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_23000
Gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
Task1_train_23001
This variant impacts the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Lymphatic malformation 6
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
Task1_train_23002
The gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
Task1_train_23003
The following genetic variant occurs in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Blood group, ER
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
Task1_train_23004
Located on Chromosome 16, this mutation impacts PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Non-immune hydrops fetalis
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGTGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACT
Task1_train_23005
This sequence variant lies in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Lymphatic malformation 6
ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCT
ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGTGGGTGTGTGTGGGTGTGTGCGGGGGGTGCGCGGGTGTGTGCTGTGCGCGGGTGTGTGCGGGTGGTGAGCTCACCACTCGTGCTCAGGCCAGGGCTTAGGGTGGAGCCCCAGCCCGTGTGATTCACCTGCTCCTCCCACAATCCGGCCACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGCCCCCGCTGCCTCCTCTGCATGTGTGCCCTGGACGTCGACGCCGCTGGTCTGTGTTTCATGCTCTTGGGGTGATGCGGGGAGGGAGCCAGGGAGTGGGTGTGGGGGCTCAGCAGCCCCAGGCTCCGTCACCCCCTCTCTGCTTGCAGACAGTGCCACGGCTTTTGGGGCTCAGACCTCCTCGCGTCTCTCCCAGATGCAGTCACCCATCCCCCTGACTGAGACCCGGACACCCCCGGGGCCCTGCTGTTCTCCAGGGGTGGGCTGGGCCCAGCGCTGTGGCCAGGGGGCCTGCAGGAGGTGAGTCCCTGTCCCTGCCACCCATGGCCAGCTGCATGGGGCGGGAGGGGGACCTGTCCTTACCCCACACTGCACGGCATTGAGGTGCCAAGGTGGGCACACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCAGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCT
Task1_train_23006
Consider this mutation in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
CACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAA
CACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCCTGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAA
Task1_train_23007
Given this context: Chromosome 16, gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; PIEZO1-related disorder
GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGAAGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
Task1_train_23008
This variant lies on Chromosome 16 and affects the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Lymphatic malformation 6
GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGACGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCCTTCTCTGACAGCAGCATCAGGGCTCAGGCAGGCCGGGAGGATGCATCACAGCTGGCGGCCTTGGACGGGGCAGTGGCTCCCCCGGCCTGAGGAGTGCCGCCCCTTGTGGCCACGCTGCCCAGCAGGCCGGCTCCTTCCCTCTCGGGCGCCAGCAGCAGCTCCTACTCCTTCTCACGAGTCCACTTGATCATGGTCTCCGGTGAGCGGTAGAGGAAGATGAGCTTGGCGTACAACTCCTCCTCCAGCTCCAGCTCCCGAGTCTCCCGCACCAGGAAGATGTCCTGGCAGAGCTTGAGGATGCGGTCCACGCACGGCAGCTCCTCGAACATAATGGAGTGCGAGATCTCGCTGAAGAATCCGCGCACGAACTTGCCGATGACCAGCACGATGGACACGTACAGCCCCATGATGCTGCGGGGGAAGCTGGTGAGTCCTGGGGCCGCCCGGAGCCCCCCGAGCTGCGGGGTGCCCCCCCAGCCACTCACTCACCCGTAGCCAGCCAGGAAGCCGAGGCTCGGTGGGCTGACCTTGTCACTGAAAATGACCATGGGCAGCAGGTTGCAGTCGGTCCGGCACTCCTGCAGCTCGATGACCCACCATTCGAGGAAGCCGGTGGCCCCCGCACCCTGCTCCCTCCGCAGCTGGATACGCACGCCGAGGTAGTCGGCCTCCTCATCTGGGATGGAGGGAGAAGATCGTTGAGGCCGCAGGTCACCCCTCTCTAGCCTCCCCCAACCCCCACGCCCATACTCACTGGGCTGCAGCTGCTTCACAGGGTTGGCTTCGGGCCCGTTGGGGGCACGGATGTACTTGGGGAAGAGATTAGGGATGACCCTGCAGGGAGGTGCTGGCAGGTCAGGCCTGGCCCAGCCAACCTGGCACAGCCCTCCTGCCCACCACCCGGGCCCTTCACTCACACAGACTGGTCCGAGGTGCCCTCGAGCAGGCTGGCCAGCTGCCGCCGTGCAGTGCTGTTGGGGGCCAGGGCCAGCATGTGCTTCTCGTTGGCATACTCCACAGTGCCTCCCTTCGCCAGGTCCCTGGGGGTGGGAACACAGCGTGACCCACTGTAGTGGGTCCACCCACCCAGGCACTGCCCCAAGTCCAGGACGAACCTCTGGAAGTTCCAGGTGAAGCGCAGGGTGATGTCGGCCGTGCCGTTGTAGAGCTCCCGCTTCATCTGGGCACGGCTGGGGGGACTGATGCGCCACAGCGCCCCGGAGCTGCCCTCAATCTGCGCCGTGACGATGTCCTCAGGGCTGTACTGGCTGATGAACTGCATGGCCAGCTGGGTACAAGTGACACCCTCAGTGACTGCAGCCGCCTCCCCACACCAGCTTTCACAGGGCAGAGGCCACTTACCGGCTGGGGGTCAAACTGCCGGGACAGCTCCTCATAGGCCTGGGCCGTGAAGGGGATGATGGACGGCTGCTGGGCGCTCATGGTGAACAGCGGCTGGGGCAGGCACGGGGACACGGGGCCACGAAGATGAGCGTGGAGGAGCGGCTGGGGGTGGTGCACCACCTTGGCCAGAACCCCCAGGGGATGGGAATGGACAGGCGGACCCACACATGCTCACCTCATAGCCGCCCAGCTTCAGGGTGACGGTGACATCGATGGGCTGGTTGACAACCCCAACCACGGAGCGCACCAGCGACATGAAGAGCAGTGGGAACCAGATGATGGCGATGAGGAAGAGGATGATGAGGCCACCCATGCCGTACTTGAAGATCTTCTTCTTCTTCTGCCCTTTGGGCTGCGGGTATTTCTGGAGGGGAACGACACAGGTCATACGCTCAGCTCTGCCCTTCCTGCGGGTCACACAACCGCATTCTCCAGCTCACCCAGCAGCCCAGAAAAGCCCCAGCCTGACCTCAGTATGGCACAGCGGTAGTAATGGTGGGCAGACACAGGCCAGTGGAGTAGAACTAAGAGTCCAGTTGGAACCCTCATGTTCAGGGGTCGTTGATCTTAGACAAGGGAGCTGTGACCGTTCAGTGGGAACGGACAACCTTTTTCAACACGGTGCAGGCACCGCCCCAGGCAGGAGAATGAAACGCAACTCCTGCCTCATACCATGTGCCAAAATTTACCTCAAAGTGGATCAAAGAGCGAAACTTCAGAGCTAAAACTATAGAACTTTTAGAAGAAAACGGGCAAATCTTCATGAACCTGGATTTGGCGAAGGAAACAAAGTAAACCAGATATTACCAAAATAAATACTTTGTGCTTCCAAAGACACCAAGAAAATTTAAGAGACAGTCCATAGAATTGGAGAAATTTTCTGCAAATTTTAATTGATAAGGTTCTAGCAACCAGAGAATACAGAGAATTCTTCCAATTCAGTCATTTCTAGCCAATGTATCTGCAGAAAAACAGAAAAAACTCTAATAAAAAACAACCCAACTGCTGGGTGTGGCGGCTCACACTTGTCATCCCAGCACTTTGAGGTCAGGAGTTTGAGACGAACCTGGCCAAAAATACAAAAGACTAGCCAGGCCTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGTGAAGGTCATGCCACTGCACTTCAGCCTGAGATCCTATCTCAAAAGCCCAACTAAACTATGGAGAAAGGATTTGAATAGACATTTCCCCAGAGAAGATACACAAATGGCCAAGCACATGAAAAGACGCTCAGCGTCGGTCAACAGGGAACTGAGAAGAGCCCACAGCAAGCCACCCGTTCAGCAGCATGGCCAGAACAAAAAAGACATAGTAACAGGTTGTTGAGGATGTGGAGAAACCGCAACCTCGTGTTGGTGGTGGGAACCTTAGATGGTGGAGCTGCTATGGAAAACCAGCAGCTCCTCATGATGGAAACCACCACCAGCACTTCCGGCCCTGGCGTGCAGCCACAGGACCAGGGGCACGGGCACACAGACGTGTACACCGGCGTGCCTGGCAGCATCACGGGCAACAGCCCATCAACAGATGAGCATGTTGTGGTCCATCCATGCCACAGAATATCATTTGCCCATAAACAGGAAGGCCATACTGCCACGTGGGTGGACCTCAGAGACACCATGCTGAGCAAGGAAAGCTGATTACAAAAGGACAAACGCTGTCTGAGCCTGTTTTCATGAAATATCCACTGTAGGCAAATCTCATAGAACCAGGACCTAGACAAGGGGTTACTAGGGGCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCTTCTTTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCAGGCTTAATGCAGCCCTGTACTCCTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGAGCACAAGTGTGCACCATCACACCCAGCTAACGTTTATTTTTTTGTAGAGAGAGTCTCACTCACTATGTTGCCCAGGCTGGTCTTAAAACTCCTGGCCTCAACTGATCCTCCTCCTTTGGCCTCCCAAAGTGCTGGGACCATAGGCATGAGCTGCCATTGCCAGCTAATTGTTTTATTTTTACATTTGCTGAGGCAGGGTCTCGCTTGTGGCCGTGCAGATCTTGAACTCCTGGCCTTGAGCAGTACCTCCCTCCTGGGTCTCTTACAGTGCTGGGATGATAGGGGTGAGCCGCTGTGCCCGGCCCGGGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTA
Task1_train_23009
This variant affects the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCAGGCCCTGGGGGCATCTGACACCCTCTATGCTGCCCTGGTCCAGGACCACAAGCTCTGTGGTTGGAGTGGGGCCGACGGGGCTCTCCCACCTCACCTGGAAGGCACTCTGTGCCGACGGCCTCGGGTCTTCAGGAACAGCCTCCTCCTCTTCCTCACTGTCGGACTCAAACAGGAAGTAGTCCCCGGAGTGGATGACTGTGGGCAGGCAGCACTGAGAGCCAGCCTTCCATGCAGGGAGACTCCCAGCCAGACCCCCTCCGCCTGCATGGGCCAAGGCCCGAGAGCCACCCTTCCCATGCGGAGTAGCCGGGAGCAGTGCAGGCACAAGACACAGGCCAGCGCGGTGGGACAAGACAGAGGTGGGCAGGGCAGCTGAGGAGCAGAGCCAGCGCGGGCTGGGGTGCAGAGTGGGCCGACTGCAGAGGACCGGGGAAAACCCAGGAGGCTGTGTGAGAGTTAGAAAAACAGAACAGGCCGGGCACGGTGGCTGACGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCGGGCGGATCACCTGAAGTCAGAGGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCTTTGAACCTGGGAGGTGGGGGTTGTAGTGAGCCGCAATCACGCCATTGCACTGTAGCCTGGGCGACAGGGCAAGACACCGTCTCCAAAAAAAAAAAAAAAAGGCCTGGAGTGGGGCACATGCTTGTAGTCTCAGTTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAGATAGCAGGCCAGGCAGAGGACAGATGGGGGCACAGAGGGCCTGAGAGGGTGGCCACAGGCGGCCTAATTGGGGGTACCTGTGGCGTGGTCCAGCCAGGGCCGCCACCACTGCCTCCGTGGCGGGGAGGAGCCCCCTGGACTGTCGGGCCCTGTGGAGGGGCAGGGTGAGCATGAGGCAGCAGTCAAGCCACCAGGAGGGGTCGGGGCTGTGAGTGCTCCCGTCTTGGAGACAGGATAGGTGGAGACAGACACGGACACCCACAGTGACGGGGGCCGTGTGGGGCCATGGGGCTCAGAGCCCATGTGCGTGGACGGACAGTCACAGGGCGGCCATGGGGCCTGCCAGACAGAGGGTGATCATGCGGACAGGACAGGCGGGCTGGGAGCCCTGTGGGACGTCACATGGGCACAGACGCAGCACACGCCAGCAGGCACAGACATGCTGGACACGGGGCCCTGGGTGCCCGACTCCAGCTGCACTCACCTGGCTCCAGGCCGGGGTCCTTGGGGCCCAGGGTGTCCTGGGGGCGACTGCGGTCCACCCGGCCCTGCCTGTGCTTCTCCTGCTTGGCACGGATACGCTCCATCCTGTGGTGGGGAAAGGTGGGGTATGCTGAGCATTGGGGGGAGGAGCCGGGGAGTCCCCGCCCCAGAGGCACCTACTGTCTTTTCAGCTGGGCCAGGGACTTCTCCTCTATCCTGCGGTGAAAGTCAATGCTCTTGAGGTTGGCAGCGTTGTAGAGGGCGAAGCCCCTGTAGGGAGGCGGGGATGGGGTGTGAGCACCAGGCACTCGACCCCAGCAACATGGGCAGCCGCCGCTCCCCGCTCAGCCCGGGACAGCTCAGCCTGCTCCTCTCTGCCCACGCTGGACAAGAGGCACCCACGGGGGAGGCATCTGCTGCCCCCACCCTCCGTGCTGTCTGCGGCGAGGACAGGCCCTTCTGCCGTACAGATGCAGGGGCGTCTGGTGGCACCCACCCCACCACAGCTGCAGGGAAGAAGGCAAAGCTGGCCCCAAGCCAGAACCCCTCCCTGGGGCAGTCGTGACACCACACAGTGGCCCTCCCGCTGGTGGAGAAACTTAGCCCTTAGTGGGAAAGTTGGCTGGGGGTGAGACACCAGCCACCGTCAGCACTGCAGCCTGTGGTCTCTGACAGACCCAGCACTGGGGCAGAGTGTGATGGTGCCGGGGATCTGCCGGCCTTCATTCTCCCTCTAGATGACACGCCCATGTCACAGAGTGGCAGAGCCTGCCCTCCACGGGCCGGGGCCTGAGACAGTGAGGAACCTCCCATTGCCCCCTCCCAGCCCCAAGACGGGAGCTCTGGGCTGTGTCTGGGCCCAAGCTTGCCTGGAGGCTAGCAGGGCGGTGGCCTGGAGGTCGGCCCTGACGTGCAGGTAGTAATGGCTAAGGAAGACGCGGCGCTGCAGCAGCAGGAAGAAGAAGCAGACGCTGTCCCAGATGATGCCAGCCTCCTCCACAGGCAGCAGGCAGTCCTGGTCTCTGTCCATCATCTCCTTGGCTGCAAGGCAGGCACCGGCAAGGGTCAGGCCCAGGGCCCAGGAGCAGGGGGCTTCCCCACGCCCTCCCCCGCCACCGTCCTGGCCACTCACGGTCATAGTAGCCCTTGACGGTGCATACAAGGCTGAAGAGCTGGATGACCCAGCAGAAGCCGGTCTGCATCTGCTCCACGAAGACGCAGGCCAGGAGCTGGGGGAGAGCAGGGTCAGCGGGGCCAGCGGGGCCCCAGGGCGGTGGGTGCGGGGGGGCCGGAGGCTCACCGACAGCATGTTCTTGGAGATGATGACGGTGACGTTGTACAGAATGAGGCAGTCCCACAGCACGAGGCGGGCCCGTGTGTCCCTCTGCAGCAGGGCCGTGCCGAAGAGCAGCAGGTAGAAGCAGGCCAGCAGGTAGCCCAGCCCGAAGATGCTGATGCGGGTGGCCCCCGTGACAAACACCACCACCAGCACCAGCCAGAACAGGTATCGGAAGACGGCCACCTTCAGCATGTCAAGGTAGGACCTGCCAGGCCGGAGCGTCAGGGCGGGCGCCCCGGCCACCCCTCCCAGAAGGTTCCCCGTGGAGGGTGACGTGGAACCCACCTGCAGTGGATAAAGTTGGGCACGGGGTTGGGCTCCCCCCGCAGCGGCTCCAGGCGGTCGGTGTTGACGCCAGCCATGCGCTGCCACTCCTCTGTGCGCTCAGCTGAGAACACCTGCCACTGCTGGGAGGCGCACAGCAGCAGGAGAAAGTCGCCTGCAGGACACAGGAGCCGCCGCTGTGCCACACGGGGACCCACACGAGGTGGGCACGGCGCATAAATCCCACCTCCCACCCCAGGCCTGTCGGCGTGCAGCCGCTGGGAGCGGACACACGTCTGCCTGGGTGAGTGGCCGGGTGTCCCTGGGGGAGCCCCGGTGTGAGGGCATCTGCACAAGGGCTGCCGTGCACACAGGCTGAGGTCTGCGTGCGTGCGTGCGAGGTCAGGGCCTGCAGGCCGCCATGTGCCTGACCACACCTCCGCCCGTGCACGCCTGTGTGCACACTTGTGAGCAGATTTGGGGGCGTGAATGTACTCTGAGGGTCCTCTGCAGAGGCGGGGGTGGTGGGGGGCAC
CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCAGGCCCTGGGGGCATCTGACACCCTCTATGCTGCCCTGGTCCAGGACCACAAGCTCTGTGGTTGGAGTGGGGCCGACGGGGCTCTCCCACCTCACCTGGAAGGCACTCTGTGCCGACGGCCTCGGGTCTTCAGGAACAGCCTCCTCCTCTTCCTCACTGTCGGACTCAAACAGGAAGTAGTCCCCGGAGTGGATGACTGTGGGCAGGCAGCACTGAGAGCCAGCCTTCCATGCAGGGAGACTCCCAGCCAGACCCCCTCCGCCTGCATGGGCCAAGGCCCGAGAGCCACCCTTCCCATGCGGAGTAGCCGGGAGCAGTGCAGGCACAAGACACAGGCCAGCGCGGTGGGACAAGACAGAGGTGGGCAGGGCAGCTGAGGAGCAGAGCCAGCGCGGGCTGGGGTGCAGAGTGGGCCGACTGCAGAGGACCGGGGAAAACCCAGGAGGCTGTGTGAGAGTTAGAAAAACAGAACAGGCCGGGCACGGTGGCTGACGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCGGGCGGATCACCTGAAGTCAGAGGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCTTTGAACCTGGGAGGTGGGGGTTGTAGTGAGCCGCAATCACGCCATTGCACTGTAGCCTGGGCGACAGGGCAAGACACCGTCTCCAAAAAAAAAAAAAAAAGGCCTGGAGTGGGGCACATGCTTGTAGTCTCAGTTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAGATAGCAGGCCAGGCAGAGGACAGATGGGGGCACAGAGGGCCTGAGAGGGTGGCCACAGGCGGCCTAATTGGGGGTACCTGTGGCGTGGTCCAGCCAGGGCCGCCACCACTGCCTCCGTGGCGGGGAGGAGCCCCCTGGACTGTCGGGCCCTGTGGAGGGGCAGGGTGAGCATGAGGCAGCAGTCAAGCCACCAGGAGGGGTCGGGGCTGTGAGTGCTCCCGTCTTGGAGACAGGATAGGTGGAGACAGACACGGACACCCACAGTGACGGGGGCCGTGTGGGGCCATGGGGCTCAGAGCCCATGTGCGTGGACGGACAGTCACAGGGCGGCCATGGGGCCTGCCAGACAGAGGGTGATCATGCGGACAGGACAGGCGGGCTGGGAGCCCTGTGGGACGTCACATGGGCACAGACGCAGCACACGCCAGCAGGCACAGACATGCTGGACACGGGGCCCTGGGTGCCCGACTCCAGCTGCACTCACCTGGCTCCAGGCCGGGGTCCTTGGGGCCCAGGGTGTCCTGGGGGCGACTGCGGTCCACCCGGCCCTGCCTGTGCTTCTCCTGCTTGGCAGGGATACGCTCCATCCTGTGGTGGGGAAAGGTGGGGTATGCTGAGCATTGGGGGGAGGAGCCGGGGAGTCCCCGCCCCAGAGGCACCTACTGTCTTTTCAGCTGGGCCAGGGACTTCTCCTCTATCCTGCGGTGAAAGTCAATGCTCTTGAGGTTGGCAGCGTTGTAGAGGGCGAAGCCCCTGTAGGGAGGCGGGGATGGGGTGTGAGCACCAGGCACTCGACCCCAGCAACATGGGCAGCCGCCGCTCCCCGCTCAGCCCGGGACAGCTCAGCCTGCTCCTCTCTGCCCACGCTGGACAAGAGGCACCCACGGGGGAGGCATCTGCTGCCCCCACCCTCCGTGCTGTCTGCGGCGAGGACAGGCCCTTCTGCCGTACAGATGCAGGGGCGTCTGGTGGCACCCACCCCACCACAGCTGCAGGGAAGAAGGCAAAGCTGGCCCCAAGCCAGAACCCCTCCCTGGGGCAGTCGTGACACCACACAGTGGCCCTCCCGCTGGTGGAGAAACTTAGCCCTTAGTGGGAAAGTTGGCTGGGGGTGAGACACCAGCCACCGTCAGCACTGCAGCCTGTGGTCTCTGACAGACCCAGCACTGGGGCAGAGTGTGATGGTGCCGGGGATCTGCCGGCCTTCATTCTCCCTCTAGATGACACGCCCATGTCACAGAGTGGCAGAGCCTGCCCTCCACGGGCCGGGGCCTGAGACAGTGAGGAACCTCCCATTGCCCCCTCCCAGCCCCAAGACGGGAGCTCTGGGCTGTGTCTGGGCCCAAGCTTGCCTGGAGGCTAGCAGGGCGGTGGCCTGGAGGTCGGCCCTGACGTGCAGGTAGTAATGGCTAAGGAAGACGCGGCGCTGCAGCAGCAGGAAGAAGAAGCAGACGCTGTCCCAGATGATGCCAGCCTCCTCCACAGGCAGCAGGCAGTCCTGGTCTCTGTCCATCATCTCCTTGGCTGCAAGGCAGGCACCGGCAAGGGTCAGGCCCAGGGCCCAGGAGCAGGGGGCTTCCCCACGCCCTCCCCCGCCACCGTCCTGGCCACTCACGGTCATAGTAGCCCTTGACGGTGCATACAAGGCTGAAGAGCTGGATGACCCAGCAGAAGCCGGTCTGCATCTGCTCCACGAAGACGCAGGCCAGGAGCTGGGGGAGAGCAGGGTCAGCGGGGCCAGCGGGGCCCCAGGGCGGTGGGTGCGGGGGGGCCGGAGGCTCACCGACAGCATGTTCTTGGAGATGATGACGGTGACGTTGTACAGAATGAGGCAGTCCCACAGCACGAGGCGGGCCCGTGTGTCCCTCTGCAGCAGGGCCGTGCCGAAGAGCAGCAGGTAGAAGCAGGCCAGCAGGTAGCCCAGCCCGAAGATGCTGATGCGGGTGGCCCCCGTGACAAACACCACCACCAGCACCAGCCAGAACAGGTATCGGAAGACGGCCACCTTCAGCATGTCAAGGTAGGACCTGCCAGGCCGGAGCGTCAGGGCGGGCGCCCCGGCCACCCCTCCCAGAAGGTTCCCCGTGGAGGGTGACGTGGAACCCACCTGCAGTGGATAAAGTTGGGCACGGGGTTGGGCTCCCCCCGCAGCGGCTCCAGGCGGTCGGTGTTGACGCCAGCCATGCGCTGCCACTCCTCTGTGCGCTCAGCTGAGAACACCTGCCACTGCTGGGAGGCGCACAGCAGCAGGAGAAAGTCGCCTGCAGGACACAGGAGCCGCCGCTGTGCCACACGGGGACCCACACGAGGTGGGCACGGCGCATAAATCCCACCTCCCACCCCAGGCCTGTCGGCGTGCAGCCGCTGGGAGCGGACACACGTCTGCCTGGGTGAGTGGCCGGGTGTCCCTGGGGGAGCCCCGGTGTGAGGGCATCTGCACAAGGGCTGCCGTGCACACAGGCTGAGGTCTGCGTGCGTGCGTGCGAGGTCAGGGCCTGCAGGCCGCCATGTGCCTGACCACACCTCCGCCCGTGCACGCCTGTGTGCACACTTGTGAGCAGATTTGGGGGCGTGAATGTACTCTGAGGGTCCTCTGCAGAGGCGGGGGTGGTGGGGGGCAC
Task1_train_23010
Given a variant located on Chromosome 16 and affecting CDT1 (chromatin licensing and DNA replication factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Meier-Gorlin syndrome 4
GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCTGGCCGCCTCCACCCGCGTCCCCTTCCCTCGCAGGCCTCCAGGCCCCGGCGGCCCGCATTGCTTTGCGGGGGACTTCCGCAGCGCTGCGCCTGGCCCTGCTTATTGGCGTCTCTGGAAGGAGTGGCTGTGGCTCGGGCTCTCCAGATAAACCGCGCTCTAGGCCGTTTCCCAGATAGGAGCGCTATAGGTTTTAAGAACTAAAACTTTAAAATCTCAGCCCTCAGCCATGCTAAAGGCAGTTTCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCTCGCTCTTTCGCTCAGGCTGAAGTGCAGTGGCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGC
GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCTGGCCGCCTCCACCCGCGTCCCCTTCCCTCGCAGGCCTCCAGGCCCCGGCGGCCCGCATTGCTTTGCGGGGGACTTCCGCAGCGCTGCGCCTGGCCCTGCTTATTGGCGTCTCTGGAAGGAGTGGCTGTGGCTCGGGCTCTCCAGATAAACCGCGCTCTAGGCCGTTTCCCAGATAGGAGCGCTATAGGTTTTAAGAACTAAAACTTTAAAATCTCAGCCCTCAGCCATGCTAAAGGCAGTTTCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCTCGCTCTTTCGCTCAGGCTGAAGTGCAGTGGCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGACCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGC
Task1_train_23011
The gene CDT1 (chromatin licensing and DNA replication factor 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Meier-Gorlin syndrome 4
GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAGGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGCAGATCTTCAGCCAGAAGCTGGTGGAGCATGTCAAGGAGCACCACAAGGTGAGCGGCCCCCGGCCCCGCTGTGTGAAGATGGTGGCACCAGCACTGCCTCAGCACCTAACCCTGTGCTTGGAGCATCCCTGCCACTCACAGCTTCTCCCGGGATGGAACTGGGCTGGGTTCACCCTGAGCTGAGGGCTGGTGTGCTCAGGGTGCAGCCGCAGGCACTGAGGAGGTCCCCAAGGCGTTCAGCGAGCGCGGACCATGGGAGGCCTTGTGCTCTCCCTCCAAGCTGAGCACTGGGCAGAGGCTGAGTGACTTGCCCGAGGCGGCCCGGCTGGGACGTAAGCACAGGCCTACCTCACATGCAGTCTGCCCTTGTCTCAGATGTGCCCAGGGTCACCCATCTACTCCTTCTCCCCAGGCCTTCCTGGCCTCCCTGAGCCCCGCCATGGTGGTGCCGGAGGACCAGCTGACCCGCTGGCACCCGCGCTTCAACGTGGATGAAGTACCCGACATCGAGCCGGCCGCGCTGCCCCAGCCACCCGCCACGGAGAAGCTCACCACTGCTCAGGAGGTGCTGGCCCGGGCCCGCAACCTGATTTCACCCAGGGTGAGACTGCGAGGCTTGGGCAGCCCATTTCTCCCGGGTG
GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCACGCCTGTGATCGCAGCGCTTTGGGAGGGGGCAGTTCCAAGAGAGCGGATCACTGAACCGGGGAGTTCGAGACCACCCGGCAACGTAATCTCCGCCTCGATAGAAATAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCACGGGGTTCACGCCATTCTCAGGCCTCAGCCTTTTGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGAAATAGTTTTAAAAAAAGAAATAAGGAGCGTGCGGCCCGCGGGGGAAGCGCCTTTACCAGCTCGAGCCTGCAGCCCCCCAGGCCGCGCCGTCCTCGGCTCCCCCGGGCAGCGCCGGGGTTTTGTCAGGCGCGCGCTGCTGTTTGCCTGGATTGCGCTCATTCTGACCCTGAAGCCAGCGGCCCCACTGACACGCCCTGAAAAGTGGGAGCCACACGCGGGATCCGGAGACCGCGCTAAAGTCCCACGCACGACGGCGCCCGCCGGCGAGTCCACGCCCGCACGTCGGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGCGCGCATGCGCGCCCCGTCCCTTCCCTCCCCCCGTGCTCTGCCCCGATGGTTCGGTCCGCGCCGGGGGCGGGGCCAGGGCGCCCGCGGGAAATTTGGCGGGAACCGCGCCCGCCTCTTCCTCCCTTCCTTCTTTCCTTGCTTTCGCCGCGCACTCCGCCGCCATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATCGCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCGGCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAGGTGAGGGGCGTGGGGAGACTGAGGCCGGGGAGTTGGGGGCGGGGAGACTGAGGCCCGGGGGGCAGGGCTCGGGGAAACTGAGGCGGAGGGACGGGGGCGGGGAAACAGGCGGGGGGGACGGGGCGCAGGGAACTCTGGGACAGGCCGGGGGATCCTGGGGGCGCCCTGCCACCACTGGGGACTTGGCTGGCTCCTGAGATGAGCAGGAGGCACTGGGGGGCTTGCACCGGGATCCGATGATGGGGCTGGAAGTCCAGCTTCTCTGCGAGGCCAGGGCAGGGGTCCGACCTGGAAACGGCCCCGGAAGACGAGAGCAAGGCTGTGTCCCCGGCCTTAGCACAGACCACCATCTACGGGAAGTCCTAAGCCCCCCAGCCATGCCCGTCCCAGTTAACTCAGAGCGGCTTCTGATCCTTCGGGGTCCTCTGCAGAGCCAGGAGCACCAGGTCTTGTCATGAGTTCACCCTTGGGGTCCCTCCCACCAGGTTTCCAGCCCCAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAATCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCACGTGAGGGGCGGGGCCTGGGGCAGATGCGGGAGGGCTGAGTGGTGCCGGCCTGCCTGCCTGCCTGACGGCACCGTGTCCCCTGATCCCCCTGAAGGACACCATCTCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTGAAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAGGAGCCATGGTGAGTGCTGGGTGGGCGGCCACGAGGCCCCGGCAAAGGCCGGGTTGGTGGCAGGCGTGGCCCAGCGAGCCTGTCAGAGGCCCAGGTCTGCTCCTTCCAGGGAGGGTGGTGGTGAGGTCACCAGGGCGCGGACCCAGACCCCTGAGAAAAAGGTCCCGGGCACTGCTGGCGCTGTGCCCTCAGTCCCTCCTGCGGGGGGCAGCTCCTGCCTCGGGGACTCTGGCAGGTTTCAAATGCTCCTGATGCATTGGTGTGTTGTCTGCCTCTGCCCCTGAGAGCTGACGAAACTGCGCTGGGGAGAGGGCAGAGCTTCCCTGGGGGAGCTGCGTGGACACAGCAGAGCTGGGGTGTGGAGCCGGGCTTTCCCGTCACCACTGCTACCCCTAACGGTGCCAGTGCTGGTGGGTGTGCAAGGGCCGCGAAAGCCATCGTGTGTGGCATGGCAGGCCCCATCGGAGGGTCTCCCTGGCCGAGGGGCCTGCTGTGGCGTTGGAGGGGTAGGGGCCTACTGCTTCTCATGAGGCTCCTCCCTCCCTGACAGTGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGCCTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATGGACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAGCGGGGCGTCCAGGACATGATGCGTAGGTGAGTGGCCGGGGGTGGGCTGTGGCTGTCCTGGAGTTGGGGGTGGGCCCGGGCCTGCCTCCTGAGCCGCCCCCATCCTCCCATAGGCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAAACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGATGGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCCCATCTGTGAGCCGCACAGTTTCCAGGGTGGGTGTGAGGTGCTGGGCATCTGGCCCAGGACTGGTCACGGGTGGGTGGCTGGGTGGCCTGGTGGGGACTTAGGCCTGGACTCGTCCCACAGAGGCTGACGGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGCAGATCTTCAGCCAGAAGCTGGTGGAGCATGTCAAGGAGCACCACAAGGTGAGCGGCCCCCGGCCCCGCTGTGTGAAGATGGTGGCACCAGCACTGCCTCAGCACCTAACCCTGTGCTTGGAGCATCCCTGCCACTCACAGCTTCTCCCGGGATGGAACTGGGCTGGGTTCACCCTGAGCTGAGGGCTGGTGTGCTCAGGGTGCAGCCGCAGGCACTGAGGAGGTCCCCAAGGCGTTCAGCGAGCGCGGACCATGGGAGGCCTTGTGCTCTCCCTCCAAGCTGAGCACTGGGCAGAGGCTGAGTGACTTGCCCGAGGCGGCCCGGCTGGGACGTAAGCACAGGCCTACCTCACATGCAGTCTGCCCTTGTCTCAGATGTGCCCAGGGTCACCCATCTACTCCTTCTCCCCAGGCCTTCCTGGCCTCCCTGAGCCCCGCCATGGTGGTGCCGGAGGACCAGCTGACCCGCTGGCACCCGCGCTTCAACGTGGATGAAGTACCCGACATCGAGCCGGCCGCGCTGCCCCAGCCACCCGCCACGGAGAAGCTCACCACTGCTCAGGAGGTGCTGGCCCGGGCCCGCAACCTGATTTCACCCAGGGTGAGACTGCGAGGCTTGGGCAGCCCATTTCTCCCGGGTG
Task1_train_23012
A change on Chromosome 16 affects gene APRT (adenine phosphoribosyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Adenine phosphoribosyltransferase deficiency
CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACG
CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAAAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACG
Task1_train_23013
A sequence alteration has been identified in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Adenine phosphoribosyltransferase deficiency
CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGTCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
Task1_train_23014
This variant affects the gene APRT (adenine phosphoribosyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; APRT-related disorder
CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGTCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCA
Task1_train_23015
A variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Adenine phosphoribosyltransferase deficiency
ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACG
ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCGCTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACG
Task1_train_23016
A variant has been detected on Chromosome 16 in APRT (adenine phosphoribosyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Adenine phosphoribosyltransferase deficiency
AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTG
AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGAACTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTG
Task1_train_23017
Given a variant located on Chromosome 16 and affecting APRT (adenine phosphoribosyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Adenine phosphoribosyltransferase deficiency
CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCG
CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCGGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCG
Task1_train_23018
A variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Adenine phosphoribosyltransferase deficiency
CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTG
CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCGTGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTG
