATATATGCTAAATGGATGCCCCTTAATGGGGATATTTCAATAATACCAAAAACTCAAAAACCAGTTAAAATGGTAGAAACTCTTTCATTATTCCTCCTGATTAATATCTTAGTGATACCAGTTCCTCTTCTCCATGAGAATAAACTTCTTCTGGCTGTGGTATCCAACTTGGCGCACAGTTTCCATGCACAGCTACTGAGCCACAGAAGAATTTAAAAGTTTAAAAAGCAATACTTGATTCAGCTATTGAAAATCTTTTGGCTGGGCGCAGTGGCTCATGCCTTTAATGCTAACAATTGGGAGACCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCGTGCTGGCGTGCGCCTATAATTCCACCTAGTAGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGGTTGCAGTGAGCAGAGATCGCGCCACTTCACTCCAGCCTGGGCGAAAGAGTGAAACTGTCTCAAACAAAACAAAACAAAAACAAAAACAAAAAAACAAGCAAAAAGAAAATGTTTTAAATGTTTTAAGTATGTCCCAAACAACTTGAGTATGTAAATCTACTTTTTTGACCTTAATTTTATACAAGTTAAATGCAGATTAAGTATTTCCAATAAAAATTTATCATCTGAATCGACTGGTTTAAGTGCTGTAAGTTTAAAATAAACGCTGGATTTCCAAAACTTAACAGGAAAAAATAATGTAACTCTCTAATAATTTGTTATCCTGATTACATGTTGAGATAATATTTTGTACATGTTGGGTTAAATAAAATGTTATTAAAATTCATTTACCCTTTTTTTTAACTTTTAAAACTTGTGGCTATTAGAAAATGTAAAATTGTATTTAAGGCTCGTGTTACATTTCTATTGGACATCGCTGGTCTGGAAACGGCCGAAGGTTGTAACTAAGTCACAAACCATGCTCAAGGATACCTGTGTTTCACAGCTACCTCCCTCACATGCTAATGTTCTTGTTTCTGGAAGTCTCTCCTTTGTGTCCTCAAAGGAGACATCCAACCACACCTAGACATTTACCTCTGTCTTCTTTTGTCATTGGAAATCTAGGTACTTTTCTCGGAAGCACAGAAATCAAGACTGGGACCTATGGCATGAAAGTAGGAGATACTAAAAGAGTAAAAAAGAAACCTTATCTAAATCTTTCCTAGTTTAACCTAGAATAATTGATCATCCAGCATTTGCCTGAGAGAGATAATTACTGGTCCTACACCAAGACAGATGCTCAGGGTAGCCCCATTTTGACTTGCAAAGCTTGTACACCCAACAGCACTCAGGAAAACCTGTCGAGGCCCACATAAGAACAGAAAAAGAAAAAGTTTCCTTACATACATTTCTTGCGTCGTCCACAAAAATGCTGCTTTTGCAACCTTCGATGGTGATACTCTGTCTCTCGACTCTGAGATGCATGGGGAATGTGACTTGGGGAGTAACCAGGATAATTCCGGCCAGAGCCGGGGTAGCCACGGTACCGCTGGATCTTCTCCTCTGCTGTCCTTTTGTACGGTACGTGAGGATGGTGACCCGCAGGGGAGCTGTAGTTGTGTTCCTGGGCCAGAAGCTGAGGTAATGGCGAGATGAGGAATTCATTTTTTCGTGTCCTTATTAAACCTGACTAAAAAGCCAAACACAAAGCAAACAGTCATGATTCCATGCATCCCTGTGCCAAGGGTTGGTTTTCAACAACTGCTTCTGACTAATTCCTGTATGTGGGCACAGGAGCTAAAAGCTTCACACATATTGCCTCATTTTTATCTGCACCATTACAACGAGTTGCTATTATTATTGAGACAGGTCTCACTTTAAAACCAAAGCTGGAGAGCAGTGGCACAAACATGGCCCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCAGCTCAGCCTCTGGAGTAGCTGAGACTACAGGCACGTGCTACCACGGCCAAATCACTTTTACACTTTTTATAGAAACAGGGTCAATGTGGCCCAAGCTGGTTTTGAACTCTTGGCCTCCCAAAATGCTGGGACTACAGGTATGAGTCACCGTACCTGGCTGGACAAGTTGCTATTATCACCACCCCCATTTACAAAGGAGAAAATTGAAGCTAAGATAGTAAGTAGGAAAGCTAGCATGGGCACCCAGAGTTCTCTACTTTCAGAGGCAGGGCTCACAACCACTGGGCTGCCAGCCCTGATGTTTGTGCCTGAAGGGCTGAGCCATGGACATTCTGCTGCATTGCATTTATGACCTGGCAGATGCCATGTTCACCACTGGATAGAGTGATGAATATAAAAATACCCCCACTCATTCTCAAGTGGTTCACACTTGATTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGATTAGGTTTCATTCTGTCCCTTAGGTTGGAGTACAATAGCACTATCATGGCTCACTGTAGCCTTGACCTACTGGTCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTACACACCACTATGCTCAGAAATGCGGTCTATATTGCCCAGGCTCGTCTCAAACTCCTGGCTTCAAGTGATCCTCCTACCTCAGCCTCCTAAAGTGCTCAGATTACAGGTGTGAGCCACCAGTTCTGGCCCATCTTGATTCACAGTTGCTAAATCAATGTTTTTAAAAAAAATCAGCAAGGATGGCAGAGAAAGGCATGAGTGATGTGATCTCTAAGTGGGGGTCTAGAGAATCTGATGAGTGGTGCTATAATGAAGAGACATATTTACCAAATCAAGAAGAAAGGGGAGACCCTGGGAAGCCCATTTAATCACAATTTCATTTACCAAGTTGATGGCACAGTATGGATATCTTCGTACCTGATTTTGCAGCCAAGATGCACCCTTGTCTTTCTTTCAGCAAATGTTGTACTCTATCTTCTCTAGATATCAGAGTTCCCTGATACCCAAGACCCTGCTGGGGAAAGTGTAATCTGCAGACTAGTAGCTTCAGCCTCACCCAGGAACCTGTGGGATTCAGAATCGTGGGCCTCACCCCAAACCTGCTGGATCAAAGTCTATGCTTTATTGATATCCTCACATGTTTATGGGATCCTTTTTATTTCTGTGGTATCAGTTATGTCACATTTTTCATTTCTGACTTTATTTTAATCTTTTTTTCATAGTCTAAGCTAAAGATTTGTCAATTTTATCTTTTTAAAAAACCAACTTTTTGTTTCATGAACTTTTACATTCTTTTTTCAGTCTAAATTTCATTTATTACTGCTTGGATCTTTATTATTTCTTTCCTTTAATTAATTTTGGGTTTAGTTTGTTGTTATTTTTCAAATTCCTTGAGGTGCAATATTAAGTTGGGTTATTTTTGGGATCTAATTTTGGATGTAGGTGGTTAACGCCAATGAATTTGAAAACTAAGAAAGAACAGAGAAATCCTGGACAAACACAGTCTACCAAAACTGAAACATGAAGAAACAGAAAATCTGAACAAACCAATAACGAGTTAAGGAGATTTAATCTGTAATAAAAAGTCTCCCATCAAAGAAAAGCCCAGGGCCAGATGGCTTCCCTGATGATTTCTATCA
Task1_train_22930
Chromosome 16 houses a mutation in gene WWOX (WW domain containing oxidoreductase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal recessive spinocerebellar ataxia 12
TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCCTGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
Task1_train_22931
Given this variant in gene WWOX (WW domain containing oxidoreductase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 1
TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCCTGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTAT
Task1_train_22932
With a mutation on Chromosome 16 in gene WWOX (WW domain containing oxidoreductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Autosomal recessive spinocerebellar ataxia 12
AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCACGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
Task1_train_22933
The gene WWOX (WW domain containing oxidoreductase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Developmental and epileptic encephalopathy, 1
AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGATTGATTCACAGAGAACCAAACCTAAGGAATCACATCATTCATTCATTTGTTCATTTAATAAATTTGTAGGTTGAAGCATTTACCAAGTGCTGGCAATAGAAAGAAGTCCCGGGTGTGCTTTGTCAGTTTAGTCGGGACTACACAAATGAGTCAATAACTGTAGTGGAGTGATGCGATCTCAACTGCCAGGAATCCCCCGGCTCTCCTCTCTTCCTGTGCCTCTTCAGGTAATTAGCTATCCTTTCTTTCTTTTATTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTTCTTTCCAGATTCTGGACCTATTCCAGACTTACTAAAGGAAATTCTCTAAAGGTGAGGCAGTTTTTTAAAGACAGCAGCTCTCTCTGTCGTCCATGCTGGAGTGCAGTGGCCCGATCATAGCTCACTGCAGCCTCGACTTCTTGGGCTCAAGTGATCCTCCCCCTTCAGCCTCAATGAGTAGCTGGGACTACCGATGTGCACTACCACGCCCGGCAAACTAAAAAAATAATTATTTTTGGTAAAGACAGGGGTCTTGCGATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAATGTGTTTGGATTACAGGCATGAGCCACTGAGCCCGGCCTAGCTACCCTGTCTGAGTTGTGCCCACTACACAAAGGTGTCAGCTACATGTGATGTCTGTGCATTTCTGGCCTGGACCGCACATTAAGTGCTCCGTAAACATCAGTCTCTATTATCAACAGTCTCTATTATCAATCAGTCTCTATTATCATCAGTCTCTATTATCATGAGTCTCTATTAAACAACAGTCTCTATTATCACAGTCTCTATTATGTGTTTTGGCTGAAAGAAAGTTCTCTAAAACCAGGAAATCAGGAATCAGCAGTTTTAAGTTCTCCAGGTTATATTTTAACATTGTGTTCATATGCAAAACAAAGGTTGTGAATCAGCACGAATGCTGGCAAGCCCTGGAAGGTTTGTGATCACGGACTTTCACGAGACCCCAAGGCAAGGAGAGACAGAAGCCCAGGACAACAGCATGGGCGCCGCTTTTTAGTCGGGCGCCGCTTTTTGGTCAGGCGCCACCTGGACTACATTTCCCATATCCAATTGCCGGGCTCCTGCAGGATTGGCCAGAACAACGCGGAAGTGATTACGGGTCGCCCAGCAACGGGCGGAGTCCTGGCCCGAAACTGGATGCGCACGCCCCTTCCCTGCGGCGGGGAGGCTGACAAGGCTCCGCTCTATCTCTAGCGCCTCGGAGCGCTCTCCGGCTTTGCTGTCTAGCCCGGCGGCAGCGCGATCTCTTAGGCACTTTCACCGCCTTCCTCTCCAGGCCCTGCCCCTTTGACGCCGGCCGTCGCGATATTGCGGAGACTGGATTTCAGCTTCGTGGTCGGCGGAGCGGCCCCTGGAGGGCGCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCACGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGCACATGCTCAGCTCCCTCCTGCAGGCTCTGGGTTGCAGGGATAGGAGTTTTGTTGTGTTTTGTTTTGTTTTGTCCAGACCGGTATTGCTCAGTCATCCAGGCTGGAGTGCAGGGGTGCCATCATAGCCCACTGTAGCCTCTACCTACTGGGTTCAGACAATCCTCTCATCTCAGCCTCTTGAGTGGCTGGGACTACAAGCGTGCACTACTATGCCCGACTAATTTTTTAAGTATTTGTAGAGACTAGGGTCGCACCATGTTGCCCAGGCTGGTCTCGAACTACTGGGCTCAAGCAGGCCACCTGCCTCAGCCTCCAGAATTGAGATTACAGGCGTGAGCCACTGCGCCTAGCCAGGAGTATTTTTTAGTAGCAGTCCTAGATAGCTTCACTATCATTTCCTGGGAAAGTTTTGGAAACCCCAGCAGAGCCTTCATCTTTAACTGTGTGACCTTGGGCCATTGAAATAACGTTTAATCTTGGTTTTTTCACCTGTAAAATGGGTTGATACGAGGGTCAGTTCAGGCACTGTGCGTAAAGCACATAGCACCGTGTCTAGTAGGTACTCTCTGTTCCTTAACTGTCGTTCCTTGATTGCTCTTAAGATACGACAGTGCCTCTTATATCGGCACCTTAGAATCACCTAGGAAATGTCCTAAATACACGTTTTGGGTCTCCATAGAGAACCTACTGTAGCCGACTCTCAACTTTGGGAGTCTCTTTTTTTAAGCTTTCCAGGTGAGGTGGAATATCACCTGGTTTTGAGAAACATGGATGTAAATCTGATTTTCAGCATCTGGGAAACTTTTTTTGTAAGAGCCTTTTTCTGGGCCCCACTTCCAGAGGGTTTTTCTTTTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCTCCCGGCCTTTTTTTTTTTTTTTTTAAAGACAGGGTCTCGCTCCGTCGCCCAAACTGGAGTGCCGTGGTGCGATCTCGGTTCACTGCAACCTCTGCATGCCGAGTTCAAGCGATTCTCGTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCGCCACCAGGCCTGGCTAATTTCGCGCTGTTGGCCCGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCCCCCAAAGTGTTGGCATTACAGACAGGAGCCACTGCGTCAGCCCAGAATTTCTGATTTAATTGGTTTGGCCCCTCCCCTCTCCCTTGGTAGGTTGTAAAATCTTCCCTCCCAGGTGATTCTAATCTATGCAAGGATGTGAACCACTGCTGCCTTTGGTGGCAAGGTAGAGGAAAAACAACCAAGTTCTGATGAGTTCATTCAAGACACACACAGGTATTATGTGACAGGCCTTTGGCTGGCACTGGTTATA
Task1_train_22934
A genomic change on Chromosome 16 affects WWOX (WW domain containing oxidoreductase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Autosomal recessive spinocerebellar ataxia 12
GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTA
GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATACAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTA
Task1_train_22935
Gene WWOX (WW domain containing oxidoreductase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 28
AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTAT
AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCTTTTTTTTGCAAGTGATATTGGATGGTGGTTGATGTACAAAGTAGGAGTTTGTCCTTGCTACTGATACCGTAGCTGGTACAAGGTTTTAATCGTTCTCCAAGCACTGTCACAGGTGTCATGTGTCTCGCCTTTTCAGCAGCTCTGTGAGGTGGCAGTAGCCCTGAGGAGACTGGCTGGACTCAGCTAGCATGGGCTGCTCAGGTCTTCAGCGTGCTGAGTGAGGCATTCCTGCACTATGACAGAGACCCAGCTGCCAAGACTTTGTCAAACAGACCAGAAGCCAGCAGTTCATGAAAAGACCTTGCTTGCAAGTTGTAGAATTTTTTAGAAAATTCGTGCTCTCTGTATTTATTTTCTGTAAAATAATTGATAGGGAAAGAATGTTCACATCTTATCATCTAGATGTTGCTGATTAAATAATATAACTTTCTGGGTTGGCATGAGTAGGTGAACTTTTAGGAAACGCAGCCTACCCTTCGAATACCTCTTGTAGCACCTGGCTGTTTCCCTTTTGAAATAATTGTATGTTTTCCTGGATACCTTATTACCTGGTGACACGTGTTTCTAGTTATTGACCTATGTTTTTAATTATAACTTTGGGTGGTGGTCTGAAATGAAATGTTAAGTTTGACGCAAAAATAGGACTAGTTTGTGTAACTGATTTGTTCAGAATAACAGCTTACATTTCTCAGAGCTTTTTGTATGCCAAGTGCTATGCGAAACCCTGGATGTACAATATTCTTATAGTAGCCCCTGAGACCAGTGCTAGGATTATTTCCATTTTGCAGATGAGGGGATGGAGATTAAGGAGTGGGGTCACTTGACCAAAGGTGCACAGCGCACAGCTAGATGCCCTATGGGAAGGTCTTACTGCATCTCTTAACTACCTCTTGGGACCAGTTAGGAACCAGTGCTTAATGAAACACTTTGAAGTTACATCTGTGGAAAGAATAAACATTTTAGCTGGGCAAGGTGGCACGGGCTTCTAGTCCCAGCCACTCAAGAGGCTGAAATAGGAGGGTTACTTGAGTCCAGGAGTTCCAGTCCAGCCTGGGCAACATAGTGAGACCCTGATTCTTTAAAAAGAAACACAAATAAATAAACATTTTAAGAGATTATATAAATTAGATATTATGAATTTTGTCCCTACATCGTGGAATAAAACCAAAACAAATACACAGCAAAATGCCTCTAGATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAACTTCTGCTTCCCTGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTGTCCCCAGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCTCCCCTAGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCTCCCGACGGCCTCTAGATATTTTGAGTGATTCAGCAAACCTCCTAAAGTTGACCCCGTAGCTGGGGTCACAGTCCTCTTTCTCCTTCTTCCCCCTACTTCCTTCTTATATCTGGCTATCTGGGAGAGAAAAAATTTAATACAATTGATTACTTTTTAGAAGAGTTAATTTTTACTTATTACTGTGGATTTTTTGTTTTTTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCGAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCTAAGGATCTTGGATGGAAGCATTAAGTAGATGAGGAAATGTCACTGGCAGAGAGGTGACAGGTTATTGTGTGTTTAGGGAGGGCTCTCTGGTAGAGAACCAGACTCCCACTCTGAGGAGCTTATGGGATTTGGCAGAAGAAGATGATGAGATCATAGGGTGGAGTGAGGATGATTTCTTACTGGTCTTAAAGTACCAAAATGGCCAGATGTGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGATGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGTTGAAAGCGCATCTCTTCTAAAAATACAAAAATTAGCTGGGCATGGTTGCATGCGCCTGTAATTCCAGCTACTTTGGAGGCTGAGGCACGAGAAGTGCTCAAACCCAGGAGCTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCGCTCCAGCCTCGGTGACAGAGTGAGATGCTGTCTGAAAAATAGCGACAACAACAACAACAAAAACCAGAAAATAATTGAGGCCTTTGATTCACAGTTTATGATGTTTTCCTATCGTTGCAGTGTTTATAAAATTGTTCTTGGCTATACTATGGAATTAAATATATAAGTATTTGGAAATTTCGTAAAGATTACCATGACTTCTAGGTGATTCTGAGATAATGTATGATCCACGGAATAGAAGTATAAGAAAGGGACAGGCACGGTGGCTTGTGCTTGTGATCCCAGCCCTTTGGGAGGCAGAGGTGGGAGGATCACTTGTGCCTGGGAATTCGAGGTGAGCCTAGGCAACATAGTGAGACCCCATCTCAAAAAAAAATATGAGAAGGTTCCTGCCCTTAAGAGGTTTAGGATCCAGCTGAAGAATCAACATGTGCACATGAAAAAAAATGGCCGTGCCCTCTAATGTCATATGAGGTCAGCGTATGAATGACGTTGGGTGCCTGCCCTGCATATACATATGTTCTTTGAGCTCATTCAAGGGAGAATTCCCATGGATTGGCACAACCAGTATGGTTTATAGAGCGATCAGGAATAAAATAGGTTTTCTTCAAAACAAGAGGCAAAAATGTGGAGCCCAGGGTGGGATCAGGGGCCTTCTGCAGCTGTCGCAGTTGGAACATGTGACGAAAGCCAGTTGATGTGACAACTGCTGGGTGGGAGGGACAGGCTTGGGGGCGGGGCTGGGAGGGCTCCTTCCCTTCCTGACCCAGGGATGGTCTTTACTTCTCCCTGGCACCTGTAGACCTGTCTTTCTTGTGTTTCAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGAGTAAGTGTCTGCAAAGAAACCACTCTCAGCTGTTTTGCTTTTTAATAGGAATTTTTAATTATAAAAGTAATACATAGTAACTGTAGAAAAATACAAAGTATAACAGTGTGTATCTGTAATCTTAGCAGAAGTGACTACTTTTAACATCGCTGGAACTTTTAACATCGCTAGATTTATTCTTCTATTTTCCCCGCACACGCATCCTTAAAAAAAAAAAGTAGGGAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGTGGGTGGATCCTGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATATAAAAATGAGCTGGGTGTGGTGGCACGTGCCTGTGGTCCCTGCTACTCGGGAGGGTAAGGCGGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGGAATGCACTGTGTGGACTGTTTAGTAACCTGCTTTTTCCATGTAATATATTATGAGCATTTTCTTGTATCCATATCTATTTTTCAAAAAGATGCTATTTAGCAGCTCTAGAGTTATTATTTTGTACAGATATACTAT
Task1_train_22936
A change on Chromosome 16 affects gene WWOX (WW domain containing oxidoreductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Malignant tumor of esophagus
GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGAACTTATAGAAGCAGAATATGAGGGGTCCTTTGACAAACATGAGACTGTTTAGAAAATTCCTTTTGTTTGCTGTGATCCATTTTGTAAGGGAAGTCACTATAATGTTGTTATTTAAGAGAAAGAGACAAACGGAAAGAAACAAACAGCTGGTGTTTAACGACTCCGTCAGACCCAATTATAAAGCATCAACTAGTTACGTTGATTTGTGTACATCCATGCCATGGGTATACTTAAAAACATTAGATTTTGCCAGAACTCATCTTGGCTTTGTTTACATTTTTCTTTTAAACGTATAAGACTATTGATGGTACCTCACCAAGGTTATAACCCCTTTATAATCATTAATTTTTAATCTAGAAAAGAGTCTTGGAGACAACAAGACTCATCTATAATTTCTTGGATGCTCAAATGAAAATATACAGGACTCAAGCATTAGCTAAAATAATCCAGGAAAGCCCTGTCAAAGGTTAGGAATGTGATATCTTTCTGTTTCCAAAAGCAGCAGCCCTTTATTCAAGACACTTTTCTGTTTAATTTAATTATCTTTGAACTTCCTGTTGAAGGTTTTGAAAAATATATGTTAGAGGGTGGGGAGAGAGTTCAGTATGTCAGGACTGCTACATTTATGAGTGTGGGTCTTTATTGAAGTCTCTCTTTGTAGCCAATCCTTTTTTTTTTTTTAATTTTTAAATTTTAAATTCTTACTTTTAGATATGGGGGTCTCACTCTGTTGCCCAGGCTAGAGTTCAGTGGCACAATCATAGCTCACTGCAACGTTGACCTCCCAGGCTGAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACCACAGGCATGTGCCAAAATACTCAACTAATTGTTTATTTTTTGTAGACATGGTGTCTCCCTATGTTGCCTAAGCTGGTCTTGAACTCCTACACTCAAGCAATCCTCCCGCCTCAGCTTCCTAAAGTGCTGGGATTAGAGGCATGAGCCACCAGACATGACCTGTGTTTATATTGTTAAATCACCATTGTCAATCTTGAAAGGAGACTTTGTTTTGATGTATGTAAGATTGAGTTTTTACTCATCTCTACATAGTTTCCTCAGATTGCTTTTTTTTTTTTTTGAGACCGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTCCCATGTTTCAGTGATTCTCTTGCTTCAGATTCCCGTGTACAGGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACTCGTCTAAGACTCCCAAAGTGCTCGGATTACAGATGTGAGCCACTGCACCCAGCATTCCTTAGATTTCCAATAAAAATAAAAAGCTGTGTGGGAAGTCAGAACTTGGTTGCTTCATGTCATATTTCCTATTTTTAAGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATGGTAAGAGAACAGCTTCTGGCGCCGCAAACACCTTGGGTCCTAGAGAAACCTGCACACTTGTGTCTCCACCTTTTTACCTCTTGCGGGCATGAGTCTGGTCTCAGTAATAACATTGTCCAGCCCATCATAAAGGGCTCTTGAACACATTTTCATCAACTTTAGGTTAAGTCTGTTTGGGTAAATGCGTCTTGGAGGGCTGGGTAGAAGATGTGGGTTTCAGTATCATGTTAAGTATGGCTGAAAGTCCTTATGGAAATGGTGATTTTTTTGTTTGTTTGGTTTTGTTTTTTTTGGGGTTTTTTATTCAGAAACTTTGAAAATCTATTTTGTTGAATGGAGCACTTGAAAACTGCTGTTTTGTGTCAGTAGGTAAACAACAAACATTGGTGACTACTGAATTTTCAGCAGATGTGATTCCTTTGTTTCACAGAAAAACTGTATCTTTTGTTCTAAATTTTTTTCTTCTAATGGGTATAATCCTCTGTTGGAGAGTCCTTTGATAGCTAGGAGTGTGTTTTCTTCTTTACTTTCCCAAAGACAATTTTGGATGAATCATGGTACTGTGGTTACATTTGGAAGTGTTTACAAAGGTGATAAGATGTTTTTATAGTTTGGTGTTCATTTATCGACCATATTAAGAACCTTCTTCTATGAAATGGTTTTAGTAGGAAGTATTTTGAATGAAGAAAGCGTATTTTCCACAATATATTTGGTAGATTATTTTTCAAAACCAAAGGACTTCAAAAATGTCTTCCTATTAGTGGACACCAGTATTCCAGTTACCCAAACTTAAAATCTACTTGACAGAAATCACCCTTTTCCCAAACACATTTGCCTTTTAGCGATATCACAGGCCTTCACAGTTGGACCTAGGATATTAATAAAACAAAGCAAAACAACAACAAAAGAAGAACTATTGCAGGCCTATTATCCTCCAGCTGATCTCACGACCTTGGAAACTGTCTGCTGCCTTCTCTTACACTCATTCCCACCTGCCACCCTTAACCTTCGTATTTGGGGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGGGATGACTTTTAAAACCACATCAAAAGTCTTTTGAAGTGCTTAGGAGGAGGTAAGTAAGTATATCTTTTATTCTAATCACCCAAGTGGTTTTTAGGCAGAGTAAACAGACATATTCCAAGAGTCGAATACTTAGGATCAGTGGCAGTGAAGTGAAAGGACCTACGGAGAATGGTGTTCCATGCCGCAGGGTGGGATTGATCTCTAGGAAGTAAATGAATGAAACTTACCTGTAGGTGGATCACAGGGTTTTGAAATCTCCCCATCACTTTGCTCCCGATGACTGCATAAGCGCAGCCTCTTCATGAAAGTTTCTTTGACCATGGTTATGCCTCATACTTTGTTGTGTCCTTCAGTTTACATGAAAAGAAGGAATATGGATCTGAACTGGGTGCCAGTGCCATTTAAATGAGGCATTTAGGAATGGGGAGAGGAGAGAGGTGGATTCTTCCTTATTTTCTGCTGGCCCAGTGCCTTCCGCTTTAACAAGCCCAGTCAACCATCATTTGTAATCTTTGGGTCTTGAGTCATCTCACTTGTATTTGATCATTGATGTGTTTTAAGGAGCTCGGTTCAGTGGCATCAGAGAGTTCGTTTTCTCCTTCTTCCATAAGGTCCCTAATCAGAGGAACGGGATGGGAAAGCTTTAGAGATGAGTCTGTGACTATGGAATTTGGTGAGGGGTGATATAACCATCCTGCCATTTGTTG
GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGAACTTATAGAAGCAGAATATGAGGGGTCCTTTGACAAACATGAGACTGTTTAGAAAATTCCTTTTGTTTGCTGTGATCCATTTTGTAAGGGAAGTCACTATAATGTTGTTATTTAAGAGAAAGAGACAAACGGAAAGAAACAAACAGCTGGTGTTTAACGACTCCGTCAGACCCAATTATAAAGCATCAACTAGTTACGTTGATTTGTGTACATCCATGCCATGGGTATACTTAAAAACATTAGATTTTGCCAGAACTCATCTTGGCTTTGTTTACATTTTTCTTTTAAACGTATAAGACTATTGATGGTACCTCACCAAGGTTATAACCCCTTTATAATCATTAATTTTTAATCTAGAAAAGAGTCTTGGAGACAACAAGACTCATCTATAATTTCTTGGATGCTCAAATGAAAATATACAGGACTCAAGCATTAGCTAAAATAATCCAGGAAAGCCCTGTCAAAGGTTAGGAATGTGATATCTTTCTGTTTCCAAAAGCAGCAGCCCTTTATTCAAGACACTTTTCTGTTTAATTTAATTATCTTTGAACTTCCTGTTGAAGGTTTTGAAAAATATATGTTAGAGGGTGGGGAGAGAGTTCAGTATGTCAGGACTGCTACATTTATGAGTGTGGGTCTTTATTGAAGTCTCTCTTTGTAGCCAATCCTTTTTTTTTTTTTAATTTTTAAATTTTAAATTCTTACTTTTAGATATGGGGGTCTCACTCTGTTGCCCAGGCTAGAGTTCAGTGGCACAATCATAGCTCACTGCAACGTTGACCTCCCAGGCTGAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACCACAGGCATGTGCCAAAATACTCAACTAATTGTTTATTTTTTGTAGACATGGTGTCTCCCTATGTTGCCTAAGCTGGTCTTGAACTCCTACACTCAAGCAATCCTCCCGCCTCAGCTTCCTAAAGTGCTGGGATTAGAGGCATGAGCCACCAGACATGACCTGTGTTTATATTGTTAAATCACCATTGTCAATCTTGAAAGGAGACTTTGTTTTGATGTATGTAAGATTGAGTTTTTACTCATCTCTACATAGTTTCCTCAGATTGCTTTTTTTTTTTTTTGAGACCGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTCCCATGTTTCAGTGATTCTCTTGCTTCAGATTCCCGTGTACAGGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACTCGTCTAAGACTCCCAAAGTGCTCGGATTACAGATGTGAGCCACTGCACCCAGCATTCCTTAGATTTCCAATAAAAATAAAAAGCTGTGTGGGAAGTCAGAACTTGGTTGCTTCATGTCATATTTCCTATTTTTAAGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATCGTAAGAGAACAGCTTCTGGCGCCGCAAACACCTTGGGTCCTAGAGAAACCTGCACACTTGTGTCTCCACCTTTTTACCTCTTGCGGGCATGAGTCTGGTCTCAGTAATAACATTGTCCAGCCCATCATAAAGGGCTCTTGAACACATTTTCATCAACTTTAGGTTAAGTCTGTTTGGGTAAATGCGTCTTGGAGGGCTGGGTAGAAGATGTGGGTTTCAGTATCATGTTAAGTATGGCTGAAAGTCCTTATGGAAATGGTGATTTTTTTGTTTGTTTGGTTTTGTTTTTTTTGGGGTTTTTTATTCAGAAACTTTGAAAATCTATTTTGTTGAATGGAGCACTTGAAAACTGCTGTTTTGTGTCAGTAGGTAAACAACAAACATTGGTGACTACTGAATTTTCAGCAGATGTGATTCCTTTGTTTCACAGAAAAACTGTATCTTTTGTTCTAAATTTTTTTCTTCTAATGGGTATAATCCTCTGTTGGAGAGTCCTTTGATAGCTAGGAGTGTGTTTTCTTCTTTACTTTCCCAAAGACAATTTTGGATGAATCATGGTACTGTGGTTACATTTGGAAGTGTTTACAAAGGTGATAAGATGTTTTTATAGTTTGGTGTTCATTTATCGACCATATTAAGAACCTTCTTCTATGAAATGGTTTTAGTAGGAAGTATTTTGAATGAAGAAAGCGTATTTTCCACAATATATTTGGTAGATTATTTTTCAAAACCAAAGGACTTCAAAAATGTCTTCCTATTAGTGGACACCAGTATTCCAGTTACCCAAACTTAAAATCTACTTGACAGAAATCACCCTTTTCCCAAACACATTTGCCTTTTAGCGATATCACAGGCCTTCACAGTTGGACCTAGGATATTAATAAAACAAAGCAAAACAACAACAAAAGAAGAACTATTGCAGGCCTATTATCCTCCAGCTGATCTCACGACCTTGGAAACTGTCTGCTGCCTTCTCTTACACTCATTCCCACCTGCCACCCTTAACCTTCGTATTTGGGGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGGGATGACTTTTAAAACCACATCAAAAGTCTTTTGAAGTGCTTAGGAGGAGGTAAGTAAGTATATCTTTTATTCTAATCACCCAAGTGGTTTTTAGGCAGAGTAAACAGACATATTCCAAGAGTCGAATACTTAGGATCAGTGGCAGTGAAGTGAAAGGACCTACGGAGAATGGTGTTCCATGCCGCAGGGTGGGATTGATCTCTAGGAAGTAAATGAATGAAACTTACCTGTAGGTGGATCACAGGGTTTTGAAATCTCCCCATCACTTTGCTCCCGATGACTGCATAAGCGCAGCCTCTTCATGAAAGTTTCTTTGACCATGGTTATGCCTCATACTTTGTTGTGTCCTTCAGTTTACATGAAAAGAAGGAATATGGATCTGAACTGGGTGCCAGTGCCATTTAAATGAGGCATTTAGGAATGGGGAGAGGAGAGAGGTGGATTCTTCCTTATTTTCTGCTGGCCCAGTGCCTTCCGCTTTAACAAGCCCAGTCAACCATCATTTGTAATCTTTGGGTCTTGAGTCATCTCACTTGTATTTGATCATTGATGTGTTTTAAGGAGCTCGGTTCAGTGGCATCAGAGAGTTCGTTTTCTCCTTCTTCCATAAGGTCCCTAATCAGAGGAACGGGATGGGAAAGCTTTAGAGATGAGTCTGTGACTATGGAATTTGGTGAGGGGTGATATAACCATCCTGCCATTTGTTG
Task1_train_22937
This mutation is located in gene MAF, WWOX (MAF bZIP transcription factor| WW domain containing oxidoreductase) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Developmental and epileptic encephalopathy, 28
AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAAAAGAAACAGCTGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTCTGCCTTATGGCAGATTCTTCACGTCGTAACACCTTCCTTGGGACCCTATTTCTCAGTATGGACCTGACTCTCCCAGGGATCCTAGAATGCAAGCATAGTGATTGCAAACCAGACCATTTGAGGGAAACTCCTCCAGTAAGCACCCTGCATGGTCACAATGTAAACCCTGCAGGGGCAGAAAAATGATAAGCTTTGGGTCGGGTCGGAAAGCCATTTCCCCCACAATCAAAGTTCCTTAGTGTTTTCCTTGTGGGGGCGAGCTTATCTTCAGTTACCTTTTCCGGTCCTCTCTTGCAACCCCTCTCCCTCTCATCAGCTGAAAATTAGTGGATGCAGCTAGGGCTCTGAAACACATAAATAATCATAAGATGCCAGATAAACTGTATTGGTTTTAAATTAGAGACGTGCCGACCATGTCTCCCTCTGAACAGCAGCCTATTATTTTTAATTATGGCTTGCAAAGCAAAGTGATTTCTTGCCCTCTTTATAGCATCCCTGACAGTATTCTGTCAGTTTGGATGATATGATGCCTCATCACTGCACACGTCCCTAGCCACAGCCGCAACTGTTACTCAAAAGGTGAATGAAAGTGATCAGCTGCACTCTTTGCAACTTACATTTTGAAGTGGGCTGGGAGGAAATGTACCCCCTTACCTGTGGTCCCATTGTAAATCTGGGTCAAATATGACATTTAGAAAAAGGTTTTCATGGGATCTGGATGAATTAATGTGTTATGTGTTTGTGCTAAGTATGAATGTATGGTGAGGAGTGTGTGTGTGTGTGTGTGTGTGCATTAAATGTTTTAACACAACATTGCCAACCCTTCCCCTAGCAGCACCGTGGGCAAAGCATAAAGGGATGATCTGGCAGCAGCCCCACTTGGGTTTTCTACCTGATGGACCACAATTAAGAGTGGTTGGTTTGTCAGACAGAAGGTTCTACAAACGATTTGGTATCGAATTACATTATACATGGAGAAGTTGAGGGGTTGGATGAATTTGTTCTTGCACGTTCAGAAGGATACCATCTTTTTCTCTGTGTGGAAGAGGCGCCTGCCACGACGTATTGATATGTGTATTTATTTTCCAAGCCTGTCCCTGTATGAGGTGTCAAAAGTTACACCAGCTTTACAAGCGGAGTTTATGAACTCGTTTTTCCAGGATAGTCACATTATACTTTTTACAGTCATGTGCTTTCAGCCCAGTACCCTTTGCTATGCCAAGATCCAGCTGAAACTGAACCAGGTGGGGGAGGCCTGCTAATGCCCAGGCAGTCGAAATGACGCCATCTCATCACTCCTTTTCTTAAAATTTTTTTTTGTCTTTCTTCTTGGATTTCCAGCAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCATCACCTGAAGTTTGTATTGTTTCTTTAAATGTTTGTTTCAGTTTGTTTTTGTTTTTCATTTTTTAGAAAAGAAATCTAGAGGAAAAATAAAGCGCTTCTAATAAAGCGCTTCTCGTAGATGCCAGGAAAACACGATTCTTGTTTCTTCTCTGAGTGAGTTTGTGTTTTGTTTTTGTGCTTTGTGGCTGTCCGTGGGCCAAGTTGTCTCACGCGATTAGCATGCCAGCATATTTTCTGTTAAAGAAAGAAAAAAGAAAAATGACTATTGTTTCATTTCACCTTAAGATGTTTTGTTATTACTTACTTACAGTGAGTTATTTTAGTCCTCAATGGTCTGCTCCCCTGCAATTAGCAAGTACTTAGTGATTAGCGGGTATCTCTATGTTTGAGAATGGGAGCTGTGCAGAAGCTCTTATCTGCGCATCCCATCTCATGGACACCATGATTTCCAGCCCGTTCCAGCAAGCACATGAGAAAGTCCACTCTGGCAAGACGGAGAAAATGCTTCTGCTGAAATACCAGGAAGGTGTGGAGGCTGGGTGTCATTGTTCCCCCTCCTGATCATGGCAGCTTCAGGCCAGACAATGTCTTGAACTTCTGTGCCTCTGCATCTGTGGTGCAGAGCAGTCGAACAAACAAACACCATTGCCCTCCAGTGGCCCATAGCCTTGCCACATCCTCCCATCTGGCTATAGTCTTCCTTACGTAATCCTTATTATCACAGGACCTTTGAAACTATGAATCAGATAATGTCACTTTTCAGACATTATTGTCATTTGCAAAAGCAGCCGTCAGAACTCCACTCTCAGAATCTACACCTGGAGGGGATCACCCCTCCCATATGACCTCTGACTTTGGCCATGTGACTGGCCTTGGCCAATTTGGAAAGTGCTTTGCACTGGGGCTTGCCTTTCCTTGTTGATCTTTGGAACCCTGCAACTTCCATCATAGGGAACGGCTCCTGGGCTAGCCTGCTGGATGATGAGAGACACGTAGTCACTCCCAGAACCGGCATCCAGCAGTTAGTTAGTTAGACATGTAAGTG
AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAAAAGAAACAGCTGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTCTGCCTTATGGCAGATTCTTCACGTCGTAACACCTTCCTTGGGACCCTATTTCTCAGTATGGACCTGACTCTCCCAGGGATCCTAGAATGCAAGCATAGTGATTGCAAACCAGACCATTTGAGGGAAACTCCTCCAGTAAGCACCCTGCATGGTCACAATGTAAACCCTGCAGGGGCAGAAAAATGATAAGCTTTGGGTCGGGTCGGAAAGCCATTTCCCCCACAATCAAAGTTCCTTAGTGTTTTCCTTGTGGGGGCGAGCTTATCTTCAGTTACCTTTTCCGGTCCTCTCTTGCAACCCCTCTCCCTCTCATCAGCTGAAAATTAGTGGATGCAGCTAGGGCTCTGAAACACATAAATAATCATAAGATGCCAGATAAACTGTATTGGTTTTAAATTAGAGACGTGCCGACCATGTCTCCCTCTGAACAGCAGCCTATTATTTTTAATTATGGCTTGCAAAGCAAAGTGATTTCTTGCCCTCTTTATAGCATCCCTGACAGTATTCTGTCAGTTTGGATGATATGATGCCTCATCACTGCACACGTCCCTAGCCACAGCCGCAACTGTTACTCAAAAGGTGAATGAAAGTGATCAGCTGCACTCTTTGCAACTTACATTTTGAAGTGGGCTGGGAGGAAATGTACCCCCTTACCTGTGGTCCCATTGTAAATCTGGGTCAAATATGACATTTAGAAAAAGGTTTTCATGGGATCTGGATGAATTAATGTGTTATGTGTTTGTGCTAAGTATGAATGTATGGTGAGGAGTGTGTGTGTGTGTGTGTGTGTGCATTAAATGTTTTAACACAACATTGCCAACCCTTCCCCTAGCAGCACCGTGGGCAAAGCATAAAGGGATGATCTGGCAGCAGCCCCACTTGGGTTTTCTACCTGATGGACCACAATTAAGAGTGGTTGGTTTGTCAGACAGAAGGTTCTACAAACGATTTGGTATCGAATTACATTATACATGGAGAAGTTGAGGGGTTGGATGAATTTGTTCTTGCACGTTCAGAAGGATACCATCTTTTTCTCTGTGTGGAAGAGGCGCCTGCCACGACGTATTGATATGTGTATTTATTTTCCAAGCCTGTCCCTGTATGAGGTGTCAAAAGTTACACCAGCTTTACAAGCGGAGTTTATGAACTCGTTTTTCCAGGATAGTCACATTATACTTTTTACAGTCATGTGCTTTCAGCCCAGTACCCTTTGCTATGCCAAGATCCAGCTGAAACTGAACCAGGTGGGGGAGGCCTGCTAATGCCCAGGCAGTCGAAATGACGCCATCTCATCACTCCTTTTCTTAAAATTTTTTTTTGTCTTTCTTCTTGGATTTCCAGCAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGCGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCAGTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGCTTGGTGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCGGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATGCAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATATTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTGTACTTAAACCTCCTGCTGTGCCTCGCATCCTATGCTTAATAAAAGAACATGCTTGAATATCATCACCTGAAGTTTGTATTGTTTCTTTAAATGTTTGTTTCAGTTTGTTTTTGTTTTTCATTTTTTAGAAAAGAAATCTAGAGGAAAAATAAAGCGCTTCTAATAAAGCGCTTCTCGTAGATGCCAGGAAAACACGATTCTTGTTTCTTCTCTGAGTGAGTTTGTGTTTTGTTTTTGTGCTTTGTGGCTGTCCGTGGGCCAAGTTGTCTCACGCGATTAGCATGCCAGCATATTTTCTGTTAAAGAAAGAAAAAAGAAAAATGACTATTGTTTCATTTCACCTTAAGATGTTTTGTTATTACTTACTTACAGTGAGTTATTTTAGTCCTCAATGGTCTGCTCCCCTGCAATTAGCAAGTACTTAGTGATTAGCGGGTATCTCTATGTTTGAGAATGGGAGCTGTGCAGAAGCTCTTATCTGCGCATCCCATCTCATGGACACCATGATTTCCAGCCCGTTCCAGCAAGCACATGAGAAAGTCCACTCTGGCAAGACGGAGAAAATGCTTCTGCTGAAATACCAGGAAGGTGTGGAGGCTGGGTGTCATTGTTCCCCCTCCTGATCATGGCAGCTTCAGGCCAGACAATGTCTTGAACTTCTGTGCCTCTGCATCTGTGGTGCAGAGCAGTCGAACAAACAAACACCATTGCCCTCCAGTGGCCCATAGCCTTGCCACATCCTCCCATCTGGCTATAGTCTTCCTTACGTAATCCTTATTATCACAGGACCTTTGAAACTATGAATCAGATAATGTCACTTTTCAGACATTATTGTCATTTGCAAAAGCAGCCGTCAGAACTCCACTCTCAGAATCTACACCTGGAGGGGATCACCCCTCCCATATGACCTCTGACTTTGGCCATGTGACTGGCCTTGGCCAATTTGGAAAGTGCTTTGCACTGGGGCTTGCCTTTCCTTGTTGATCTTTGGAACCCTGCAACTTCCATCATAGGGAACGGCTCCTGGGCTAGCCTGCTGGATGATGAGAGACACGTAGTCACTCCCAGAACCGGCATCCAGCAGTTAGTTAGTTAGACATGTAAGTG
Task1_train_22938
A variant was discovered on Chromosome 16, affecting MAF (MAF bZIP transcription factor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Cataract 21 multiple types
TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTG
TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACGGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTG
Task1_train_22939
This sequence variant lies in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Cataract 21 multiple types
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
Task1_train_22940
Given this variant in gene MAF (MAF bZIP transcription factor) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Ayme-Gripp syndrome
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
Task1_train_22941
A mutation found in MAF (MAF bZIP transcription factor) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Cataract 21 multiple types
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCAGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTG
Task1_train_22942
An alteration has been detected in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Cataract 21 multiple types
AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTT
AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTCTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTT
Task1_train_22943
Gene MAF (MAF bZIP transcription factor) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Cataract 21 multiple types
ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCTGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
Task1_train_22944
This is a variant in MAF (MAF bZIP transcription factor), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Ayme-Gripp syndrome
ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCTGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGC
Task1_train_22945
Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cataract 21 multiple types
CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCAT
CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGCGTCATTCTTATTAAAAAGAAAACATTAAGAGTTCTTCAATGTTTGCCAGGTTAAATGTGTAACCCATTCTGGTATCTTTGACAAGGAATGCCTTCAGTGCATTGGGAGGTTGAAGTTCTGAGTAACTCAAAGCAGTTTTGGAGCAGATGCAAAATTTCATGGGAAGAAGGCTCTACGGTTGCACTGTTTTGTTCTAAACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCGGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCAT
Task1_train_22946
Given this context: Chromosome 16, gene MAF (MAF bZIP transcription factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not provided
ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTA
ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCCTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTA
Task1_train_22947
Here is a genetic alteration in MAF (MAF bZIP transcription factor) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Ayme-Gripp syndrome
AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGAGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
Task1_train_22948
Chromosome 16 houses a mutation in gene MAF (MAF bZIP transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Ayme-Gripp syndrome
AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGTGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCG
Task1_train_22949
This gene mutation involves MAF (MAF bZIP transcription factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGAC
CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGATGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGAC
Task1_train_22950
This variant lies on Chromosome 16 and affects the gene MAF (MAF bZIP transcription factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Ayme-Gripp syndrome
ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACT
ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGCGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACT
Task1_train_22951
Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Ayme-Gripp syndrome
AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCGAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACTTGATCGTGGCA
AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTTCATCTCGGAAGAGATGGGTTGAGAAGGAGTGAGGGTGGAGGTTGGAAAAAAGGTGGGCAACACAGCAAGCTCTAAAAGTAAAATTAAAAAAAAAAATCCAAACAAAATAAAACACACACACACACAGAAAATGAACACCAGTTCATGAACTGAAGGGGAAGAAGAAGAAAAAATATGTGAATGATGCAGGCTTCAAAGGTGATCAACGTTTCACATGAAGAACTCTGCTGAGATCATTGAACATTGTGCAAGTCCGGGGGTGGGGCGGGGGGGTGTAAAAAAAAAAAAAAAACAAGCTAGCAAGTTATGGAGAATTTCAGATTGGCAATCCATGAGCCAGACACCCATTCCCTCCCCAGTTTAAAACAGCCACCACCACCACAAACTCGAGCAGGGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGCGTGCGGGTTTGTGTGTGTGTAGGGGGCCAAGGGGGCCAAACTCGGTGGGGGTGGGGGTGGTGAGGTGGTGGCGAGCATGGCTCTAGAACTAGCAAGCCCACACCCGAGCCGGACCCCCGCGGAGCACTTATCAGGGTGGCTAGCTGGAATCGCGTGTCAGACTCACATGAAAAACTCGGGAGAGGACGGGTTGTCGCTGCTCGAGCCGTTTTCTCGGAAGCCGCTGCTCACCAACTTCTCGTATTTCTCCTTGTACGCGTCCCTCTCGCGCACCAGCCTGGAGATCTCCTGCTTGAGGTGGTCGACTTGCTGCAGCAGCTGGTTCTTCTCCGACTCCAGGACGTGTCTCTGCTGCACCCTCTTGAAGCGGCAGGACTGGGCATAGCCGCGGTTTTTCAGGGTCCGCCTCTTCTGCTTCAGCCGGATCACCTCCTCCTTGCTGACCCCGCGCAGCTGCCGGTTCAGCTCGCGCACAGACATGGTCACCAGCTGCTCGTCGGAGAAGCGGTCGTCGAAGTGCAGGCCGCCGGCGGCGTGGTGCGGGTGCAGGGCGCCCCCCGCCCCCGCCGCGCCCCCGCCGCCTCCGCCGCCGCCGCCGCCGCCGCCGCCCCCAGCGCTGGCCGGGCCACCGCCGCCCGCGCCCCCAGCGCCACCGGCCGAGGCGGCCGCGCTGCCCGCGGCGCCGGGCGCGCCGGCCGTCGGGTGGTGGTGGTGGCCGGCGGCGTGGTGGTGGTGGTGGTGGTAGTGCGGGCCCGCGCCGCTCTGCGCGGCGGCCGCGGCGATCACGGCGGACACCACGGCGGCGGCGGGGCCCATCTCCTCGCCGCTGCCGCCCAAGGAGGCGCCGGCACCGGCCCCGGCCGCCGCGGCCAGCTGCTGCGCCCCGCGCGCGTAGCCATCGAAGCCGCCCTGGAGCTGGTGGCTGTTGCTGATGAGCGCCTCGACCGCGTCCTCGGGGCTGAAGCCCAGCGCCTCGGGGTTCAGCTGCTGCGGGTAGCCGGTCATCCAGTAGTAGTCTTCCAGGTGCGCCTTCTGCTCGCTGCCCGAGCCCGGGCTGGGCGCCGAGAAGCTGGGGGAAGGGGGCACCGAGCTGCACGGCGTGCTCATGGGGGTGGAGGACAGCAAGCCCCCGGCGATGAGACGGCCGCACTGGCTGATGATGCGGTCGGTCTCCACCGGTTCCTTTTTCACTTCAAACTTCATCAGATCGAAGTCATTAACATATTCCATGGCCAGGGGACTGGTGGGCAGGTCGGAGTTGCTCATTGCCAGTTCTGATGCCATTCTCCTGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCCAGATGGGCTGCAGGAGAGGGGCCAGCGGGCTGTGCTGGGTGGCCAGCGGGTGAGCCAGCTTGCCGGGCTGGGGCGCTTCTAGCTTGCGCGGCGGTGGCTGGCCCGAAACCTCCGAGCGCGCTCACACACACACCCCCCCGCCCTGCCCGCGCCCCCCGCGCCCGCCCTCCCTCCCCCCTGCTCACGCCAATGTGCTCCCTCGCTCGCCCCGGCCCCTCCTTGCTCGCTCGCCTCCTTGCGCGCCGAGCCGGCGGCTTCAGGCTCGGGAAGATCCTCCGCGAGCTGCGGTGGCGGCGGTGGTGGCTGCGGCGGCGAAGCTGGAGGAGCCCGGCCCGGTGCGCGGCGTCCCCCGCTCGCCGCTCCGCTGCGCGCTTTGCATAAGGAAGGGCTCGCCTCGCCGGCCCGGGCTGCAGGCAGGGCGCGCGCGGCGTCCGCTCGGGGCTGGAGGCGCGGCGGGCGTCTGTCCGGGCGGCGCGGGCCTTGGCACGGGGGAGTTAACACTTCATGCTTCTCGCCTCCTCTTCTGCTTGGCTCTCTTTATTATTTTTTTTCTTTCCTCTCTCTCCCTCGCGCGCTCTCTACCTCTGTGCAAAGTGCAAGGCAGAGGTGCAGCCCGACTGGAGGAGAGGGAGGGGGGAGTTTAGTTCTTTCTTGCCTTTTTTTAAAAAAGCAAAATAGCGAAGTCCTGGGGAAAGACGAGGCAGAGAGCAAAGGGGGGAGGGGGAGGCCAAGCCGACAAGCAGCCCGAGCTACAGCTAGAAGATGAAAAAAGATTTTAAAGCCTCTGATCCAGCAAGAAGAGTTTAAAGCAATTGCTGAGTTTTATAGCACTCGTGACGTCAGGTCCAAATGAGAAATTGACTGGCACTCCGGGCCAATGGGAGGCGGCGAGAGCGGCCGCGATTAGCATAATAGTATAGAAACAAGGAAACTTTTCGGAGCTGTCAATCAGGGCCCAATCAGCTGACTGTCAGCTGGGACGGGCTGGCTTAACCCTTCCTGCGCCGCTGCCTACCCGGGAGGGAACGAGGCCCGGCGCAAAGTTTGGTGTAAGAGGGGAAGGAGTTTTTCCAGAGGGGCTTCGGCAATCCGGGCGGACCTGGGAGGGCGGTTTGCTTTTCTTTGGAGCGCGAGACAGGCCTCCCATCCGGAGCCCCAGCTCGCTGGGGGCTCACTCGGCTGGGATTGGCCTGATTCCCCTCCCCTGCCTGCCCTCCACCCCCAGGATTGTGAATTCGCCTCCCAGCTTTTCCTCCTCGCACCAACTCTGGTACCCAGGTGTCTGCCGGGGACCTTCCTTCCCTGAGCCTGGCCGTGCCCGGCGCTCAAACTTGGCCCCAACTCTTTGTCCGTCTCTCGGGCGCCCGTGCGGGGAAGGGACCGGGAAGGGAGGGATGCAGTGGGGTGTCCGGATCGGGGCTGCGGGCTGGGCGCCGCCCGGCCATGCGCCTGCCCAGAAGGCTGGGCATCCGTGGAGAGGGAAAGCCCATTTTATCCCTCTCTTTACAACGAGGTAAAATAAGTTGTTTAGAGGCCATTCTTCACGGAGACCGGCTGCCCGCTGGCGTCGCGTGCCCTTGGACAGAGCGAGCGCCTATGCGAGATAACTCCGGGGAAGCTCAAAGTCAGGTCAGCCGGGCTCAGCCTTCCGGCTCCTGACTGGCCGGAGTTTGGCCTTTGAGACTCATATTGCGCGCTCGCTCTCTCTCTCTCTTACACACACACACACAAACACACACACACTCACACTCACCCGTCCCCTTACGAAATCTGACCTCTGTTTATCAGGGTCAGGCGCGCCCTTTGCACTTTTACGTTTCCTTTAATTATTTCGGACTTGATCGTGGCA
Task1_train_22952
A variant was discovered on Chromosome 16, affecting GCSH (glycine cleavage system protein H). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Multiple mitochondrial dysfunctions syndrome 7
AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATAAAATACGAAAAAGTAGATTCCTGTCATACAGCTATGATTTTAAAATTCCAAATTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCACGTCACTGCAAGCTCCACCTCCCAAGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCTGCCACCACGCCCGTCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGTCTCAATCTCCTGATGCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACTGCACCTGGCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTACAGTACAATGGTGTGTTCTAGGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCGTGATCAACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAACCGTGAGCCACCGTGCCTGGCCTACATTTCTTTAATTAAAAATAAAACCATAAGTTTTGTCAGGCTATAATAACCACGAGAAGGGTATATATTGTCTCAATAAAGTGGACCTATCTGTGTGTCCTGGACACAGTAAATAACAAATGGTGATGTGCCTGAATGCCAGATGTGTGTAGGTTCAGTAAAACTCCATGTTCTTGCAACTTAGCTGTGGCTCAGAAAAAAACAAAATGAAAACTTTAGAATGTTCCAGTGACAGTGAAGTACCCTGTATCAGATAACAATTATAAGCTCTGGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGACCAAGGCAGGAAGATCACCTGAGGTCAGTAGTTTGAAACCAGCCTAGCCAACATGGTCTCTACTAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGACCATGCCATTGCAGTCCAGCCTTGGTGACAGTGTGAGACTCCGTCTCAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAACACAATTATGAACTCTGAACTACTGGCCAGGAACGGCGGCTCATGCTTGTAATCCCAACACTTTGGGAAGCCAAGGCGGGTAGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACCAAAACCTCGAAATAAATAAATTAATTAATTTAAAAAATTAGCCTGGTGTGGTTGTGCATGCCTGTACTCCCAGCTACTTGGGTGGCTGAAAAAGGAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAATGTCGCACCATCGCATTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAGAAGAAAAAAAAAAGAACAGTTTA
AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTATGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGGTTACTCAGTGTCATCTTGATCAGCCAACCTGCAACCAAAAGACAACCTTATATTCCACATTAACTTTTTAAAAAGTCAAATTCATCCAAAACGTAAAATAAATTTCTGAGCGCCTCAATCTTGTATTCTTTACAAAAACCATACATTATTTGTTCATAGAACTTTAAATTTTAGCCTTAAGAATTAAAATACTTGTATATAACAAATGAAAATAATTATGGCTAGAATAGATTCCACCATAATAAATTAAGAACTCTTAGGTTGTAATAAGCATCAGAAAATGACATTTAAATCTTTAAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCGAAGGCAAGCAAATCACTTGAGGCTAGGAGCTCTAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGCAGTTGCCCTTGATCCCAGCTACTGGGAAGCTGAGGCAGAAGAAGTGCTTGAACCCGAGAAGGGGAGGTTGCAGTGCACCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAATAATAAAAATAAGTCCTTAAATATATGATCCAAATACACAAGACCAGGTATGTCTTTAACAAATGGAACACTAACTACTGAGGTTAACGGGATTAGAAAGCAGTAGTAATTAGAAGGGCTAGGTGACAGACAAAAGAGAACTACAACCTAATCCTAGCTTTGCCATTTATCAGCCATGAGACCCTGACAGATAAATCCTTTGGAGCCTCTATTCATCTACAAAATAGAGAAAATTGCTGTTAGCTTACCTGATTAGATTATAAGGGTGAAAATGTGAGAAAACCAAAAATTAATGCAAAATATATATTTTTTTACCTCCCATGTCACACAATATGAGTGGCTGCTTTATGTCTGAAAAAGTAAATACTTTGCAGATGTTTACACCAAAACCAAAGAATCTACAACTGATATCAAGAAACTGCAAAATAAGGTAATGCTTTTATCATCAGAGATTTTTTTTTCTTTTTTTGAGAAGGTCTCGCTCTGTCACTCAGGCTGGAGTGGAGTGGTGCGATCTTGGCTCACTATAGACTGCAGCCTTGACCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCTAGTAACTGAGACTACAGGCACATTCCACCACAGCCAGCTAATTTTTGTATTTCTATAGAGACAGAGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCCTGGACTAAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGCGAGCCACTGCGCCTAGCCAGAAATCTTAAACATAACTTTAAGTATTCAACTAACCTCTGTTTTTCTTTTAAAGCAGAACATCTCTATTTAGTACCAAGAAGTAGAAAAAGATGAAGTCACAATCAGCTAAACTTGCTTTAAATTCTAGATAAAATATTTACTGTAGTAGTAATTCCTTGAGAAATTTCTAGCAACAGCTTACCATCTTCATAACAAGATTTGTTTACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTCCTGATAAAAGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCACCAAACTCATCTAAGTGGAAAAAAAATTAAAGAAAACATGAAATGTTAAAAGTCAGTTACTTGAAAACATAAAATACGAAAAAGTAGATTCCTGTCATACAGCTATGATTTTAAAATTCCAAATTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCACGTCACTGCAAGCTCCACCTCCCAAGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCTGCCACCACGCCCGTCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACTGTGTTAGCTAGGATGGTCTCAATCTCCTGATGCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACTGCACCTGGCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTACAGTACAATGGTGTGTTCTAGGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCGTGATCAACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAACCGTGAGCCACCGTGCCTGGCCTACATTTCTTTAATTAAAAATAAAACCATAAGTTTTGTCAGGCTATAATAACCACGAGAAGGGTATATATTGTCTCAATAAAGTGGACCTATCTGTGTGTCCTGGACACAGTAAATAACAAATGGTGATGTGCCTGAATGCCAGATGTGTGTAGGTTCAGTAAAACTCCATGTTCTTGCAACTTAGCTGTGGCTCAGAAAAAAACAAAATGAAAACTTTAGAATGTTCCAGTGACAGTGAAGTACCCTGTATCAGATAACAATTATAAGCTCTGGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGACCAAGGCAGGAAGATCACCTGAGGTCAGTAGTTTGAAACCAGCCTAGCCAACATGGTCTCTACTAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGACCATGCCATTGCAGTCCAGCCTTGGTGACAGTGTGAGACTCCGTCTCAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAACACAATTATGAACTCTGAACTACTGGCCAGGAACGGCGGCTCATGCTTGTAATCCCAACACTTTGGGAAGCCAAGGCGGGTAGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACCAAAACCTCGAAATAAATAAATTAATTAATTTAAAAAATTAGCCTGGTGTGGTTGTGCATGCCTGTACTCCCAGCTACTTGGGTGGCTGAAAAAGGAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAATGTCGCACCATCGCATTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAGAAGAAAAAAAAAAGAACAGTTTA
Task1_train_22953
This variant lies on Chromosome 16 and affects the gene GCSH (glycine cleavage system protein H). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Multiple mitochondrial dysfunctions syndrome 7
AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGCAAGTCATTCTCATGTAGGTAATTCCCCTCACAAATAAACTCTAGGAGGTAAGGACGACATCTTACACAACATCTCAAAAACTATCCAACACTGGGCCTCATAGTAGGTATACAGAGATGCCAAGGAAGATATAATTGTGATTATCAACACACAAGCATCTTACATGTCTGAGGAATTTTGTACAGTCACGTGCCGCCTAATGGCATTTTGGTCAACAACAGACCACATATATGACAGTGGTCCCATGAAATTATAATATAGTTAGTATCACTTGTCCAAAATGCTTGGGAGCAGAAGTGTTTTGGATTTCAGATTTTGGAATACTCGCATTATACTTAATACATGAGCACTCCTCATCCAAGATTCTGGAATCCAAAACGCTCCAATGAGCATTTTCTTTAAGAGTCACGTTGGTGCTCAAAAAGTTTCAGATTTTTGGAGTATTTCAGGGATTAGAGATGCTCAACCTATGCCATATTTTTACTGTACCTTTTCTGTGTTTTGATAGGCCAAGTGTGTTACGATTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGGTTTGTAGCCCAGGAGCAAAGGCTGTACCATACAGCCAAGGTGTGTAATAGGCTGTACCATCTAGGTGTGTGTAAGGGCACCCTAGGAGGCTCACAGAAGGACGCAATCCCCGAGGAGGCAGTTATCAGAACATAGCTCCATCATTAAGTGACACGAGTGCATTCCCATCAGTTAACATCCCCCCTTCCCCGCCTCACCCAATACATACATCCAGTTGAAAATCACTGAACACGCTAGGATTTGGCTTCTCATTTTCTCTTAAACAGTATCGCCATATGGAATTGAGGGGAATTTACAGAGAAAAGATGGGCTGAATAAAAGCCTTCCCTTTGTGTCATCTGTGCCTATTGAGGTTTTCTTTCTTCCCGTCCTCCTGGTCACGTGTGTATCACTGGACCCACAAAATGGTGGCAACACCCTGCTCTTCTTTTTCCTCTTTCCTTAATTGCCCAGTACAAAACACACACATTTCCTTCTTGAATAGGACATGTTTCCTACTTTCAGTGTTAAGCTTGCAACATCTCTTAAAACACCACATAATGCCCTAACTAAATTATGTTTTACTTAATTCAACTCTGGTTGGTTTTCTTACTTTCTTTCTTTCTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAATCTCGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCTGACGAGCTGGGATTACAGGTGTGCACCACCAAGACCAGCTAATTTTTGTATTTTGCAGTGACATGATCATGGTTCACTGCAGCCTCAACCTCCTGGGCTCCAGCGACCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACCACAGGCATGAGCAACCATGCCAGGCTAATTTTTTTTTTTAACTTTTGGTAGAGACGGGGTCTCACTTTGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCTCACGCAGCCTAAACACTTTTAAAAAGGTAGAGATAAAGCAAATCATGCAAGAGCACACTGGGACAAATATTTCAATATAATCCAATACCTGTGCAAAATTGCTGATTCCCACTGTTCCAATGCCATTTTCTGTTGTTACCCATTCGTGTTTCTCTGTGAATTTACGCACTAAAACAGAAGACCAACATTTCAGAAAAGCAGTAGCATTACTTCTTAAGAAGCACTTTTCATTACCATTGCTTTCAAAAGACTTTCCCAGAATTTCTGTTTGACCTGTTGACACTACCTTTAAATAGTGCATGGCTCAGGAAAGAATGAAGATCATGTATAGAGATGACGCATTTAAACAGCAGTACCATTTAAGCAAAGATGGCTTCATCTGAACACCTTGTGCATCTTTTGGAGATTGGATTATCTGCTTTAACATTACTTAGCCTAAATCACAAAAGAAAATTTTGGAGCATATTTCAAATGTATACTTAACTATTACTGGTCTGTCTTGCAGAAAAAAAAATCTGTGCCTCTGAAGACAAATTTGGGGTGATGAGGTTTAGGGAGGCAGCATAAAGATGGCTCATATAAGAAATGATTTAACCTAAAAAAAAAAATAACAGTAATAATCAGGTGCCTCTTTAGGCAGAGTTGACCTAAGAGAGCTTCAGTGCAGCTTGGGTTACAAAGTAAAATTTTACAGGAATGAAACTGACCTCCTGGAACAACTATAATTTGACTAAGTTCTTAAAATTCTACTTTAATCAAATTCAAGCCTAACCTTGAAGATAGCACTACCATCGCTTAAAGAAGAAAATTAAGATCACAACTCAACAGTCTTCTCAGAGCTAAGCCATGGGTTGGTGGAGAATCAAGCTCTGCTCACCACTCACTGGACAGGTTCAGCCCTCGACTTACTGAGCACTTCTCTAAAGATACGGTCAAACGATTCAGGGAATCCTGAAAGAAGGACCGGCCAATGTTCAAGAGTAAAAAGAGTTATTTAGGATATAAAGTTAAAAGTACTTGCCTTAGAGAATAATATTTTTTAAAAAGCATATGCTATATTAAATACAGTTCATATTCTGACACCAAGTATTTTTCTAAAAACAATGCAACGTAAGTTCATAGAAAAATGGTTAACTCAAATACTGTTTTAAAGAGGCCTCACTGGCTCATTTTACCCCTTACCCAAAGGATAGTAGTACTTAAAACAGCATTCAATTGCTTTGGTTACAGCTCTGATACGCAGCACAACGTAAGTAGAGTGTATAATTATTATTTTTATTTTTTATTTTTGTAGAGATGGGGGGGTCTATGTTGTCCAGACTGGTCTCAAATTCCTGAGCTCATGATCCTCCCACCTCAACCTCTCACAGTGCTGGGATAATAGTGTGTGAGCCACCGTGCCTAGCCAAGTATATAATTCAATATTGCTTTCTTTTCCCCTTAATTATGAAACTTTCTAAAGTTCATACCCCTTCAGTGGAAGAAGTCAAAAAATGTGTCACTAAGAAATTTATTTTGCTTCATTCCACTTCAAAGAACTGAATGTTTCAGGTCACTCTGACGTTCAGGTAAGAAAGTTTAAGATGTGTACACTGTGTTTTGACTGAAAGACTCTCCCTACCATCTTTACTAACTACTTCCGGTCTAGATTCAGAAGTCCGTTCCTGCCCAAAGGCTTGTCTAACCAAGTCTAGGTTCTTAGGCCAGCCAACATGCTCTTACGGCACCCTGTACCACTATCCCCCAGCACACACACGGTGCTGAACATACTAGAGATCATCTGTCAGTCTCCCCAGGAAGTAGGCTGTGTACCCACCAAGAAACAGCAAGGTTTATCTTATTTTCATTTGTTTTCCCAATTTTAAATACAGTGCTTGCCACATAGCAAGCACTCAAAAGCTGAAGGAATGAAATAATTTTTTTTTTCCTTAAATTATCATGTCGCAGGCCAGGCACAGTGACTCATGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCCGGGGTTTGAGACCAGCCTGGCCAGCATAGTGAAACCACATCTCTACTAAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACTCCTGTAATGCCAGCGACTTGGGAAGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTG
AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGCAAGTCATTCTCATGTAGGTAATTCCCCTCACAAATAAACTCTAGGAGGTAAGGACGACATCTTACACAACATCTCAAAAACTATCCAACACTGGGCCTCATAGTAGGTATACAGAGATGCCAAGGAAGATATAATTGTGATTATCAACACACAAGCATCTTACATGTCTGAGGAATTTTGTACAGTCACGTGCCGCCTAATGGCATTTTGGTCAACAACAGACCACATATATGACAGTGGTCCCATGAAATTATAATATAGTTAGTATCACTTGTCCAAAATGCTTGGGAGCAGAAGTGTTTTGGATTTCAGATTTTGGAATACTCGCATTATACTTAATACATGAGCACTCCTCATCCAAGATTCTGGAATCCAAAACGCTCCAATGAGCATTTTCTTTAAGAGTCACGTTGGTGCTCAAAAAGTTTCAGATTTTTGGAGTATTTCAGGGATTAGAGATGCTCAACCTATGCCATATTTTTACTGTACCTTTTCTGTGTTTTGATAGGCCAAGTGTGTTACGATTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGGTTTGTAGCCCAGGAGCAAAGGCTGTACCATACAGCCAAGGTGTGTAATAGGCTGTACCATCTAGGTGTGTGTAAGGGCACCCTAGGAGGCTCACAGAAGGACGCAATCCCCGAGGAGGCAGTTATCAGAACATAGCTCCATCATTAAGTGACACGAGTGCATTCCCATCAGTTAACATCCCCCCTTCCCCGCCTCACCCAATACATACATCCAGTTGAAAATCACTGAACACGCTAGGATTTGGCTTCTCATTTTCTCTTAAACAGTATCGCCATATGGAATTGAGGGGAATTTACAGAGAAAAGATGGGCTGAATAAAAGCCTTCCCTTTGTGTCATCTGTGCCTATTGAGGTTTTCTTTCTTCCCGTCCTCCTGGTCACGTGTGTATCACTGGACCCACAAAATGGTGGCAACACCCTGCTCTTCTTTTTCCTCTTTCCTTAATTGCCCAGTACAAAACACACACATTTCCTTCTTGAATAGGACATGTTTCCTACTTTCAGTGTTAAGCTTGCAACATCTCTTAAAACACCACATAATGCCCTAACTAAATTATGTTTTACTTAATTCAACTCTGGTTGGTTTTCTTACTTTCTTTCTTTCTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAATCTCGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCTGACGAGCTGGGATTACAGGTGTGCACCACCAAGACCAGCTAATTTTTGTATTTTGCAGTGACATGATCATGGTTCACTGCAGCCTCAACCTCCTGGGCTCCAGCGACCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACCACAGGCATGAGCAACCATGCCAGGCTAATTTTTTTTTTTAACTTTTGGTAGAGACGGGGTCTCACTTTGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCTCACGCAGCCTAAACACTTTTAAAAAGGTAGAGATAAAGCAAATCATGCAAGAGCACACTGGGACAAATATTTCAATATAATCCAATACCTGTGCAAAATTGCTGATTCCCACTGTTCCAATGCCATTTTCTGTTGTTACCCATTCGCGTTTCTCTGTGAATTTACGCACTAAAACAGAAGACCAACATTTCAGAAAAGCAGTAGCATTACTTCTTAAGAAGCACTTTTCATTACCATTGCTTTCAAAAGACTTTCCCAGAATTTCTGTTTGACCTGTTGACACTACCTTTAAATAGTGCATGGCTCAGGAAAGAATGAAGATCATGTATAGAGATGACGCATTTAAACAGCAGTACCATTTAAGCAAAGATGGCTTCATCTGAACACCTTGTGCATCTTTTGGAGATTGGATTATCTGCTTTAACATTACTTAGCCTAAATCACAAAAGAAAATTTTGGAGCATATTTCAAATGTATACTTAACTATTACTGGTCTGTCTTGCAGAAAAAAAAATCTGTGCCTCTGAAGACAAATTTGGGGTGATGAGGTTTAGGGAGGCAGCATAAAGATGGCTCATATAAGAAATGATTTAACCTAAAAAAAAAAATAACAGTAATAATCAGGTGCCTCTTTAGGCAGAGTTGACCTAAGAGAGCTTCAGTGCAGCTTGGGTTACAAAGTAAAATTTTACAGGAATGAAACTGACCTCCTGGAACAACTATAATTTGACTAAGTTCTTAAAATTCTACTTTAATCAAATTCAAGCCTAACCTTGAAGATAGCACTACCATCGCTTAAAGAAGAAAATTAAGATCACAACTCAACAGTCTTCTCAGAGCTAAGCCATGGGTTGGTGGAGAATCAAGCTCTGCTCACCACTCACTGGACAGGTTCAGCCCTCGACTTACTGAGCACTTCTCTAAAGATACGGTCAAACGATTCAGGGAATCCTGAAAGAAGGACCGGCCAATGTTCAAGAGTAAAAAGAGTTATTTAGGATATAAAGTTAAAAGTACTTGCCTTAGAGAATAATATTTTTTAAAAAGCATATGCTATATTAAATACAGTTCATATTCTGACACCAAGTATTTTTCTAAAAACAATGCAACGTAAGTTCATAGAAAAATGGTTAACTCAAATACTGTTTTAAAGAGGCCTCACTGGCTCATTTTACCCCTTACCCAAAGGATAGTAGTACTTAAAACAGCATTCAATTGCTTTGGTTACAGCTCTGATACGCAGCACAACGTAAGTAGAGTGTATAATTATTATTTTTATTTTTTATTTTTGTAGAGATGGGGGGGTCTATGTTGTCCAGACTGGTCTCAAATTCCTGAGCTCATGATCCTCCCACCTCAACCTCTCACAGTGCTGGGATAATAGTGTGTGAGCCACCGTGCCTAGCCAAGTATATAATTCAATATTGCTTTCTTTTCCCCTTAATTATGAAACTTTCTAAAGTTCATACCCCTTCAGTGGAAGAAGTCAAAAAATGTGTCACTAAGAAATTTATTTTGCTTCATTCCACTTCAAAGAACTGAATGTTTCAGGTCACTCTGACGTTCAGGTAAGAAAGTTTAAGATGTGTACACTGTGTTTTGACTGAAAGACTCTCCCTACCATCTTTACTAACTACTTCCGGTCTAGATTCAGAAGTCCGTTCCTGCCCAAAGGCTTGTCTAACCAAGTCTAGGTTCTTAGGCCAGCCAACATGCTCTTACGGCACCCTGTACCACTATCCCCCAGCACACACACGGTGCTGAACATACTAGAGATCATCTGTCAGTCTCCCCAGGAAGTAGGCTGTGTACCCACCAAGAAACAGCAAGGTTTATCTTATTTTCATTTGTTTTCCCAATTTTAAATACAGTGCTTGCCACATAGCAAGCACTCAAAAGCTGAAGGAATGAAATAATTTTTTTTTTCCTTAAATTATCATGTCGCAGGCCAGGCACAGTGACTCATGCGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCCGGGGTTTGAGACCAGCCTGGCCAGCATAGTGAAACCACATCTCTACTAAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACTCCTGTAATGCCAGCGACTTGGGAAGCTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTG
Task1_train_22954
A variant has been detected on Chromosome 16 in GAN, LOC130059498 (gigaxonin| ATAC-STARR-seq lymphoblastoid silent region 7753). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Giant axonal neuropathy 1
GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAACAATATAGAGACAGTACAACGAATCTCCACATCCCCATTACGTGGCTTTAACAATTAGTAACTTGCGGCCACTTTTGACTCATCTACACTCCCATCTGCTTCCCCATCCCTTTGTTTTGTTTTGAAGCAAATCCTAGACATCTTTATCATTGCATCCGGGAACACTGAGCTGCATTTACAGAAGAAAGTGGAAATGCATGTGTCTTCCACAGCCGTACCCTCCCCATCTATTCTGCCCTGAAAACAGTTAGATACTCGGATTCCTGCCAGTGACTCCAAAGCCTTGGCTGGTTCAGGGTAAATACCCAAGACTTTATTGGAGCCTTTCAGTTGGTTGAAGGACAGTGAAAATTCCATCCTGTCTTGCCTGGAATGCTAGCCACATTCTTCTGGTCCGGAGTCCTCATACAATTGCTAATTTTTTAGAGGCTTATGGAGTCCCTAACGTTTGCACAAAATGGTTGCTACATTCCACACTCCCATGTGCCCTGAGCAACCTCCAGGGAAACTTCAGATACCGTGGGGCTTGGCCTGCCAGCTGAGCTGACCCAGCGATCCTTTCTATCACAGCTTTGATCTTCACTGGGTTGGGAGCCTGTCTGAATCTAAACATCTGCCTCTCTACTGCCCACCCCTTCAGCATTTCCTAGCTCTCCCTGAAAGGTGCAAACATGCATGCAGTTACTCAAACAGAATATTTATCCTTAACTCCCTCTCCCTCACAATTTCTTTTAAAACAATCCACTATTGTCTACCCCCGCCCCCGCATCACCCTTTCATCCAGGTGCCCATTCCCTTCTCTCTAGTCCTGCAATACCTAAGCATCGATCTGCCTTTAGCACATCCATCCCCGCCTTATTCTCCACGCAGGAGCTGAGTGACCTGCACAAAATCCCCTGCTAAATACGGTACTTCCATGGTTCTTCACCACTGCAGAAACCAAACTCCTTCCCACACCAAGGAGGCCCTGCAAAATTTAAGGCCTCCTTCGGACTTCTCCAGCTTCATCTGCTACATCTCCTTCCTAGCCCGCAACCAAAACCATCTTTTCCGGGTCTGTTTTCTCGGGTTTTTGTCCTCTCACCTGGGCAGCTCCTTTTCTCTCATAAATAAAGAAAGCTACAGCGACTTCGCCCTTGCTTCCATGCATCATCTCATGAGTCCACAACAACACTAAGAATTCGCTTTCATTTTGCAGACGGAGAAACTGAGGATGGGCACCTTACCCATGGCCACAGAGCTAGTAAGTGGAACAGCTGCAACCAGGATTCAAACTCGCGGCTCCAGAGGCCACAGGCTTAACCACGGAATCCTAGCCCGCCCGCACATCCCTCCATCGCGGGAGCGACCTATCTCATCCGTAGACACCTTCCGCTGCACCCAGCCGCAGCTGGTCAGGCGGGCGGAGGAAGGAGGCTTCTGATTGGCCATCTCCAGCAGCGGAGGCGAGAAGGCGGGGAGCGACGGTGCGGGGGCGTCGCGGAGAAATGACTTCATGACGCGGCTTCTTAAAGGCGCCGGCCCAGCGCGCCGCGGATAGCACAGGCACGTCCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGGCCGGGCGGGCGCGCGCGCAGGACTCGGGCCGCTCGAGGGGTCCGGCCGGACGGTGTCGGGAGCCGGACCCGTCGGCAGAGGAGCGGGCGCCGCGATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGCGTCTGCTGCGAGCGCTCAGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAGATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAGGTGGGGAGGGGGCTACGGCGGGCGGGCGCGGCGGTGCTGCCCGGAGCCGGAGGCGGGGCGGCCGGGCCGGGCGTGGCCCCCAGACCCTGTCCCCTGTCCCCGGCGCCGGGGTCCCCGCGTCACCGTTGGCGCGGCGTCCCTCCCGGCAAGCGCCGGAACCCGGCCCCGCTGACCGCGTCCCCCAGGCGGCCTCTGTGGCTTCCAGGCCCGCGCTCCCCACTGGACCCCCGCGCCCCTTGGAGTTGTCCCCGGACCCGGGCCGCGATCCCCCGCCTTGTCCCTCCCGGTTCCCACCGCCGCGGCGAGCGCCCGACCTCGGAGACCCTGAGGCCCCCAGACGCCGTCCTGGGCCGGCCGGGACCCGCACCTGCGGGCTGGGCGAGGCCGCGCCGGGGAAGAGTCACCCCCTCGCCCAGGCCGGGCCCGCGGTCCCCGCTGAAGTTCGCCAGTCGCTCGCCTCTGAATCCACGCGCGGGGGCTGGGCCGGCGCCGCCAACCAGGCGGGGAGCGCCCTGCCCGCTGGGAGGCCAGACAGACAGCGCCTCGCTGGGTGCAGGCAGAGAAAACCCTCTCGATGTTCTCCTTGGGTTGGTAGTCCGAACCTCCGGGCGAAATTCTCCTTGCCAAACGTGTCTTTTCCGCTCCATTCTGGTAACTGTTTAAAAGAGGAGTTACACGTTGAAGTAAACTGTAGCGAATTCTCAGGATGCTGTTACAACCCGAGGACCGTGAGAGCCTTGCGACAAAGGGCATTTTAATACTTTAGTAAAGCAAAGCTTAACCTGATTTGCCAACTCAACTAACCAGGTTAATTAAAAGGTTGATAAGACAGTGCTTATACAAGTGTATCAGATCTTGCAGGAGACTATCTTTTCTTTTAGCAACCTTCTTGCAAACTAGGTTGCTGTTTTAATAAAAGGAAAGGGGGGAATGCTAAAAACTGGAGAAACTGACCAGTAAGCTGGTTAAATATAAGCTAGTGGTAGAGAATATCACTACAATTGACAGGTCAGAAAAAGCAAAATGATGTGTATTCTTAGCGCTTTGTCCCAGCAAAACCACCACGCACGCTACACTTTTAACCTTTGCATTGGGGAGATATCTGTGCTAAACTTAGAAGAAATTCAAGTGCCCTTGTAACTTCTGGTTTCTCTTGGATTTGTTTTGTGAATCCATTTGCGCTCTTTGGCGGTGGGGAGTGTGGAGGGGTGGGGGGGCGGGGCGGCAGTAGGGTCTGGGGTAGCATCGTTAGTACAGAATTTGGATTGCTAATGTGACAGACAGCTTCTAGCTGGCAGTTCCGAGGTTTGAGCAACCCATCCCAAATTGGAGTCAGCAGACCAAAGTCTTCCCTGTTTGGGAAAATGCTGAAGAAAACTACTTTAGATGCATTATTGTTATAGTTCTTTAAATGGCATCCGTTTGGCTTAAAAGAAGTAAATTGCAAATTGCCGAATCCTTGCTTGTTATCCTTGTTCGTTTTTCTCCATAGCACTTACCACTTTGACGTACCCCATATTTTACACATTTACTTTGGTGGTCTTTCCCAACCACAGTGTGACCTCAATGAGGTCGTGGTGTTTTGTTTTGTTTTTCGAGACTGAGTTTCACTCTTTAGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCCGCCTTCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACGCCCGCCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGTCGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGTGGCACCCGGCGGTGTTTTCTTTTATTCACTGCTTTACTCTTTGCACCCAGAAAGAACT
GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAACAATATAGAGACAGTACAACGAATCTCCACATCCCCATTACGTGGCTTTAACAATTAGTAACTTGCGGCCACTTTTGACTCATCTACACTCCCATCTGCTTCCCCATCCCTTTGTTTTGTTTTGAAGCAAATCCTAGACATCTTTATCATTGCATCCGGGAACACTGAGCTGCATTTACAGAAGAAAGTGGAAATGCATGTGTCTTCCACAGCCGTACCCTCCCCATCTATTCTGCCCTGAAAACAGTTAGATACTCGGATTCCTGCCAGTGACTCCAAAGCCTTGGCTGGTTCAGGGTAAATACCCAAGACTTTATTGGAGCCTTTCAGTTGGTTGAAGGACAGTGAAAATTCCATCCTGTCTTGCCTGGAATGCTAGCCACATTCTTCTGGTCCGGAGTCCTCATACAATTGCTAATTTTTTAGAGGCTTATGGAGTCCCTAACGTTTGCACAAAATGGTTGCTACATTCCACACTCCCATGTGCCCTGAGCAACCTCCAGGGAAACTTCAGATACCGTGGGGCTTGGCCTGCCAGCTGAGCTGACCCAGCGATCCTTTCTATCACAGCTTTGATCTTCACTGGGTTGGGAGCCTGTCTGAATCTAAACATCTGCCTCTCTACTGCCCACCCCTTCAGCATTTCCTAGCTCTCCCTGAAAGGTGCAAACATGCATGCAGTTACTCAAACAGAATATTTATCCTTAACTCCCTCTCCCTCACAATTTCTTTTAAAACAATCCACTATTGTCTACCCCCGCCCCCGCATCACCCTTTCATCCAGGTGCCCATTCCCTTCTCTCTAGTCCTGCAATACCTAAGCATCGATCTGCCTTTAGCACATCCATCCCCGCCTTATTCTCCACGCAGGAGCTGAGTGACCTGCACAAAATCCCCTGCTAAATACGGTACTTCCATGGTTCTTCACCACTGCAGAAACCAAACTCCTTCCCACACCAAGGAGGCCCTGCAAAATTTAAGGCCTCCTTCGGACTTCTCCAGCTTCATCTGCTACATCTCCTTCCTAGCCCGCAACCAAAACCATCTTTTCCGGGTCTGTTTTCTCGGGTTTTTGTCCTCTCACCTGGGCAGCTCCTTTTCTCTCATAAATAAAGAAAGCTACAGCGACTTCGCCCTTGCTTCCATGCATCATCTCATGAGTCCACAACAACACTAAGAATTCGCTTTCATTTTGCAGACGGAGAAACTGAGGATGGGCACCTTACCCATGGCCACAGAGCTAGTAAGTGGAACAGCTGCAACCAGGATTCAAACTCGCGGCTCCAGAGGCCACAGGCTTAACCACGGAATCCTAGCCCGCCCGCACATCCCTCCATCGCGGGAGCGACCTATCTCATCCGTAGACACCTTCCGCTGCACCCAGCCGCAGCTGGTCAGGCGGGCGGAGGAAGGAGGCTTCTGATTGGCCATCTCCAGCAGCGGAGGCGAGAAGGCGGGGAGCGACGGTGCGGGGGCGTCGCGGAGAAATGACTTCATGACGCGGCTTCTTAAAGGCGCCGGCCCAGCGCGCCGCGGATAGCACAGGCACGTCCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGGCCGGGCGGGCGCGCGCGCAGGACTCGGGCCGCTCGAGGGGTCCGGCCGGACGGTGTCGGGAGCCGGACCCGTCGGCAGAGGAGCGGGCGCCGCGATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGAGTCTGCTGCGAGCGCTCAGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAGATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAGGTGGGGAGGGGGCTACGGCGGGCGGGCGCGGCGGTGCTGCCCGGAGCCGGAGGCGGGGCGGCCGGGCCGGGCGTGGCCCCCAGACCCTGTCCCCTGTCCCCGGCGCCGGGGTCCCCGCGTCACCGTTGGCGCGGCGTCCCTCCCGGCAAGCGCCGGAACCCGGCCCCGCTGACCGCGTCCCCCAGGCGGCCTCTGTGGCTTCCAGGCCCGCGCTCCCCACTGGACCCCCGCGCCCCTTGGAGTTGTCCCCGGACCCGGGCCGCGATCCCCCGCCTTGTCCCTCCCGGTTCCCACCGCCGCGGCGAGCGCCCGACCTCGGAGACCCTGAGGCCCCCAGACGCCGTCCTGGGCCGGCCGGGACCCGCACCTGCGGGCTGGGCGAGGCCGCGCCGGGGAAGAGTCACCCCCTCGCCCAGGCCGGGCCCGCGGTCCCCGCTGAAGTTCGCCAGTCGCTCGCCTCTGAATCCACGCGCGGGGGCTGGGCCGGCGCCGCCAACCAGGCGGGGAGCGCCCTGCCCGCTGGGAGGCCAGACAGACAGCGCCTCGCTGGGTGCAGGCAGAGAAAACCCTCTCGATGTTCTCCTTGGGTTGGTAGTCCGAACCTCCGGGCGAAATTCTCCTTGCCAAACGTGTCTTTTCCGCTCCATTCTGGTAACTGTTTAAAAGAGGAGTTACACGTTGAAGTAAACTGTAGCGAATTCTCAGGATGCTGTTACAACCCGAGGACCGTGAGAGCCTTGCGACAAAGGGCATTTTAATACTTTAGTAAAGCAAAGCTTAACCTGATTTGCCAACTCAACTAACCAGGTTAATTAAAAGGTTGATAAGACAGTGCTTATACAAGTGTATCAGATCTTGCAGGAGACTATCTTTTCTTTTAGCAACCTTCTTGCAAACTAGGTTGCTGTTTTAATAAAAGGAAAGGGGGGAATGCTAAAAACTGGAGAAACTGACCAGTAAGCTGGTTAAATATAAGCTAGTGGTAGAGAATATCACTACAATTGACAGGTCAGAAAAAGCAAAATGATGTGTATTCTTAGCGCTTTGTCCCAGCAAAACCACCACGCACGCTACACTTTTAACCTTTGCATTGGGGAGATATCTGTGCTAAACTTAGAAGAAATTCAAGTGCCCTTGTAACTTCTGGTTTCTCTTGGATTTGTTTTGTGAATCCATTTGCGCTCTTTGGCGGTGGGGAGTGTGGAGGGGTGGGGGGGCGGGGCGGCAGTAGGGTCTGGGGTAGCATCGTTAGTACAGAATTTGGATTGCTAATGTGACAGACAGCTTCTAGCTGGCAGTTCCGAGGTTTGAGCAACCCATCCCAAATTGGAGTCAGCAGACCAAAGTCTTCCCTGTTTGGGAAAATGCTGAAGAAAACTACTTTAGATGCATTATTGTTATAGTTCTTTAAATGGCATCCGTTTGGCTTAAAAGAAGTAAATTGCAAATTGCCGAATCCTTGCTTGTTATCCTTGTTCGTTTTTCTCCATAGCACTTACCACTTTGACGTACCCCATATTTTACACATTTACTTTGGTGGTCTTTCCCAACCACAGTGTGACCTCAATGAGGTCGTGGTGTTTTGTTTTGTTTTTCGAGACTGAGTTTCACTCTTTAGCCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCCCACTGCAACCTCCGCCTTCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACGCCCGCCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGTCGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGTGGCACCCGGCGGTGTTTTCTTTTATTCACTGCTTTACTCTTTGCACCCAGAAAGAACT
Task1_train_22955
This mutation is located in gene GAN (gigaxonin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Giant axonal neuropathy 1
TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTTATAATTCATACCAAGAGCATGTTTCAAAGCTATTTTTAAATTTCACTTGAATTTTTTTTTAAACCTTAAATTTTCTTAGTAAAAAATAACAGGAATATCTAGATATAAGTTCTTAAAACAAAAAGCATTGACCGAAAAATTGTTCTTCAAATTCTTCATCAGTTTGTTTAAGAAGTCTTTTTTTTTTAAGTTTTTTAAAAGGCCCCTTTTAAAAAGTTCATGTCTGTTAAATGATTAGTATCACAAATATGTAAAGAACTCCTACACCGCAATGTGAGGACAGTTAGTGAAAAATGAACAAGAAACATGAACAAACGTTTTGCAAAAGGGGAAACGTGGCTACAAACATACAAAGAGATGTTCAGCACCTGGGTAGTAAGAGAATGCAGATGATAACCACAGTGAGATACCATATTTCACTCATTCAATTGACAAAACTTAAGAAGTGTGACAGATTCAAATGTTGTAGAGTTTATGAATCCGCAGATGCCCTTACACATACATAGTATATGAGGCTGTAAACAGCGCCACCTACTATGGAGAATAAGTAGCATAATTCTACTCCCAGGAGTAGACCCAAGGGAAATTTTTGTTTATTTATTTATTTACTTACTTAATTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATTATCTCAGCTTACTGCAACCTCCATCTCCCAGGTTCGAGCTATTTTTGTGCCTCAGCCTCCTGAGCTGCTGGGATTGCAGGCGTATGCCACCACCACTCCCAGTCGATGTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAGCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCGAAAAATTCTTTAACATAGCACAAAAGAGTCATATGCAATAATAGTCATAGCATCACAGTTTGCAATATCGAAAACCTGGAGACAACCCCAGATGCCCATCAACAGGAAAATGGGATATTGCACAGCAGAAAGAACTAAAGAACCAGTGTGATATGCACACCTCTATAAAATTTTAAGTCATTTATATAAAACAATAATGCAAAATGGATGACTAATTATAAAACAAGTTAAAATTTAAAATATATATTTCACGGATGCAGTAATAAAGCAAGGAAAAAGTGAGCATAGGATTTGGGATAATGGTTACTTCAGATGGTGGAAGCAGAGGAATGGATTGGTGGGGAAGACCATCTGGTTAGAAGCGGGCTATTGACAAGGTCTTAGCTTTTGTTTTGGATGGCAGGTTTGTGGAGTCCTTGTTACATTATTGAAGATTAATTAGAGAATTCAATACATTAGAAAATAAGCCTAAAGGGACTGGGATTTCCAAGGTGAAATACAGATTCATGGTCATGTGGATCTTAGTTCTTTGGTCATCTGTTTTGTTTTTGTTTTTTAAGAAGTAGCATTTGGGATCCTGGGACCAATGTTTTGTAGTTGAAAGTTATAGAAATACATAGACCTAAAGTTAACGAACTAAATTTTCTAGGTGGGGATTCATATACTGATAAGTATCTTATACGTTATAGAGTTTTGAGTACATAAATATTTATAGCTATTTCTGTTCTTTCATAGAAATTTTACATTTTTTTCCCTTTCTTAGGACAAAGTTAAACTATAATCCTCCAAAAGATGATGGATCAACTTATAAGATTGAACTTGAAGGGATATCGGTAATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAGGTATGATGAGAAACAAAGGAAGGAAGACCTAAGTAGAGGCTTCTCAAGCTCAGGGTGAGGGTCTCCTTTCATCCATTATATGACAAAGTAGCACTGTCATCTTCATCTTCTGTCACTGTGTGCATTGACTGACATTTCCTACTGGTAATGGCACCCCATGTGTGTTCTTCCATGGCTGTGCTCCTAGAGAAGCAGAGGAAGTAAGATCTTAGACTCAAATCTCAGTTTGTTGCTACCATTCTGAGCTCCACCTTCTCATATGAGATATTAAAGAACATGGGATGCTGCCCTGACTGCTGTGTTTTTGGTTTTTGCTTTGGAATCCCGATTCCAGTCTTGCTTTGTATCCATATGACTGGGGATACAAAACTTGTTTTGTCTCCATAGCATGGAAATAGGAACTTCCTGGGGCGTTGTGGATTATTTGGTAGAAATAGAGAGTTCCTTGTAGATCATTCCCAGAGAAAGATGACTGACAGACATGACAAGCACCTTATTCACGATGCCCTGGTCCTGTTGCCTCAGTAGTACCCACATCCCTGCCCCACCCTTATTCTCTCTTCCCTCTCCATGTCCACTTGAACCTCTGGGGACTTTGTGATACCCAGGGAGGAGAATGATAAACGATCAGACTTCTTTCTTTTCCTTTGCCCTCCTCCGACTACCCATTCCCCATGACGTGATTTCAAGCAAAGCATGAGGACTCAAGAAAAATCTTCCGTGTGAATCAGGGCTAGTTTTTTGTTTTGTTTTTTTAACAGAAGGAAGAGGTCAGTGCATCTTACCTTTGGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAAT
TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTTATAATTCATACCAAGAGCATGTTTCAAAGCTATTTTTAAATTTCACTTGAATTTTTTTTTAAACCTTAAATTTTCTTAGTAAAAAATAACAGGAATATCTAGATATAAGTTCTTAAAACAAAAAGCATTGACCGAAAAATTGTTCTTCAAATTCTTCATCAGTTTGTTTAAGAAGTCTTTTTTTTTTAAGTTTTTTAAAAGGCCCCTTTTAAAAAGTTCATGTCTGTTAAATGATTAGTATCACAAATATGTAAAGAACTCCTACACCGCAATGTGAGGACAGTTAGTGAAAAATGAACAAGAAACATGAACAAACGTTTTGCAAAAGGGGAAACGTGGCTACAAACATACAAAGAGATGTTCAGCACCTGGGTAGTAAGAGAATGCAGATGATAACCACAGTGAGATACCATATTTCACTCATTCAATTGACAAAACTTAAGAAGTGTGACAGATTCAAATGTTGTAGAGTTTATGAATCCGCAGATGCCCTTACACATACATAGTATATGAGGCTGTAAACAGCGCCACCTACTATGGAGAATAAGTAGCATAATTCTACTCCCAGGAGTAGACCCAAGGGAAATTTTTGTTTATTTATTTATTTACTTACTTAATTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATTATCTCAGCTTACTGCAACCTCCATCTCCCAGGTTCGAGCTATTTTTGTGCCTCAGCCTCCTGAGCTGCTGGGATTGCAGGCGTATGCCACCACCACTCCCAGTCGATGTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAGCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCGAAAAATTCTTTAACATAGCACAAAAGAGTCATATGCAATAATAGTCATAGCATCACAGTTTGCAATATCGAAAACCTGGAGACAACCCCAGATGCCCATCAACAGGAAAATGGGATATTGCACAGCAGAAAGAACTAAAGAACCAGTGTGATATGCACACCTCTATAAAATTTTAAGTCATTTATATAAAACAATAATGCAAAATGGATGACTAATTATAAAACAAGTTAAAATTTAAAATATATATTTCACGGATGCAGTAATAAAGCAAGGAAAAAGTGAGCATAGGATTTGGGATAATGGTTACTTCAGATGGTGGAAGCAGAGGAATGGATTGGTGGGGAAGACCATCTGGTTAGAAGCGGGCTATTGACAAGGTCTTAGCTTTTGTTTTGGATGGCAGGTTTGTGGAGTCCTTGTTACATTATTGAAGATTAATTAGAGAATTCAATACATTAGAAAATAAGCCTAAAGGGACTGGGATTTCCAAGGTGAAATACAGATTCATGGTCATGTGGATCTTAGTTCTTTGGTCATCTGTTTTGTTTTTGTTTTTTAAGAAGTAGCATTTGGGATCCTGGGACCAATGTTTTGTAGTTGAAAGTTATAGAAATACATAGACCTAAAGTTAACGAACTAAATTTTCTAGGTGGGGATTCATATACTGATAAGTATCTTATACGTTATAGAGTTTTGAGTACATAAATATTTATAGCTATTTCTGTTCTTTCATAGAAATTTTACATTTTTTTCCCTTTCTTAGGACAAAGTTAAACTATAATCCTCCAAAAGATGATGGATCAACTTATATGATTGAACTTGAAGGGATATCGGTAATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAGGTATGATGAGAAACAAAGGAAGGAAGACCTAAGTAGAGGCTTCTCAAGCTCAGGGTGAGGGTCTCCTTTCATCCATTATATGACAAAGTAGCACTGTCATCTTCATCTTCTGTCACTGTGTGCATTGACTGACATTTCCTACTGGTAATGGCACCCCATGTGTGTTCTTCCATGGCTGTGCTCCTAGAGAAGCAGAGGAAGTAAGATCTTAGACTCAAATCTCAGTTTGTTGCTACCATTCTGAGCTCCACCTTCTCATATGAGATATTAAAGAACATGGGATGCTGCCCTGACTGCTGTGTTTTTGGTTTTTGCTTTGGAATCCCGATTCCAGTCTTGCTTTGTATCCATATGACTGGGGATACAAAACTTGTTTTGTCTCCATAGCATGGAAATAGGAACTTCCTGGGGCGTTGTGGATTATTTGGTAGAAATAGAGAGTTCCTTGTAGATCATTCCCAGAGAAAGATGACTGACAGACATGACAAGCACCTTATTCACGATGCCCTGGTCCTGTTGCCTCAGTAGTACCCACATCCCTGCCCCACCCTTATTCTCTCTTCCCTCTCCATGTCCACTTGAACCTCTGGGGACTTTGTGATACCCAGGGAGGAGAATGATAAACGATCAGACTTCTTTCTTTTCCTTTGCCCTCCTCCGACTACCCATTCCCCATGACGTGATTTCAAGCAAAGCATGAGGACTCAAGAAAAATCTTCCGTGTGAATCAGGGCTAGTTTTTTGTTTTGTTTTTTTAACAGAAGGAAGAGGTCAGTGCATCTTACCTTTGGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAAT
Task1_train_22956
This gene mutation involves GAN (gigaxonin) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Giant axonal neuropathy 1
GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAAT
GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCATGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAAT
Task1_train_22957
Mutation context: Chromosome 16, Gene GAN (gigaxonin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Giant axonal neuropathy 1
TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAA
TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAACGATAGTTGGAATGTAAGTTATAACAAACTCCTGAATTGGCAGTTTTGTTTTATTGAAATGCAGTTGAGTGTTTTTTTCACGTGCCTATATTTGAAGAGTCTACAGCTGCCTGCTGTCTTGTGGCTAAATATAATGTCATATAAATGGAACATTTTCCCCTACTTGTGGCTTACTCACCATACTACTTTCCACATTTTTGTTGCTCAGTTTCTAAGATGATTGGCAATTATACTTTTTTAAAAATCTGTGGTACAAAAAGTGTAAAATGTAAAAATGTTTCTTGCTATACTCCTCATGAAGTCTCCCTTGCATTTGCGAATGTGGGTGAAGTGCCCATGCTTTGGGGTCGTCCACTTAGGACTGTGGCAATATTTTAGAGAACTGTTTCTTTCCTGATGCTTTGGAGCACTGTGAAGTCAGTGGAGGAAGAAGCATTAGTCAGAAAATTGAAGAAAATTAAGGAAAAGTAGATGTTCATAATGAGAAAAAAAAAACACCCTTGTATTAGGGATTTATTCCAAAAAGTAGTTTTGAGACCTAAGTGTATCTGTCTGTGTACCAAATTGCACTGCGTACAGTGTTTTGGGATGCGGAATGAGGCTTCTGAAACACTGGAAACCCCTCTCCCTTCAAGGGGTTAGCATTCAGGTTGGCATGCCATTTAGCGGAAGAGTGAACTTCATAGGTGGGGAGGCAAGATTTTCATCAGTTCTGATGCTGGTACTTAATCATGTTGACTTTACCATAGAATGTAGAACTTTCCATTTCCCAAGCATTTGAGTCATTAAGGTTTTTCTCTGAATTACAGAAGTGAACAACATGGACAGTTCACCCTAAAAGGGTTATTGGTGGTTGACATTGGTACAGCAAGGGCAGAGCTGGGAAAAGTTAACCAAGCACACATTTGCTTATGTTGGTGCCTTCCAACTCTTGGAAAAAAAAAAAAAAATGCTGGGTTAAACCATATGAAATTGCCAATATTCGATTATCTTTGATCTAAAATAAATGGAAATTTCATGTGGCCCCAATTAATAGGTTAGTGGTTTGGGTTTTAAATGTACACATTCAAATATAAGATAATTATGCTACTTTTTTAGATCAGGCTAAATGAAGATACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTGTGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCATTTCCGAGACGTCAGCAGCACGGAAAAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAAGTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAAAGGTACCTGTCATTTATAACATGGTCAAATTTGCCTTTTTATTTCTTTTTAATTCAAATTTTAGTTGTTTTATTTTTCTTCTTCATCATGAAAGACTTACGATGCAGCAATCTAAAAGATACCTGTAAAACATGTTCCCCTATATCATGAAAGCAGTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAA
Task1_train_22958
This sequence variant lies in GAN (gigaxonin) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Giant axonal neuropathy 1
GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCAGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
Task1_train_22959
The gene GAN (gigaxonin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Inborn genetic diseases
GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCAGGCAGGCTCTGGAGTTTGTGTGGCAGTGCAGTTTCAAGAGGGAAGGTTCTGGGAGTGAAGGTCTTAAAGAATATCAGCCTCTAGATCCAAATTGTGAATACCTTGGAGGAAGGAGCAAAATCACAGGACTTGAGGGTTTTGAGGGGGCAGAGAGTCTCAGTCTGTCTCCCAGGCTGAAGGGCAGTAGCCAGAGTGGCACGATCATAGCTCACTGCAGTCCCAACCTTCCTGGCTGAAGTGATCTTCCCACCTCAGCCTCCGAGTAGCTAGGACCACAGGCGTGTGCCACCATGCCTAGCTAATTGTTTGATTTTTGTAGAGACAGGGTCTCGCTGTGCTGCCCAGGCTGGTCTCAAACTCCTGTGCTCAAGCAATCCTCCCACTCTAGCTTCCCAAAGTGCTGGGATTACAAGTGTGAACCACCATGCCCAGCCAGGACTTCATTTTTAAGTCTGATTATTATAAATAAGACACTAGCTCCAATTACTGTTTTCAAAATAAGAAATATATTAGGTGTTAGAGAGTGGATCTCACAATGTATAATTTTACTGTTAATTGTTCTTGTAAGTTAAAACTGGACTGTTAAATTTTGATGATTATCTTATAATTTTTTGAATTCTGTAAGCCCATAAGTATGCATGTTTAGAAACCATATTTGTAGTATTGGTTTTAATTGGGACAGGTAAGGACAGGTAGTGTTCTGCTTTCCATGTTAGTTGGGGAAATTGGTAAAGGAGATAGAAAAATGAGAAAAATTTCCTATGTGCTCCCACTCACCAAGACCACAGTGGGACATGCTGCTCCTTGCCAGCTTCCGTCCTGCCCTCTTCTTGCCTTAAAGCAAGGGAGATGCTTAAGGTTGGCTGGTTGCTGGGAAAACGAGGCAGTTCTTTGTCCTTTGGTCAGTTTAAACTTCATGCTGTAAAGACAGTTGATTTTTAAAACTCACAGTTTTATTTTACATTTATAAAATACTTTCGTCAGTTCAAATTTAGTGATTGAGCAGTAAAAGTGTAAATTCATATTAGTCGTCTTAGATATTTTTGAACAGTAATTACTGCAAAAATGATTATATAGTACTCAGGTTTTTTTTTAAACTTTGGCTTTTGTATATTTTTCTTGTATTATTAATGTTGATGTCTAAGTTTACCATATTGTATTGAGCTATTACTGTATATAATATTTGTATAAACATGATTTAACTCATGGCACATCCAAATGTGTGAAATAAAGCAAATTATAGCTGGTTCTTTTCCTGTCTTTTCCTATTGAAATGGGAATCCTTTAAGGTGTAAAGGAAGCTGCTTGAAACTTTTACAGTGATACCTCAAATAAACTGATGATTTTTAAAAATTAAACTTTTACTTATCAAGACTCTGGGAAGTAGACAGTTAGGGCCAGGAGAAGATATTCAAGCAGCACGAGTGTGTCTCACTTGCCTGGTAATAACCTGAGTGTTAACAGTTTGTTTTCCATGAGGTGGAAAATGTAGATTCTAAAAATGATGTGTTGCATTTTCCATTGTTTTCGCCCCATCTTTCTTCCCTCTTCTGCAGGTCCACATGAAGGATGTTATGTCAGCTCTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTAGTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAGGCGATGCTGGCCAACTTCAAACCCCAGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGTGGTGTATGGGAAGAGGTAGTTCCATGTAAACAAGAATTCATAATGCTTTTCAGTATCTAAAACATAATTACATTTGATTTTTTTTTTTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGATATATTTCCTAAAGCTATCCCTCCCCTCTCCCTCCACCCCGCAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTACATTTTCTTAATCCAGTCTATCAATGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGCATTCCTAGTTCTAGATCCCTGAGGAATCGTCACACTGACTTCCACAAGGGTTTTTAAAAAATGTTTTAAATATTCTTTAGTAAACTAAAACTAGTGATGGCTACTTATAAAAAGAACTGTATGAAGCACATTAACTACTGATCACTTATTTACTTCCTTAGTTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGACCCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCAGCAGGTACCGTTCTGTGGCAAATTTTCCTTAAACAGCAGATCAAGTAATGTGTAATCTCAAGGTTTTACAGAATGACTCAGAGCCTTTTAAAGATACAATTTTATTATCTCTACATGACATTTTTAGTGTAGTTCTAGCTTCTGAGACCGTGGTTAGGAAAACCGTATTTTCTGTCAGTCCTTATTATCTCTGTATCTTCAGCACATAGCTGCTTTTAAGAACTACTGGAGAAGCAGTTACTTGATGACTTAATGTCAGGAGAGCAAACTTCAGTGATGCTTACCACTAAGTAGCTGTAGGGCCACACCTGGAACACAGCGTTTCTTTGCACCATGGTAGTCCCATCTTTGAAATTCATGCAGCTTAGAATTACAATATGTAATTATATAAAATATGTTATATAAGGCCGAGTGTGGTGGCTCACACCTGTAATCCCCGCAGTTTAGGAGGCTAAAGTGAGAGGAGCCTAGGAGTTCAAGACCAGCCTGGACAATGTAGGAGAGAAACTGTCTTTACTAAAAATCAAAAAAATTAGCCAGGCATAGTGGCATGCACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCTCTTGAGCCCAGGAGATCGAGACTGCTGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAAAAAAAAGAGAAGTTATGAGACTTTAGGAAATGCTACTTATATAGGCAATGGCTTAAAGTTATTTAGTATGGAAAATGCTTTACTTGACCTTTACAAGTTTGAAAACTGCTCTACTTTATCCAAAGCTCTCCCTTAAGGAGCTGATAGAAAAGATAGCCATTGAGGCATTGCCTTTGCTGGCTGCCTGTCTTTTCGCCGTGGTCCTGCTCCCTTGTCCACCTGATAAGTGTCATCTCATGTCATCCTAATTGTGGTCAGCAGCCCTCCTGCAGTCCTTATTTAATTGTGTTTGCTTGCCCAGCAACATTATCTTTAAAATTTTATTTTTTATTTTATTTTTCTTTTTAGAGATGGGATCTTGCAATGTTGCCCAGGCTATAAT
Task1_train_22960
Gene GAN (gigaxonin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Giant axonal neuropathy 1
ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTGTTTCAGCCCTTGCTCCTCTCCCTGTCTCCTTGCTCTAGGAGTCCCCATTGTCTATTTTTGCCATCTTTATGTTTCTCTAATTTTTATTAAGTGTATGAATATCAGCTTTCAATATGATCATTGGCCTTGTGTGTTCAGGGATCGCTAATGTAATTTCAGGCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGAGGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACCTGGACAAAGCAACCTGATTTGACCATGGTCAGAAAGGTGAGGACTGCATTTTGTGATAACTAGTCTGTGTACACATTGGATTTTAAACTTAATGTGTCTTCATATCCTGAATAAACCTTTAATATAACTGATGGTGTTAAAAGAATTAACTTTATAGAACTCTCTTTATCGGTAGTTTGCCTTCACTGTCATCAGCCACACACCAAGATAGGAAAGTGAGCGTGTGTGAGAGTTTATCCTGCTTGTGGGCCCTGTGCAGCACCGCTGTGTGTCAAGCTCCACATTTGAGTGTGCAAATGGTGCAGCAGCCACATCTTCCCAACCTATTTTCTTTCTGTCTTTCCCTCTCTTACTCTCTCTCTCTCTTTCCTTTTGTTGTTGAGAGAGGGTCTTACTCTGTTGCCCAGATTAGAGTGCGGTGGCGCCATCTTGGCTCACTGCAACCTCTTTCTGCCTCAAGCAATCCTCCCACCTCAGCCTACTGAATAGCTGGGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTTTTTTTAAGTAGAGATAGGGTTTCACTATGTTGCCCCGGCTGGTCTTGAACTCTTAGGCTGAAGCGATCCCCCATCTCTACAAAAAAGTTTTAAATAAAGTTAGCCGGGCACAGTGCTGTGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCGGAAGGATCTGTTGAGCCCAGGAGTTTGAAGCTGCAGTGAACTATGATGGCACCACTGCACTCCAGCCAAGGCAACTGAACGAGACCCTGTCTCTAATAAATAAATAAATAAAAATGAGGCTTTTGAACTTCTTTCAGTTAGTGAAATAGTATCAGTTGGAGTAAGAGCTCCTTTTCTGAAGATTAAGAATATGTGTCTTACTTTGCTCTTCTCATTTTAAAGTCCGGTGTTGTAATACTGAAAAGCACCATCGTTTTACGGTTAGAAATCAAACCCCTTCCTAAATCTCTTTAAGTATGGCCCAGACAGTTTAATATCTGTTCACCTGACCTGAATGAGAAATGTTGCCTCTCCCCCACCATTGTTCTCTGCTTTCAGATCGGCTGCTATGCAGCTATGAAAAAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGTTATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAGGTACGTGGCTGTGGGGTGGACTTTGTAGATTCCCTTGCTGTTCACTGGGTCTGGAGCCCCTTACCCTGCCTGGCTTTTGTTCTTTTCTTTCAGAGTAACCTTTTCTTTGACTTGGCATTTCCTGAGAAAGGAAGGCCCACGTAGTAATGCTGCAGAGTTAAACCAGCATAAGAGGAACGCGGGAGTGAGATCTCGCATTGTACAGCTTGTGCCTGATAACGCTGTGTGTGGCCTTTCAGGTTTGGAGCGGTGGCCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAAAGGTAACTAAGAATGGTTTCACATAGCTACTGCAACTTTTTCTTTGTGCTTTCAGTCGTATTTTAGCTTTGTTTAGTTTTGTTTTCAGTCACTTTATTAAATTATGGATTTAGGAGATAACGTCTCATGCATACTAGATATTTATTCAGTGACTTCACAAGTGCTAGTAACTTAAAATGTCTGCAAATAGAAAATATCTCTAATATGTAGATGAGATCTTGACGCTTAGTTGCTTAAAATCATTTATTGGCTCCCTATAGCTTTTAGGAAAAAGTTTAAAACTCCTTAACTTGTTGGGCATGGTGGCTCACACCTGTAGTCTCAACATTTAGGGAGGTAGAAACTGAAGATTGCTTGAGCCCAGGAGTTAGAGATTTGCCTGGGCCACATAACAAGACCCTGTTCTCCAAAGAAAAATAAATAAACTCCTTAACTTAGCATATATAGCCTTTTGTGATATGGCCTTTGCTTTTTCTGCTACTGACCCAGATACTTTATACCGAGCCACTTTCCCCTGCAAACATGTGTGGTTGTCTCAGCTCTGTTCGTATTGCTGCTACTTGCCTAAAAGCTCCCTTCCCGCTGTCCATCCAGTTAGCTTGGCCTTTTTCAAAACTGCTTAGTTATCAAAACCTAGAGAAAGCCTTCTCATGCCTCCTAGTCTGATTTTTTATCCCTTCATCTATGATTCCATGCCCTCCAGACAAGTCTCTGGGGTTGTAGCTGTTAACTGCAAGCAACTTCAGGGCAAGGTCCACCTTCGTCAGCTCTGTATCCTGGCTTCCAGCATCCTACCTGTCTGTATCAGATGCTTAGTAAAATGTTGATTAAGTGGCTGAGGCTTGATTTCTGAGATTCTTAAAACCTCTGACAAGTGCCACGTATGTCTTGTAGGGTAGATAACATCCTTCTCGATGTCTTCTCTCTTTCCTCACACATTTTATTGTTGTAACCACTGAGCAGTATTCTTATTGCAGTAATATGTTTAAATCCTAAGGGGAAATTGCTGTGCTAAACGTAATTTTATTAGAGTAGTTCAGTCGTGCTACCAGAAGAGGGTGCCATAACATAATGTTTAATTTCATGCTGTTTTAGATGAGGGCACGCAGTGAGCAGTTACAAAGATGCTGCAAATGCATGTAAATGCTGCCTAACATGTATTTTAAATTTAGGGTATTTGCATAGCCTTTTTTTTCAATTACAGGAATAGACTATCTTAGGAAAATTTATTAGAGAGCAGTTTAGAGAATACTTGCTGTGGTAGGGGCAGATTTTCAGACTTCTCTACATTTTTCCTTCCTTGATACATGACTGGGAGGGCTGATTGCCCAAGGGATGAAGTCTTTTTTTTTCTTTCTTTCTTTTTTGGAGACAGTCTCGCTCTGTCGCCCGGGCTAGAGTGCAGTGGCGTGATCTCGGCTTACTGCACCATCTGCCTCCCGGGTTCAAGCGATTCTTCCACCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACTATGTTTTCCAGGTTGGTCTCGAACTCCTGACTTAATGATCCGCCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTATCAGGTTGTTACATATTTGTACTGGATAAGCTTTTAATATAACTATCACTTGCTTTAAGTTCATAATAATTAAACGTAAGACTGTGGTTCCTTCTTTGCTGTTTAAAAGCACTTCTCGCCAGGTGCACTGGCTCCAGGCTATAATCCCAACACTTTGGGAGGCCGACGCGGGCAGATCACTTGAGGCCAGGAGTTCAAAACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAAAAAATTAGCCAGGCATAGTGGCACGTGTCTGTAGT
ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTGTTTCAGCCCTTGCTCCTCTCCCTGTCTCCTTGCTCTAGGAGTCCCCATTGTCTATTTTTGCCATCTTTATGTTTCTCTAATTTTTATTAAGTGTATGAATATCAGCTTTCAATATGATCATTGGCCTTGTGTGTTCAGGGATCGCTAATGTAATTTCAGGCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGAGGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACCTGGACAAAGCAACCTGATTTGACCATGGTCAGAAAGGTGAGGACTGCATTTTGTGATAACTAGTCTGTGTACACATTGGATTTTAAACTTAATGTGTCTTCATATCCTGAATAAACCTTTAATATAACTGATGGTGTTAAAAGAATTAACTTTATAGAACTCTCTTTATCGGTAGTTTGCCTTCACTGTCATCAGCCACACACCAAGATAGGAAAGTGAGCGTGTGTGAGAGTTTATCCTGCTTGTGGGCCCTGTGCAGCACCGCTGTGTGTCAAGCTCCACATTTGAGTGTGCAAATGGTGCAGCAGCCACATCTTCCCAACCTATTTTCTTTCTGTCTTTCCCTCTCTTACTCTCTCTCTCTCTTTCCTTTTGTTGTTGAGAGAGGGTCTTACTCTGTTGCCCAGATTAGAGTGCGGTGGCGCCATCTTGGCTCACTGCAACCTCTTTCTGCCTCAAGCAATCCTCCCACCTCAGCCTACTGAATAGCTGGGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTTTTTTTAAGTAGAGATAGGGTTTCACTATGTTGCCCCGGCTGGTCTTGAACTCTTAGGCTGAAGCGATCCCCCATCTCTACAAAAAAGTTTTAAATAAAGTTAGCCGGGCACAGTGCTGTGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCGGAAGGATCTGTTGAGCCCAGGAGTTTGAAGCTGCAGTGAACTATGATGGCACCACTGCACTCCAGCCAAGGCAACTGAACGAGACCCTGTCTCTAATAAATAAATAAATAAAAATGAGGCTTTTGAACTTCTTTCAGTTAGTGAAATAGTATCAGTTGGAGTAAGAGCTCCTTTTCTGAAGATTAAGAATATGTGTCTTACTTTGCTCTTCTCATTTTAAAGTCCGGTGTTGTAATACTGAAAAGCACCATCGTTTTACGGTTAGAAATCAAACCCCTTCCTAAATCTCTTTAAGTATGGCCCAGACAGTTTAATATCTGTTCACCTGACCTGAATGAGAAATGTTGCCTCTCCCCCACCATTGTTCTCTGCTTTCAGATCGGCTGCTATGCAGCTATGAAAAAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGTTATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAGGTACGTGGCTGTGGGGTGGACTTTGTAGATTCCCTTGCTGTTCACTGGGTCTGGAGCCCCTTACCCTGCCTGGCTTTTGTTCTTTTCTTTCAGAGTAACCTTTTCTTTGACTTGGCATTTCCTGAGAAAGGAAGGCCCACGTAGTAATGCTGCAGAGTTAAACCAGCATAAGAGGAACGCGGGAGTGAGATCTCGCATTGTACAGCTTGTGCCTGATAACGCTGTGTGTGGCCTTTCAGGTTTGGAGCGGTGACCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAAAGGTAACTAAGAATGGTTTCACATAGCTACTGCAACTTTTTCTTTGTGCTTTCAGTCGTATTTTAGCTTTGTTTAGTTTTGTTTTCAGTCACTTTATTAAATTATGGATTTAGGAGATAACGTCTCATGCATACTAGATATTTATTCAGTGACTTCACAAGTGCTAGTAACTTAAAATGTCTGCAAATAGAAAATATCTCTAATATGTAGATGAGATCTTGACGCTTAGTTGCTTAAAATCATTTATTGGCTCCCTATAGCTTTTAGGAAAAAGTTTAAAACTCCTTAACTTGTTGGGCATGGTGGCTCACACCTGTAGTCTCAACATTTAGGGAGGTAGAAACTGAAGATTGCTTGAGCCCAGGAGTTAGAGATTTGCCTGGGCCACATAACAAGACCCTGTTCTCCAAAGAAAAATAAATAAACTCCTTAACTTAGCATATATAGCCTTTTGTGATATGGCCTTTGCTTTTTCTGCTACTGACCCAGATACTTTATACCGAGCCACTTTCCCCTGCAAACATGTGTGGTTGTCTCAGCTCTGTTCGTATTGCTGCTACTTGCCTAAAAGCTCCCTTCCCGCTGTCCATCCAGTTAGCTTGGCCTTTTTCAAAACTGCTTAGTTATCAAAACCTAGAGAAAGCCTTCTCATGCCTCCTAGTCTGATTTTTTATCCCTTCATCTATGATTCCATGCCCTCCAGACAAGTCTCTGGGGTTGTAGCTGTTAACTGCAAGCAACTTCAGGGCAAGGTCCACCTTCGTCAGCTCTGTATCCTGGCTTCCAGCATCCTACCTGTCTGTATCAGATGCTTAGTAAAATGTTGATTAAGTGGCTGAGGCTTGATTTCTGAGATTCTTAAAACCTCTGACAAGTGCCACGTATGTCTTGTAGGGTAGATAACATCCTTCTCGATGTCTTCTCTCTTTCCTCACACATTTTATTGTTGTAACCACTGAGCAGTATTCTTATTGCAGTAATATGTTTAAATCCTAAGGGGAAATTGCTGTGCTAAACGTAATTTTATTAGAGTAGTTCAGTCGTGCTACCAGAAGAGGGTGCCATAACATAATGTTTAATTTCATGCTGTTTTAGATGAGGGCACGCAGTGAGCAGTTACAAAGATGCTGCAAATGCATGTAAATGCTGCCTAACATGTATTTTAAATTTAGGGTATTTGCATAGCCTTTTTTTTCAATTACAGGAATAGACTATCTTAGGAAAATTTATTAGAGAGCAGTTTAGAGAATACTTGCTGTGGTAGGGGCAGATTTTCAGACTTCTCTACATTTTTCCTTCCTTGATACATGACTGGGAGGGCTGATTGCCCAAGGGATGAAGTCTTTTTTTTTCTTTCTTTCTTTTTTGGAGACAGTCTCGCTCTGTCGCCCGGGCTAGAGTGCAGTGGCGTGATCTCGGCTTACTGCACCATCTGCCTCCCGGGTTCAAGCGATTCTTCCACCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACTATGTTTTCCAGGTTGGTCTCGAACTCCTGACTTAATGATCCGCCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTATCAGGTTGTTACATATTTGTACTGGATAAGCTTTTAATATAACTATCACTTGCTTTAAGTTCATAATAATTAAACGTAAGACTGTGGTTCCTTCTTTGCTGTTTAAAAGCACTTCTCGCCAGGTGCACTGGCTCCAGGCTATAATCCCAACACTTTGGGAGGCCGACGCGGGCAGATCACTTGAGGCCAGGAGTTCAAAACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAAAAAATTAGCCAGGCATAGTGGCACGTGTCTGTAGT
Task1_train_22961
Here’s a variant in GAN (gigaxonin) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Giant axonal neuropathy 1
CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGATCACTTGAGCCCTGGAACCTGAGATCAGCCTGGGTAGCATGGTGAGACCTCATCTCTATGGAAAAAAAAAAAATTCATTAGCTGGGTGTGGTGGTGTGCACCTGTGGTCCCAACTATTTGGGAGGGTGGGGTGAGAGGATCACTAGAGTCCAAGAGGTTGAGACTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGATGAGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATTCCATAAAATGACCAATAAGCTCAGGCAAAGATGCTCAACATCATTGGTCTTCAGGGAAGTATACGCCATTAAAGTAGCCAAAATTAAAAATATAATACTCAGATCTCACAGTGATACTGAGCAGTTGGAATTCTCATGCATTGCTAATTGGAGTGCAAAATTATGGCACAAAGCTTTGGAAAGCAGTGGGGCACTTTTTTTTTTTCCAGTAAACAATAACCTTACCATATAGCCCAGCAATTTCATAAGTCCGCAAAAAAGACTTGCTCTCTAATGTTCCTGACAGCCTTATTCATAACAGCCAAAAACTGGAACGTCAACAGGTGAATGAATAACAAATTCTGGGGCTGGACTCTGTGGCTTACGCCTGTTATACAGCATTTTAGGATGCTGAGGTGGGCAGATCACCTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAACATGGCAATATCCCATCTTTATACATACATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATACATATATGTGTATATGTATATACACACATATACATATATATGTGTATATGTGTATATATGTATGTATAAGTATATATTATATGTATGTATATGTATATATACATACATATATGTGTGTATATATGTGTGTATATATGTGTGTATATACATATGTGTATATGTGTATATATATGCACACGCATACACACACACACACACAGGAATTAGCTGAATGTGGTGGTGCACACCTGTAATCTCAGCTACTTGGAAGGCTGGGGTGGGAGGATCACCTGAACTGGTAGGTTGAGGCTGCAGTGAACCATAATTGTGCCACTGCACTCGGGAGGCCCTGTCTGAAAAACCAACAAATTCTGGTACATCCGTATGATGGAGTACTGCTTAGAAATAAACAGAAATGAATGACAGATGCAAACAACAGTGTGGATGAATCTCAGAAACCTTGTGCTGAGCAGAAGCAGGTTGGAAAGCACATGCTGTTTATGACTCAATACATGTTTCATTCTAGCACAGACAAAACTCCTATCTGTAGCGACTGGCAGCATGTCGGTGGTTACCTGGCAGTGGAACGTGGGGTCGAGATTGGCACAGTGCCTGATACTGCTGATGACTCACCAAGCTTGCTGTGTCAGTCTTCCTAGATGTTGTTGTCATCCTTTTGATTTCCTTAATTTTGTGCATGGGCTTTGTTTTCAGGTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTATGGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAGGTAAGAGTGTTACAGTGATTTTCTTGGAACTGTTTCCTGGTGATTCTGGGTACATTTTCTCACCCTTGCTTATTTCTGTGGCTTAGGTACCAATTACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACACTAAACCACTCCTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTTTTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGAGGAGGAAGCAGAGCAGAGTGCGAGATCCTGACCCAAGAGCACCATAACATAGCTCCGAAAGGGAGAGCAGAGATGGCAGCTGAAACTCACTCTGTGCTGGGCTTTGGTATGGTAACTCTTTGGTGGTTTTATGATGCTTACAAACTTGAGCTTTAGCTCTTGTTTGGGAGAACACGTAACTGTTGAAAAACTACCTGGGAGGAGTGAGTTCCTCCAGTTAAATGTGGCTGTAGATGTTGGAGGCTAGGGAGGCTAGTAAATATCAAAAGGAAAAGGGAGTGGGAATTGCTATCATGTAAAATATCAAAGTTAAAATACTAAGGTGCATTTTCCCTGAAGGGAACTCATGTCTGACTGCTGTATTCAAATACGTAGCTTTGGTAACAAACAAAATCCGTATATGCAAATCAACATATCCAAACATGCCAAGACTGCTTTTCCACTGCACTTGGAAGGATATATTATGCCTAACCCTGCCCAACAAATTAAGGTTTGTGCCTAAAATGTTAGATTGGACTGTATGCCAGTTAGTCTCCATTTATTCCTAGTACTCTGTCCTAAGAATCTTTTTAAAACTATATCATGATGAATTGAAATGAAGATAAAATTGCTCTTTTGTAACTTTATCTTAGTAATGTAAAGATTCAGTAAATTGATGAGTCAGGTTGCAGCCCTCATGTGAACTGAAAGAAGTTGCTCGCTTCTGTGTTGACTTAGATCAAGACACGTCACGCATCCTTTCTGGGGTAGTACCTGTGGAGCCGGGAAGGGTCTCCTGCAGTGCCATTCTGCCTTCTCAATGAGCAAAACCATTTTCTAAGTATGAGGATATTAGTGAGTAGGAGATTTTATAAAAGAAAGACCTGAGTCAGACAAATAATAAAGGTCTGCTGTGGCTAAAAAAGCAAAAACAAAAAAGCTATCCAGACAAAATACATAGGGATCAGAAACTTTTTCATATAACCTGTCTGAAAGCACACAAAGTCTTGTTTACTACTGTTTAGGGTTTGAAAACTTGTCTTAGAATGCGAATCTGTGTTAAGAATCTAGTCTTTGTAATAGAAGTTTCCCAGTGGCATTCACTAGTGAGAGTTTTAGACAAATTATGTTACGAGTAAAGTTTGGCTGGTAGAATAAACTACCTCAACTTAATTTCATTCTGTTCATAGTAGAGCAAATTAATCTTTTCCTCCTTCCCTCCTTTCCTATCTCTCATTCTCACCTCAACCCACTTTACCCCACTTCTCATTGGGGGAAAAATGTCTTTCGTTCGTGGAACGTATCTTGTAAGATATTTTGTTTTCCACTTGAATTACACCACCCTAGTGTGAAATCGGGGACTTCAAAGTGCTTGATTCCTTCCTAAATTGAATTTTATGCAATGTCAAATTTCTAATCAATTTAATATACAGTACTTCATTTTTAATTGTTTTCTAAAAAAAAGGTTTTTTTTTTCCTTTTGGAATATGGCTGTAAGAAGCAGCATTTTGTCTTATTAACACATGTATAAAGGTATCCTTTGGTTTTAAGTCGAGAACAGGAATTTCTTCTAGAAACTTCCTGTATGGAACGTTTATATGCAATTAACATGCATATGAAAAACATCACTTACGTTCTCCCACCCATAGACATAAAAAAGGGTGACCTGTGATTTTTTTTCTTATACCTGCTGGAAGTCAGTACAATGCGTCAAAAGTTGCTGAAAGATGCTGTGCCTATGGGGTTCTAGAGAGTGTTGAGTGTGGTACATTAACTCTCCATTTTAGCCAGAAGATACCTGATAAGAGAAGGTGTAAGGTTTTTATCTTATATGCCAGAGGCACCAGGCCAGATGTGCCGCACAGTCATGTAATTCAATCATGTTTAATATGTCAGTCAAAACCAAATTCAGAATTGTTTTGTGTACCAGTCAGCTGTTGTCTG
CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGATCACTTGAGCCCTGGAACCTGAGATCAGCCTGGGTAGCATGGTGAGACCTCATCTCTATGGAAAAAAAAAAAATTCATTAGCTGGGTGTGGTGGTGTGCACCTGTGGTCCCAACTATTTGGGAGGGTGGGGTGAGAGGATCACTAGAGTCCAAGAGGTTGAGACTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGATGAGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAATTCCATAAAATGACCAATAAGCTCAGGCAAAGATGCTCAACATCATTGGTCTTCAGGGAAGTATACGCCATTAAAGTAGCCAAAATTAAAAATATAATACTCAGATCTCACAGTGATACTGAGCAGTTGGAATTCTCATGCATTGCTAATTGGAGTGCAAAATTATGGCACAAAGCTTTGGAAAGCAGTGGGGCACTTTTTTTTTTTCCAGTAAACAATAACCTTACCATATAGCCCAGCAATTTCATAAGTCCGCAAAAAAGACTTGCTCTCTAATGTTCCTGACAGCCTTATTCATAACAGCCAAAAACTGGAACGTCAACAGGTGAATGAATAACAAATTCTGGGGCTGGACTCTGTGGCTTACGCCTGTTATACAGCATTTTAGGATGCTGAGGTGGGCAGATCACCTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAACATGGCAATATCCCATCTTTATACATACATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATACATATATGTGTATATGTATATACACACATATACATATATATGTGTATATGTGTATATATGTATGTATAAGTATATATTATATGTATGTATATGTATATATACATACATATATGTGTGTATATATGTGTGTATATATGTGTGTATATACATATGTGTATATGTGTATATATATGCACACGCATACACACACACACACACAGGAATTAGCTGAATGTGGTGGTGCACACCTGTAATCTCAGCTACTTGGAAGGCTGGGGTGGGAGGATCACCTGAACTGGTAGGTTGAGGCTGCAGTGAACCATAATTGTGCCACTGCACTCGGGAGGCCCTGTCTGAAAAACCAACAAATTCTGGTACATCCGTATGATGGAGTACTGCTTAGAAATAAACAGAAATGAATGACAGATGCAAACAACAGTGTGGATGAATCTCAGAAACCTTGTGCTGAGCAGAAGCAGGTTGGAAAGCACATGCTGTTTATGACTCAATACATGTTTCATTCTAGCACAGACAAAACTCCTATCTGTAGCGACTGGCAGCATGTCGGTGGTTACCTGGCAGTGGAACGTGGGGTCGAGATTGGCACAGTGCCTGATACTGCTGATGACTCACCAAGCTTGCTGTGTCAGTCTTCCTAGATGTTGTTGTCATCCTTTTGATTTCCTTAATTTTGTGCATGGGCTTTGTTTTCAGGTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTATGGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAGGTAAGAGTGTTACAGTGATTTTCTTGGAACTGTTTCCTGGTGATTCTGGGTACATTTTCTCACCCTTGCTTATTTCTGTGGCTTAGGTACCAATTACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACAGTAAACCACTCCTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTTTTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGAGGAGGAAGCAGAGCAGAGTGCGAGATCCTGACCCAAGAGCACCATAACATAGCTCCGAAAGGGAGAGCAGAGATGGCAGCTGAAACTCACTCTGTGCTGGGCTTTGGTATGGTAACTCTTTGGTGGTTTTATGATGCTTACAAACTTGAGCTTTAGCTCTTGTTTGGGAGAACACGTAACTGTTGAAAAACTACCTGGGAGGAGTGAGTTCCTCCAGTTAAATGTGGCTGTAGATGTTGGAGGCTAGGGAGGCTAGTAAATATCAAAAGGAAAAGGGAGTGGGAATTGCTATCATGTAAAATATCAAAGTTAAAATACTAAGGTGCATTTTCCCTGAAGGGAACTCATGTCTGACTGCTGTATTCAAATACGTAGCTTTGGTAACAAACAAAATCCGTATATGCAAATCAACATATCCAAACATGCCAAGACTGCTTTTCCACTGCACTTGGAAGGATATATTATGCCTAACCCTGCCCAACAAATTAAGGTTTGTGCCTAAAATGTTAGATTGGACTGTATGCCAGTTAGTCTCCATTTATTCCTAGTACTCTGTCCTAAGAATCTTTTTAAAACTATATCATGATGAATTGAAATGAAGATAAAATTGCTCTTTTGTAACTTTATCTTAGTAATGTAAAGATTCAGTAAATTGATGAGTCAGGTTGCAGCCCTCATGTGAACTGAAAGAAGTTGCTCGCTTCTGTGTTGACTTAGATCAAGACACGTCACGCATCCTTTCTGGGGTAGTACCTGTGGAGCCGGGAAGGGTCTCCTGCAGTGCCATTCTGCCTTCTCAATGAGCAAAACCATTTTCTAAGTATGAGGATATTAGTGAGTAGGAGATTTTATAAAAGAAAGACCTGAGTCAGACAAATAATAAAGGTCTGCTGTGGCTAAAAAAGCAAAAACAAAAAAGCTATCCAGACAAAATACATAGGGATCAGAAACTTTTTCATATAACCTGTCTGAAAGCACACAAAGTCTTGTTTACTACTGTTTAGGGTTTGAAAACTTGTCTTAGAATGCGAATCTGTGTTAAGAATCTAGTCTTTGTAATAGAAGTTTCCCAGTGGCATTCACTAGTGAGAGTTTTAGACAAATTATGTTACGAGTAAAGTTTGGCTGGTAGAATAAACTACCTCAACTTAATTTCATTCTGTTCATAGTAGAGCAAATTAATCTTTTCCTCCTTCCCTCCTTTCCTATCTCTCATTCTCACCTCAACCCACTTTACCCCACTTCTCATTGGGGGAAAAATGTCTTTCGTTCGTGGAACGTATCTTGTAAGATATTTTGTTTTCCACTTGAATTACACCACCCTAGTGTGAAATCGGGGACTTCAAAGTGCTTGATTCCTTCCTAAATTGAATTTTATGCAATGTCAAATTTCTAATCAATTTAATATACAGTACTTCATTTTTAATTGTTTTCTAAAAAAAAGGTTTTTTTTTTCCTTTTGGAATATGGCTGTAAGAAGCAGCATTTTGTCTTATTAACACATGTATAAAGGTATCCTTTGGTTTTAAGTCGAGAACAGGAATTTCTTCTAGAAACTTCCTGTATGGAACGTTTATATGCAATTAACATGCATATGAAAAACATCACTTACGTTCTCCCACCCATAGACATAAAAAAGGGTGACCTGTGATTTTTTTTCTTATACCTGCTGGAAGTCAGTACAATGCGTCAAAAGTTGCTGAAAGATGCTGTGCCTATGGGGTTCTAGAGAGTGTTGAGTGTGGTACATTAACTCTCCATTTTAGCCAGAAGATACCTGATAAGAGAAGGTGTAAGGTTTTTATCTTATATGCCAGAGGCACCAGGCCAGATGTGCCGCACAGTCATGTAATTCAATCATGTTTAATATGTCAGTCAAAACCAAATTCAGAATTGTTTTGTGTACCAGTCAGCTGTTGTCTG
Task1_train_22962
This mutation occurs in PLCG2 (phospholipase C gamma 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCACGCCCGGCCTTTGTCCATTTTTAAATTGGGTCATTTATTTTCTTACTATTGAGCTGTTTGACTTCCTTATATATTTTGGATATTGACCCCTTACCAGATGTTCAGTTTGCAGATGTTTTTCCCATTCTGTAGGTTGTTTATTTACTCTGTTGATTCTTTCCTTGGCTATGTAGAAGCCTCTTAGTTTGATAAAATCCCATTTATCCACTTTCACTTTTGTTGCCTGTGCTTTTGGGGTCATATCTGAAAAATAATTGCCCAGACCAATGCTACGGAGGTTTTCCTCTCTGTTTTCTTCTAGTAGTTTTACAGTTTCAGGTCTTATGTTTAAGTCTTTAATCCATTTTGAGCTGCTTTTTTTGTTTATGGTGTGAGATAATGGTCTAGTTTTCTTCTTTCGAAATTGCTATTATTTCTATATAGGAATTTATTTCAAAATTCTTTTAATTTTTTTAAATCTAGGTTTCCCAACCCTACTTATTTAACAGACTGTCCTTTCCCCCTGGTGTGTTCTAGACATCTTTATTGAAGATCAGTTGACTGTAAATGCATGGATTTATTTCTTGGCTATCTATTCTGTTCCACTGGTCTGTGTGTCTGTTTTTATGCCACTGTTGTGCTATTTTTATTACTATAGCTTTGTAGTATATTTTGAAGTAAGATAGTGTGCTATCTGCAGCTTTGTTATTTTTGCTCAAAATTGCTTTGGCTATTTGGGGTAGACATTTTTAAAAAGACCCTCTTGGCTGTAAACTTAGGGTCAAAAATATTTTTCCAGATGTTTCTGTCTTGCTGATAAAAGCTAATAAAACCAAGGAGGCTCTTCTGTTTTGGATTTTTTCTGCTTCATGTTTCAAACAGATGAAGGAATGAAAGACTTGTTTCTTTTTTTTTTTAAAAAAAGTCACTGTTTTGCTAGTTGAGTCACCGAAGACAAGATTTAATAATTTTGAGGTGGGGGGGATTGGCAAACATTTTCTGTGAAGGACCACAGAGTGAATATTTTAGGTTTTGCAGGCCATATGGTCTCTGTTGCAGCTACACAACTCTGCTGTTACAGTGTGAAAACAGTCCCAGACAATGTATAAACAAATGAACTGTAGCTGTGTTTCAATAAAGCTTTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGCATGTCAACCCTGTGTTCTTCCTGCTCCAGGGCTAGGGGCAAGGTAAAGCATTGTCGCATCAACCGGGACGGCCGGCACTTTGTGCTGGGGACCTCCGCCTATTTTGAGAGTCTGGTGGAGCTCGTCAGTTACTACGAGAAGCATTCACTCTACCGAAAGATGAGACTGCGCTACCCCGTGACCCCCGAGCTCCTGGAGCGCTACAATATGGTAGGTGGTGGACTCCCTTGTGATTTGGTGGGATTTCTTGTCTGAGGTTGTAACTCATCTGTTCATGAATTCAGCAAACCTCTGAGTATTCACCATGTATCTGATACTGCTGTAGGTCCTGGGGATACAAATTGAGCACAACAAAGACCCTGCCGTTGTGCTGCTTATAGTGTAGTGTTGGGGAGATGCAACAAATGACATTTAAAATATCCATAGCATGTGCCAGATGGTGATGAGTGCTATGGAGAAAAACACTGGGCAGGTGGATAAGAGGATACAGAGTGATGGGGAAGGGGTTGAAGTTTTCAGAGGGTGGTCTAGGAAGATCTCACTGAAAAGGAATGAGCCATGTGGGTATGTTCTGGAGGAAGAGAGGATAGCATGCGCAAAGGTCCTGAGGTAGAAGCCTGCCTGGAGGCACCAAGAGGAAGTCAGCATGGCCGGAATCAAGCCAGCCCAGGTGGGGGTAGAGCTAAATAAGGATGAGGGTTCACAGGTGACTTATCATGCAGGGGCTCATAGGCCATTGTAAGGCCCTGGCTTTTTCTCTGAGTCATTGGAGAGTTCTGGGTGCAGGAGAGACCTGATGTGGTTACTTTGTCTCCATTCCTACCACATAGATCATTAATTTATTGAAGAGAGATTTATGGCATCCCGATCATGTGCCAAGGACTGTTCTAGATACTAGGAGTACTGTGGAACAAAATCTGCTTTGGGAAATTTAGGTTCTGGAGAGGAGAGACAGATAATATACACAATTAAGATGTTTTCAGGTAGCATGAAATATAATAAAGCAAAGAAAACAGGATAGTGTGAAAAGGGGTGGACACTACCTTAGGCTGTGGGAGTGGAGATCAGAGAAGGCCACCTTAAAAGGGGAGAAATGTGAGCCGAAACATGGAAGATAGCAGTGAATGGGATCTGGGGAGAAGTGAATGAAGGGGTGACTCTAGGTACAGGAGTGGCCACATCACAAGCCCTAAGGTGACATGAGGAACAGAAAGAAGAGTTAGAGAGGAACAGAGAGGTGGTGGGGGTGGATCTTGTCAGTGGTGTGCTAGTAAATGTTCAAACAGCTCTCAGCGGGGTAGGGGGAAGGCACTGGTTTGTAGCATTTGCCAGTTTCCATGGTGTAAATACTTCCATGGAGGTCAGTTTCAAGTTGTTGATGTGCTGTCGTTGAACCTGGAACGTGGAGTCAGGAAGTGATGTACACAGTGGGCTTTTGTGAGCCGGGAGGTCACTCCAGCACACCATCGCATCTTAGGATTTGTGCTTTTACAAAGGAACGCAGTGCCTGGCACGCAGCAGGCCAGGACAGGGCCTCTCTGATTTTGGGTTAGTTTCCAAGTCTGGGGACCTTCTTTATAGCTTCTTCCTGTGTCTACTCATGGGCCAAAAGAAAATTCTATGAGGTTTCAACTCCTCTATCAAAGGATAGGTAACCATAAGGAAGCCTAGAACCCTTGTTATATGTAAGGGCTATTCCAGGAGCATGGATTATTCCATTTCTTTCTTTCTTTTTTTTTCCAGGAAAGAGATATAAACTCCCTCTACGACGTCAGCAGAATGTATGTGGATCCCAGTGAAATCAATCCGTCCATGGTACGGTGCCGAACCTCCAATTCACATGATTTTGGAGTCACGAGGCTGATGTGGATTCCATCTTGTTCCCATGGCAGTTATAACAGGGCAAGGGAAGACTTTGGAAAACCTGGCCAAAATAATTTTTTTTTTTTTTTGAGAAGAAAGGATGATTGATAATATCAAGCCTAGTTTCAGGGAAAATGTTAATAGAATTCCATCCAAATGCAACAGTGTTTTGCTAAAATTCTGAGGTTTGACGAACCACCTTTGGGCCAAATGGCTTCTAATGAAAAGTCTTTCAAATGTTTTTGGCTCGCTGACAGAGCCTGTGGTGTTTATAAATTC
CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCACGCCCGGCCTTTGTCCATTTTTAAATTGGGTCATTTATTTTCTTACTATTGAGCTGTTTGACTTCCTTATATATTTTGGATATTGACCCCTTACCAGATGTTCAGTTTGCAGATGTTTTTCCCATTCTGTAGGTTGTTTATTTACTCTGTTGATTCTTTCCTTGGCTATGTAGAAGCCTCTTAGTTTGATAAAATCCCATTTATCCACTTTCACTTTTGTTGCCTGTGCTTTTGGGGTCATATCTGAAAAATAATTGCCCAGACCAATGCTACGGAGGTTTTCCTCTCTGTTTTCTTCTAGTAGTTTTACAGTTTCAGGTCTTATGTTTAAGTCTTTAATCCATTTTGAGCTGCTTTTTTTGTTTATGGTGTGAGATAATGGTCTAGTTTTCTTCTTTCGAAATTGCTATTATTTCTATATAGGAATTTATTTCAAAATTCTTTTAATTTTTTTAAATCTAGGTTTCCCAACCCTACTTATTTAACAGACTGTCCTTTCCCCCTGGTGTGTTCTAGACATCTTTATTGAAGATCAGTTGACTGTAAATGCATGGATTTATTTCTTGGCTATCTATTCTGTTCCACTGGTCTGTGTGTCTGTTTTTATGCCACTGTTGTGCTATTTTTATTACTATAGCTTTGTAGTATATTTTGAAGTAAGATAGTGTGCTATCTGCAGCTTTGTTATTTTTGCTCAAAATTGCTTTGGCTATTTGGGGTAGACATTTTTAAAAAGACCCTCTTGGCTGTAAACTTAGGGTCAAAAATATTTTTCCAGATGTTTCTGTCTTGCTGATAAAAGCTAATAAAACCAAGGAGGCTCTTCTGTTTTGGATTTTTTCTGCTTCATGTTTCAAACAGATGAAGGAATGAAAGACTTGTTTCTTTTTTTTTTTAAAAAAAGTCACTGTTTTGCTAGTTGAGTCACCGAAGACAAGATTTAATAATTTTGAGGTGGGGGGGATTGGCAAACATTTTCTGTGAAGGACCACAGAGTGAATATTTTAGGTTTTGCAGGCCATATGGTCTCTGTTGCAGCTACACAACTCTGCTGTTACAGTGTGAAAACAGTCCCAGACAATGTATAAACAAATGAACTGTAGCTGTGTTTCAATAAAGCTTTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGCATGTCAACCCTGTGTTCTTCCTGCTCCAGGGCTAGGGGCAAGGTAAAGCATTGTCGCATCAACCGGGACGGCCGGCACTTTGTGCTGGGGACCTACGCCTATTTTGAGAGTCTGGTGGAGCTCGTCAGTTACTACGAGAAGCATTCACTCTACCGAAAGATGAGACTGCGCTACCCCGTGACCCCCGAGCTCCTGGAGCGCTACAATATGGTAGGTGGTGGACTCCCTTGTGATTTGGTGGGATTTCTTGTCTGAGGTTGTAACTCATCTGTTCATGAATTCAGCAAACCTCTGAGTATTCACCATGTATCTGATACTGCTGTAGGTCCTGGGGATACAAATTGAGCACAACAAAGACCCTGCCGTTGTGCTGCTTATAGTGTAGTGTTGGGGAGATGCAACAAATGACATTTAAAATATCCATAGCATGTGCCAGATGGTGATGAGTGCTATGGAGAAAAACACTGGGCAGGTGGATAAGAGGATACAGAGTGATGGGGAAGGGGTTGAAGTTTTCAGAGGGTGGTCTAGGAAGATCTCACTGAAAAGGAATGAGCCATGTGGGTATGTTCTGGAGGAAGAGAGGATAGCATGCGCAAAGGTCCTGAGGTAGAAGCCTGCCTGGAGGCACCAAGAGGAAGTCAGCATGGCCGGAATCAAGCCAGCCCAGGTGGGGGTAGAGCTAAATAAGGATGAGGGTTCACAGGTGACTTATCATGCAGGGGCTCATAGGCCATTGTAAGGCCCTGGCTTTTTCTCTGAGTCATTGGAGAGTTCTGGGTGCAGGAGAGACCTGATGTGGTTACTTTGTCTCCATTCCTACCACATAGATCATTAATTTATTGAAGAGAGATTTATGGCATCCCGATCATGTGCCAAGGACTGTTCTAGATACTAGGAGTACTGTGGAACAAAATCTGCTTTGGGAAATTTAGGTTCTGGAGAGGAGAGACAGATAATATACACAATTAAGATGTTTTCAGGTAGCATGAAATATAATAAAGCAAAGAAAACAGGATAGTGTGAAAAGGGGTGGACACTACCTTAGGCTGTGGGAGTGGAGATCAGAGAAGGCCACCTTAAAAGGGGAGAAATGTGAGCCGAAACATGGAAGATAGCAGTGAATGGGATCTGGGGAGAAGTGAATGAAGGGGTGACTCTAGGTACAGGAGTGGCCACATCACAAGCCCTAAGGTGACATGAGGAACAGAAAGAAGAGTTAGAGAGGAACAGAGAGGTGGTGGGGGTGGATCTTGTCAGTGGTGTGCTAGTAAATGTTCAAACAGCTCTCAGCGGGGTAGGGGGAAGGCACTGGTTTGTAGCATTTGCCAGTTTCCATGGTGTAAATACTTCCATGGAGGTCAGTTTCAAGTTGTTGATGTGCTGTCGTTGAACCTGGAACGTGGAGTCAGGAAGTGATGTACACAGTGGGCTTTTGTGAGCCGGGAGGTCACTCCAGCACACCATCGCATCTTAGGATTTGTGCTTTTACAAAGGAACGCAGTGCCTGGCACGCAGCAGGCCAGGACAGGGCCTCTCTGATTTTGGGTTAGTTTCCAAGTCTGGGGACCTTCTTTATAGCTTCTTCCTGTGTCTACTCATGGGCCAAAAGAAAATTCTATGAGGTTTCAACTCCTCTATCAAAGGATAGGTAACCATAAGGAAGCCTAGAACCCTTGTTATATGTAAGGGCTATTCCAGGAGCATGGATTATTCCATTTCTTTCTTTCTTTTTTTTTCCAGGAAAGAGATATAAACTCCCTCTACGACGTCAGCAGAATGTATGTGGATCCCAGTGAAATCAATCCGTCCATGGTACGGTGCCGAACCTCCAATTCACATGATTTTGGAGTCACGAGGCTGATGTGGATTCCATCTTGTTCCCATGGCAGTTATAACAGGGCAAGGGAAGACTTTGGAAAACCTGGCCAAAATAATTTTTTTTTTTTTTTGAGAAGAAAGGATGATTGATAATATCAAGCCTAGTTTCAGGGAAAATGTTAATAGAATTCCATCCAAATGCAACAGTGTTTTGCTAAAATTCTGAGGTTTGACGAACCACCTTTGGGCCAAATGGCTTCTAATGAAAAGTCTTTCAAATGTTTTTGGCTCGCTGACAGAGCCTGTGGTGTTTATAAATTC
Task1_train_22963
A variant has been detected on Chromosome 16 in LOC130059554, MLYCD (ATAC-STARR-seq lymphoblastoid silent region 7769| malonyl-CoA decarboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Deficiency of malonyl-CoA decarboxylase
GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTTCTTAGAAAAGAGGAATGGAGAGGTGTCCTCAAAAGCCACCACTAGGCTTTCAGAATGTTTTGTGTGTCTGTGTCTTGGCAGAATGAGCCAAACGTACTTTCTTCGTGCCCCATAAGATGAGACACACCCAGCAAAGGCTGTCCTCATACAGAACTACCTCCAGGTGTCTTTTATACTGCAAGACCTGCACCAAAGGGTTCTACCTATAGAAATCCTAGCACCTAGACATAGTCAACCAAGTACATGGCTCCCTCACCCTCCAACCAAAGATGCCATATTTCCATCAGAGTGGAACAAAATCCCACTGTGTTCCTAATGCCTCCTGCAATTTTGCATGTGGGAGACATGGCTGGTATGTGACATTCTCTTCTACAGATTGTAATGGATTGGGGAAGGAGGGGGAACTAGAGTTCAGGCCTATCTTTCTAGAGGACAAAATAAATATGCCTTGATAACTGCAATTATCTGAAAACTATTTCAAAGAAAACTCTTTGTCTCATTCTGGCATTTGCTCAAGGGTATGGCTTTCCATCAGTCTCTCTGTCTCCATGTCTCTTTTACATACATATGTATGTGTATATGCGTGCGTATGTGTACATACATCCATACATATAGACATATTCTCTCTCTCTCCACACACACTCACACACCCCTCCAACCTCTGTGGCTCTGAGCGTCATGTGTGTAAGACACTGACGCGAATGGTGAGTGCCTAGGCAGGGGTCAAACAAAGGCTACCTACCATGCCAGAGGATTGCCACAAACACCTCTTAAGCAAGCATATTCCTTGGCTCCTCCCAGACACACTGAATCTGAATCTCTAGGATTCTGATTTCGGAGCCCAGGAATCCTCCGGTGCAGGAGTTCCCAGGTGACTCTGATGCACCGGGAGGCTGGAGGCGCTCGGATCTAGAGAGGAGGCGGCACTTGTGCAGTGCAGTCGGGAAAGAGAGGAGGGGCTGGGCCGGTGCCTTTAGGCGGTCAGGTGTTAGGACCGGAGTACAAGCCGCCAGCCGCGCGGGAGCAGGCCCCGAGGCAGCCCAGCCGCGGGGCAGTAACCTTTAGCCACACTTGGCCTCCGGCCGCCGCCAGAGCCGCTCCGCCCCCGCCGCCTCGCCCCCACCGCCCCGCCCTCCTATTGGCCGCGTCCCCAGCCGGGCTCGCGGCCTCGGCCAATGGGGCCGGCGCGCGCCGGAAGCCGGAAGCGCGGCAGCGGCGGCGGCGCTCCCCCTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCTCCTCCCGCTGCGGTTGCCCCCGCGGCCGCCCGGGCCCCGGCTGGCGAGCGGGCAGGCGGCCGGCGCCCTGGAGCGGGCCATGGACGAGCTGCTGCGCCGCGCGGTGCCGCCGACGCCGGCCTACGAGCTGCGCGAGAAGACACCGGCGCCCGCCGAGGGTCAGTGCGCGGACTTCGTGAGCTTCTACGGTGGGCTGGCCGAGACGGCCCAGCGGGCCGAACTGCTGGGCCGCCTGGCGCGGGGCTTCGGCGTGGACCACGGCCAGGTGGCGGAGCAGAGCGCCGGCGTGCTCCATCTGCGCCAGCAGCAGCGGGAGGCGGCGGTGCTGCTGCAGGCCGAGGACCGGCTGCGCTACGCGCTGGTGCCGCGCTATCGCGGCCTCTTCCACCACATCAGCAAGCTGGACGGCGGCGTGCGCTTCCTGGTGCAGCTGCGGGCCGACCTGCTGGAGGCGCAGGCCCTCAAGCTGGTGGAGGGGCCGGACGTCCGGGTAAGGGGCCGCCGTCGATCCCCCGGCAGCGCGGACTGGCCGCCCTCCTCGAGTAGTCCTCACTTGCCCCCTCCAAGTCCCACACACCCCGCCTTCCCTGCCCGATAGCACGCTCACTTCGCCCGCAGTTACCGCCTGCCAACTGTGTCCCCTTCCCACGCTGTCTGAGTCCTGGCCTCGTCAGAGCACACCCCCGCCTTCCTCCAGTCTGTCCTTGAAGTCCTCACTTGTATAGTGTTTACTAAATACTCAGCACTTGGTGGTCTTTAAGGTAGCTGTCACCTCTCGTACCTGATTAGTGTGTGCTCTACAGTCTTTTGAAATTATTGTAGCTGAGAAGTGTTTCATCTATATGGTATACCTGAACTAGAGCATCAGGCAGCCTTCTGAGACCCTGGATGGTGTTTCAGAAGTTCACTGGGCACCCGCTATGTGTGAGACATTGTCCTGAGAAGTCCTGTGAAATGCACAAAGGTAAATAGGACTCAAGGTCACCACCACCACCCAGGAGTCTCCATGGCTTCTGGCCTTGTCTGTGCTCCATGACTTTTGGGAGGGCATTTAACTCCCTGCGTTCAGTACTTAATGTGATGATTCTGAGTTGACTTGAGGTAATCAGGCATTAGCACAGTTCATTCATGTTAAATGCAGACACATACTTTGAGATTTAAATGATTATGACCCGAAAGAAGGCCTAGAGCAACATATACTCTTCTTTTATACTGTTAGTATTAAATACGGCGAAAAACTAACCTGCCCTTTTTTTATTTTTATTTTTGTTGCCCAGACTGGAGTACAGTGGTGTTATCACGGCTCACTGCAGCCTCGACTTCCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCAGGCCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAGGGCGTTTCACCATGTGGCCCAGGCTTAACCTGCCCTTTTAATGAACGAAAAATGACGTAAATGTTTCAGGAAGTTTTGGACATTCAGAAGTTTGTTATGTGCAGTTGGTGTTAAAAAAAAATTGAACACTTGAATGATTATGACTTGACCCATTTAAGAACTCTAATACTGGTTTAATAGTTTACATTCCTTCAGTCTTACGTGGGTGATAACACGTATCCCTTTTACAGTAAAGGAGAACATGCTGAGGTTGTGTTACTTGTCCTGAAATTCAGAGCGAAAAGCTCTTGCTGATCACCCACCCTAATCCAGGGTTATTTGCACTACGCTTTATATCACTGTCTTACCGTTAATCAGATGTTTATTAGAAACTTTCTTTTTTGGCTACTTAGATGCATAAAATTGGGCATAATTAAGTATGGGATTAATGTCAAGAGTGACAACAGTGGCCATGATTTGATTCCCCGTGATAGCTGGTTAATTTACAGCGCTAAGTGTTACTGAGGGCCAGGCATCTTTGGCCGTAAGATTCTCAGACAGAAAGCCCACAGTTGCTAATTGCATGACACAGAATCAGTCATGAATTCTTACTGTGTTGAATTATCATGTTCTGGGCTCAAGCCTAGTCTGAATAGCTGAGTTTTTCTGATCCACACTTGGACATAGTACTTGCAGTATATCATCCCCCCATGTAAA
GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTTCTTAGAAAAGAGGAATGGAGAGGTGTCCTCAAAAGCCACCACTAGGCTTTCAGAATGTTTTGTGTGTCTGTGTCTTGGCAGAATGAGCCAAACGTACTTTCTTCGTGCCCCATAAGATGAGACACACCCAGCAAAGGCTGTCCTCATACAGAACTACCTCCAGGTGTCTTTTATACTGCAAGACCTGCACCAAAGGGTTCTACCTATAGAAATCCTAGCACCTAGACATAGTCAACCAAGTACATGGCTCCCTCACCCTCCAACCAAAGATGCCATATTTCCATCAGAGTGGAACAAAATCCCACTGTGTTCCTAATGCCTCCTGCAATTTTGCATGTGGGAGACATGGCTGGTATGTGACATTCTCTTCTACAGATTGTAATGGATTGGGGAAGGAGGGGGAACTAGAGTTCAGGCCTATCTTTCTAGAGGACAAAATAAATATGCCTTGATAACTGCAATTATCTGAAAACTATTTCAAAGAAAACTCTTTGTCTCATTCTGGCATTTGCTCAAGGGTATGGCTTTCCATCAGTCTCTCTGTCTCCATGTCTCTTTTACATACATATGTATGTGTATATGCGTGCGTATGTGTACATACATCCATACATATAGACATATTCTCTCTCTCTCCACACACACTCACACACCCCTCCAACCTCTGTGGCTCTGAGCGTCATGTGTGTAAGACACTGACGCGAATGGTGAGTGCCTAGGCAGGGGTCAAACAAAGGCTACCTACCATGCCAGAGGATTGCCACAAACACCTCTTAAGCAAGCATATTCCTTGGCTCCTCCCAGACACACTGAATCTGAATCTCTAGGATTCTGATTTCGGAGCCCAGGAATCCTCCGGTGCAGGAGTTCCCAGGTGACTCTGATGCACCGGGAGGCTGGAGGCGCTCGGATCTAGAGAGGAGGCGGCACTTGTGCAGTGCAGTCGGGAAAGAGAGGAGGGGCTGGGCCGGTGCCTTTAGGCGGTCAGGTGTTAGGACCGGAGTACAAGCCGCCAGCCGCGCGGGAGCAGGCCCCGAGGCAGCCCAGCCGCGGGGCAGTAACCTTTAGCCACACTTGGCCTCCGGCCGCCGCCAGAGCCGCTCCGCCCCCGCCGCCTCGCCCCCACCGCCCCGCCCTCCTATTGGCCGCGTCCCCAGCCGGGCTCGCGGCCTCGGCCAATGGGGCCGGCGCGCGCCGGAAGCCGGAAGCGCGGCAGCGGCGGCGGCGCTCCCCCTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCTCCTCCCGCTGCGGTTGCCCCCGCGGCCGCCCGGGCCCCGGCTGGCGAGCGGGCAGGCGGCCGGCGCCCTGGAGCGGGCCACGGACGAGCTGCTGCGCCGCGCGGTGCCGCCGACGCCGGCCTACGAGCTGCGCGAGAAGACACCGGCGCCCGCCGAGGGTCAGTGCGCGGACTTCGTGAGCTTCTACGGTGGGCTGGCCGAGACGGCCCAGCGGGCCGAACTGCTGGGCCGCCTGGCGCGGGGCTTCGGCGTGGACCACGGCCAGGTGGCGGAGCAGAGCGCCGGCGTGCTCCATCTGCGCCAGCAGCAGCGGGAGGCGGCGGTGCTGCTGCAGGCCGAGGACCGGCTGCGCTACGCGCTGGTGCCGCGCTATCGCGGCCTCTTCCACCACATCAGCAAGCTGGACGGCGGCGTGCGCTTCCTGGTGCAGCTGCGGGCCGACCTGCTGGAGGCGCAGGCCCTCAAGCTGGTGGAGGGGCCGGACGTCCGGGTAAGGGGCCGCCGTCGATCCCCCGGCAGCGCGGACTGGCCGCCCTCCTCGAGTAGTCCTCACTTGCCCCCTCCAAGTCCCACACACCCCGCCTTCCCTGCCCGATAGCACGCTCACTTCGCCCGCAGTTACCGCCTGCCAACTGTGTCCCCTTCCCACGCTGTCTGAGTCCTGGCCTCGTCAGAGCACACCCCCGCCTTCCTCCAGTCTGTCCTTGAAGTCCTCACTTGTATAGTGTTTACTAAATACTCAGCACTTGGTGGTCTTTAAGGTAGCTGTCACCTCTCGTACCTGATTAGTGTGTGCTCTACAGTCTTTTGAAATTATTGTAGCTGAGAAGTGTTTCATCTATATGGTATACCTGAACTAGAGCATCAGGCAGCCTTCTGAGACCCTGGATGGTGTTTCAGAAGTTCACTGGGCACCCGCTATGTGTGAGACATTGTCCTGAGAAGTCCTGTGAAATGCACAAAGGTAAATAGGACTCAAGGTCACCACCACCACCCAGGAGTCTCCATGGCTTCTGGCCTTGTCTGTGCTCCATGACTTTTGGGAGGGCATTTAACTCCCTGCGTTCAGTACTTAATGTGATGATTCTGAGTTGACTTGAGGTAATCAGGCATTAGCACAGTTCATTCATGTTAAATGCAGACACATACTTTGAGATTTAAATGATTATGACCCGAAAGAAGGCCTAGAGCAACATATACTCTTCTTTTATACTGTTAGTATTAAATACGGCGAAAAACTAACCTGCCCTTTTTTTATTTTTATTTTTGTTGCCCAGACTGGAGTACAGTGGTGTTATCACGGCTCACTGCAGCCTCGACTTCCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCAGGCCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAGGGCGTTTCACCATGTGGCCCAGGCTTAACCTGCCCTTTTAATGAACGAAAAATGACGTAAATGTTTCAGGAAGTTTTGGACATTCAGAAGTTTGTTATGTGCAGTTGGTGTTAAAAAAAAATTGAACACTTGAATGATTATGACTTGACCCATTTAAGAACTCTAATACTGGTTTAATAGTTTACATTCCTTCAGTCTTACGTGGGTGATAACACGTATCCCTTTTACAGTAAAGGAGAACATGCTGAGGTTGTGTTACTTGTCCTGAAATTCAGAGCGAAAAGCTCTTGCTGATCACCCACCCTAATCCAGGGTTATTTGCACTACGCTTTATATCACTGTCTTACCGTTAATCAGATGTTTATTAGAAACTTTCTTTTTTGGCTACTTAGATGCATAAAATTGGGCATAATTAAGTATGGGATTAATGTCAAGAGTGACAACAGTGGCCATGATTTGATTCCCCGTGATAGCTGGTTAATTTACAGCGCTAAGTGTTACTGAGGGCCAGGCATCTTTGGCCGTAAGATTCTCAGACAGAAAGCCCACAGTTGCTAATTGCATGACACAGAATCAGTCATGAATTCTTACTGTGTTGAATTATCATGTTCTGGGCTCAAGCCTAGTCTGAATAGCTGAGTTTTTCTGATCCACACTTGGACATAGTACTTGCAGTATATCATCCCCCCATGTAAA
Task1_train_22964
This is a variant in SLC38A8 (solute carrier family 38 member 8), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTGTACCATGTGACAGCAGGAAAGGCCTGGCCTACTGCCTGCCCTGAAGAAGGCATCCTCAAATGTCAGTCCCACCCTCCCCTGACTCTGGCACTGCTGGCTTCTAGGAGGATGTCCCAAGGCAGAGAAGCGTGGCCTGAACTGAATCTAGCAACCGGGGCCTCTGCAGGGTCAATGCCAGGGAGGACGCAAAGGAGCAGCTGGGTCCGTGTCTGCCTCTCCACATCCTACCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTGTTATTGTTGTTGAGATGGAATACTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTTGCTGCAACCTCCACTTCTCAGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCGCCCCCAACTATGCCCGGCTAATTTTTTTGTACTTTCAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTTCTCAAGCTCCTGACCTCAAGTGATCTGCCCGCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTACCTCCTTTTCTTTACCCAGGCCCTAGAAGCAAACCTCGTCTCCTCTTGCTCTCTGCTGCCAGTGTGACCCCTTGTCCCAGAATTGGGGAGGCCACCAGGGAGAACTGCAGAGCCAACAGTCCACTTGGCTTCCAGGCTCTTTGAGTCCAGCTGGTGGGAGGGAAAGCACAGTTTCCTTGGAGTCATCCACCCTCCACGGGGCATGGGCCAAGTGCATGGCGGTGTGGCGTGTTCCGGGCATACACCTCCTTGGGCCTGTCACAGCCAAGGGCAGGATTCGGGCATTTCCTGCGCCCTGGCCAAAGGACCATTTGAGTCCATCACCATCGCCAGCCATGCCTCCTCCCACTCCCTTCTGGGCTTCCCATTGCTGTGCAGTATCCTTACCTGACACCCTTGATCCTGACACTCCAAAGCCAATTATCTGGGCCTCAGCCCCTAGCTCCCTTTTATGGATTGAATCTTGTCTCCCAGAAACATCAGTTGAGGTTGAACCCCCGGAACCTGTGAACATAACCTTATTTGGAAATTGCATCTTTGTGGGTCCTAATTAATACAAGATGCAGGCAACTTATGATGAGATCACACTACTTACGGAGGTGGGAGGAGCTCACTTAGTGATGGGTATCTTTTTAAGAGAGAGATTTGGACACAGAGGATACACAGGGGAGAGTCACATGAAGACAAGAGCAGACACTGGAGTGAGGCAGCCACAAGCCAAGGAGTGCCGGCCACCCCTAGAACTGGGAAGACAGGAGGGAGCCTCCCCTAGAGCCCACAGAGGGAGCATGGCCCTAATGACACGTGATTTCAGACTCCTGGCCTCCAGAACTGTGATGCAACAAGCATCTGTTGTTTTAAGCCACCAGAGTGCGGTTATGGTCATTTATCACAGCGGCCATAAGAACTTTCCTCACCTTTGTACCAGAAACCCTTCGAACCCGCATAGCCCCATGAGCAGCCCAAGGAGGCAGAAGGCATCAGTCTCTCCAGCATCTTTATGAGGAAAAGAAATGGCATCGGTCTCCTGGCTGCATACAGCAGCCACGTAGGGTCAGCCCCCGGAGGGCCCCTTCCTGCCCGGCACTAGCTGCCCATCAGAACATCTCCCAGACCGCTGCCGCCGTGCTCTGCCCAAAGATGAAGGTGCCGACCAGCACAGAGACCACTCCCCAGACCTCCAGGCAGCACCTGCCAAGTGAATAAACCCATGTCAGAGCTTTTCTGGATTTTTGCACAAATAAGCCACACACACATAAAAAATTCACTATGTAGAGCCCAGTATGGAGTCATCAATTTGGAAAAAAGAAAAATTCAGAATATTTCCAGTTACCTGTAGGGATGGGTTTCCAAGACAATGGGAAGCAAAGTACCCAGGCAATTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGACACACACGATGACACGAGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCATCATGTTTGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCTCCTCAGCTTCCTAAAGTACTGGGATTACAAGCGCAAGCCACCGTTGCTGGCCGCAAGCAGTTTTTAAAAGCCCTCCGATCCCACCTGTTATGTCATAAGCTCATTCCTCCCCAGTATTTTATCAAATAAAAAGACATGGGGGCCAGGCATGGTGGCACAAGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTCACCTGAGGTCATGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAATTAGCCAGGCACGGTGGCAGGCACCTGTATTCCCAGCTATGTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTCGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCATCTCAAAAAGAGAAAAAGACATGGAGAGAAGGGAGACACTACTTTGAAAAGTCCCCCCACCCTCCCTTTCTGTTCCTCAGCCTCTGATGAAATCCCATGAAAATGAAGGAGAAGACGCAAGCTCTAAGTCACACACGATCTCAGAGGGGTAGGGGACGAGGACGCAGGAGGCAGAGGTGGCTGGGACTGGCAGCCACCGAGGCCACATTTGTGAGCTTCGTCATGTAACCAGAGATGGGGTAGACAAGGAGGTCAGAGCGATAACAAGATTCCCACAAAATGGCAGGGCCACCAGAGATATTTGTGGCCCCATTAACAAAGACCAGAAGGCCGGGTTGTCATGGAAGGAACATTTCTAACCGAGCAGCATCTCAGCACGGCTGTTCAGCGCCATAAACATCCATTCATCTGTGCGGGGACTGTGAGGCTAATGTGCCTGTGGGCTGTGGCACTCCTGGAGCAGCGCTGATGTATTAGAAGGACCCAAAGCAGTTTTAACGATAAAAATATCTTGAAAGCTCATCAGTAAAAACTGTTGTGAGCTCAGATCAAGGAACAAAACAAAAAGCATGAAGACTCCGAAAAGCATCCCAGGGAATGAGCGGCTTAGGGGGTTACCAGACATTGGGAGGCTGGTTCAATACCCAAGGCAGGTTTAGAAACATCCAGAAACACTGCTCTCAAATCCAGAAGAAACCGGGCCAGGCCTGCTCCTTTGCAAAAACCAAGCTTGGGCTCAATGGGGCTAGAGGGCCGGGGGTATAGGGGAACAGACCTACAGCTGGCACCCAAATTCACGATTGCTGCCATTTAACATTATCTGGGATGGGGTGAAGGGTGGCCCCCAAAATTCATGTCTACCTGGAACCTGTGCTTGCCAGCTTATCTGGAAACTGGGTTTTGCAGATGTAATTAAGGAAAAGATCTTGAGAGAAGATACAACCTAGATTTAGGGTGGACCCTAATCTGATGGTAGGTATCCTTATAAAAGAAAGGCAGCCAGGTGTGATGGTGGGCGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGGGGTTGAGGCTGTAGTGAGCCACAATTACGCCACTGCACTCCAGCCGGAGCAACAGAGCAAGACTCTGTCTCAAAAACTAAAATAAATAAAAGC
CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTGTACCATGTGACAGCAGGAAAGGCCTGGCCTACTGCCTGCCCTGAAGAAGGCATCCTCAAATGTCAGTCCCACCCTCCCCTGACTCTGGCACTGCTGGCTTCTAGGAGGATGTCCCAAGGCAGAGAAGCGTGGCCTGAACTGAATCTAGCAACCGGGGCCTCTGCAGGGTCAATGCCAGGGAGGACGCAAAGGAGCAGCTGGGTCCGTGTCTGCCTCTCCACATCCTACCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTGTTATTGTTGTTGAGATGGAATACTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTTGCTGCAACCTCCACTTCTCAGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCGCCCCCAACTATGCCCGGCTAATTTTTTTGTACTTTCAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTTCTCAAGCTCCTGACCTCAAGTGATCTGCCCGCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTACCTCCTTTTCTTTACCCAGGCCCTAGAAGCAAACCTCGTCTCCTCTTGCTCTCTGCTGCCAGTGTGACCCCTTGTCCCAGAATTGGGGAGGCCACCAGGGAGAACTGCAGAGCCAACAGTCCACTTGGCTTCCAGGCTCTTTGAGTCCAGCTGGTGGGAGGGAAAGCACAGTTTCCTTGGAGTCATCCACCCTCCACGGGGCATGGGCCAAGTGCATGGCGGTGTGGCGTGTTCCGGGCATACACCTCCTTGGGCCTGTCACAGCCAAGGGCAGGATTCGGGCATTTCCTGCGCCCTGGCCAAAGGACCATTTGAGTCCATCACCATCGCCAGCCATGCCTCCTCCCACTCCCTTCTGGGCTTCCCATTGCTGTGCAGTATCCTTACCTGACACCCTTGATCCTGACACTCCAAAGCCAATTATCTGGGCCTCAGCCCCTAGCTCCCTTTTATGGATTGAATCTTGTCTCCCAGAAACATCAGTTGAGGTTGAACCCCCGGAACCTGTGAACATAACCTTATTTGGAAATTGCATCTTTGTGGGTCCTAATTAATACAAGATGCAGGCAACTTATGATGAGATCACACTACTTACGGAGGTGGGAGGAGCTCACTTAGTGATGGGTATCTTTTTAAGAGAGAGATTTGGACACAGAGGATACACAGGGGAGAGTCACATGAAGACAAGAGCAGACACTGGAGTGAGGCAGCCACAAGCCAAGGAGTGCCGGCCACCCCTAGAACTGGGAAGACAGGAGGGAGCCTCCCCTAGAGCCCACAGAGGGAGCATGGCCCTAATGACACGTGATTTCAGACTCCTGGCCTCCAGAACTGTGATGCAACAAGCATCTGTTGTTTTAAGCCACCAGAGTGCGGTTATGGTCATTTATCACAGCGGCCATAAGAACTTTCCTCACCTTTGTACCAGAAACCCTTCGAACCCGCATAGCCCCATGAGCAGCCCAAGGAGGCAGAAGGCATCAGTCTCTCCAGCATCTTTATGAGGAAAAGAAATGGCATCGGTCTCCTGGCTGCATACAGCAGCCACGTAGGGTCAGCCCCCGGAGGGCCCCTTCCTGCCCGGCACTAGCTGCCCATCAGAACATCTCCCAGACCGCTGCCGCCGTGCTCTGCCCAAAGATGAAGGTGCCGACCAGCACAGAGACCACTCTCCAGACCTCCAGGCAGCACCTGCCAAGTGAATAAACCCATGTCAGAGCTTTTCTGGATTTTTGCACAAATAAGCCACACACACATAAAAAATTCACTATGTAGAGCCCAGTATGGAGTCATCAATTTGGAAAAAAGAAAAATTCAGAATATTTCCAGTTACCTGTAGGGATGGGTTTCCAAGACAATGGGAAGCAAAGTACCCAGGCAATTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGACACACACGATGACACGAGGCCAATTTTTGTATTTTTAGTAGAGATGGAGTTTCATCATGTTTGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCTCCTCAGCTTCCTAAAGTACTGGGATTACAAGCGCAAGCCACCGTTGCTGGCCGCAAGCAGTTTTTAAAAGCCCTCCGATCCCACCTGTTATGTCATAAGCTCATTCCTCCCCAGTATTTTATCAAATAAAAAGACATGGGGGCCAGGCATGGTGGCACAAGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATTCACCTGAGGTCATGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAATTAGCCAGGCACGGTGGCAGGCACCTGTATTCCCAGCTATGTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTCGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCATCTCAAAAAGAGAAAAAGACATGGAGAGAAGGGAGACACTACTTTGAAAAGTCCCCCCACCCTCCCTTTCTGTTCCTCAGCCTCTGATGAAATCCCATGAAAATGAAGGAGAAGACGCAAGCTCTAAGTCACACACGATCTCAGAGGGGTAGGGGACGAGGACGCAGGAGGCAGAGGTGGCTGGGACTGGCAGCCACCGAGGCCACATTTGTGAGCTTCGTCATGTAACCAGAGATGGGGTAGACAAGGAGGTCAGAGCGATAACAAGATTCCCACAAAATGGCAGGGCCACCAGAGATATTTGTGGCCCCATTAACAAAGACCAGAAGGCCGGGTTGTCATGGAAGGAACATTTCTAACCGAGCAGCATCTCAGCACGGCTGTTCAGCGCCATAAACATCCATTCATCTGTGCGGGGACTGTGAGGCTAATGTGCCTGTGGGCTGTGGCACTCCTGGAGCAGCGCTGATGTATTAGAAGGACCCAAAGCAGTTTTAACGATAAAAATATCTTGAAAGCTCATCAGTAAAAACTGTTGTGAGCTCAGATCAAGGAACAAAACAAAAAGCATGAAGACTCCGAAAAGCATCCCAGGGAATGAGCGGCTTAGGGGGTTACCAGACATTGGGAGGCTGGTTCAATACCCAAGGCAGGTTTAGAAACATCCAGAAACACTGCTCTCAAATCCAGAAGAAACCGGGCCAGGCCTGCTCCTTTGCAAAAACCAAGCTTGGGCTCAATGGGGCTAGAGGGCCGGGGGTATAGGGGAACAGACCTACAGCTGGCACCCAAATTCACGATTGCTGCCATTTAACATTATCTGGGATGGGGTGAAGGGTGGCCCCCAAAATTCATGTCTACCTGGAACCTGTGCTTGCCAGCTTATCTGGAAACTGGGTTTTGCAGATGTAATTAAGGAAAAGATCTTGAGAGAAGATACAACCTAGATTTAGGGTGGACCCTAATCTGATGGTAGGTATCCTTATAAAAGAAAGGCAGCCAGGTGTGATGGTGGGCGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGGGGTTGAGGCTGTAGTGAGCCACAATTACGCCACTGCACTCCAGCCGGAGCAACAGAGCAAGACTCTGTCTCAAAAACTAAAATAAATAAAAGC
Task1_train_22965
Given this variant in gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGA
CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGTCGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGA
Task1_train_22966
The gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTCGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGATCCTCCCACC
GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCCCAGGTTCAATTGATACTCCTGCCTCAACCTCCCAAGCAGCTGGGATTACAGGTGCCCCGCCACCATGCTCGGCTAATTTTTTGTATTTTTAATAGAAATGCGGTTTTACCATGTTTCACAGGCTGGTCTCAAAATCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGCGATGACAGGAGTGAGCCACGGCACCCGGCCAGTTCATCCCTTTCAAGTTCAGCCTTCCACAAAACCCTCAGGCATGGACACAGTTCAGCCAAATTATTTGCCAGCTTCTAACAGGTTTGTCCTTTACTCCAGCTTCCAAAACCTTGTTCCTCAGTTCCGTCTGAAACCTCCTCAGAACAGACTTTACTATCCATATTTCCATGACTAACTAGAGTATCTAAGAAGTTCCAAATGTTCCCTAGTCTTGTCTCTAAGCCCTCACCAGAATCTAGGCTTATTCTAGCCTGCTCCTCCGAATTCTTCCAGCCTGCACTCATTGCCCAGCTCCAAAGCCGCTTCCACGTTCCAGGTAGTCAATCATCAACACCCCACTCTTGATACCAATTTTCTGTCTTAGTCCATTTTTTGTTGGTTACAACAGAATGCCTGAAATTGAGTAATTTATACAGAAAGGAAATTTTTTTACAGTTATGGAGATTGAGAAGTCCAGGATCAAGAGGCTACATCTGGGGAGAGCCTTCTTGCCGGAGGGGACTTTGCAGAGCCCTGAAGTGGCGCGCAGAGTGTCACATGGCAAGGGGGCTGAGTGTGTGAGCCCAGGTCTCTCTTCTTCTTCTTATAAAGCCACCAGCCCCACTCCCATGATAACCTATTAATCCACTAATCCATGAATAGATTAATCCATTCTTGAGGGCAGAGGCCTCATGCCCCAATCCCCTCTTGAAGGCCCCACGTCTCAATGCTACCACATCAGGGATTAAATTTCAACCTGAGTTTTTAAGAGGATAAATATTCAAACCATAACACACAGGAGTCCAAGGCTGCCTGAGAGATTCACTGCAGCCCAAGAGCTTCCTAGACTGGAGGATACGTTGGTGAATGAAAAAAGACTGGCGTCAAGTGGCCAACCAGAAGCCAGCCGTGCCAGGGACCTGGGACTGTCCTTCCAATGCACTGTACGATCCTGCGTGTCACAGCCCCTCTCTGAGCCACACTTTCATCACCTTTAAAGACCCTCTGCCTCCCACACACAGTTTGTGAGCACCTGAGTCCACTGCACCCACAAACGTTTTGTAAACCCTACCCAGATGTTACAGTGTAATGACGGACAGCAGTCAATGTCCTTTGAACAGCAGGCAGCAGGGCTGGGGTGTGGTGTGTCAGAGCACGGGCTTTGGAGACGGCTAGGCTGGAGTTCAGGTCTCAGCTTTGCAGATCTAGCTGTGAAACCTCGAACAAGTTCTGGAGGGCACCTGAGCCTCAGCTTCCTCATCTATGAAATGAGGCCTTTTCCTATGCACACTAAGGATTAAATAAGATGCTCAAAACATTGAGTATTGAGCCCAGCACGTGGTAAACTCTCTAGAGAGATACTCGCTGTTACTCTTGTTTCTACTGTCACTCCCCACCCTCTGCAGGGGTGCCTGGGAAGGGCCTTACCCGTCAGTGAATAGATGAGGCAGCAGGCCAGCAAGGACAGCACAGACACCAGGGCCCAGTGGGAGAGGCTCCGTTTGCGCATGCTGCAGTAGATGGAGACGGCAGCTTTGTGACACTGTAAGACAGAGGGCGGCTCAGCAGGATGCTGGCTTCCCCTGGAACAGGCGATGCGAAAAAAAACTCATATCCAAAAGGCGGGAAATGTGGGATATGATGAGGTTTCTCTTGAAATAGCCTGATCAATCCTTTATTCTTTAATTCACAGTACACCCCCAACCCCTCTTTCCTTTTCTCCTTCCTTTCTGCCTTTGTTACATGCCCAAACACGCCACAGTACCAGGCATTATCAATACAAGCTCGCATTCCTTTCCTTATTTTTTAAAAAACTAGCTCTCTAGCTCATTACAAACACCCACTGCCCCTTTCCCCTCTCTCCCTTACCTGCCCACCTTATCTAAAAAAAAGTTCAAATGTTCAACTGAGGCTAGTTTAGATTGTGCGGCCCAACCCCAGCCAATGGGAAAAGGGTACAGGAGCAGGACTTGCATCAGGAATAAAGGCTCTTGTACTCCTTTGCTCGGGTGTGCTCTGACCAAGAAAAAGCACCCCTCTGCACAAAAGTAAAATTACTTTGCTAAGAATCCTTTCAGTGTTCCGTTTTCTTAAGATTTTGAGCGTTATTCCCAACAGAACCCACATGCCCACCAAGAGCAGAGGGCGTAAGTAAATGGCAGGATACTAACACACAGAGCATGATGTGGCTCTGACAAAGAACCATGCACCTCAACACAGACGAATCTCAGTCAGAACAATGAACACCACAGGAAGCCACATAGGTGCCGGGCACGCTGGCTCGCACCTGTCACCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATTCCATCTCTACTTAAAATACAAAAATTAGCCGGGCATGGTAATGAGCACCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGTGAATCACTGGAATTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAAAGACACAGTGACACTGTGTCTCAAAAGAAAAACAAGCCGGGCAGCAGAGAATGTTTCCGTTAATGGATGCGAAGTCCAAGTTACAAGATAAACACTTCTACACCAGGGTTTCTCAGCCTTGACACGATTGATGTCTGGTGTGGGTTAACTCTTGGCAGCCGCCCTGTGTGTTTGGGGTGGGGGTGTTGTGCAGTGTCCCTGGCCGGGACCTACTACATGCCAGTAACAGCCCCCCTCCCCCAAGTTGTGACAACCCAAAATGTCTGCAGACATGGTCAAATGTTCCCTGGGGGTATAACCAACCCACGCAAACCCCACTCTGTGGTGCTAGAAGGCAGGATGGTGGTTTGGGTAGGGTGGGTGCTACTGACCAGAAAAGGTCATGAAGGGGTTCCCGGGGGCTTGACCATGTCACATGGGTGCACACATACTTAGAATCTACATACTGTATATGTGACATGCCATATTGGGGTAAGCATTTTTTTTTGGTAGAGATGACTTCTTACTACATTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGCGACCCTCCTGCTTTGGCCTCCCTAAGTGCTGAGATTACAAGTACGAGCCACCATGCCCAAGGGGGATAAGAATTTTAAACGCAGGAGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTATAAAAATTAGTCAGGTGTGGTGGCAAGCACCTGTAATCCTAGTTACTTGGGAGGCTAAGGCAGGAGAGTCGCTCAAGCCTGGGAGGCAGAGTCTCGCTCTGTCACCCAGAATGGACTGAAGTGGCGCGAACTTGGCTCGCCGCAACCTCCGCCTCCCGGGCTTAAGCGACTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACGCCCAGCTAATTTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCATACTCCTGACCTCAAGTGATCCTCCCACC
Task1_train_22967
A mutation found in SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGTGGTCTCAGGCCCACCCAGCCCTGCAGGGCCAGCATCTGCATTTCAGCAAGATCTGTGTGAAATGCCTGCACGGTGCTTGTGGAACAGGGTTCCCACTCTCTGGCTCATGGCCATTCCTGCTGCCCGGGGATTGGCCACAACCCTACCCCCAAGCCCCACCTGCCCTCTGTGGCTTGAGATGGGGCTTCTCCCTCACTGCTGTAATGGCAGGCTTCCTGACACACTAGTCCAAACGCAGGCGTGCTGCCCCGTCACGTGCACCTCAGGAAGCTCTTACCATTTCCAGTGGGGCTCAGCGCAAAGGTCACCTCCTCCGAGAGGCTTCCGACCACGCCATGTCATATCATCCCCCGATCCCCAGAGACACATGACCCTCCCGGCATGATCCACCATCTGAAGCTGATGACATGCATCTTGTCTGACTTCCCATTAAAACAAAGCTCCATGAGGACAGGGACCACACTGCGTCATCCATCCTAGGCCAGGCACGGGGCAGGAGCTCGGCCAACGCCAGGGGTGTCATGGGTTACACCCGACACTAGTTTCCAAACAGACCCGAAGAGCCTCAGGGCACACAAACGGTTGGAACTCAGCCATTATCCACCAGCTGCCGTAAGACGTGTGAGAAAAAGCCGGCCAAAGAGCTTACCACAAAATGCAGCAATTCATTCCATCAGCCAGCGGCAAAGGATCTTAGAAAATAAAGCTGTGCTCATCAGTGGCTCTCCCGCAGCAAAGAGAAGAGCGCGGCGTCCGCGCTTCCCCAAAAGGGAATTCTGGCTTTGCACCCGGCAGGCAGGAGAGCGGAACATCCGACACCAGGCAAGGCCGGCCCGGCTCTGTGTGGGGAGTGTGGGAGTGTCACACCAGTTTTAGGCTCAATCTGCACACAGGAGTCGAGCTTTGTTTTTGTGTGTTTAAGACAGAGTCTCACTCCGTCGCCCAGGCTGGAGCGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGACTCCACCTCCTGAGTAACTTGGATTACAGGCGCCCGCCACCACGCCCCGCTAATTTTTGTATTTCCAGTAGAGACAGGGTTTCACCATATGGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCCACCTTGGCCTCCCAAAGGGCTGCGATTATAGGCACGAGCCACCGTGCCCGGCCCAGCTTTAGTTTTTGAGCTAAGACCAGCAGGCAAGAAAGAGCAGCTGGCCAGGCAGGGCGCCCAGAGAGGTTCCTTCCCAGGTGAAATGCCCACTTCACAGACAGAGCTGCGATGCCTGTAGCTCCATCCCGGAAGCTGTGTATCAGATGCCACCAGCGCCCACGGGGGATATTCTCATCCCAGGGCTACAGTGGGATTATCTTCTCCCCTCATTAGCTGAGCGGGATAGAAAATAAAACCCCGAAGCTATAGCTTACAGGACACGCAACTCCGCAGAAGCAATGCGAGGAACCCCACCCAGAAAAGCCAAAGCCACCTCGTACCCGTCCCCAGGACTCACTTCCCGGGGACTTACCAGCTCCACCAGGAAGGCAGGGACCACTCCGCCCGCTTTGGAGAAGGCCCAGGGGAAGTTGAGCAGGCCAGCTCCCAGCGCGGACTTCATGAGGATGAAGACAGCGCCCATCGAGGACAGAGTGGCAGCAGCCGTGGCAGGGTGAGGCTTTTCTGGAAGGCCCCTGCTTCCTGGGGTCTGTCCCTCCATGGCTAGAGGCGGCAGAGGGGTGGAGAGAAAGCACAGTCTTCACGCTTTCCTCCCTAAGTTCTCGATATCCTTATTTGTCTCCCCAACTCAGTGAGAGCTCCCTGAGCCGCTCCTGCCCGCTTCCTTGGCGTCAGCTCCCCCTTTCCAAAGGGTGCTGCATGCATCTGCCCACGACTTCTAGTCCCCCTTCGTCTCCCATTCCCTACCCACATTATTCTCACTCCTGCCCTCCCACTAGACCCCAAGGCAACCTCACCCCTTCCCCCTCCCTCTCTTCTCCCAAACCCCCAACCTTCCTCATCCCCATCAATCCTCTCTCCCCCCATTCCCATCCACTCCCTTTGCTTCCAGCCAAACTTCTGTACAAACAGACCCCCAGTTCCTGGTCCTTACCACCAAATCCAACTTTTAAGGTGCCGGACAGTCTTTGGCTGTTGGGGATGGGACTCGGGCTTACTCCAGGTGGCTCAGTTGCATTTCTTGGGGCCAGAGGGGTGGGAGAAGCAAGATTCGAGCTTGGCCAGGGGTGAGTGAGTCATTAACTAAAGGAGCCCTAGCGAGTATGTGTCAGGGTCAGGCCCCTCCACACCTAAGAGGACAGCAACAAGTGGTCAGGGCCATGGGTCCCAAGAATTTGCAGCTTTTGAGACTTCTGACCTGAGCAAGGAAGGCTTAAGACTCCCGCCTCTCCCCAGCCCCCTGCAGGCCCGGCCCCGGGGGTGGAGCTTTCTCAGCTGCCCTGGAGGGTGACAGGGAGCTCAGCTGGGAGCCACACGGGGCAGGGGAGCAGGCACCATGATCTCATGGCAGCTTCTGCAGCGCCTCCATCCTCACATACCTCTCCAAGGTCCCCAGCCCAACGGAGGGGGCGTGAAAAGTGCCCTGAGCCCAGCCTCCTCCTCTGCAGAACAGGCTCCACCGTCCGCAGGTGCTGCCTCCTAGGTGGTTTCCTTTACCTCCTCCACCCAACTCCAGCAGGTGCGTCTCAGAGCTAATCCCATGCACACGAGTCACCTGAGACGGGGCTTGTTGAACGCTTGGGGGAGGCGGCGGCTGCTGGTCCCTAGGCCACGCTTGAGTGATGACACATCTCTCCAAACTGATACGGGGTCAGCTAAGGGGACAGAATATCGGAGACGGCCCCATTCCGGAAAATGCTGGCACATGCAGCTCAGATCCGGAATTTGACTGTTTATTCCTGGAACCCAGGCTCCCTCTCACCCGCATTCTCGAACTCCAGTTTGCATCAGAATCCACTGGAAGGCTTGTTCAAACACAGAACACCAGGCCCCAGCCCCTGTTTCTGACTGAGTGTCTCCGGGGCGGGGTCTGGGCACCTGCCTTTCTAACGGGTTCCCAGGTGACTCCAATGCCGCTGGTTCGGCCCCTCGCTGAGAAGCACTGCTTTCAGTTAAATATCCTCAATGCCCAGAACCCCTCCCCCCGCTGCATCTAATCAGTCCTTATCTGTCCGACACCAGATCAGCCCCAAAGGCTTCTTTTTGATGTGGTTTCTAATGGTCTCAACCCCCGACTCCTGTTACCTCCTGATGAGCAGGCAGGTTCCAAACTCTGTGGCTCACACAATGGCTGCTCCATAAATGCCCAACCAGCAGAGTCAGTGGCTGGCTTCTCAGCAGGGGCAAGTGAAAGGGAGCCGGGATTGCAGTCCCGGAGCTCAAGGCTGGACAATGACCCGGATGACATTCACGCCACTGCTGCATAAATGTGCTGCTGAGAACCTAGCCTGGATGAGTTCACGCGGATTCCTGAGCGGGTGTCCCCACTGTTCCCCCCAACTCCCACCCCGCACCAAGCAGGAACTCGGCTCAGGCAGGTGGAGCACGTGGCTCAGAGCATCACAGCTGGCAAGCAACAAGGCTGGGATTCACCCTGAGTCAGGCTCCTTTCAGAGGCTGTAATGTCACACGGCCTCCTGCCCCACAAGGACTC
TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGTGGTCTCAGGCCCACCCAGCCCTGCAGGGCCAGCATCTGCATTTCAGCAAGATCTGTGTGAAATGCCTGCACGGTGCTTGTGGAACAGGGTTCCCACTCTCTGGCTCATGGCCATTCCTGCTGCCCGGGGATTGGCCACAACCCTACCCCCAAGCCCCACCTGCCCTCTGTGGCTTGAGATGGGGCTTCTCCCTCACTGCTGTAATGGCAGGCTTCCTGACACACTAGTCCAAACGCAGGCGTGCTGCCCCGTCACGTGCACCTCAGGAAGCTCTTACCATTTCCAGTGGGGCTCAGCGCAAAGGTCACCTCCTCCGAGAGGCTTCCGACCACGCCATGTCATATCATCCCCCGATCCCCAGAGACACATGACCCTCCCGGCATGATCCACCATCTGAAGCTGATGACATGCATCTTGTCTGACTTCCCATTAAAACAAAGCTCCATGAGGACAGGGACCACACTGCGTCATCCATCCTAGGCCAGGCACGGGGCAGGAGCTCGGCCAACGCCAGGGGTGTCATGGGTTACACCCGACACTAGTTTCCAAACAGACCCGAAGAGCCTCAGGGCACACAAACGGTTGGAACTCAGCCATTATCCACCAGCTGCCGTAAGACGTGTGAGAAAAAGCCGGCCAAAGAGCTTACCACAAAATGCAGCAATTCATTCCATCAGCCAGCGGCAAAGGATCTTAGAAAATAAAGCTGTGCTCATCAGTGGCTCTCCCGCAGCAAAGAGAAGAGCGCGGCGTCCGCGCTTCCCCAAAAGGGAATTCTGGCTTTGCACCCGGCAGGCAGGAGAGCGGAACATCCGACACCAGGCAAGGCCGGCCCGGCTCTGTGTGGGGAGTGTGGGAGTGTCACACCAGTTTTAGGCTCAATCTGCACACAGGAGTCGAGCTTTGTTTTTGTGTGTTTAAGACAGAGTCTCACTCCGTCGCCCAGGCTGGAGCGCACAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGACTCCACCTCCTGAGTAACTTGGATTACAGGCGCCCGCCACCACGCCCCGCTAATTTTTGTATTTCCAGTAGAGACAGGGTTTCACCATATGGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCCACCTTGGCCTCCCAAAGGGCTGCGATTATAGGCACGAGCCACCGTGCCCGGCCCAGCTTTAGTTTTTGAGCTAAGACCAGCAGGCAAGAAAGAGCAGCTGGCCAGGCAGGGCGCCCAGAGAGGTTCCTTCCCAGGTGAAATGCCCACTTCACAGACAGAGCTGCGATGCCTGTAGCTCCATCCCGGAAGCTGTGTATCAGATGCCACCAGCGCCCACGGGGGATATTCTCATCCCAGGGCTACAGTGGGATTATCTTCTCCCCTCATTAGCTGAGCGGGATAGAAAATAAAACCCCGAAGCTATAGCTTACAGGACACGCAACTCCGCAGAAGCAATGCGAGGAACCCCACCCAGAAAAGCCAAAGCCACCTCGTACCCGTCCCCAGGACTCACTTCCCGGGGACTTACCAGCTCCACCAGGAAGGCAGGGACCACTCCGCCCGCTTTGGAGAAGGCCCAGGGGAAGTTGAGCAGGCCAGCTCCCAGCGCGGACTTCATGAGGCTGAAGACAGCGCCCATCGAGGACAGAGTGGCAGCAGCCGTGGCAGGGTGAGGCTTTTCTGGAAGGCCCCTGCTTCCTGGGGTCTGTCCCTCCATGGCTAGAGGCGGCAGAGGGGTGGAGAGAAAGCACAGTCTTCACGCTTTCCTCCCTAAGTTCTCGATATCCTTATTTGTCTCCCCAACTCAGTGAGAGCTCCCTGAGCCGCTCCTGCCCGCTTCCTTGGCGTCAGCTCCCCCTTTCCAAAGGGTGCTGCATGCATCTGCCCACGACTTCTAGTCCCCCTTCGTCTCCCATTCCCTACCCACATTATTCTCACTCCTGCCCTCCCACTAGACCCCAAGGCAACCTCACCCCTTCCCCCTCCCTCTCTTCTCCCAAACCCCCAACCTTCCTCATCCCCATCAATCCTCTCTCCCCCCATTCCCATCCACTCCCTTTGCTTCCAGCCAAACTTCTGTACAAACAGACCCCCAGTTCCTGGTCCTTACCACCAAATCCAACTTTTAAGGTGCCGGACAGTCTTTGGCTGTTGGGGATGGGACTCGGGCTTACTCCAGGTGGCTCAGTTGCATTTCTTGGGGCCAGAGGGGTGGGAGAAGCAAGATTCGAGCTTGGCCAGGGGTGAGTGAGTCATTAACTAAAGGAGCCCTAGCGAGTATGTGTCAGGGTCAGGCCCCTCCACACCTAAGAGGACAGCAACAAGTGGTCAGGGCCATGGGTCCCAAGAATTTGCAGCTTTTGAGACTTCTGACCTGAGCAAGGAAGGCTTAAGACTCCCGCCTCTCCCCAGCCCCCTGCAGGCCCGGCCCCGGGGGTGGAGCTTTCTCAGCTGCCCTGGAGGGTGACAGGGAGCTCAGCTGGGAGCCACACGGGGCAGGGGAGCAGGCACCATGATCTCATGGCAGCTTCTGCAGCGCCTCCATCCTCACATACCTCTCCAAGGTCCCCAGCCCAACGGAGGGGGCGTGAAAAGTGCCCTGAGCCCAGCCTCCTCCTCTGCAGAACAGGCTCCACCGTCCGCAGGTGCTGCCTCCTAGGTGGTTTCCTTTACCTCCTCCACCCAACTCCAGCAGGTGCGTCTCAGAGCTAATCCCATGCACACGAGTCACCTGAGACGGGGCTTGTTGAACGCTTGGGGGAGGCGGCGGCTGCTGGTCCCTAGGCCACGCTTGAGTGATGACACATCTCTCCAAACTGATACGGGGTCAGCTAAGGGGACAGAATATCGGAGACGGCCCCATTCCGGAAAATGCTGGCACATGCAGCTCAGATCCGGAATTTGACTGTTTATTCCTGGAACCCAGGCTCCCTCTCACCCGCATTCTCGAACTCCAGTTTGCATCAGAATCCACTGGAAGGCTTGTTCAAACACAGAACACCAGGCCCCAGCCCCTGTTTCTGACTGAGTGTCTCCGGGGCGGGGTCTGGGCACCTGCCTTTCTAACGGGTTCCCAGGTGACTCCAATGCCGCTGGTTCGGCCCCTCGCTGAGAAGCACTGCTTTCAGTTAAATATCCTCAATGCCCAGAACCCCTCCCCCCGCTGCATCTAATCAGTCCTTATCTGTCCGACACCAGATCAGCCCCAAAGGCTTCTTTTTGATGTGGTTTCTAATGGTCTCAACCCCCGACTCCTGTTACCTCCTGATGAGCAGGCAGGTTCCAAACTCTGTGGCTCACACAATGGCTGCTCCATAAATGCCCAACCAGCAGAGTCAGTGGCTGGCTTCTCAGCAGGGGCAAGTGAAAGGGAGCCGGGATTGCAGTCCCGGAGCTCAAGGCTGGACAATGACCCGGATGACATTCACGCCACTGCTGCATAAATGTGCTGCTGAGAACCTAGCCTGGATGAGTTCACGCGGATTCCTGAGCGGGTGTCCCCACTGTTCCCCCCAACTCCCACCCCGCACCAAGCAGGAACTCGGCTCAGGCAGGTGGAGCACGTGGCTCAGAGCATCACAGCTGGCAAGCAACAAGGCTGGGATTCACCCTGAGTCAGGCTCCTTTCAGAGGCTGTAATGTCACACGGCCTCCTGCCCCACAAGGACTC
Task1_train_22968
A sequence alteration has been identified in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type
TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTG
TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTACCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTG
Task1_train_22969
Here is a genetic alteration in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type
TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCACATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTGGATTTCATCTATTAGGCAATAATAAACTGC
TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGGCATAAAGCAATTAAAAGATAAGTATTTTAATTTTGCTGACATGCCAGACTGGAAAGTGGACACTGGCTTATCACCAAGACCAGAAACTGGAAACTGCTTTATCTCTAGATAAGTTAAAATTAGAAATATGTTAGAAAAATTAGAAAATTAAAATGTAAAAAAACCCAAACATGTTTCTTTACAAGGAAAAAAGTACACGGTATGAGTGGATGTTTCAAACGGTTGTAAAAGAGGAAATAAGAAACCACTGAGAAGGAACAAGATAACCACACGACTAACTTGGGATAACGTTTTAATAAGTACTTGCTTAAGCTTCTTAAGAATTGGGGCAAAACGAAAATTAGAATAGGATCTCATATTCTGTCAGAAAACAGGAGCCCAATTTGAAGGGAAGCCCTTTTCTGACCATCAAACCCAAGGACCATGGATGCACATACTGGGATACCGAGTAAAGGCATCCTCCACTGCAGCTGTGATGATGGAAGGACATTTCTCAAATGCCATTAAAAAGCTGGCTGGTGATGAAGGCCATGGACGTGACATCTCATCACGGTTTGGTGAAAGCGTTTACACGGGGAGCTGGGGACAAAGTGGATGACATCTCACCACAGTTCGGTGAGAGCATTTACACAGGGAGCTGGGGACAAAGTGGTGGATGCAGTTTCCCATTATCCGGCAGCACAAGGAACATGCTGAGGGAGCGTGGATGGGAGGACACGCAGCCTGCCCTGCACAGACTGTCACATGAGAGAATGGTCCCCAGCCAACAGGTCAGCTCCAGGAAGAGGCACGTGAGTGTGGGAGGCGGGGACCCCTGGTGGGGCTGAGTGGCGGGGACGCTGGGGGCTGACGCTGTCACAGGACAAAGGCTCAGGCAGAAGGCTATCCTGTAAAGTGGCTACAGTGTGGACGAGGCCCACAGTGTTCCCAGGCAGTTGGGAATCTTTCCAGGGACTTATCTGAGGCCTCCGAGTGTGGCATGTGACGTTAAACACCAAGAGATGCTCTGACCCTGAAGAATGAGAAGGGCAGATGCTCCCCTCGGCCACAGCGAGGGCAAAGGTGCCCAACTGCTGTTCTGCACGAGCGTCTAATTTTTCATCAAACTTTGACAGGTAAAGGTGGGTGAATGTGCTGCATAATTAAACCCCAAACAGCTGAATTATTAACTGTAGCAGTTATTTTGAATTTGTCCAGCTAAATACAATTGTTTCTGTGTTAGCAGAGTTGATATTAAGCTGTTCTCAATGGTTTCTCCAACTTCTTAAGGCTCCCCTCCCCCAAAAAATATCATCTCACCTACCACTGAGGAGGACTGCTTACCACTACTAGATAGGGTAAACGGGCAGGAACCCAATTCACCTAAAGGTGAGTTCCTCAGAAATCAATTAATAAGTTAAACTGGGAAACACCGCTTAGAATCAGCCGGTGCTCATCACAGCAGCTGTGGACTTGCCAGAGTGAAGTGGCAGATGCTGACGGGGCCCAGATCTCTCGTCCTCACGGCTGGGCAGGCACTCACAGCCCCGGCTATTCCCATGTGAATGTGAGGGTGTCTGTGCACTTACAAATACACCCCAAGGCTCGTCAACAACCGGTGCCACTAGCCACAGTAGTTTGTCCAGCTAAATACAATTATTTAGCAAAGAAGAGCGTACCCAGGTAGTCATTCCCCTTGAAGAAAAGCGGGCGATGTTATCTTCAAAGTCAATGCCGCCTACTCCAATCCCATCCATTTGATCAGCAGGGTTATTCAGAGTGCTATATTGAGACCAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAACAAGAGAAATAATTTAAAATGGATGATTCAAACCAGGGCGAATACTCCCAGAACAATCTAACACTGTATGAGCTGCTTCTGTGGGAAGACGTGTGCAGCTCCTCACGGCTGTCCTGTGAAACGCATGATCCTGCCACGTTCATGCTGTGCTCACATTACGCCCTCTCACCTGCAACGCCCCTCCTTTCTTCTCCTCCCTGTCAACTTGGCACACTGGGGCTCAAGGCTCACGTTTTCCCTCCAGCAATCCAAGCCTTAAGCATCTGTACTTGCCTTGAACCTCACAACACTTAACACAATCACAATTTATCACCTAACGACACATTCTCACATCACTTTCAAATTGTTCCCAGCACATTCATCTTAACTCCCCAGCTAAATCACACACTTCTCCTGGAAGAAACCATAACCACACATTTACATCTGCCAAGGTCAGGAAGTGGTAAGTTTTCGATTGACCTGTGGTGGTGTTCTACCCTCCTCATAGGGAACTGTAGAAGGACTATCATTACTCTGTAATCTTGAGCTCCTTAGAGTCTCTCCAATACCTTAAGTGCACTAGATCTGCAAAGAAATTATAGTGAAATAAATAATGGCAAAAATGTGTAAACCGTAAAGTCAAGATAAAGATGAACCATTTGAAAATATGAGACACTCAGTTATAAAACTGCATTGCTAAGCTTTATTATGGCTCCACTACCAAAAAAAATGAACTCTTTGACAAATCAACAACTACATACAACTGATTCCAAGTGGCTTAAGAGATAATAGCAGCATGAAGTTCTCCTTCTAGAGTGTGTTTTTAACTGACAATTCCCAACACACCGAGAAAAAGTGGTACTGCCTCCTCAGCCCACTGGCCACCAATATCCTACCAGCTGGTCATTCAGAGGAACGAATAATGATTTTCTGATGACTGATGCTAGATGTTTACACATTCCCAGGAACTCAAGGAGCAGAGGCTGGTACAGAAGTCACTGACAGAAACTCCCACTGAAGTTGACCAAAAAAATACCACCTTCCCACCCTCCTCTACCTGCTAAGCCCTATAATGCTTAGTGTACTTTAAACCCTTAAAAAATAAGGGAACGCATCAAGAAATCATTGCTGGTATTGAAAAGGAGGGACGTGAGGCTGCAGGCTTGCTGGCACCACAGAGTCTAGGAGCACCAAGGGCACAGGACCCAGACAAAGAGACCACAGCAAAGGGGACCGGAGGATGTGTGCCTCATTCCCAGAGGGGCTGACGTATGCATGTTACTGTCCTCAGACCAGCCCTGGAAGCAGTCCCACCAGATGCCCAAGCAGAAAAAACCACACCCACCACAAGCTGGGCTGCCGTGATCACATGCCACGTTCTGTCACTTCAACAGCCAGCAGGTGGCCAGGTCTGTGTGAGGCAGCATGAGCGTACACACAAGGTGGAGATGGGGCCTTCCTGGCAAGGCTCTGCTCCTTCAACACACCATAAACTCACAACTCTGGTAAGAAGCTACGGAGTGCAACCACCCACAAAAGCCACAGGGTTTCAGAACGGCAGCCAGCGTGTGACAAAACAGTCCGAACAGCATGCGAAAGAGCTGGGAATCCAGACAGGTATGGCCAGGAGGATGGGCAGAGGGATGGGGTGCGGAAGACCTGAGAGAAACAGAAGGAGGACACTCATTCCAGGAAGGTGTACATGGGGAAGTGGAAGATCAAGGTGAACTGAGATTGTGGCTGGAGTTGGCCAACTACGGCCCATGGGCCAAACCAGGCCCACACCTGTTTTTGCAAATACAGCGTTCCTGGAACACAGTCATGTTCATTTACACATATATCACCCGCAGCTGCTTTCACACAATAACGCCTAAAATATTTATTATCTGACCCTTTACAGAAAAAGTTTGCAATTCAGCCTAGAATACTGAAGACCTTGAAAAACAAAAGAAAAATGTGGATTTCATCTATTAGGCAATAATAAACTGC
Task1_train_22970
A variant found in Chromosome 16 affects DNAAF1 (dynein axonemal assembly factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Primary ciliary dyskinesia 13
TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTATGTTGATTCAGACAGTAAACAGTTTGGAAACAAAGACAACAAAGAAATGTGACCAGTTACTGGCTGTTTGATGATGACGTTGAGGAACTGTTGTTTAGACGTCACAGTGGTGTTGTGGCTATCTTAAAGAAAAAAAAAATCCTATCTTTTATAGATACTGACTTCAGCATGAAGACCTTGGAGCAATATGGCAAATACTTCCACTATAAAAATTTTTGTGGAGAGGGTTTGCAAGGAGGGAGAGCATCAGGAGGAACAGCTAATGATGCTAGGCTTAATACCTAGGTGATGGGATGACCTATGCAGCAAACCACATGGCACACATTTACCTATGCCACAAACCAGCACATCCAGCACAGGAACCCATCAACTTAAAATAAAACTTGAAGAAATAAAATAACCAAAATTTTTGTGGAAAAAATATAGGATTTTAAAAAGTCTATCTATACAATGCCTGTGTTTAAGTGTATTCTATAACTATGTTAAATATTACTTGTGCTTATAGCAAGCTTGGAAGGCGAGAGAGAAAAATGAAAACGGATTATCTGTTGGCAGGAACATGGGTGCATTTCTTTTTATTTTGCTCACCATTGATATTAGAATTTTTTAATAAAAACTTTTTCAGGCAACAAAATAAAGAACTTTAAAAAGTGTTGGTAATAGTAGGTCAAGGCATGAATTACACATTGATGACGAGTTACTAAAGGAAACTAAAAGATTTGTTTTCCTAACCGTAAATTTGGCTCATAAAACTGAAAAAGAGAACAAAACAAGGCCCACAGTTTGCACTAGGGTCAGGCCTGGTGGGAACATTTTCAAGGCAGGGTTACCCCCACTGCACCCCCACCTCCACCCACTCCCCACCATGAAGGCAGCAGTAGGCTCCACCCTCCCAGGTGGGTAATTCCAGCAGAAAGACTACCAGTCTTTTCAGCAAGACCCCCTAGGATTCATCAAAGTTCGCCTTGCTTGGCTAAGTGTGGCCACCCCCGAATGAGTCACCGTGACTCTGATAGGCTGCCAGAGAGCCGTTGGGTGATATTAGGAAAAGGATGGTTCCTCCAAGAAAAGTTGCTACTGGAGGAAGGAGGTGTGGATGCCAGGTAGGCAGGTGTCTTAGTCCGTTTTGAGCTGCTGTAACAAGAAACCGTAGCCTGGGTGGCTTGTAGACAACAAAAATGTATTTCTCACAGTTCTGGAGGCTAGGAAGTCCAAGGTCAAGCTACTGGCAGATTTGGTGACTGGTGAGAGCTTGCTTTTTTATTCGCAGATGGCACTTTCTTGCTGTATCCTCATGGGGTGAAGATGGCAAAGAAGCTCTCTGGGGCCTCATTTATGAGACCACTAATCCCATTCCTGAGGGTTCTTCTCTCATGACCTTATCACCTCCCAAAAGTCCCACCTCCTAATACCATCACATTAGGGGTTAGGATTTCAATGTATGAATTTTGAAGGGACACAGACATTCAGTTCCTAATAGTAGGCAAAAACAAGGGTGACCGTGACCCCTCTGCCCTGGGAGTAGGAGCTTAATTCCCACGTGCTTCCTTTTTGTTAGGTTTTGATCGCATTGAGAACCTGGAAGAGTACACAGGGCTGCGCTGTCTCTGGCTGCAGAGCAATGGAATACAGAAAATCGAAAACCTGGAGGCCCAAACTGAGTTGCGTTGCCTCTTCTTGCAAATGAACTTGCTCCGTAAAATTGAGAACCTGGAACCTCTGCAGAAACTGGATGCTCTTAACCTCAGCAACAATTACATCAAGACCATTGAAAACCTCTGTAAGGGTACCCAGCAAGCAGTGTGTCTGTTTGCCATATGTCCATCACCTTCCCCTGAGGGATGTTCTAAGCTTTTATATTATGGGCAAGAAGTGGTGTTTTTTTTTGTCTTTTTTTTGTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTTAGCCTCCAAAATAGCTGGGACTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAGAAGTGTTTTTGGTTTTGTTTTGCTTTGCTTCTTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGAAATGCAGTGGTGCAGTTAGAGCTCACTGCAGCCTTGACCTCCTGGTCTCAAGCGATCCTCCCACGTCAGCCTCCCAGGTGGCTGAGACCACAGGCATGTGCCACCAGACCTGGCAAGTTTTTCTACTTTTTGTGGATATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACCTCCTGGGCTCGAAAGATTCTCCCGCTTTAGCCTTCCAAAGTGCTGGGATTACAGGTATGAACCACTGTGCCTGGCCCAAGAAGCATTTTTATGCCTTTGTTTTTGACTTCTGCTGACCTTACCTTCCAGCCTGCCTCCCAGTCCTGAACACATTGCAGATGGCCCACAATCACCTGGAGACCGTGGAGGACATTCAGCATCTACAAGAGTGTTTGAGGCTTTGTGTCCTTGACCTTTCGCACAACAAGCTGAGTGACCCGGAGATCCTGAGCATTCTGGAAAGCATGCCCGATTTGGTAAAAAACAAAAACAAAAACAACGAAAAAGCACCACAGGAAACCGCTTCTATTATTTTCATCAAATATCAAGTCCTTTTGTCTTTTCTCTCCTTCCTGCCTTCCTTCCCTTTTTCACACTTTTTTCCTCTTTGTGTTTTTAGCTGGAGTATCTGAAATGCCAGTTATCGTATTATTTTACCCACAAATAGTTCAGTGTGTGCCTCTAACAGATAAGGACTTTTTTTTTTTGATATAGAGTTTCGCTCTTCTTGATCAGGCTAGAGTGCTGTGGCATGAACTCCGCCCACTGCAACCTCTGCCTCTGGGTTCAAGGAATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTTCAGGTGCCTGCCATCACACCCAGCTAATTTTTGTATTCTTAGTAGATTCAGGGTTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTTGAGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGTGCCCAACCACCACTCAATTAATTTTTCAAGGAAACCAGGTCCTCTGTCTGGTGTTACCCACATTCTGGATTTAGCTGATTGCATCCTTGTGGTGCCACTTAACATGTTCTGCTGGCCCTGGTATTTCCTGTAAAATGATATCGGAGCCAGAGGCTGGATGGTATCCAGGCTCCATATTTCACCTTGAGGTGTGTCAGGTCCTTCCACTGCCAGCTCCTCACATCCGGGAGCGTGTGATGCCTGCTTGCTTCTCCTTTTGTTGTTTTAAGATTCACTAGTGGGTTCAGATATTGTCAGCCTGGTCTAGCCATTATGAAGTTCCCCGTCAGTCCTTCTCCCAGTTATTTTAGCAGTCACTGATGAACATTGCCTAGATTAATTATTTAATGATGAGTCACACAATGACAACTTTCCAGTTTTCTCACTCTCTCAGCATCTGTTAGCTAGAATGCTTCTACACTTCTACAAAGAGCTTTCATTCGCCAACTAGTGGTTCATGCAGTTCATGCAGAAAAGGCCAGGATCAATGTTTGACCCTTTT
TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTATGTTGATTCAGACAGTAAACAGTTTGGAAACAAAGACAACAAAGAAATGTGACCAGTTACTGGCTGTTTGATGATGACGTTGAGGAACTGTTGTTTAGACGTCACAGTGGTGTTGTGGCTATCTTAAAGAAAAAAAAAATCCTATCTTTTATAGATACTGACTTCAGCATGAAGACCTTGGAGCAATATGGCAAATACTTCCACTATAAAAATTTTTGTGGAGAGGGTTTGCAAGGAGGGAGAGCATCAGGAGGAACAGCTAATGATGCTAGGCTTAATACCTAGGTGATGGGATGACCTATGCAGCAAACCACATGGCACACATTTACCTATGCCACAAACCAGCACATCCAGCACAGGAACCCATCAACTTAAAATAAAACTTGAAGAAATAAAATAACCAAAATTTTTGTGGAAAAAATATAGGATTTTAAAAAGTCTATCTATACAATGCCTGTGTTTAAGTGTATTCTATAACTATGTTAAATATTACTTGTGCTTATAGCAAGCTTGGAAGGCGAGAGAGAAAAATGAAAACGGATTATCTGTTGGCAGGAACATGGGTGCATTTCTTTTTATTTTGCTCACCATTGATATTAGAATTTTTTAATAAAAACTTTTTCAGGCAACAAAATAAAGAACTTTAAAAAGTGTTGGTAATAGTAGGTCAAGGCATGAATTACACATTGATGACGAGTTACTAAAGGAAACTAAAAGATTTGTTTTCCTAACCGTAAATTTGGCTCATAAAACTGAAAAAGAGAACAAAACAAGGCCCACAGTTTGCACTAGGGTCAGGCCTGGTGGGAACATTTTCAAGGCAGGGTTACCCCCACTGCACCCCCACCTCCACCCACTCCCCACCATGAAGGCAGCAGTAGGCTCCACCCTCCCAGGTGGGTAATTCCAGCAGAAAGACTACCAGTCTTTTCAGCAAGACCCCCTAGGATTCATCAAAGTTCGCCTTGCTTGGCTAAGTGTGGCCACCCCCGAATGAGTCACCGTGACTCTGATAGGCTGCCAGAGAGCCGTTGGGTGATATTAGGAAAAGGATGGTTCCTCCAAGAAAAGTTGCTACTGGAGGAAGGAGGTGTGGATGCCAGGTAGGCAGGTGTCTTAGTCCGTTTTGAGCTGCTGTAACAAGAAACCGTAGCCTGGGTGGCTTGTAGACAACAAAAATGTATTTCTCACAGTTCTGGAGGCTAGGAAGTCCAAGGTCAAGCTACTGGCAGATTTGGTGACTGGTGAGAGCTTGCTTTTTTATTCGCAGATGGCACTTTCTTGCTGTATCCTCATGGGGTGAAGATGGCAAAGAAGCTCTCTGGGGCCTCATTTATGAGACCACTAATCCCATTCCTGAGGGTTCTTCTCTCATGACCTTATCACCTCCCAAAAGTCCCACCTCCTAATACCATCACATTAGGGGTTAGGATTTCAATGTATGAATTTTGAAGGGACACAGACATTCAGTTCCTAATAGTAGGCAAAAACAAGGGTGACCGTGACCCCTCTGCCCTGGGAGTAGGAGCTTAATTCCCACGTGCTTCCTTTTTGTTAGGTTTTGATCGCATTGAGAACCTGGAAGAGTACACAGGGCTGCGCTGTCTCTGGCTGCAGAGCAATGGAATACAGAAAATCGAAAACCTGGAGGCCCAAACTGAGTTGCGTTGCCTCTTCTTGCAAATGAACTTGCTCCGTAAAATTGAGAACCTGGAACCTCTGCAGAAACGGGATGCTCTTAACCTCAGCAACAATTACATCAAGACCATTGAAAACCTCTGTAAGGGTACCCAGCAAGCAGTGTGTCTGTTTGCCATATGTCCATCACCTTCCCCTGAGGGATGTTCTAAGCTTTTATATTATGGGCAAGAAGTGGTGTTTTTTTTTGTCTTTTTTTTGTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTTAGCCTCCAAAATAGCTGGGACTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAGAAGTGTTTTTGGTTTTGTTTTGCTTTGCTTCTTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGAAATGCAGTGGTGCAGTTAGAGCTCACTGCAGCCTTGACCTCCTGGTCTCAAGCGATCCTCCCACGTCAGCCTCCCAGGTGGCTGAGACCACAGGCATGTGCCACCAGACCTGGCAAGTTTTTCTACTTTTTGTGGATATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACCTCCTGGGCTCGAAAGATTCTCCCGCTTTAGCCTTCCAAAGTGCTGGGATTACAGGTATGAACCACTGTGCCTGGCCCAAGAAGCATTTTTATGCCTTTGTTTTTGACTTCTGCTGACCTTACCTTCCAGCCTGCCTCCCAGTCCTGAACACATTGCAGATGGCCCACAATCACCTGGAGACCGTGGAGGACATTCAGCATCTACAAGAGTGTTTGAGGCTTTGTGTCCTTGACCTTTCGCACAACAAGCTGAGTGACCCGGAGATCCTGAGCATTCTGGAAAGCATGCCCGATTTGGTAAAAAACAAAAACAAAAACAACGAAAAAGCACCACAGGAAACCGCTTCTATTATTTTCATCAAATATCAAGTCCTTTTGTCTTTTCTCTCCTTCCTGCCTTCCTTCCCTTTTTCACACTTTTTTCCTCTTTGTGTTTTTAGCTGGAGTATCTGAAATGCCAGTTATCGTATTATTTTACCCACAAATAGTTCAGTGTGTGCCTCTAACAGATAAGGACTTTTTTTTTTTGATATAGAGTTTCGCTCTTCTTGATCAGGCTAGAGTGCTGTGGCATGAACTCCGCCCACTGCAACCTCTGCCTCTGGGTTCAAGGAATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTTCAGGTGCCTGCCATCACACCCAGCTAATTTTTGTATTCTTAGTAGATTCAGGGTTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTTGAGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCATTGTGCCCAACCACCACTCAATTAATTTTTCAAGGAAACCAGGTCCTCTGTCTGGTGTTACCCACATTCTGGATTTAGCTGATTGCATCCTTGTGGTGCCACTTAACATGTTCTGCTGGCCCTGGTATTTCCTGTAAAATGATATCGGAGCCAGAGGCTGGATGGTATCCAGGCTCCATATTTCACCTTGAGGTGTGTCAGGTCCTTCCACTGCCAGCTCCTCACATCCGGGAGCGTGTGATGCCTGCTTGCTTCTCCTTTTGTTGTTTTAAGATTCACTAGTGGGTTCAGATATTGTCAGCCTGGTCTAGCCATTATGAAGTTCCCCGTCAGTCCTTCTCCCAGTTATTTTAGCAGTCACTGATGAACATTGCCTAGATTAATTATTTAATGATGAGTCACACAATGACAACTTTCCAGTTTTCTCACTCTCTCAGCATCTGTTAGCTAGAATGCTTCTACACTTCTACAAAGAGCTTTCATTCGCCAACTAGTGGTTCATGCAGTTCATGCAGAAAAGGCCAGGATCAATGTTTGACCCTTTT
Task1_train_22971
This alteration in COX4I1 (cytochrome c oxidase subunit 4I1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 16
CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGGATGAGAAAGTCGAGTGTGGGTATTGAAGGGACCCACAGGCGCGCCCAGCAGCTCTCGGAAGCGTGTGTGTGACAGAGCCTCTGCTCACTTCTGGGCCTACTGTCTAGAGGCAGTCTTGCACAGGAGGGTTGCTCTGCTGGGTTTCGGGGTCACTGTGCCAGGGCCCCAGTTTATGTGCTCACCAGTCACTTAGCTCTGCCAGCTGACAGGATCTTTTGCTAGGCCCCCTTCTCTGTGCTGAGTGGAGGTAGCCTCTCAGCATATCTGCTGGGTAAGACATAGTTAACTGTAAATTATTGAAAGAAACTCAGCAAAATGCATAGTGTTTGGTATGAAAGGGGCAGAAAAATAACAAGATTAAATAGACCCTAATACTGTAATTCAAGTAAGAAATAATTTTGCAGTTTTAATTTGCACCTGAAGCGAACTGTATGCATTTTCTTCTTTCCTTGCCCTGTCACATGCCTGCGTGGGCACGTGTGTGCACGTACGTGCGTGAACATGATGTGGCCTGGGTTGGTGTATCCTTCAGCTCTGTGTTTCCTCCTTCACAAGTGTGGTTTTGGGGAGAAGTGGTTGAATGTTGCAGAGGAGGGAGCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGCATTAAGTTCAAGGAGAGCTTTGCTGAGATGAACAGGGGCTCGAACGAGTGGAAGACGGTTGTGGGCGGTGCCATGTTCTTCATCGGTTTCACCGCGCTCGTTATCATGTGGCAGAAGCACTATGGTGAGTAGAGAGGGAGGAAGGCATGGGCGCCTGGACTGGGGCTCCAGCCTGCAGTGCCCATTGGTGGGCTGTCGGGGACCTCCATACCTTGAGGCTATGAGATAGGGACTGCATTCCAGAGTTCATCTCAGGATTGTTTCCAGGCCTTGGTGACCTGGAGAACTGAAGTCGTGGGAGGTTAGTTTATAAGCCAGCATCTGATTATTCATAGCCATGCTTGTTGGGTGGTGAAATACCTTAACTACTTTGTACAGCACACCACGTTTTCAGTAGCAATTTATGTGCTCACCAGTCACTTAGCGAAAGATGACTTCGTGAAGGTTCGAGCAAGGATAAGGGGACTCATTCATTGAATGACTGTCTGGACTGTTGTGAGGACTGCATCTCAACAGCCAGCATCTGGGGGTCCCGACCTGATAGTTTGTGTGTGGGCATTGCCGGGTTGCTCGCTCGTGGTAATGACTCTTCCCCGAGGTTCTTTCTGTCCAGGCAGAACAGGCATTTTTGCATTCTGAATAGGTATATTCTCGTACTTTTGGTTTGAATGTGGATGTGGGTTAATAACAGACCCGAATCTATTTGATCTTCCAGGTCACCTTGGGCTCTGTTTGTCAGATCCTGTTATCCATAGCCTTTAGAGAGGACCTTCTGCTTTTAGCTTATTTTGTTGCTAACTTTTTACAAACAAAGGGCTAATTTTAAAATGTCAGTGTTGTCAGTGGTCAGAAACCGTGTGTTTGAGCGGGTGTTGAGTGGCAGGTGGCTCTGCTGACCTGGTGGCTGGTGTGTCGGGAGGATTTAACCTGTGTGAGGGATTGGCCTAGAAACAACCTGTTGAGATAGTCTTGCCCCATAACCTGTCTCACACCGTAGTGTACGGCCCCCTCCCGCAAAGCTTTGACAAAGAGTGGGTGGCCAAGCAGACCAAGAGGATGCTGGACATGAAGGTGAACCCCATCCAGGGCTTAGCCTCCAAGTGGGACTACGAAAAGAACGAGTGGAAGAAGTGAGAGATGCTGGCCTGCGCCTGCACCTGCGCCTGGCTCTGTCACCGCCATGCAACTCCATGCCTATTTACTGGAAACCTGTTATGCCAAACAGTTGTACCACTGCTAATAAATGACCAGTTTACCTGAAACCCTTTGTGATCAGTTCTTTAATGATACCTAAATGAAAGCTAATTAAAACAATAGGTTTCTCCCAAGGGTCTGGAGTAAATATATTTTGGGTGCAAATGAAATGGCAAAAATCTAGTATCTTAAATTGTATAAGGGGACATTATATAAAAACTGAAAATATAGAATTCCTTGATGTAGGAAATTTGAGGTTTTTGGCAAGAGATCTTTATATAAGTAAAATCCCATTATCGTAGGCACACCGGCAGGAGTTACCACAACCCTTTTTTTTTGTTTTGGGAGACGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGCCGCACAATCTTGGGTCACTGCCACCTCCACTTCTCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGTGCCTACCACCACGACCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTATCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGTGTGAGCCAGTGTGCCCGGCCTATGAACCACTTTTCTTCTGGGACTGTCCCTCCCTCCCTGCAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTACTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCGCAGGGTTGGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCGTTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACCCCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGCGGCGGGGTAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGATGCTTCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCGCATCCCAGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCATTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGTGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCAC
CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGGATGAGAAAGTCGAGTGTGGGTATTGAAGGGACCCACAGGCGCGCCCAGCAGCTCTCGGAAGCGTGTGTGTGACAGAGCCTCTGCTCACTTCTGGGCCTACTGTCTAGAGGCAGTCTTGCACAGGAGGGTTGCTCTGCTGGGTTTCGGGGTCACTGTGCCAGGGCCCCAGTTTATGTGCTCACCAGTCACTTAGCTCTGCCAGCTGACAGGATCTTTTGCTAGGCCCCCTTCTCTGTGCTGAGTGGAGGTAGCCTCTCAGCATATCTGCTGGGTAAGACATAGTTAACTGTAAATTATTGAAAGAAACTCAGCAAAATGCATAGTGTTTGGTATGAAAGGGGCAGAAAAATAACAAGATTAAATAGACCCTAATACTGTAATTCAAGTAAGAAATAATTTTGCAGTTTTAATTTGCACCTGAAGCGAACTGTATGCATTTTCTTCTTTCCTTGCCCTGTCACATGCCTGCGTGGGCACGTGTGTGCACGTACGTGCGTGAACATGATGTGGCCTGGGTTGGTGTATCCTTCAGCTCTGTGTTTCCTCCTTCACAAGTGTGGTTTTGGGGAGAAGTGGTTGAATGTTGCAGAGGAGGGAGCTGCTGACCTTTGTGCCTGTAAATGGCTGTCCTCTCTGCCCCCAGTGTATCGCATTAAGTTCAAGGAGAGCTTTGCTGAGATGAACAGGGGCTCGAACGAGTGGAAGACGGTTGTGGGCGGTGCCATGTTCTTCATCGGTTTCACCGCGCTCGTTATCATGTGGCAGAAGCACTATGGTGAGTAGAGAGGGAGGAAGGCATGGGCGCCTGGACTGGGGCTCCAGCCTGCAGTGCCCATTGGTGGGCTGTCGGGGACCTCCATACCTTGAGGCTATGAGATAGGGACTGCATTCCAGAGTTCATCTCAGGATTGTTTCCAGGCCTTGGTGACCTGGAGAACTGAAGTCGTGGGAGGTTAGTTTATAAGCCAGCATCTGATTATTCATAGCCATGCTTGTTGGGTGGTGAAATACCTTAACTACTTTGTACAGCACACCACGTTTTCAGTAGCAATTTATGTGCTCACCAGTCACTTAGCGAAAGATGACTTCGTGAAGGTTCGAGCAAGGATAAGGGGACTCATTCATTGAATGACTGTCTGGACTGTTGTGAGGACTGCATCTCAACAGCCAGCATCTGGGGGTCCCGACCTGATAGTTTGTGTGTGGGCATTGCCGGGTTGCTCGCTCGTGGTAATGACTCTTCCCCGAGGTTCTTTCTGTCCAGGCAGAACAGGCATTTTTGCATTCTGAATAGGTATATTCTCGTACTTTTGGTTTGAATGTGGATGTGGGTTAATAACAGACCCGAATCTATTTGATCTTCCAGGTCACCTTGGGCTCTGTTTGTCAGATCCTGTTATCCATAGCCTTTAGAGAGGACCTTCTGCTTTTAGCTTATTTTGTTGCTAACTTTTTACAAACAAAGGGCTAATTTTAAAATGTCAGTGTTGTCAGTGGTCAGAAACCGTGTGTTTGAGCGGGTGTTGAGTGGCAGGTGGCTCTGCTGACCTGGTGGCTGGTGTGTCGGGAGGATTTAACCTGTGTGAGGGATTGGCCTAGAAACAACCTGTTGAGATAGTCTTGCCCCATAACCTGTCTCACACCGTAGTGTACGGCCCCCTCCCGCAAAGCTTTGACAAAGAGTGGGTGGCCAAGCAGACCAAGAGGATGCTGGACATGAAGGTGAACACCATCCAGGGCTTAGCCTCCAAGTGGGACTACGAAAAGAACGAGTGGAAGAAGTGAGAGATGCTGGCCTGCGCCTGCACCTGCGCCTGGCTCTGTCACCGCCATGCAACTCCATGCCTATTTACTGGAAACCTGTTATGCCAAACAGTTGTACCACTGCTAATAAATGACCAGTTTACCTGAAACCCTTTGTGATCAGTTCTTTAATGATACCTAAATGAAAGCTAATTAAAACAATAGGTTTCTCCCAAGGGTCTGGAGTAAATATATTTTGGGTGCAAATGAAATGGCAAAAATCTAGTATCTTAAATTGTATAAGGGGACATTATATAAAAACTGAAAATATAGAATTCCTTGATGTAGGAAATTTGAGGTTTTTGGCAAGAGATCTTTATATAAGTAAAATCCCATTATCGTAGGCACACCGGCAGGAGTTACCACAACCCTTTTTTTTTGTTTTGGGAGACGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGCCGCACAATCTTGGGTCACTGCCACCTCCACTTCTCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGTGCCTACCACCACGACCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTATCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGTGTGAGCCAGTGTGCCCGGCCTATGAACCACTTTTCTTCTGGGACTGTCCCTCCCTCCCTGCAGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTACTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCGCAGGGTTGGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCGTTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACCCCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGCGGCGGGGTAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGATGCTTCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCGCATCCCAGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCATTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGTGAAACCCCATCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCAC
Task1_train_22972
A change on Chromosome 16 affects gene IRF8 (interferon regulatory factor 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCA
TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGGCGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCA
Task1_train_22973
The variant affects gene IRF8, LOC130059663 (interferon regulatory factor 8| ATAC-STARR-seq lymphoblastoid active region 11295), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Immunodeficiency 32B
GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCACATGTGTATATTTGGAAAGGCCAAAAAGAGATTTCCTGCCAACTGGCAATACAAAAAAGACCCCAACCTGCCAACACGTTTTGC
GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTCGTCTGTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATTCGCTTGAACCTGGTAGGTGGAGGTTGCAGTGAGCCAGATTGCGCCACTGCATTCCAGACTGGTGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAAAACTAAAATAAATAAAAATAAAAAATAAAAAAAGACAGCTACCGAGACCCAACCTCCCTTCCCCAGTGAGAATCTTGAGGGGCAAGGCCCAGGAATCTGCATTTTCACAAGCTTCCCAGGGGCAGGGGGTTGGTATATGCATTAAGCCTGAGAACACTTGCTGTGGTGGGGAAACTGTTGGGTTGGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGGCCTTGGGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAAGTGGGTACAGCTGGCATTTAATCCCAGACTGGGTGACCTTGCGAAAGTTACTTACCTCTTGGAATTGCATTTTCCTGAATGGGATCGGGATGTCCCTACAGATCTCCTATCATTTTAGGCTGGAGGACACTGCCTGATTTTTCCTGAAACCGAAGATAATTCTCATCTGACTGTGGTTACCTCCTAGTTGGTGTGTCTGTATTCCAATTTTGCAAGCTTAAAATCTGTCCATTCACCTGTCTTATTTTTTTAAAATCTGTACTGCCCCATTCTACATTATGACTTTAAGATTTCAGCTTTGAATTTCTGGTCCTAGTTCAGATCCTAAGGTTTGGAAAAGTCAGAAAACAGATCTATTAAAAAAAACACACACACATTAAAGGGAAAGTACTTCATTACATTTTAAACAGCACCTGGGGGGAAAAGTCTAGAATAAATGCAAAAATGCAAAACAAAATTTCTATTAAAAGTAACAGGGCGATGGATGACCATTTTGACTTTTTGCAAATGTTCCCTTTTCATGCTAAATTTTAGGGGTTGATCTGAAAAAGCAACAACTTGTTCTTTGTTTTGAACGCTCTGGTGAAACCATATGCAACTTCCTCTTTGTGCTGTGTAAACCTCAGGTGTCTCCAGCTCTTCAGCCAGGCAAGGGCTTGGCTAAAAGGTGCACTCCAGGGTTGGAGGAGCCTTCAGCCTGGGTTCGACTTCTGACTCAGCTGTATGAACCTGGGGGACCCCCTCCCTGGCTTGGGTCTTTCCACATCTGGTCCCCAGATGTGAAAAGACTCAAGACATCTGATTGGAGTCTCTTTGGGTCCTGAAATTGAATGAGAGTTGATGGCCAACAAAGATTCATGGGAAGGGAAGGATGTGTGGGGTCCTGGTCATGGTGACGGATATTTGTGATTGGAGTCGGCCATGAATTTAATGTGCTTCTGTTTCTTTCTTCAGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAACTGGACATTTCCGAGCCATACGAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGTAACTATCCTTTATGGGCATGAAACCTTCCAGAAGCTGCCCTGGCCTGTAGCCTTCACCACAGAACTTGGGTCTGGGGTAGACACAGGGTCTGGGGCACATAGTTTCAGTTAAACAAAGCAGTTCTCTCCTTCGTGTAAGCAGAAATTGAGATCTCTTTCCAGTGACCTCAGAGGGAAGGGCGGAGGAGATTGGGTGCTGCCCAACCTGTGCCCCACTTGCTGCCTGACCACAGACATTTGTAGGGCCTCCCTGGACAGGAACAAGCATCCTCCAGCAGTTTCTGATGAGGAATCCTTTCATTTTCCAGCAGCTTGCAGAGGAGGCCAGGGGAAAATATGGTGACCACAGAAGGCCTGGATCATGAGGGTTGGGAGTAAAGCTCTCAGATGAAGTTGTCAAAGATGGCACCATGGCCTTCGTTGTTGGAGATGGGATATGCCTCAGTGTGTTACTAGATCCTGATTGTTATTTGGGAACTCCGGGATGTGATCATTCCTGAGGTTTCTTCCAGCTCTCAAATCCCAAGAAAGCATTTGTGACAGATTAAAGCAGGACAGCAAAAACATGCCGCACCCTGGTCCTACATCACTAAAATAAATCCCAAAGTACTGAGCTGGGATCTGGCCTCAGAAGGCTTCTCAAAGCCCTGTGCTGTGCCGCTGCCATGAATTGTAGCTGATTTATGAGATAAAACCTAATTACCAGCGCTGGTTTAGAACATGCTTTTAACACATTGATTTTCTTAGCCACTTGATGAGGCTTTTAGAATAACCCACTCTGGCTTTCTCCTTCTAAGCTTCTGAGTAGTCCACGAATGCCTGTAAGAAACAGAAACCCCCAAAACTTCTTGGGGCTGTGCAGAAGTTTGAAGTTTGCACTCTTCCCGCTGTGGGGGTGTTGACTTAGAATTTTTTAAGAAGTTAAAATGGTGATTCAAACAAATCTATAGTGAATCTGTGTCAGAGAGTTGTGTAATCGTCATGAAGGAGGCAGCATGATGGTAAAGATGGTGGACAGAGAATCCGAGGTGCTGGTGAATGTGGCCCATGAACGAGAAAGCTGAGCCAAAGCCGATGCCCGACCCGGACAGTACAATTGCGGTTTGGGGCGTTTGTAGCCTAATCGTCTGCAATTAGCACCTAACTCTACTGAGCGTGAACCCTAGTCAATACTAAATAGTAAGGCCAACAAACTGACCTTCCCTTGGAGAATCGGGTGCCCTTTAGGAGGAAACCTCTATATAATAGTCTGGGGTGACCCTGAAAGGCTAAGCAGTCATCTTTTTGCCTCATTTCCCAGTTTTGGACAATTTTTTTTATCACCAAAAAGTAAAGTGTGATTTGAAGGAATAGAGAAGTTTCTTTTGGCCCCTACTGCCACCCCCAAGATCAGTCAGGCTTGAACCGGCAGGTGACCCCAACTTGTTTATAGCATGGGGTGCAGCCAGCATCACCTGCTAGTGATGTTAAAGAAGCAGCAGGAGGTTCTCAGGGGTGAAGCAATGTAGCATTTGCATAATTGCCTACAGGGGCCCACTCGCCTCTAACCTCAGTGGTTTGCAGGCTCCATGGTGGGCGCCCCACCTGCTCCCTACTTCCCCATCAGTAGCTTCTCAGTGAATTCTTTAATCTATCGAAATGGAATCAAAATTCAGCCAGGAGGAAACAGTGGGTAAATTCTGTAGGTCACTGGGAATAATGAATTTTTGTAAGTGTTGGTTGTGATACGTCTCACACTGATAAACTTCATAAGGTAAGTTGTCGACTGAGGAAGCGGCATGAGAAGGGAAAGAGCAGAGGCTGGCCCAGCGTGCCCCTGTGGACACTGTGCACCTTTAGGCGGTTTGTGATTACGGCTGGTGCCCACTGGGCATCAGTGAGGGTGCTGCGGTGTGTGTGTGTGCATGGCTGTGTGCACTGATGCACATGTGTATATTTGGAAAGGCCAAAAAGAGATTTCCTGCCAACTGGCAATACAAAAAAGACCCCAACCTGCCAACACGTTTTGC
Task1_train_22974
A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGGCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
Task1_train_22975
Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGTCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTG
Task1_train_22976
Here is a mutation in FOXF1 (forkhead box F1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCA
CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGAACTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCA
Task1_train_22977
A change on Chromosome 16 affects gene FOXF1 (forkhead box F1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAG
GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCCTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAG
Task1_train_22978
Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCAC
GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCCGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCAC
Task1_train_22979
A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTC
GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCAAAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTC
Task1_train_22980
A variant on Chromosome 16 in gene FOXF1 (forkhead box F1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCC
GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTTGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCC
Task1_train_22981
The gene FOXF1 (forkhead box F1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment
CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCTTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCCTTGCAGGCATCCCG
CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGTTCAGATCCGAGCGTGGCGTGTGTACGCGTGAGTGGGAGTGAGTGCGAACTTAAGCTCCTGTGGGCCTTAAGCTTCCGTGTCAACGAGTGCATTAGTGGGTGCGCACATGCCTGAGCGCCCTCTGCATATGAGTGTGCACACACGCATGGGTGTGTTTACACGTCTGTTTGCGTAATTTACCGGGTTTGCATGTGCATCAAGACATGTATGTGTGTGCTAATGTGTGGACAAGAGCGCGAGGGTGTGCGCGCACGGGTGAGTGACTGAGCACGCCGCTTATTCAGGGGCCTGTGCGGTCTGGGTCGCCTCTGGGCCAGCGGGTTCTCACTCGCCCCCGTCAGGCCCGCGGCGCCCGAGACAAAGCGGCCGCGACTCGTGCTGCGCTTTCGTTTTCCGCCTGCGCTCTGCCCCGGCGGCTGCCCGCCCGCTCGCAAGCTGCTGGGCGAGTCCGAAAAATCCCGGGAGCGGCGCAGTTCTTCCCGGGGCGGGGAGAGTGGGTAGGCGGTCCCTCGCGGGAACTTAGCCGGCCGGCCGCGAGGACCGGAGTCGAGCCGGCTGTGCCTGCGATGGTCACGACCGGGAGGCCGCCGCACTTGCGATTTGCTACAGGGCTGTGCGCGTCGGGGAAGGCCCCGGCCCAGGGAGCGTTTCCCGCCGCGCCGCCCGGGCGGGGAAGGCGGGGTCCAGCGCGCACCGGGGCTGAACCGCGGGCGGAGGGCGCATTAACACTTGCTCGCCAGGTTGGTGGAGGCGGGGCGGATTCTGCTGGCGGCCGCGGGGCGGCGAGAGTGGGGGCTCTTTAAGCGCCCACCAACGCGGGGGCCCGAGGGGGGCAGGGACGGAGGGAGGGAACTCCGGGAGGGTCTTAGGCCGACCCGCGAGACGCAGCCGAGCGGAGATGGAGTGAAGGCTGCCTCGCCCGGAATCTCGGAGCCGAGCGCCGCGGGCGGCGGGGACTCAGGGCTGCTCCCGGCTGGGGCGCACGGCCGTAAGACCTGGAGGTGGTGCCTCCCCCCAAAAAATACCGGCGGGGGTAGCTTCCTCACGGCCTTCGCCCGGGCTGCCCTCGGCCTCAGCTCGGCTCCTTTCCTTGTGGGAGGGCGAGAAAGAAAGAGGGAGGAGAGAGGTGGGGGAGGCGGGAGTTGGAGAGAGAGGGGCTCTGAGCCAACCGCCGGCGGATCCAGCAGCTCCTCGGGGAGGGCGGGCGGGAGCGCGGGGGCGGGCGCGCCGCGGCTCGCTCGGGAGAAGTGGCCGCCGATGACGGCAGAGGTGCAGCCAGCCCCGCGCGCGCAGCCCCCTCCCCTTCGCCCTCCTCCCCCCCGTCGTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCCGGCCCGTCCGCGGCGCAGAGCAGCGGCGGCAGCGGCGGCGGCGGCAGCAGCCACCCGATGTCTTCGGCGCCCGAGAAGCAGCAGCCACCGCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCGGCGCGGCCATGGACCCCGCGTCGTCCGGCCCGTCCAAGGCCAAGAAGACCAACGCCGGCATCCGGCGCCCGGAGAAGCCGCCCTATTCCTACATCGCGCTCATCGTCATGGCCATCCAGAGTTCACCCACCAAGCGCCTGACGCTGAGCGAGATCTACCAGTTCCTGCAGAGCCGCTTCCCCTTCTTCCGGGGCTCCTACCAGGGCTGGAAGAACTCCGTGCGCCACAACCTCTCGCTCAACGAGTGCCTCATCAAGCTACCCAAGGGCCTTGGGCGGCCCGGCAAGGGCCACTACTGGACCATCGACCCGGCCAGCGAGTTCATGTTCGAGGAGGGCTCCTTTCGGCGGCGGCCGCGCGGCTTCCGAAGGAAATGCCAGGCGCTCAAGCCCATGTACAGCATGATGAACGGGCTCGGCTTCAACCACCTCCCGGACACCTACGGCTTCCAGGGCTCGGCCGGCGGCCTCTCGTGCCCGCCCAACAGCCTGGCGCTGGAGGGCGGCCTGGGCATGATGAACGGCCACTTGCCGGGCAACGTGGACGGCATGGCCCTGCCCAGCCACTCGGTGCCCCACCTGCCTTCCAACGGCGGCCACTCGTACATGGGCGGCTGCGGCGGCGCGGCGGCCGGCGAGTACCCGCACCACGACAGCTCGGTGCCCGCCTCCCCGCTGCTGCCCACCGGCGCCGGTGGGGTCATGGAGCCGCACGCCGTCTACTCGGGCTCGGCGGCGGCCTGGCCGCCCTCGGCGTCCGCGGCGCTCAACAGCGGCGCCTCTTATATCAAGCAGCAGCCCCTGTCCCCCTGTAACCCCGCGGCCAACCCCCTGTCCGGCAGCCTCTCCACGCACTCCCTGGAGCAGCCGTATCTGCACCAGAACAGCCACAACGCCCCAGCCGAGCTGCAAGGTGAGTGGGGAGGCCGAGGGCGCCCTGGTCCCCGGGAAGTCGAGTCTGAGTGGCAGCGGGACCCAGCTGGGGCGAGCCCCTCCACTTCTGTGGTCGGAACCCCAAGGCTGAGGGGAGGCACCAGCTCCCCAAGGTGTCTCTTGGCCCCACCTCTCCCCCTTCGAAGAGTGACTACCGCTCTTGACCCTAGTTTGGGCCAATCTGTTTCTCTTTCTGTTCGAACTCCAGCTGCCAGCTGCTCCAGGCCTGACCAGGTAGGCTGGTCCTGAGCCAGATGTCCCAGACCCCAGTGCCCTAAGTCCTTTTGTGTCCCTTAAGTCCCCTCACAGCTTGGAAAGATCCTGGGATGGACCCAAGGCTCCCAGCGCTGGCCAGATGGCTGTCCCTCCCTGGTGGTGGCCCTCAGGCTGCCTGGAGGGCTGCCTCTGCCTGGGGCTGGGCGGAACGGAAGGTGTTAGGCCCAAAGCCGCTGGGCCAGCGCTCAGAGGCTCAGCCCCGGCCTTTCAGGGGACCAGACCTGGCAGACCCACAGCTGAGTCCAGGGGCATTTTGTGGTGACTGAGGCAGGAGGGTGCCGTGGCCAGGCCCCGGAGGGTCAGAGCTGCAGACCGGGCCATGGGGGCTCCTTGTTTTTTAGGATCCAAGTTTTCAGGTCCCCACACCCCCAACACCCCTGATACCCCAATACCCCGAACATGCAGAAGCATCTGCCAAGGGAGATGCAGCAGCCTCGCCTCCTGATTCTGCCCCAGGCCCCCCGCAGCCTGCAGGCCCAGCTCTGGAAAAAGCTGGAGTGAGCTTGCCAGGGCCAGTCCAGGGTCAGCTGTCAGCAGCCCCAGGAGGCAGGAGCCAGGCCTGGAGGCCTTAGGCAGCCTCTCTGCGGGGGACTCCCCGGCTCCGGGGCCTGTTCTCTGGAGAAGCTTCTTCTCACCCCTGCTGCTGGCCCGGCGCTGGCCCTGCACTGGCCTCTCCTTCAACCCCGCCGGCAGTCGTAGCCTCTGAGGTTGGGGGTGGTGGTGGCTGCCCTGGCGGTGACGGCCATGGGCGTTAGGGGCCCTCCACTTGGTCTCCCTCACCACTTCCCCTATGGCTCTGGAAGCCCTGGGCCCCTGCACGGTGTCCGAGGCTGGACAGGCACGCAGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCCGTGGCAAGTGTTCTGGAGTCTTTTCCTTGGGTGCGCAGCTGGAAGGCCGGGACTCGGGGAGGAGAGCGGGGAGGCGGCCGTGCTCTGGAGCCAGGCTGACAGGCCCTGTGCGCCCCACGGGAGCACTGCTCCTCTGCCTGAACTCTGAGCCACCGTGGCTAACTCTTCTGCTCCCCCAACCCCTCCTGTCGCCTCGCCTTGCAGGCATCCCG
Task1_train_22982
The gene FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Distichiasis-lymphedema syndrome
GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAA
GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTTTTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAA
Task1_train_22983
This mutation occurs in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Distichiasis-lymphedema syndrome
CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTT
CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCACCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTT
Task1_train_22984
A sequence alteration has been identified in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Distichiasis-lymphedema syndrome
ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCA
ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAATTTCTACCTGGGAAAAGGGAGACGAGTTTCGAAGCTGAAGTTGGTAGGCTGCGAGTGTCCACGCGGGAGACGAAAGGGGGAAATAGCAGAGTCACTTCACCCTTTTCCCCAAACCCCACAAAACTGCTCGCAGCGACGCGGATGATCTACCGAATTCCCCGCGAATTCGGAGGATTAAGTTGTCAGTCAGCACGTTGCTACCTTCCCCTCTATGCACTCCGCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTTGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCA
Task1_train_22985
The gene FOXC2 (forkhead box C2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Distichiasis-lymphedema syndrome
AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCCCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCATTTTTTACAAACGAGGTGTGTTTGCAAACCCACCTGCTTTGATTATTTTTGTTACACAGGTGGGTATATGTGTAGACACATAAAAACGACCAGAGAATAGGAGCACACACCTGCTGTCTTGTTTAGTGACAGAAAAAGGCTTTTGATTAATTTTAAAATCCCACTCTAGGATTTTTTCTTTTCGAGAAACCGCCCAGTTGGAGGGGGCTGCCTGAAGGACCGGACCATGAGTTTGCCGTGATGCATTTTCTTAAATGCACAAAAACATGCTAATTGTCAAAACAAACAGTGCCACTCCATCTCAGTGTCCAGCCGTCCCCAGTTTAGGAGGTGAAGGAAGGGAAGAATAAACATTTCCCGTTTGCTAACTGCAACCCAGGGTGAGTCCTGCTTTCCCCCGATTTTATAAAATTTGAGCCTCTTTGCCTGCTTTAATAGTTTTCCAGAGAATTTGAACTGGGCCAATGAAGGTCTGAAGGGGACGGATTTTCTAGCGTTTGATATCCATCCCCCTTAGCGGCCAGATCAGAGGGGAATTTCAGACTTTATTACTTCTCAATGTCATGTCTAAATCTACACCCTCATCGCAGTGAAAAATTTTAAAACCTCATTACCCTTCAAAAATAATTTATGATATTTTTAGAGTTCTAAATTCAAGTTTTTCAATATGTTAAATAATAGAGATTATTTTTTGTTTTCAATGTTAATATCTCGTCTTTTACATTTTTAATAGTAACATAGTTTTTGTGAAATGTAGCTGACGAAATGGCTTTATTATCTATTTCAATGGCTGAAGTCCACCACTCCCCTGCTGGCCTCTATGTGTGAATT
AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTTTCAGCAAGAAGACTTTTGAAACTTTTCCCAATCCCTAAAAGGGACTTGGCCTCTTTTTCTGGGCTCAGCGGGGCAGCCGCTCGGACCCCGGCGCGCTGACCCTCGGGGCTGCCGATTCGCTGGGGGCTTGGAGAGCCTCCTGCGCCCCTCCTCGCGCGGGCCGAGGGTCCACCTGGGTCCCCAGGCCGCGGCGTCTCCGCTGGGTCCGCGGCCGCCCGCCTGCCCGCGCTGCCGCCGCCGGGTCCTGGAGCCAGCGAGGAGCGGGGCCGGCGCTGCGCTTGCCCGGGGCGCGCCCTCCAGGATGCCGATCCGCCCGGTCCGCTGAAAGCGCGCGCCCCTGCTCGGCCCGAGCGCCGCCGCCCGCGCACCCTCGCCCCGGAGGCTGCCAGGAGCCCGGGGCCGCCCCTCCCGCTCCCCTCCTCTCCCCCTCTGGCTCTCTCGCGCTCTCTCGCTCTCAGGGCCCCCCTCGCTCCCCCGGCCGCAGTCCGTGCGCGAGGGCGCCGGCGAGCCGTCTCGGAAGCAGCATGCAGGCGCGCTACTCCGTGTCCGACCCCAACGCCCTGGGAGTGGTGCCCTACCTGAGCGAGCAGAATTACTACCGGGCTGCGGGCAGCTACGGCGGCATGGCCAGCCCCATGGGCGTCTATTCCGGCCACCCGGAGCAGTACAGCGCGGGGATGGGCCGCTCCTACGCGCCCTACCACCACCACCAGCCCGCGGCGCCTAAGGACCTGGTGAAGCCGCCCTACAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCGCCCGAGAAGAAGATCACCTTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGAGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCGCGACGACAAGAAGCCCGGCAAGGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGCCGGCGGCGCTTCAAAAAGAAGGACGTGTCCAAGGAGAAGGAGGAGCGGGCCCACCTCAAGGAGCCGCCCCCGGCGGCGTCCAAGGGCGCCCCGGCCACCCCCCACCTAGCGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGGTGGAGACGCTGAGCCCCGAGAGCGCGCTGCAGGGCAGCCCGCGCAGCGCGGCCTCCACGCCCGCCGGCTCCCCCGACGGCTCGCTGCCGGAGCACCACGCCGCGGCGCCCAACGGGCTGCCTGGCTTCAGCGTGGAGAACATCATGACCCTGCGAACGTCGCCGCCGGGCGGAGAGCTGAGCCCGGGGGCCGGACGCGCGGGCCTGGTGGTGCCGCCGCTGGCGCTGCCCTACGCCGCCGCGCCGCCCGCCGCCTACGGCCAGCCGTGCGCTCAGGGCCTGGAGGCCGGGGCCGCCGGGGGCTACCAGTGCAGCATGCGAGCGATGAGCCTGTACACCGGGGCCGAGCGGCCGGCGCACATGTGCGTCCCGCCCGCCCTGGACGAGGCCCTCTCGGACCACCCGAGCGGCCCCACGTCGCCCCTGAGCGCTCTCAACCTCGCCGCCGGCCAGGAGGGCGCGCTCGCCGCCACGGGCCACCACCACCAGCACCACGGCCACCACCACCCGCAGGCGCCGCCGCTCCCGCCGGCTCCCCAGCCCCAGCCGACGCCGCAGCCCGGGGCCGCCGCGGCGCAGGCGGCCTCCTGGTATCTCAACCACAGCGGGGACCTGAACCACCTCCCCGGCCACACGTTCGCGGCCCAGCAGCAAACTTTCCCCAACGTGCGGGAGATGTTCAACTCCCACCGGCTGGGGATTGAGAACTCGACCCTCGGGGAGTCCCAGGTGAGTGGCAATGCCAGCTGCCAGCTGCCCTACAGATCCACGCCGCCTCTCTATCGCCACGCAGCCCCCTACTCCTACGACTGCACGAAATACTGACGTGTCCCGGGACCTCCCCTCCCCGGCCCGCTCCGGCTTCGCTTCCCAGCCCCGACCCAACCAGACAATTAAGGGGCTGCAGAGACGCAAAAAAGAAACAAAACATGTCCACCAACCTTTTCTCAGACCCGGGAGCAGAGAGCGGGCACGCTAGCCCCCAGCCGTCTGTGAAGAGCGCAGGTAACTTTAATTCGCCGCCCCGTTTCTGGGATCCCAGGAAACCCCTCCAAAGGGACGCAGCCCAACAAAATGAGTATTGATCTTAAAATCCCCCTCCCCTACCAGGACGGCTGTGCTGTGCTCGACCTGAGCTTTCAAAAGTTAAGTTATGGACCAAATCCCATAGCGAGCCCCTAGTGACTTTCTGTAGGGGTCCCCATAGGTGTATGGGGGTCTCTATAGATAATATATGTGCTGTGTGTAATTTTAAATTTCTCCAACCGTGCTGTACAAATGTGTGGATTTGTAATCAGGCTATTTTGTTGTTGTTGTTGTTGTTCAGAGCCATTAATATAATATTTAAAGTTGAGTTCACTGGATAAGTTTTTCATCTTGCCCAACCATTTCTAACTGCCAAATTGAATTCAAGAAACCGATGTGGGTTTTGTTTCCTGTACAATTATGAGATATAATTCTTTTTCCCATTGTAGGTCTTTTACAAAACAAGAAAATAATTTATTTTTTTGTTGGTGGATAAAGAAGTCAAGTATCTGATACTTTTTATTTACAAAGTGTGATGGTTTTGTATAGTAGGTTCCACCCTGAGTATTCCTAAAAGAAAAAAAAAAAAAAAGCTTAAAAACTCTAACTTCATCTGTGTTTGTCTTACGTGGTCTTAATCGTTGTACTTACCTTAAAATAAACCCATGTTGTTTTTTCTGCCCAAAGTTTGGACAGTGTGTTTGTGTTGTTGCATTTTTTACAAACGAGGTGTGTTTGCAAACCCACCTGCTTTGATTATTTTTGTTACACAGGTGGGTATATGTGTAGACACATAAAAACGACCAGAGAATAGGAGCACACACCTGCTGTCTTGTTTAGTGACAGAAAAAGGCTTTTGATTAATTTTAAAATCCCACTCTAGGATTTTTTCTTTTCGAGAAACCGCCCAGTTGGAGGGGGCTGCCTGAAGGACCGGACCATGAGTTTGCCGTGATGCATTTTCTTAAATGCACAAAAACATGCTAATTGTCAAAACAAACAGTGCCACTCCATCTCAGTGTCCAGCCGTCCCCAGTTTAGGAGGTGAAGGAAGGGAAGAATAAACATTTCCCGTTTGCTAACTGCAACCCAGGGTGAGTCCTGCTTTCCCCCGATTTTATAAAATTTGAGCCTCTTTGCCTGCTTTAATAGTTTTCCAGAGAATTTGAACTGGGCCAATGAAGGTCTGAAGGGGACGGATTTTCTAGCGTTTGATATCCATCCCCCTTAGCGGCCAGATCAGAGGGGAATTTCAGACTTTATTACTTCTCAATGTCATGTCTAAATCTACACCCTCATCGCAGTGAAAAATTTTAAAACCTCATTACCCTTCAAAAATAATTTATGATATTTTTAGAGTTCTAAATTCAAGTTTTTCAATATGTTAAATAATAGAGATTATTTTTTGTTTTCAATGTTAATATCTCGTCTTTTACATTTTTAATAGTAACATAGTTTTTGTGAAATGTAGCTGACGAAATGGCTTTATTATCTATTTCAATGGCTGAAGTCCACCACTCCCCTGCTGGCCTCTATGTGTGAATT
Task1_train_22986
A variant was discovered in gene ZNF469 (zinc finger protein 469), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Keratoconus 1
GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCG
GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCACCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCG
Task1_train_22987
This is a variant in ZNF469 (zinc finger protein 469), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Keratoconus 1
AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAA
AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTCCGGGAGGGGCATGAGACACCACCAGCTCAGGCCGGTGGGAGGGTCCTGTGACCTCAGGAGGCAGCCCCCGCCTCCACAGAGGCAGCAGGGTCTCTGAGAGTGCTCCAGGCCTGAGGCCTGTCCCTTCAGCTCCCAGCTGCTCTGCTGCTGGCTGTGTGACCCTGGCCAAGTCATCCGCCTCTCTGGGCCTGCCATGAGGACCCAGGGGTCAGTGGCAAGGACAATGCCTGCAAGGGCTGAGCCCTGCCTCACTCTGCTGTGTAAAGGACGCCCGGTCCCTGCTGGGCAAGTCAGAAGGGGCCCCCACACGGAGCGGCCTGCGCACCTCGTGGCCACAGCCAATGGCTCGGGTCTGAGTCCTGTCCGCACAGAGGACAGTCCCGTATGTCATGACATGAGAACAGACATGATGAGTGTGAAGCCAGCCCTGGGTGAGCAAGGGGCCAGGCTCCTCTGGGCAAGCGGCTCCTGCTACATCTGGCATGTGCCAGAATGGGAGCCGGCACCGTCTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCATCCACCTGGGCCCTCCTGGACGCTGCCAGGACCCTGCCCTGGGGCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCCATCCCTGAGAGGCCAGGCCCCGAGCAGCACCCCTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAGGCTGGCGGGCAGGGCAAAGGGCAGCCCCCCACAGCGCTACATTCTGGGCATCGCCAGCTCGAGGACCAAGCCCACCCTGGACGAGACACCAGAGAACCCACAGCTGGAGGCTGCCCAGCTCCCTGAGGTGGACACCCCCCAGGGCCCTGGGACTGGAGCTCCACTCAGGCCGGGCCTCCCAAGGACTGAGGCCCAACCCGCCGCCGAAGAGCTTGGCTTCCACAGGTGCTTCCAGGAGCCACCCTCCAGCTTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAA
Task1_train_22988
Here is a genetic alteration in ZNF469 (zinc finger protein 469) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Keratoconus 1
CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAAGACCTTCCTGTTAGCTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGT
CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCTACCCGCTGCCCACCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCCGCCAGGCTGCCCCAGCTGTGGGACCCCACAGCAGCCCCTTACCCCACACCTCCTGGGGGCCCCCTGGCTGCCACCAGGAGTATGTTCTTTAACGGCCAGCCCAGCCCAGGCCAGCGGCTCTGCCTCCCCCAGAGTGCCCCCCTGCCTTGGCCCCAAGTGCTCCCGACCGCCCGGCCAAGTCCCCACGGAATGGAGATGCTGAGCCGGCTGCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCCCTGGGCACTGCTGGCAAGACACCGGGACCCAGAGAGAAGCTGCCAGCCGTGAGAAGCAGCCAGGGCGGCTCCCCAGCACTGTTCACCTACAACGGAATGACAGACCCTGGGGCTCAGCCCCTGTTCTTCGGGGTGGCCCAGCCCCAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCACGCGAAGACCTTCCTGTTAGCTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCGGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGT
Task1_train_22989
This sequence variant lies in ZNF469 (zinc finger protein 469) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Cardiovascular phenotype
CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCT
CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCGGACCCCCAAACCCCCCGCCCTGGGGACAGGGGCTGCCCAGCCCGAGGCAGGCCCAAAACGCGTTCCCTGGGTCTGGCCCCCACCGAGGCGGATGCGCCCAGCCAGGGCAGGCAGCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCATTCTGAAGATCGTGCAGCAGAAGAACAGGCGCCACCGGCGGCTGGGGCGGCGGGCGGGCAGGTGCGGCTCCCTGGCGGCGGGGAGGCCCCGGCCCGGAGCTGAGGACCGCAGGCTCCGCGAGTACGACTTCGCCTCGGAGTCCGAGGAGGACGAGCAGCCTCCGCCGCGGGGCCCCGGCTTCAGAGGCCGGCGGGGCCGAGGCGAGAAGAGGAAGGAAGTGGAGCTGACCCAGGGTCCCAGAGAGGATGAGCCACAGAAACCCCGGAAGGCGGCGAGGCAGGAAGCCGGCGGGGACGGAGCCCCCGCGAACCCCGAGGAGCCGGGCGGGTCTCGCCCGGGCCCCGGCAGGAGCCCTCAGGCCCGTGGCCCGTCTCGAAGCCTGGAGACGGGAGCGGCCGCCAGGGAGGGAGGCCCCAAGTGTGCTGATCGCCCCTCAGTGGCCCCCAAGGATCCCCTGCAGGTCCCCACCAACACCGAGACCTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCTCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCT
Task1_train_22990
Here is a mutation in ZNF469 (zinc finger protein 469) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Keratoconus 1
CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGCAGGCAGGGGACTCCCAGGGCCAGACCCCCAGAGCAGGGGAGCCCCGCCCCACACCAACCCTGACAGGATGCCCAGGGGCCACTCCTCGTATTCTCCAAGCAATACTGCCCGCCTCGGCCACAGGGAGGGCCAGGCTGTCACAGCTGTGCCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCCTGCATCTACAGAGAACGGCCAGTGGAAGGGCCAAGCTCCACATGGGCCTGTGACCTGTGAGGTCTGCGCAGCCTCCTTCCGCTCCGGGCCGGGCCTGAGCCGGCACAAGGCCAGGAAGCACCGGCCACACCCGGGAGCCCCCGCGGAGCCGAGCCCAGCGGCCTTGCCTGCTCAGCAGCCTCTAGAGCCCCTAGCCCAAAAGTGCCAGCCGCCCAGGAAGAAAAGCCACAGGGTGTCTGGGAAGGAGAGACCAAATCACTCACGGGGAGACCCCAGCCACGTCACCCAGCCACCGCCTGCCCAGGGCTCAAAGGAGGTTCTCAGAGCACCGGGGTCCCCACACAGCCAGCAGCTGCACCCTCCA
CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGGACCCCCCTGCCCGCCAGCCTGGAGAATTTCTGGCACCCGTGGCTAACCCCTCAAGTACCGCCTGCCCCAAACCCAGTGTTCTGTCTTCAAAGATCTCCAGTTTTGGCTGTGACCCTGCTGGTTTTAACAGAGACCCCTTGGGGGTTCCAGTTGCCAAAAAGGGGCCTCAGCCCTACAGCAGCCCCCACAGTGAGTTGTTCCTCGGACCCAAAGACCTGGCTGGCTGTTTCCTGGAAGAACTGCACCCCAAGCCCTCAGCCAGGGATGCCCCGCCGGCCAGCAGCTCCTGCCTTTGCCAGGACGGCGAGGATGCCGGTTCCCTCGAGCCACAGCTGCCAAGGAGCCCACCTGGCACCGCTGAGACGGAGCCAGGCAGGGCTGCATCGCCACCGACCTTGGAGTCCTCATCCCTCTTCCCAGACCTGCCGGTGGACAGATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCGAATTAGAAAGTCAGCTGCAAAGGAGCAAAGACACACGTGGGGCCCCGAGAGAGCTTGCAGAAGCTGAGTCGGTGGGCAGGGTGGAGCTCGGCACAGGCACAGAGCCACCCTCCCAACGGCGCACCTGCCAGGCCACCGTGCCCCACGAGGACACGTTCTCGGCAGCTGACCTCACGCGCGTTGGAGAATCCACTGCACATCGGGAGGGTGCGGAATCGGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGGGGACGTGGCCCTGCCCAGCCTCCTTCCATCCGGGACATGCAGCCCTTCTCCCCTGTGCCCAGGAAGACCTGGTTTCTGGGGCTCCTTTCAGCCCCAGGGGAGCCAACTTCCATTTTCAGCCAGTGCAGAAAGCCGGAGCCTCCAAGACTGGACTTTGCCAGGCAGAAGGAGACAGCAGGCCCCCCCAAGATGTCTGCCTGCCTGAGCCCAGCAAGCAGCCTGGCCCACAGCTGGATGCCGGGAGTTTAGCAAAGTGCAGCCCCGACCAGGAACTTTCATTTCCTAAGAATAAGGAGGCCGCCAGCTCACAAGAAAGTGAAGACTCCCTGCGGCTGCTTCCCTGTGAACAGAGAGGAGGGTTCCTCCCAGAGCCCGGCACAGCAGACCAGCCCCACCGAGGGGCCCCTGCTCCAGAAGCTTTTGGCAGCCCTGCTGTCCATCTGGCCCCTGACTTGGCATTTCAGGGTGACGGGGCTCCACCTCTGGATGCCACCTGGCCTTTTGGTGCCAGTCCCAGCCATGCTGCCCAGGGACATTCTGCAGGCAGAGCAGGTGGGCACCTCCACCCCACGGCAGGGAGGCCTGGCTTTGAGGGTAATGAGTTTGCACCGGCGGGGGCCTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCTGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTGCAGTGGCCGGACATCAGCTGGGGCTGGAGGCAGATGGACATTGGGGCTTGCTTGGCCAAGCCGAGAAAACCCAGGGCCAAGGCACAGCCAACCAGCTTCAGCCAGAGAACGGGGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATGCCAGTCCCAAAACAGCGCTGACCGGCCCCACCGAGGGTGCAGTCCTGCTAGAGAAATGCAAGGGAAGCAGGGCAGCCATGAGCCTTCAGGAGGAGGCCGAGCCCACCCCAAGCCCCCCGTCCCCTAATAGGGAGTCCCTGGCGCTGGCCTTGACAGCAGCCCACAGCCGAAGTGGATCTGAGGGCCGGACTCCAGAGAGGGCGTCCAGCCCCGGCCTGAACAAGCCACTGCTGGCCACAGGGGATAGCCCAGCACCCTCTGTCGGGGACCTGGCCGCCTGCGCCCCCTCACCCACTTCAGCCGCCCACATGCCCTGCAGCCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGCAGGCAGGGGACTCCCAGGGCCAGACCCCCAGAGCAGGGGAGCCCCGCCCCACACCAACCCTGACAGGATGCCCAGGGGCCACTCCTCGTATTCTCCAAGCAATACTGCCCGCCTCGGCCACAGGGAGGGCCAGGCTGTCACAGCTGTGCCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCCTGCATCTACAGAGAACGGCCAGTGGAAGGGCCAAGCTCCACATGGGCCTGTGACCTGTGAGGTCTGCGCAGCCTCCTTCCGCTCCGGGCCGGGCCTGAGCCGGCACAAGGCCAGGAAGCACCGGCCACACCCGGGAGCCCCCGCGGAGCCGAGCCCAGCGGCCTTGCCTGCTCAGCAGCCTCTAGAGCCCCTAGCCCAAAAGTGCCAGCCGCCCAGGAAGAAAAGCCACAGGGTGTCTGGGAAGGAGAGACCAAATCACTCACGGGGAGACCCCAGCCACGTCACCCAGCCACCGCCTGCCCAGGGCTCAAAGGAGGTTCTCAGAGCACCGGGGTCCCCACACAGCCAGCAGCTGCACCCTCCA
Task1_train_22991
A variant affecting Chromosome 16, within the gene LOC130059719, ZNF469 (ATAC-STARR-seq lymphoblastoid silent region 7848| zinc finger protein 469), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Brittle cornea syndrome 1
GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGACTCCAGCTCCCTCTGCCTCTGCCATGAGGACCCGTGGGAGGACGAGGATCCCGCAGGTCTGCCCGAGTCCTTCCTCCTGGATGGGTTCCTCAATAGCAGGGTGCCTGGCATTGACCCCTGGGCCCCCGGCCTCAGCCTGTGGGCCCTGGAGCCCAGCAGGGAAGCTGGTGCAGAGAAGCTGCCCTCCCACTGCCCCGAGGACGATCGGCCGGAGGCCATTCCTGAGCTGCACATGGTCCCAGCGGCTTGGCGAGGCCTGGAGATGCCGGCCCCTGCCGATGACTCCTCCTCTTCTCTCGGAGATGTGAGCCCCGAGCCCCCCAGCCTGGAGAGAGAACGCTGTGACGGTGGGCTTCCCGGGAACACCCACCTGCTGCCGCTCCGTGCCACGGACTTTGAGGTGCTCAGCACCAAGTTTGAGATGCAAGACCTGTGCTTTCTGGGACCCTTTGAAGACCCCGTGGGTCTCCCCGGCCCCAGCTTCTTAGACTTCGAGGGCACGGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGCAGGGAGGGCCCAAGGCAGAGGCCGGCCGGCCAAGGGCAGGCGGGCCTCCTACAAGTGCAAAGTGTGCTTCCAGCGCTTCCGCAGCCTGGGCGAGCTGGACCTGCACAAGCTGGCCCACACGCCCGCGCCGCCGCCCACCTGCTACATGTGCGTGGAGCGCAGGTTTGGCTCGCGGGAGCTGCTGCGGGGGCACCTGCAGGAGAGGCACGCGCAGAGCAAGGCCGGGCCCTGGGCGTGCGGCATGTGCCTGAAGGAGGTGGCCGACGTCTGGATGTACAACGAGCACCTGCGTGAGCACGCGGTCCGCTTCGCCCGCAGGGGGCAGGCGCGGAGGTCCTTGGGGGACCTGCCCGGAGGCCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGC
GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGACTCCAGCTCCCTCTGCCTCTGCCATGAGGACCCGTGGGAGGACGAGGATCCCGCAGGTCTGCCCGAGTCCTTCCTCCTGGATGGGTTCCTCAATAGCAGGGTGCCTGGCATTGACCCCTGGGCCCCCGGCCTCAGCCTGTGGGCCCTGGAGCCCAGCAGGGAAGCTGGTGCAGAGAAGCTGCCCTCCCACTGCCCCGAGGACGATCGGCCGGAGGCCATTCCTGAGCTGCACATGGTCCCAGCGGCTTGGCGAGGCCTGGAGATGCCGGCCCCTGCCGATGACTCCTCCTCTTCTCTCGGAGATGTGAGCCCCGAGCCCCCCAGCCTGGAGAGAGAACGCTGTGACGGTGGGCTTCCCGGGAACACCCACCTGCTGCCGCTCCGTGCCACGGACTTTGAGGTGCTCAGCACCAAGTTTGAGATGCAAGACCTGTGCTTTCTGGGACCCTTTGAAGACCCCGTGGGTCTCCCCGGCCCCAGCTTCTTAGACTTCGAGGGCACGGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGCAGGGAGGGCCCAAGGCAGAGGCCGGCCGGCCAAGGGCAGGCGGGCCTCCTACAAGTGCAAAGTGTGCTTCCAGCGCTTCCGCAGCCTGGGCGAGCTGGACCTGCACAAGCTGGCCCACACGCCCGCGCCGCCGCCCACCTGCTACATGTGCGTGGAGCGCAGGTTTGGCTCGCGGGAGCTGCTGCGGGGGCACCTGCAGGAGAGGCACGCGCAGAGCAAGGCCGGGCCCTGGGCGTGCGGCATGTGCCTGAAGGAGGTGGCCGACGTCTGGATGTACAACGAGCACCTGCGTGAGCACGCGGTCCGCTTCGCCCGCAGGGGGCAGGCGCGGAGGTCCTTGGGGGACCTGCCCGGAGGCCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTACCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGC
Task1_train_22992
Located on Chromosome 16, this mutation impacts ZNF469 (zinc finger protein 469). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not specified
CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGCCCATCCCCTCAGCCCACACCCCTGCGCCCTGTGGGCACCGACACCACAGAAGCCAATGTTTGGAGATTTGCACAACCTCCCGTTCCCCCACATGGAGAAGGGAAGTAAGTTGAGGCAGCCGTGGGATGGTGGTAGGTTCCCTCTTAGTCTTGCTGCTGTTGCTGGAATTCCAAAGTGACCTTAGAAACCACGTGGGGGAAGGCAGTGCTCACTACTTAGAAGGGTTGCTTCTGAGCCGCCTGGTCCCCCAAGAGCACAACAGGCCTCCTCCCTCTGACCACAGGGTCATGCCTCCTCCCTCTGACCACAGGGTCATGCCAGCCTCCATTTGCTCTGCGGGAGAAAAGCCCATCTCTAGCACACCTTGACCCCAGGAACCGGGTTCCCGTATGGAACTGGGAAGAAACCGCCCCTGTGCCAGCTCCCGCGGGCCCTCCTCGTTCCCTCCCAGCCTCCATGGCCGCCCTCTAGAGCCTCCCTGCTGTACGGAGCTCTGGGCTCCGCCTATTTGCAATGTTACTCTGAAGTTTCTGGTGCTATTTTTGTGTTGTAATGTGAATACAGGCTTCCTTGATTTTTTTTTTTAATGGGGGTATTGGGTGGGACAGACGGGGTCAGGGAGGCCCCACCATGGCTTGTCGAGGGCACGGGCACCTGCATGGCGGCGCTCTCCCTGCCTCCCCTGCCGGGCTGCAAGCCTGAGGTCTGTGCTGCCAGACGGGGATGCTCAGGGCTGGGGCTGCAGAGCCGCTGCCCTGGCCAGGGCACCCTCATGCACCGACCCAACCCAGGCCTGGGACGCACGTGTCCTCTCACAGCGTCGTGCCTGTGAAGGTGGGTCAAAGGGTGAGAGGGCTTCCTTCTCACCCTTCTCTCCATAAGTATCTTGAAGATCCATGGTTTGTTTTGCTCTATTGTTTAGTTTTTACTTGGGTGCAATGTGTACGTCAAAAGTTTTTATTTTGATATTTGAAAGAGACCAAATCAGGCCCAGACCGCCTCTCTGGAAGGTGTTGTAGGCCATTCAAAACGCCTCCGGAGTGTCGCAAACCAAGTGCGGAGGGGCCCTGAGGTTGTACTGTAAACATCATAGTGACTTGTCTTTTCAAATATATTCCCACTATTTTCGCAGAAAACCTCCAGCTGCGTGACGTCTGTCCTCCCGCCGGCCCCCATCCCTGGTCTGCACCTCCCTGAGCCTCAGAACTTGGCTCCCAGGGTGTCTGCGCCAGCTGCCACTCTCGGGCCACCGTGGGCCAAGGGCCCAGCCGGGGCTGCGGGACCTCGTGCAGGACCCAGTGATGCAGCCATGGCTGTGTCCTAAGAACACCCCTTCAGCAGTGGGTGTTCCAGGTTTTCCAGAAAGGGGCAAGCCCACCCCGGCCATCCTCACTGAGGACCTCCCCCGCCCCCAGGAGGAACACACCACCCCTTCAGCAGTGGGGGCTGGCCCAGGTTTTCCAGAAAGGGGCAGGCCCACCCCGGCCATCCTCACTGAGGCCCCCCCTCACCCCCCAGGAGGAACAGACGGGAGGCTGAGGTGCCCTGGCGCCCCTCCCCCACATCAGAAGCAGCCCGGGGGACCCAGGGAGCGATGGG
CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGCAAGCCACCCCGGTGCACGAGGCCTGCAAGGACCCCTCCCGCGACTGCCACCACTGCGGGAAGCGCTTCCCCAAGCCCTTCAAGCTGCAGCGCCACCTGGCGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCACGGGGAGCTGCTGGCACACCTGGGCGGGGCGCACGGGCTGCTGGAGCGGCCGGAGCTGCAGCACACGCCGCTGTATGCCTGCGAGCTCTGCGCCACGGTTATGCGCATCATCAAGAAGTCCTTCGCCTGCAGCTCCTGCAACTACACCTTCGCCAAGAAGGAGCAGTTCGACCGCCACATGAACAAGCACCTCAGGGGGGGGCGGCAGCCCTTCGCGTTCCGCGGCGTGCGGAGGCCGGGAGCGCCGGGACAGAAGGCCCGGGCCCTCGAGGGCACACTGCCCAGCAAACGGCGCAGGGTGGCCATGCCCGGCAGTGCCCCTGGGCCCGGCGAGGACAGGCCTCCTCCCCGGGGAAGCAGCCCCATCCTGAGTGAGGGCTCTCTCCCGGCCCTGCTCCACCTGTGTTCGGAGGTGGCTCCCAGCACCACCAAGGGATGGCCCGAGACCCTAGAGAGGCCTGTAGACCCCGTGACCCACCCGATCAGAGGTTGTGAGCTGCCATCCAACCACCAGGAGTGTCCCCCGCCGTCTCTGTCTCCCTTCCCAGCTGCCTTGGCTGATGGCAGAGGAGACTGCGCGCTGGACGGAGCCCTGGAGAGGCCAGAGAACGAGGCTTCCCCAGGCAGCCCCGGGCCTCTTCTCCAGCAAGCTCTCCCTCTGGGGGCATCTCTGCCGCGGCCGGGAGCCAGAGGCCAAGATGCGGAGGGAAAGAGGGCTCCTCTCGTGTTCTCAGGGAAACGCAGGGCCCCGGGTGCCCGTGGCAGGTGTGCCCCTGACCATTTCCAGGAAGACCACCTACTTCAGAAAGAGAAGGAGGTGTCCTCAAGCCACATGGTGTCTGAGGGGGGGCCCCGAGGCGCCTTCCACAAGGGCAGCGCCACCAAGCCTGCGGGCTGCCAGAGCTCATCAAAGGACAGGTCGGCAGCATCCACCCCCAGCAAAGCACTCAAGTTCCCAGTGCACCCAAGGAAGGCGGTGGGGAGCCTGGCACCCGGGGAGCTGGCCCGTGGCACAGAGAATGGGATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTCGCCCCGGCACCAAGACAGGAGGTGGCAGCCAGCCCCAGCCAGCCAGCGGGCAGCTCCAGAGCGAGACAGCCACCACCCCAGCCAAGCCCAGCTTCCCCAGCCGGAGCCCTGCACCAGAGAGGCTCCCCGCTCGAGCCCAAGCCAAGAGCTGCACCAAGGGGCCAAGGGAAGCTGGTGAGCAGGGGCCCCACGGGAGCCTAGGTCCCAAGGAGAAGGGAGAGAGCAGTACGAAGAGGAAAAAGGGCCAGGTCCCAGGGCCAGCCAGGAGTGAAAGTGTGGGGAGCTTCGGGAGAGCCCCCTCAGCCCCTGACAAGCCCCCCCGGACCCCTCGGAAGCAGGCAACTCCCAGCCGCGTGCTCCCGACCAAGCCCAAGCCCAACAGCCAGAACAAACCCAGGCCGCCACCATCAGAGCAGCGGAAGGCAGAGCCGGGCCACACACAGAGGAAGGACAGACTGGGCAAGGCCTTCCCCCAGGGGAGACTCCTGCTCAGGCCCCCCAAGAGGGGCACAGCTGTCCACGGTGCTGAACCTGCCGAGCCACACACCCACCGGACGGCCGAGGCCCAGAGTGACCTCCTCAGCCAGCTCTTCGGGCAGAGACTAACTGGCTTCAAAATCCCTTTAAAGAAAGATGCTTCCGAGTAATTTCTAGGAGCAAGAGCCTGGGACCGGAGCTGGGCGTTCCTGTCTCGGCCTGCCTCCTTGGCCAGCTCCGGCTCCCTGAGATGGTCCACTCTGTGGCCACTTGACTTCTTGTGCAACTGCTCAGGCCTTGATGTCAGAGCTGAGGTGGTGATGCTTTGAACAGGGCCCAGGTGGGCAGCATTCCCTTTCTTGCTGGAAGGCTGGGGGTGAAAGACGGGGCCACTGCAGCCCTTTTGAGACCACACAGCTGTTTTCTTGGTACCAAGTACTTGAAGAGACAGCAGCCCATCCCCTCAGCCCACACCCCTGCGCCCTGTGGGCACCGACACCACAGAAGCCAATGTTTGGAGATTTGCACAACCTCCCGTTCCCCCACATGGAGAAGGGAAGTAAGTTGAGGCAGCCGTGGGATGGTGGTAGGTTCCCTCTTAGTCTTGCTGCTGTTGCTGGAATTCCAAAGTGACCTTAGAAACCACGTGGGGGAAGGCAGTGCTCACTACTTAGAAGGGTTGCTTCTGAGCCGCCTGGTCCCCCAAGAGCACAACAGGCCTCCTCCCTCTGACCACAGGGTCATGCCTCCTCCCTCTGACCACAGGGTCATGCCAGCCTCCATTTGCTCTGCGGGAGAAAAGCCCATCTCTAGCACACCTTGACCCCAGGAACCGGGTTCCCGTATGGAACTGGGAAGAAACCGCCCCTGTGCCAGCTCCCGCGGGCCCTCCTCGTTCCCTCCCAGCCTCCATGGCCGCCCTCTAGAGCCTCCCTGCTGTACGGAGCTCTGGGCTCCGCCTATTTGCAATGTTACTCTGAAGTTTCTGGTGCTATTTTTGTGTTGTAATGTGAATACAGGCTTCCTTGATTTTTTTTTTTAATGGGGGTATTGGGTGGGACAGACGGGGTCAGGGAGGCCCCACCATGGCTTGTCGAGGGCACGGGCACCTGCATGGCGGCGCTCTCCCTGCCTCCCCTGCCGGGCTGCAAGCCTGAGGTCTGTGCTGCCAGACGGGGATGCTCAGGGCTGGGGCTGCAGAGCCGCTGCCCTGGCCAGGGCACCCTCATGCACCGACCCAACCCAGGCCTGGGACGCACGTGTCCTCTCACAGCGTCGTGCCTGTGAAGGTGGGTCAAAGGGTGAGAGGGCTTCCTTCTCACCCTTCTCTCCATAAGTATCTTGAAGATCCATGGTTTGTTTTGCTCTATTGTTTAGTTTTTACTTGGGTGCAATGTGTACGTCAAAAGTTTTTATTTTGATATTTGAAAGAGACCAAATCAGGCCCAGACCGCCTCTCTGGAAGGTGTTGTAGGCCATTCAAAACGCCTCCGGAGTGTCGCAAACCAAGTGCGGAGGGGCCCTGAGGTTGTACTGTAAACATCATAGTGACTTGTCTTTTCAAATATATTCCCACTATTTTCGCAGAAAACCTCCAGCTGCGTGACGTCTGTCCTCCCGCCGGCCCCCATCCCTGGTCTGCACCTCCCTGAGCCTCAGAACTTGGCTCCCAGGGTGTCTGCGCCAGCTGCCACTCTCGGGCCACCGTGGGCCAAGGGCCCAGCCGGGGCTGCGGGACCTCGTGCAGGACCCAGTGATGCAGCCATGGCTGTGTCCTAAGAACACCCCTTCAGCAGTGGGTGTTCCAGGTTTTCCAGAAAGGGGCAAGCCCACCCCGGCCATCCTCACTGAGGACCTCCCCCGCCCCCAGGAGGAACACACCACCCCTTCAGCAGTGGGGGCTGGCCCAGGTTTTCCAGAAAGGGGCAGGCCCACCCCGGCCATCCTCACTGAGGCCCCCCCTCACCCCCCAGGAGGAACAGACGGGAGGCTGAGGTGCCCTGGCGCCCCTCCCCCACATCAGAAGCAGCCCGGGGGACCCAGGGAGCGATGGG
Task1_train_22993
The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCC
CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCTGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCC
Task1_train_22994
This genomic variant is located on Chromosome 16, within the CYBA (cytochrome b-245 alpha chain) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGCCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTG
ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGGCTGCAGTTCTAAGCAGAGGGTCAGGGAGGCCTCGAAGACCTGAAGGGGAGGAGGAAGGAGCCAGGCAGCCATGCAGGGAACAGCTCCAGGCAGCAGGAAGAGCCCATGCAAAGGCCCTGAGAAGACACATGCTGCGTGTGTCCAAGGGTCAGAGAGTGGCCTGCGTGGCTGATGCCAGGTGAGAGGGGGACCGCAGGGGCAGGGCAGGGCGCTGGGGGTGCAGATCATGTCTGCCCTGGGGCCATCAGAAGCTTGTGGCTGTCACTGGAGGTAGCTGAGCCTGTGGGTTCTGAGCCTGCGGATTCTGAGCCGGAGGCACTGGGGTGAGGCTTTGGGTTTCAATGGCAGCATCAGGATGGTTTCAGGGGATGAGGGCAGAGCGGGAGGCGGCAGGTGGCCTGGGTGGGGATGGCCCATGTAGCTGGGGTCTGGATTTGGGCCAGGATTGGATGTGGGGTGTGGGGGTTTCAAGGGTGACCTGAAGCTTGGTGACCTGGGGGGACGGCTGAGATGAGGCTGGATTGAGACGTCTGTATGGTGCCGAGTGTTGGCTGGTGGGGGGTGGATTCTGAAGGCCCCCAGGAACAGAGGACCCTGGCTCTGAAGTGTGAGTTGCTGGGAGAGCAGGTGGACAAGCAGCAGGCAAGGGCTTCTCCGGCCTCAGGGGAGTGGGTGCCTTGGCGAGAGCCCAAAGGTGGGGGACGTGGCTGACGCCGGGCAAAGCTTTGGGGGCACCGGGCTGGGGTGGTGGTGAGGACCTGTGGGCAGGTGTGTGTGCAGCCAGCCACAGCCTCCGCACAAGTGAGGGGAAGGGGTGGCCAGAAGCCCCTGCAACTTGGCCTGAGCGTCCTGGGCAGCTGGGGGGCCCCCCAGCATCAGTGTGGGGGCAAACAAGGCCACATCCGCCACCAGCTTCACCCCAGCTTCTACGGAAAAGAGGCGCAGGGTAGAGGCTCACCACGTGGCTCCGACCCTGTTCCCTTTTCACTTAACGCCAGCGGCCTCCTCTGGAATCCAAGCCCCTTAGGGAGGCGTTAGGTGTGGAGGGCCTGCAGGGCCTGCAGGAGCTGTCAAGGGAGGACTCTGCTGCCTCCTCCAGGCCCGGGAGGACCTTTCTAGGGAGGCACACACCTGGAATCCAGGTACTATATTTCGTGGAATATACGGTACCCGGGATTTCGTGTGCTGCTGAGAAGGAAGGCGATGCTGATGTTAATGAAACTGGAATGCGGCCCGGCTGGCAGGAAACGGGGTGCCTGCCCAGGCCTCGGGAACCATCGCTACCCCAGCCCCGCCCACCGGCCCCAGGCAGAGGCTCACGCGCTCCCGGCTTCGCTGCATTTATTGCAGGTGGGTGCACCTGGCGGGAGGGCAGGTCCGGGGCGAGGTCACACGACCTCGTCGGTCACCGGGATGGGGTTGACCTGGGGACCTCCCGGGGGTCCCCCCGCCGCCACCGCAGCCTCCTCCTCGCTGGGCTTCTTGCGGGCCTCGGCCGGGGGCCGCGGCGGGGGGTTGCTGGGCGGCTGCTTGATGGTGCCTCCGATCTGCGGCCGCTCCCGGGGCTTGGGCTCGATGGGCGTCCACTGCTCGCCACGCACAGTCGCCTGCGGGGCACTGAAGGGTTGAGCCGCGCCCCAGCGCCCGCCCTCCCTCCCTCCCTCCCTCCCCGGAGGCCCACCCCGCTAGGGGCCCTGGGACAGGCTCAAGTCTGAATCCCACGCAGGATGGTGTGACTGCCACTCAGAGAGGTTAAGTGACGCGCCCGAGGCCACACAGCCAGGACCTGGGTCGGCCTGACACCAGCCCAAGCTATTTCTTCATGCCAGGAGTGGGGCCCGAACCCCTGGGCTTCTGGAAGATCCCGTGGTGGACACTCCCAGATGCAAATTCTAGTACTCAAATTCTCCTCTCAAGGTGCCAAGGGCAGGGAAGGCAGGGAGGCAGGCCCGAGGTCCAGCAGGAGGGGTGGCCCAGGAGAGTAGCAGGCCCTGCTCCGTCTGGTGGGCGCCATTCACCCACGCTGGCCGGCAGCCCCCCAAGGGTGCCCAGGCATTTCTGCACATGGGGGTGGTGGGGGGAGAGCTTGAAGACCACGGGATTCCACTGGCTTTTACTAAAAATACAGACTCCTGGGCCCATGCCCGGAGGTTCCACTGCAACAGGTCAAGTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCATGAAGGCATCCCCAGTGTTTAAAGGTTACAAAGGCTAAATAGCTAAAATATATGTGGACTTCCTGCAACTTAAGAAAAAGACAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGGAGATCCAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACCAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTG
Task1_train_22995
The gene CYBA (cytochrome b-245 alpha chain) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not specified
TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAG
TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGACGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAG
Task1_train_22996
The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCAC
TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGCTGAGCCCGGCAGGGTGAACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCTGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCAC
Task1_train_22997
This variant lies on Chromosome 16 and affects the gene CYBA (cytochrome b-245 alpha chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGGAATCCGCCCGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCC
GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGGGACTTGGCTCTATGGACAAAAGGATTTAAATAAGCAAAGTCTGAGGGCTCTGTCCACCCAGAGACCCCCGCAGTGAGAGGTGGCCTGCAGCCGTCTGTTCCGGAGCCCAGGGCAGGCAGAGGGCATTTCACCCAAGGCCTGGCCAGGCTGCGCCCTGTCCTCCCACCCATCCCTGGCCTCTCAGAGAGATCACTGTATCCCATGGGATGGGCAGCCTTCTAACAGGGTGCAGCAGTCATAAACCAAACGCAGGTGTCGGCAGTTTAAGAAAATGTCTGCGTCCTGGCACCGCCCATGAATCAGCGCGAATAGGGTTTAGGTGAGAAAAGCCTGATAATGGGACCCAAGCGCAGGCACGGTCTTCGGCCGGCTGCGTGACCCCAGGCCAGTCACAGCACCTCCCTGAGCCTCCGCATCTTTGTCTGTAAAGTGGGGACCCCAGTACCCCTCCCAGGGCTGTGGTGCGGGTTAATGAGGAAATGCAAGGAAATGACCCGACACACTAGACACGCCAAAAATGGCAGCAGCAACCGCTGCGTCCCCGCCGTGCTGTGAGCACACGCCCAGGCTCACACTTGCTCCCAGCCTTGGCTCAGCCTACAGAGCCGGCTTCAAGGGCCATGCGTGTCCGAGGGTGTCAGGGCAGGGGCTGGGGATGGGGGTGGCCGGGGCCGACCTCAGAGGGCGCCACTCACCAGTAGGTAGATGCCGCTCGCAATGGCCAGGCAGGCGGTCCCAAGGATGGTGGCCAGCAGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCGGGTGAGAGGCAGGGACACAGAAGGGCACTCAGAAAGGGGAACGGAGCCCCAGGTCTGGGGGCCAAGGCCACAAAGTCTCAGGACAAGGCAGACTGCAGACCCAGGGGACGTGCGCGGACCGGGGCTTGTTTCGGTCCTGGGTGTTCTCAGCCTTGATGTGGACACTAGCGGCTCTGGTGCACTTGCTCGGAGGAAGCAGCCACGTGTGGGTGTCCTGGCCTCAGCCGGCAGTAACCAGCAGACACACAGCACGGAACCCTCCACCCTACCAGGAAGCCCAGGCAAGACCCCCCAGCAGTGCATGCTGACCCCAGACCCTGGCGACGGATCGGAGCTCCTCGGATTTGGAGTGGATCCTTACAAATCCTGCACACTAGACAGCAGACACAGGCCCTGCCAGAGCCAGGGACCCGAATTTTTGTTTGGAAAAACACTGAGGTAAGTGGGGGTGGCTCCTGTCCAGGCAGCCCGGCCGGTGGGACAGTGGGGAGGGTCGGCTCCAAGCCCTCCTGAGCCCTAGAGGGGGTGCGGGACGGGGACTCACAGGAGATGCAGGACGGCCCGAACATAGTAATTCCTGGTAAAGGGCCCGAACAGCTTCACCACGGCGGTCATGTACTTCTGTCCCCTGGGGGAGGGAGGAAGGCGAGACGGCGCGGCTGGGCCTCTCCCACTCGGGACTCCTTTGCTGCCCTGCTGACCACCCCAGGGCACCCAGGCCTCTTTCCTCCCACAAAACACACCGGGCAGGCACCGGCCTTGGTTTACCCACAAGCACCAAAGGGTTGGTTCCGGAGCCTCCAAGTGAGAAACCAAGCTCCACCCAACCCTGTGAGCCCTGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCGGCAGGCACACAAACACGCCCGCCACACTGAAGCCATGTGGTTAAGGAACAGCCCAGCTCAGCCTGAGGGGCCACAGGGAACTCCCTTTACTGAAGACAACACAGAGAGGGGCCCGAGCACGGTGGCTCATGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCGGGAGGATCACTGGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCTCATCTCTACAAAAAATTTAAAAGCCAGGTGCAGTGGTGTGTGCCTGTGGTCCCAGCTACTCCAGAGGCTGAGGTAAGAGGGTGGCCTGAGCCCAGGTGGAGGCTGCCATGAGTCACAGCTGCACCACTGCACTGCAGCCTGGGGGACAGAGCGAGACCCTGTCTCAAAAAAGGTCGGGGGCAGCCACTGCCTGAGGTCACAGAGCCAGGAGGCAGCCACGGGAGGTTCCAACAGGTCTGGCACTCGGGGCTGCCCACGCCCTCCCTCCCACCACCCTGCCCAGTGCTCCTTGTCGCAAGGTCCGGCTGGGCGGCAGGGCTGAGATGGGGCAGAGGAGGTAGAGGGGCCGGTCAAGGGGGATGACTGACAGGAGCGGGCAGAGGGGATCCCAGCAGTCCAACAGGGAGGCCTCAGTGCTGGCCCTGGCCCTCTGGTGACACCCCCTGCCCACCACTCACCAGGACTTAGACTGGCGGGTCTGCCGCTGATCGCCACATGGTCCTGGCGAGGGGCCTGGCTGCTGGGGCCTGGGCTGCCCAACCCGTGCACAGCCCACCCTGTGTCCCAGCCTGGCTGCGGTGGTGGGGAGCGGAGGCAAACAGCTCACTGTGAAGTGGCTCCCCAGCTCTGCCCTGGGCGTTCCCCGCCCACCCCAGCCTCAGGTGGAAGGATACATGGAGTAGGCACCAAAGTACCACTGGGTGAAGCGCCCAGCTGTGGCCACGATGCCCCCGGTGATGAGGACTGCGGGGAGAAGTGGGTCAGGCACTGTGGGGCTCCCGTCCCGGGGGCCTGGGCCACCCCCCTTCTCTACCTACTGTGGGCCACCAGGCCACCCAGAGCTGCCCCCTACCCATCCCCACAGCACAGTGACAGGGTCGGGGACACCCCCAGGAGGCACCCCTCTGCACTGGTGAAGAGCAGAGCCTGTGGCGCACGGGCTGGCGGAGGGGGTGCTGGACATGCCCGGGCTCTGGGTCCCAGGAGTGGCCAAGGACAGCCCGACCTGCAGGCCCCAGTGGGCTCTGGGACCCCCAAATGGACCCCCTTGTCACCATGAGTCTTTGTTTGATGCACTGAAAGCTAACAGGCCGAGTGTGGTTTCTGCATCTTCTTGGGGGAGTGTCTTTTTCCCCCCGATACGGAGTTCCTCTTAACCCGTCAGCGGTTTTGCCTTAATTTCGGTTTCGTCTGATATGGCTATTTCTGCACATTTTTGGGGGGGTATTGTCCAATATTCCCCCTTACTGTTTTTTTTTTTTTTCGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCTACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTACATTTTTATTAGAGACAGGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGGAATCCGCCCGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCC
Task1_train_22998
This gene mutation involves MVD (mevalonate diphosphate decarboxylase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Porokeratosis 7, multiple types
CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAG
CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGCTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAG
Task1_train_22999
The gene MVD (mevalonate diphosphate decarboxylase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Porokeratosis 7, multiple types
GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGAAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAGATGTGCTCTGGGAAGAGACTGAACAACTCCAGAGAGGCCAGGGAGGCCTGGGGTGAGGGGATGCTCTTTTAGCCACGCCCAGCAGTGGGCTCCCTGACCCGGGAAGAGCATGAAGTGGCTCCTGCGCCC
GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTGTGAATGTCCTCAACACCGCAGGATTATATGCTCTCGAATGGCTGAGACAGGAAATTTTAGGTTATGTGGTAAACAGCTATGCCCAGGCTGGACCCACATCTGGCCAAGGGTGCTGCCAAGCCCCATGGGGTAACAGCTCAGGGAAGCGCCCAATTCAAGCTGGTGCGTTCGTCACCGTGTTCTGCAGAACAGCGGAAGCCTGCAAGCCCCACCCGGAGCAGCAGCCACGAGCCTGGTGCTTCCCAGGCGGGCAGTCCTGGGGTGTGGGTCTGAGTCCACCCCACAGGGCAGGCCCCTGACCATTAGAAGGTGTTATTGCTCCCACCCGGGACAGACGCACATCCCCACACGCTTCCAGACACCCTTAAATGGGAGGCGCCTCTCACATTGAGAATAAGACACCATGAAAACACGGGAGGGAAGAAATCAACAGCCCCGGGGCGTAAGGAGGCTGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCACCCCCACAGAGCAGCGCAGGGGAAGAGGCGGTTCAGGGCCAAGCTGTGCACCGAGGAGGGCGTACATGGGGGCTCTGTGGCGCCAAGATGCAGCTGCCGGACCCCACCCAAGAAAAGACACCCAACTGCCGGGGCGGGGTCAACACCCGGCCGCCTTGACTGGCTCTAACTCGCTTCAGTAAGAAGGAAATCAGGGGCTTTGACTCCTTTCCTTCAAAATGTCGGACACTTACGCACACATCTGGGAGTGCAGGCGTGTTTCCTAAGCCACTGTTCTATAGAATAAGAGCCTGCGGGGTCCCGAGCTGCAGGGGACGCTGTCACTCAGGAGGTGGGAGACCCTGGGCGTTGCTCACACACGCGTGAGCGGCCTCTCTTTCTTCCCTGTGGACGTGGGCTGTGGGATGGCTCTATGGGGACACCCTGCCCGTGGCTCCCACACTCGGGGGACTGCTGCCTGCCCTGGGACTCCCTGTCTCAGCGCCACAGCCTTCAGGTGCCTCCGTCTCTTCCGACCAGAGTTCCTGGCACCATCTCCCAAAAAGGAGGAGGGGCGGGGTCCACACTCACGTGTCTCCATTCGAGCCTGGGGGAAAGCCGTGCCACACAGCAGCCACAAACTCAGCCACAGTGTCGTCCAGGGTGAAGATCACGGCATTGGGGCCCGCGTCAAAGGTGTACGCCACCTGGAACCCACAGCAGTCACCCTGGCTATTCACGTGGTGCCTGACCCTTGTCTCCCCAACCCTCTGGTCTGCCAGGCGGCCTTGGGCTCTCCAAGAGCTCAGTCTAGGCCCTCAGGGCCACACTGGAGTGGAGCTGTGACCCCAAGTGCCTGGTACTTGACACGTCTGCCTGTGAACCCAGGAAGAAGGTGGTGGGGCCGTGACCCGGGCAAGTCAAGAAACAAAATGAAACAGAAGAACCCAGATGGTCAGTGAGCTTCGCACACAGCAGGGTGGAGCTTTCAGACACAGATTGCCCTGCACGCGAGCCCCGGGGCCGTCTCCACGGCAGCACAAGCCTAGACACGCGCTACAGCGCGAGCGCAGCCTCTGCCCTCCCGGCCCGCGTCACCTTGGTGTCCCCGTGGTGGGCGTTGAAGCGGTGCACCAGGTGGATGATGCGCCAGGAGATGGCATTGAGGTAAGAGATGGGCGGGAAGGTGTCGAGGCAGGTGGCGTGGAACTGGTTGCTGTCCTTCATGGTCAGCTGGGCGAAGCTGGGGGAGTCTCGCTCCCGGATGCAGCGGGCCATCTCCGCCATGCGCGCGGGCACCACGGACTCGGCCCGGAACTGCAAGGCACAGGGTGTTTCCCATGGAGCCGCTGGGGGTCTCGACAGCAGAGGGTTCGAGGAGAGACTCCGGGGTTGGAGGCCCGGCTCGAGCCCCATCTCTGCATTTGGCTCCTGCACGTGGTCTTGGCGGGGCTGCCGCAGGTGTGAGAACACTCGGGCCCAGACAGAGGCTGAGGGCAGAGCCGGGCACAAGCGTGACTCCCAGGGCCCCGGGACCACCCGCTCCTGGCCTTACCCGAAGCAGGGGGCTGGTCTCCACACTGGCCCGCATGCCCACGGTACTGCCTGTCAGCTTCTTCTCAGCGCTCACCTGCACGAGGGAGAGACAGCCTGGGCCACACCCTGCAGGGGGCCAGCCCCAAGGACCTCAGCCTCAAACACTCGGCCCTCCCTCAGCCAATGCAGGCAGCGGGGGTGGGAGTCAGTGCCACCTGCCTGACCACAGAGGCCTCCCGGCCACAGCAGGGGTGACGCAGGGGCAACTTCCAGATCCCAGCGGGTGGTGGCGCCCGCCGCATGGGAGCGGTTCCTGAGCACTCAACCACGCTTCTGTTCCTTCAGCCCCCGCTGACCCCAGGAGCCAAGCAAAGCCTGGATGGACGCCTTCGCTCCTGCTCCCGGCAGCAGCCCTGACTAGGGACAGAGGCCACCGGGCTGCTGCTCCACCCGCCCCACCCCACTCACCACAAGGATGAGCACGCGGAGTTCAGGCCAGTGTGACTCGGGGGCCACTTGCCGAGCGATGCTGTCCTTCCCGTCGGCCTGCTCTCCCATCTGCCACTCCACAAAGCCCCCATACAGGCTCCGGCAGGCGCTGCCTGAGCCCCGGCGAGCCACTTCTGAGAGGTCACTCTCCACGCCGTAGACACGGGCCAGGGTGTAGGCTGCAGGCATGCGGATTCAGGGAGGGTCCTCAGAGCTGCCTGCGCTGTGCTCCCTGACAGCTCACCGCCCCAGGAACGTCCCACACCCCACGGCAAATGGGGATTTCCAGATGACAGGGCTTCTGGGCCATCAGCCTTTGAGGCCAGCATTCACCGGCCCAGCCGTCTGTCCCCCACCTCCGCTAGTTCCACTCTCGGACACTCTCTGTTCACGGCCTGCAGAGCTTGCGGCCCGCGACAAGGGCAACAAAAGGTACCTGCGGCAGAGCAGGAAGCCCCATGGAAGGCGGGAGAAAGGCCCCCGAGGACACCCAAGCTGGGCTTTGAGGGTGGGAAGGAATTTTAAGGCTGTGTGGGGCAGGGACCGATGCCAGGACAGAGCTGGACTCCACAAGACGCGCCCCCTGCCCACCCAGCACGGGAGCCACCTTCTCCCCTCCTCCCACAGGGCTCCAGCAGGGCAACCCCACCTCCAGGTCTGGTCACCCACCCTGGTCACCGAGGGTGGTTCAGGGAAGGCGCAGGAGCCCAGGTGGGCCAGGAAGCGTCACCCCTGGAGTTGAGGGGTGAAGATGGTGTGAGACCACCACCGGGGGGACAGGCTCTGACAGTGGGTGGGAAGCTGCCAGCAAGTGGCCTGGGGCCAGCAGAGAGCTGGGTCCAGCGGGGCCTGCAACCAGCTGTGCCCATTGGAATCCTCAGTTACGTGAGCCACAAAATCATCGCTATTTTAGGGCTGAGCCAGTTTGAAGTGGTTTCTATCACTGACAATCTAGAGGGGCTCCACATACAGCAACGGGAAGATTTTTTTATTTTTTGTAGAGATGGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTACAGTGCTTCTCCCCCATCAGCCTCTTAAGTACTGGGATTACAGGCGAGAGCCCCACGCCAGCTGCAACTGGAAGATGAAAATGTTCAGATGTGCTCTGGGAAGAGACTGAACAACTCCAGAGAGGCCAGGGAGGCCTGGGGTGAGGGGATGCTCTTTTAGCCACGCCCAGCAGTGGGCTCCCTGACCCGGGAAGAGCATGAAGTGGCTCCTGCGCCC