Task1_train_23019
This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Adenine phosphoribosyltransferase deficiency
ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAA
ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCATCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAA
Task1_train_23020
Assess the clinical impact of this variant on gene APRT (adenine phosphoribosyltransferase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Adenine phosphoribosyltransferase deficiency
GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGC
GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCACCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGC
Task1_train_23021
A mutation in APRT (adenine phosphoribosyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Adenine phosphoribosyltransferase deficiency
CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTG
CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGCCCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTG
Task1_train_23022
This variant lies on Chromosome 16 and affects the gene APRT (adenine phosphoribosyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Adenine phosphoribosyltransferase deficiency
GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACG
GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTACTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACG
Task1_train_23023
A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGA
GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTGCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGA
Task1_train_23024
Gene APRT (adenine phosphoribosyltransferase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Adenine phosphoribosyltransferase deficiency
CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGT
CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAAACTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGT
Task1_train_23025
An alteration has been detected in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Adenine phosphoribosyltransferase deficiency
GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCC
GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCGGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCC
Task1_train_23026
This variant lies on Chromosome 16 and affects the gene APRT (adenine phosphoribosyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Adenine phosphoribosyltransferase deficiency
CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCC
CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACCCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCC
Task1_train_23027
A variant was discovered in gene APRT (adenine phosphoribosyltransferase), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Adenine phosphoribosyltransferase deficiency
GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGC
GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGATTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGC
Task1_train_23028
A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Adenine phosphoribosyltransferase deficiency
GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCC
GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCATGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCC
Task1_train_23029
This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Adenine phosphoribosyltransferase deficiency
GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAG
GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGACCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAG
Task1_train_23030
Consider a variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase). Determine its clinical classification and disease relevance.
Pathogenic; Adenine phosphoribosyltransferase deficiency
CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGA
CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTCGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCACAGCTTGCAGTGAGCGAAGATCGCACCACTGCACGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATTTCAAGACTGGAGAGGTGATCCTGAATTGTCCAGCTACGCCCCATGTCATCACAGGGCCTTCATGACAGGGCCAGAGCCAGCCAGCTTTGAAGACGCGGCCCTGCCCCGACACAGGCAGCCTGGAGAAGCTGGGCAGGACAAGTAGGACATCCCTGGAGCCTCCAGAAGGGACTGGCCTCTGCCCACACCTTGACTTCAGTATTTCTGACCTCCTAAACTCTAATAAAGTCATGCTTACAGCCACTAGATCTGCAGAAGAGCCCTCGCTTGCTCCCCTAGAAGATGGGCCCACATGGCCTCTTCCTGCAGTGCCTGGAGGGTTCTAGCTCCTGAGGTGAGAACCAGGACAGGTTCTGCTGGGCATCACGCCAAGCAGCACATGCCCACAGTACAGCTGAAGTCTGGTGTTGTCCTGGGGCTCCCTGCCCTGGGGAACAGGAGGACAGGAGACGGCTCTTGTGGGAAAGCTGTTTACTGCGTTCTCCCGCTGTGTGTAATTGGGTTCAGTGTGGCTGAAACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGACTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGA
Task1_train_23031
Here’s a variant in APRT (adenine phosphoribosyltransferase) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Adenine phosphoribosyltransferase deficiency
AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAG
AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTCGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAG
Task1_train_23032
Consider this mutation in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Adenine phosphoribosyltransferase deficiency
AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGG
AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGGGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGG
Task1_train_23033
Given a variant located on Chromosome 16 and affecting APRT (adenine phosphoribosyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Adenine phosphoribosyltransferase deficiency
AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAA
AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCGGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAA
Task1_train_23034
A mutation in APRT (adenine phosphoribosyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Adenine phosphoribosyltransferase deficiency
TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCC
TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTGCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCC
Task1_train_23035
A variant found in Chromosome 16 affects APRT, LOC130059760 (adenine phosphoribosyltransferase| ATAC-STARR-seq lymphoblastoid silent region 7879). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Adenine phosphoribosyltransferase deficiency
GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATG
GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCTATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATG
Task1_train_23036
An alteration has been detected in APRT, LOC130059760 (adenine phosphoribosyltransferase| ATAC-STARR-seq lymphoblastoid silent region 7879) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Adenine phosphoribosyltransferase deficiency
GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGC
GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCGTGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGC
Task1_train_23037
The following genetic variant occurs in LOC130059760, APRT (ATAC-STARR-seq lymphoblastoid silent region 7879| adenine phosphoribosyltransferase) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Adenine phosphoribosyltransferase deficiency
GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCATGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGCG
GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTGGTCCTCAGCCTCCCGCAGAAAACAGCTTTGTTGCACAGCTTGGCAGCTGCCACCCTAGACCCTGACTCCAACCCCACCTTGCTGTTACCTGGCTGTGTGAGCCCAGCCTATGTCTCAACCTCTCTGAGCTCCCAAGGCCACTGTAACCACAGCAGCTCCACTTGACACGCCTGGGAAGGCCTTTTAGAACTGGGGGAGAGTGGCCACGGTGGCCTGGCCCTGCCCTTCCTCTGGCCACCCCAGCCCTCTTACCTTCCCGTACTCCAGGGAATAGGAGGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCCGGAGCTGCTTCCAGGTCAGAGTGCAGACCTGGGTCTGTCTTTTAAGGGACCACTTCTTAGCTGTGTGTTCCTAGGGGAGTCACCACCCCTCTCTCTGAGCTGAGCAGCCCATCTGTAACTGGGCTGGTAGAAACCTGACAGGCCTCAGCTTACTCTCAAAGGCAGCTCTGCACCAGGGCTTCTGTCTAAAAAGGGAGTCTCTCGAGGTGGCCTGAGCTGTGATGGTTGGGGGACGCTCAGGGAAACCCTGCCCCGGCCTGGCAGGAGGTCAGGGAGGGCTTCCTGCAGGAGGTGAGAAGGGAGCTCTGGCAGTGTTGTGGCTCCAGCAAGAGCTGGCGCTTTCCTCAGGGCAGTGTCCAGGGAGTGGGCTGTCACACCCTAGGAGAGGCAAGACGGCCAGGAACACTCTGTTCTCCCTGGGCCACCTCTTGGGCTCTCCCGGAGGCCTCCAGGCCTCCCTTCCCTGGGTGGGCATTCCGTGATCTTCACCAGGGAAGGCCTGGCTCGTGGCAGGCGCTCAATACCAGCTCGCAGAAGGAACAAGAAGCAAGGCAGCTGGGCCCTGTGGATTCAGCTTGGGCACTCCAGGGAGACCAACTGACCCGGCAACTCGGTCACGCCTGTCCTGGGCTGGGGACCCGGAACCTGCGGGAAGGACGCCTGCACAGCGCGGCGGCCTCGGGGGCTCAATCTCACAACCCTTCCCGGGCGACCCAAGCACGGCGCCCGTCCCGGCGCCCCCTGAAGCACCCCAAAGGCCCTCCCCCAAGCAGACGCGCAGAGCCCACGTGCTGCCCTCGGCGCGCGCAGAGGCGGAAGCGCCCTAGATGCGGCCACTGGGCACTCGCCTGCGATGTAGTCGATGCGGCCCCCGTGGGTCGCCTTCAGGTGTCGCGCCAGGAGGCCGATGGCGGCGCGGAAGGAGGCGGGGTCCTTCAGGACGGGCGAGATGTCCCTGGACCCAAGGACAGGCCTGGTGACGCCGGGGCCGAAGGAGGGCAGGGCCCCGGGGGCGAAAGACGAGGGTTCCCGCCCCGCCCGCCCGGAGGTCGCGGGCCACGCGCTCCCATCCGTAGGCCCGCAGGTCGGGGCGCCACGAGGGCGGCCTGTGCGTGCACCTGAATACCACGCCTGGGGTGGGGAAGTCGGGGAAGCTGCGGATCCGCTGCTCAACCAGCTGCAGCTCGGAGTCGGCCACGGCCGCGTGCGAAGAGCCAGCGGCAGCCCGAGCGCGCCTGCGCGGGGACGGGCGGGACCGCCACGAGGGGTGGGGCATCCCCGGAGGGCGGAGCGTGGGTGAGGGGCGGGGCATCCGTCGCCGGAAGCCTGTACCGTATTTCATGGACTCCTAGGCGCCATCGATTTTAAGACGCGCTCGCATTCCACGCACCACTGAGCAGAACGTTCGAACCGGACAAAAGTGCGAGTCAAGGCGCCCTTCCTTGTCTCGGGCTACGCTTCTGACTGCAGCCAGGCAGCTGTGGGCCGGGGCCTTGGCGGCTGGAGGAGGGGCGTGAGCTGGTCTCGCCCACGCACCTGGCGCGCGTACGGGCCGCGCCCTTTCTCCTTTATTGGCCGAGATCCCCACGCTGCGCGCGGGAGGCTGGCGCGCGGGGTGGAGAAGGGCGTGAGGAAGCGGTCCAAGTAGCAGGAGGGCGGTGCAGGGCCCGGAGGGAGCAGCCCAGGGCGGAGGCGGCGGGCCTGGGCTGGACCGGCCGGGGGCGCTGGCCTCTCGCGGATGGGCCCTGCCGTTGAGGCGGCTCTTCCCCGCCCGGACCCGGGGGAGGGAGGCCGGAAGGTGTGGCCAGGCCAGGGCGCGCATCCGCGAGGGCAGAAGCCCTTCTGTCCGCCTGCAGAGGCCAGGTGACCCCTTAGCCTTGGGGTGGGGAGCTGTGAACCCCCTGGCCGCCCGAGGACTGGTACCCAGGGGGTTGTGTGAGGCATAACTCCCCCCAAACACAATTTCCTTTCAAGAAAATCCCCAGAGCTAAAATGCCTTGTGCTCTATTCCAAGACTTTTCTTCATTTCGCAACTTTTTTTTGAGAAGGACTCTCGCTCTGTCGCCCAGGATGGAGCACAGTGGCGCCATCTGGGCTCACTGCAAGCTCCACCTCCTGGGTTCCGGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACGCAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATCTGCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCATTTCGCAACTTTTACAATTCAGCTTTGGCCTGGCAGTTACTGCAGAAGGGAAAACCCACTCAGTGGAAGGCAGCCCCCAGGAGCCTTCGGAGGGGGAGGCCGGAGGCTGCATGCGGCTGCTGGGGCCCCGGTTCCAGGGCGGGTGGGGGACCCATCGTCTGATGCCAAGGGGCGTGGTAGGGGCGGCTGCCTCGCAGTGTGCGGTGGTCAGGGCTGGCAAGGCCTGGGGCCTGGGCTCCAGACCCCTAGGGAAGGTGGAAATGGAGGACCCTGACATCCTCACGTCCCCGGGGAAGCTGCCACATGAGCCGGCCCCACCGGTCCAAGTGTGTGAGCTACACTTCAGCCGTCCACGTCCAGCCCAGGAGGCCTCCGCCTTCCCCTTCCTTGTTCCTGATTCTGTCTCCCAGATGGCCCGAGGGGGGCCTGGGAAGGCGTGGGGTGGGGGGGTACTGGAGGAGGGGCCTGGGGAGGGTTCAACACAGAATTGGCCCTGTGGCTTCCTTCAACCCGGGCTGTTGGGCTGGCGTGGGAACAGCAAGGAGCCCCGAGTCCTGCCCTTCAACAACCAATGTGGCGCTGGCCTCTGGAGGAGGCCGGCCGGGAGGCAGCGGGAGCTGGGCACCTGATTCTTGGCAGCTGCTGAGAAGGTGTGAAAGGAAAATAAATCTCCGGACCCCAAAATCACTCAGCCAAGAGAAAAATCAAGCTGGGAATTAGGCAAACCTGCCTCCCGTTTTATTTCTAAATAACATAGTTACAATGATAAGAAGCTACACGCCTCCCTCATAATTAGCGTCCAGGGAAATTCCTTGTGGACAAAGGACAGACGGAACTGGAAGTCATCCCTCTGGGGCTCCCCTGAGACAAACGCTTATATGATTGCCCCGTTCCCTTACTGTTTACATAAAAATGCG
Task1_train_23038
The gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGA
TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCACCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGA
Task1_train_23039
Here is a mutation in GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Morquio syndrome
GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCACCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
Task1_train_23040
A mutation in GALNS (galactosamine (N-acetyl)-6-sulfatase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTCTCTGCTGGGGAAGGGAGGGGAGGGAAAGGGACGGGAAGGGAGGCCCTGCCCTGGGAGAAGGGAGAGCCACAACGCTCAGAATCCCTACAGAAACCCTAAGACAGGGAGGAGCAGGACCAACATGTGAAAGGCAAGAGAAAACACAGAAAACAAAAACAGACCCAGGGAGCTGACACAGATTCACACACTCAAGAAGGGCAAGGATTTTACAGTAACCACAATTCTCTTTCTGCTGCCCCTGGGCCTCCTGATTCGGGAAAGGCGAGGTATGCCTCTAACATTCCCAGAGCGGGTGCTGCAGGCCAAGGGGCTCGTCCGAGGACTGTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAACGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCCGGGGACCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTCACAGGCGGCAATGCCGGGGACCGATGCCCAGGATGGCCCTTGCAGGTGACAGTGCTGGGTAAAACCCGAAAGAAGAGCGGGTGCGGGGCCTGCACAGGGTGGGGAGGAGCCAAAACACTCCTGGGCATCATTGCCCTCCAGACACTGCCCCACGAGCAGCTTCCCTCCTCAGCCTGGGTGCTCAGCCCTCAGCCCCAGTTCTCACTTCCAGTCTTTAGACTCTCCATTACACTAAATGATTTTCTTCCCAATTAAGGCAGATTAGCAGGGGGTTCATATCTCAAGACTTTGATGCTGGGAGTGGGTGGGGCTGAGAGAGACCTCTCAGGAGGGGCTGGGGGATGCTGGAGCGTAGGGGTCAGCAGGGGCCAGAAAAGACCGTGGGGAGGGAGCAGGAGGCTTGAGGCGAGGGCTCGTGGGAGAAAGCCTGGCGCTGACAATGCTGGGGTAGCCTGGGGCGGCAGGAGCCCCAGGCCCTGTGCGTGTGGCGTTTCACCCTCCCACACTGGGGGTTGCTGTGGTGATGCCAATGCTGCGGCCCCCATGTAGCACCTGGGCCAAGCAGGCCACGTCTCTGTCGCCTCCAGCCTGGGGTGTGGGGGAGGCTCAGATGCCCTGGCAGGATGGAGAGGCCCATGGGGGCCACCTGACCAGGGTCTAGGCCACGCCTGTAGCTATGCCGCGGGGCTACTGTCATCACGCGGGGCAGGAAGAGGTCCCTCCCTCCTCTCCAGCCTGTCAGCTGCCATGCCCTAGGCCACGCTGAACGACTGGGGGCCACACAGAGAAGGCTGTGGAGGGGGTGGAGTTCCTGCCTGTCTCACCCTCCTGTGCCTCCCCCAGGACGGTGCTCAGGGGCCACGTCTGGATAGAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCACCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCG
Task1_train_23041
Gene GALNS (galactosamine (N-acetyl)-6-sulfatase), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATGCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCGATGGGGCTGGGGGCCAATCCCTGGGGGGGCGTGAGCCCCGCTGCCCAGCTGGGTCTACAGATATGCATACATGCTCACACGCCCACAGCAGGGACTGAGCGGGGTCACAAGGCCTGTGAGAGACAGAGGAGCCTCAAACCAGGCCCAAAGACCCCAGAGCCAGGCCACGCCCTCACTCCCTGGCACCCTTCTCTGCCTCTGTGGATCAGATGAAAGGAGAATCACAGCCCTCCCAGGGAGATGCCCCTCCAGGCCCACCTGTCCGGAGAGGATCAGCCTCGCTCTAACACTGAATGCCCTAAGGCCACTGTGAGCCCTGCCCCTTAAGTCAGAGGAGCAGGTGGAGAAAAACCAGATGTGGAGGGGCAGCTGAGGCTGGACAGGAGCAGCTCCGAGTGGCTGGGGTGGGGACGGCTCCTGACACACCCAGAGAGCTCCAGGACAGGCAGGAGGCTGTCTTTCCCGCCGTGCCTTGACCTCCGGAGGGCGTGGGCACTGCTGACCAGCCATGAGCAGAGCGTGCCATCTGGCTTCCCTCAGTGGCCCTGTCTGCTTCTTGTTTTTTGTTTTTGTTTTTTGAGATGGAGTTTTGTTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGACTCAGTCTCCCGAGAAGCTGGGATTACAGGTATGTGTCACTACGCCCGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCGGCGGCCCTGTCTCTTTCTTAACTCGGGGGCTCCAGGCTTGGGTCACTCGACGGGGAGACTGGGGTGGGGCTGGAGAGACACCCCTGCCTGGCAAGCTCAGCCCCTGGGGCAGCTGGGCAGGGACCGCCATCCGCTGCCAGGCCCTGGAGCTCCCACCCAGTGTCGACAGCCCTCCCCACGGTCCAGGGGCACCCTCGCCGCCTGCAGCCAGCTCCTCGCTAGGGCAGACGGCGATCGCCAGCTTCTCCAACAGAGGAGCCCTGGCCTCACAGGGACACTCACTCCGCGCTGCAGCCGCTCACGGGATGTGGGGTCTGCAGCGCCCAGTGTGGGGCAGGGAATGCAAAGCTCAGCGTTTGCCAGGAAAGTTCAGGAAGCTTTGCAGAAGGTGAGAAGCTTCCCCAGGTCTGGTCAGCAGTGTCTGTGCGACTGCTTCCCGTCCTTCCCGTGTCCTTTAAAGGACAGAATAATAAAGGAAAGAAATCCAGATGCTTTTGTCATCTGAAAAAATAACTGCGGAGCAGTGCTTGTGGTGCCGGCAGGGCGGGCGGGCGGGAGTGGTGTCAGCACAGGCAGGGTCCTCGTGGAGCGTTTTCGAAGAACTCTCCAGGCAGCGATGCCTTCCAGAAACATCCAGAAATGCAGTGGGCAGCTGCGGCTGTGGGAGAAGTCACTGAAACCGTTATCAGCGCTTTCGAGACTTCACTCAGAATCCAGGGCTGCAGGGACTAAAGCCTCCCCTGCCCAGAGGGAACTGTCGGGACAGACGTCAGGCGCTTTCACTGAAACCCCGTCGTGGTGTCCTGGTGCACAGGCCTGATGCCATCGAATTCAATTTCACTTTGTGGCCCACGGGAAAAGGCAACTTGGTGGCTCTGGGAAGAGGGTTTCCCTTCCTCAGGTGGGGAGAGGGTTTCCCTTCTTCAGGGAGCGAGGCAGATGGCAAGGTTCCAAAACGCTGAAATTGGCATTTTTCTCAGCTGGAGCCTTTCCGTGGGCAGGTGGGTGGGGAGGTCTGTGGGGTACAGACGTCCCTGAACCCACTACGCATGGAGCCGGGCGGCGCTGGGGTGGCTCCCCTCACCTTTTCCAGGCTGCTGCTGAGCACAGCCACGGGTGGCTCCCAGCCTG
TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGGGTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGGTGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTGTCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTGGGCGGCCGGGGCTGGGGTGCCTGGATGTCTGGGGCTGGGGTTTCTGGGCAGCCGGGGCTGGGGTGCCTGGGTGTCCGGGACTGGGATTCCTGGGCAGCTGGGGCTGGGGTGCCTGGGTGTCTGGGGTGCCTGGGCGGCCGGGGCTAGGGTGCCTGGGCGTCCCCTCATTGCTGGTCCTTGGCAAGGCTGGGCCAGACCCTGGGGAGGGTGGGCAGACAAGAGGATAAGCAGGCGGCACGGGGTCTCCTGACCATGTTGGGCCTGCGAGTCAGGAACGGGGAGTGGGGGACGCAGCTGGGCACCGTCTCTCCCCACAGTGACCAACCACTTGTGCCAGGTCTCGAGAGGGGACAAGTGAGCAAAACTCCCTCTACCCGGCCCCAGATAGCCGGAGGCGGCAGCTGCCTTGGGCCGTCCCCACCTTGCTTCCCGTTGAGCCTTTGGAATCCTCATCCCTTCAGGACCACCCAGGAAACGTGGTTTGAGTGGAATGGTGGCTGCTCTCAGGGGGTAGGAAATGGACTTTGGACACTAAGGATTTGGACAGAAGGTAAGAGCTGGGCCATGGACTTGGCAGAGCAGCGACTTGGATGGAAGGAAGAAGGAAGCTACAGGAAGCCATGAGGCACCAAAAACCAGGCTGGGCAGGGAACAGGGGTGGGGCAGACAGGGGCAGCGTGTGCCCGGGCTACAGACAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCGTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCATGTGCCCGGGTACAGGCAGGGATGAGGCCCCTCTCCTGGCCTTGCCCTCCCTCCTAAGGCTTTCTTGAAAGCCAGGGCCTCGCTGTGCTTGGACCCTCCCAGGATGGCCCCTGCCCCACAGGCAGGTCCCCAGGTCCTCTCGTCTCAGGCACCCCTGCCTCCTCCTGCCCTGGGCACGAGCACGCCTGTGTCCAGAACCAGGAGGGCTGCTGGGCCTGGGGGTTGCACCTGATTAGCAGCTCTGGGCTTCACTACTTGGATCGGGGGAAGGGGCCGGGGCAGGTCTAGCACCAACCTGTCCATCAGCCGGCCCTGCAGGAGGGTGGGGAGGAGGTTGAGGCCATCAATGGCCCTGTCGCTGGGCGGCGTCAGGCCCGCAAGGGCCAGGCTGGTGGTGAAGAGGTCCATGATTCTGCCCAGCTGGTGGCTCACCTGAAACACATGGCAGCAACACGGTCAGGGCACTCTGCACCGACCCGATGGGGCTGGGGGCCAATCCCTGGGGGGGCGTGAGCCCCGCTGCCCAGCTGGGTCTACAGATATGCATACATGCTCACACGCCCACAGCAGGGACTGAGCGGGGTCACAAGGCCTGTGAGAGACAGAGGAGCCTCAAACCAGGCCCAAAGACCCCAGAGCCAGGCCACGCCCTCACTCCCTGGCACCCTTCTCTGCCTCTGTGGATCAGATGAAAGGAGAATCACAGCCCTCCCAGGGAGATGCCCCTCCAGGCCCACCTGTCCGGAGAGGATCAGCCTCGCTCTAACACTGAATGCCCTAAGGCCACTGTGAGCCCTGCCCCTTAAGTCAGAGGAGCAGGTGGAGAAAAACCAGATGTGGAGGGGCAGCTGAGGCTGGACAGGAGCAGCTCCGAGTGGCTGGGGTGGGGACGGCTCCTGACACACCCAGAGAGCTCCAGGACAGGCAGGAGGCTGTCTTTCCCGCCGTGCCTTGACCTCCGGAGGGCGTGGGCACTGCTGACCAGCCATGAGCAGAGCGTGCCATCTGGCTTCCCTCAGTGGCCCTGTCTGCTTCTTGTTTTTTGTTTTTGTTTTTTGAGATGGAGTTTTGTTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGACTCAGTCTCCCGAGAAGCTGGGATTACAGGTATGTGTCACTACGCCCGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCGGCGGCCCTGTCTCTTTCTTAACTCGGGGGCTCCAGGCTTGGGTCACTCGACGGGGAGACTGGGGTGGGGCTGGAGAGACACCCCTGCCTGGCAAGCTCAGCCCCTGGGGCAGCTGGGCAGGGACCGCCATCCGCTGCCAGGCCCTGGAGCTCCCACCCAGTGTCGACAGCCCTCCCCACGGTCCAGGGGCACCCTCGCCGCCTGCAGCCAGCTCCTCGCTAGGGCAGACGGCGATCGCCAGCTTCTCCAACAGAGGAGCCCTGGCCTCACAGGGACACTCACTCCGCGCTGCAGCCGCTCACGGGATGTGGGGTCTGCAGCGCCCAGTGTGGGGCAGGGAATGCAAAGCTCAGCGTTTGCCAGGAAAGTTCAGGAAGCTTTGCAGAAGGTGAGAAGCTTCCCCAGGTCTGGTCAGCAGTGTCTGTGCGACTGCTTCCCGTCCTTCCCGTGTCCTTTAAAGGACAGAATAATAAAGGAAAGAAATCCAGATGCTTTTGTCATCTGAAAAAATAACTGCGGAGCAGTGCTTGTGGTGCCGGCAGGGCGGGCGGGCGGGAGTGGTGTCAGCACAGGCAGGGTCCTCGTGGAGCGTTTTCGAAGAACTCTCCAGGCAGCGATGCCTTCCAGAAACATCCAGAAATGCAGTGGGCAGCTGCGGCTGTGGGAGAAGTCACTGAAACCGTTATCAGCGCTTTCGAGACTTCACTCAGAATCCAGGGCTGCAGGGACTAAAGCCTCCCCTGCCCAGAGGGAACTGTCGGGACAGACGTCAGGCGCTTTCACTGAAACCCCGTCGTGGTGTCCTGGTGCACAGGCCTGATGCCATCGAATTCAATTTCACTTTGTGGCCCACGGGAAAAGGCAACTTGGTGGCTCTGGGAAGAGGGTTTCCCTTCCTCAGGTGGGGAGAGGGTTTCCCTTCTTCAGGGAGCGAGGCAGATGGCAAGGTTCCAAAACGCTGAAATTGGCATTTTTCTCAGCTGGAGCCTTTCCGTGGGCAGGTGGGTGGGGAGGTCTGTGGGGTACAGACGTCCCTGAACCCACTACGCATGGAGCCGGGCGGCGCTGGGGTGGCTCCCCTCACCTTTTCCAGGCTGCTGCTGAGCACAGCCACGGGTGGCTCCCAGCCTG
Task1_train_23042
The following genetic variant occurs in GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Inborn genetic diseases
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
Task1_train_23043
A variant was discovered in gene GALNS (galactosamine (N-acetyl)-6-sulfatase), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Morquio syndrome
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
Task1_train_23044
This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCCTCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTG
Task1_train_23045
Here’s a variant in GALNS (galactosamine (N-acetyl)-6-sulfatase) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGG
AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCACCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGG
Task1_train_23046
Mutation context: Chromosome 16, Gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCAACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
Task1_train_23047
Gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Morquio syndrome
TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCAACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCATGGTTCTGACTCAGTCAGTCACGGTGGGGCGTAGGAATCTGTGTTTCTGACAAGCCCCCAAGACCGGATTTTGGTTTCTGAACCATCACTTGTGGGAAGTGGTCACGGGGCAAAGGCCATCTCAGGTGACTACACCATCCCTGGCTCACTCCCAGACATGGAAGAAGGGGGTGGGGGGCCCACGTCAGGGACAAAAGCCACCCCTGCTGCTGTAGCCTGAGCCACTTGAGGCTCTCTCAGCTTCGGGTCCCCTGAATAAAAGGGAAAAAGGAAACGAAGGGGCCGGCTGCGGTGGCTCATACCTGTCATCCCAGTACCTTGGGAGGCCGAAGCAGGGGGACTGCTTGAACTCGGGAGTTCAAGACTAGCCTAGACTGGTTTCTACCAAAGAGAGACCACGGCTAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGTGTGGCGGCACGTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTGGAGCCCAGGAGGTCAAGGCTACAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATATTTTTCCGGCAGTGAAAAAGTGAACCATCCAGGGGAGGCAAAGTCACCGCAGCTCCTTCCTGCGCTGCCATCCAACCCCGAGCGGCAGCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGA
Task1_train_23048
Here is a variant affecting GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Morquio syndrome
AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCGACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCAACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
Task1_train_23049
The gene GALNS (galactosamine (N-acetyl)-6-sulfatase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCGACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTCATTCTCTTGACTTAGCCTGCCCAGCAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGACTCCAGTGGGCGGGAGATGGAGCTGTCCGGAGGGCCTGCACGAGAGCCAGGCTCACCCAGGGGAGCTATCTGGTGGGACGTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCGGGTTCAGGTTTGTTGGCGCTGGGGATGGGTCAGGCATTCATCAGTGCCGAGCGGGGGAAAGGCTGAAGCTCCATCCCAGGAACCACTTGACAGGGCTGTGGTGGGGGCAGGAGTCCATCTTCATGGAGGCAGCCCGGCCCCTGGGTGACCAGGTCCAGGCCACACTCACAGGGCTGCTCGGGGTCTGGGGTGCCGGCCCCCACCTCAGCAGGGACACCCTGCTCCACCGGCCCTGCTGTTTCCATGCGGCCTCCAAAGCCTCCGGCCTCCGGGGTCACCCTTCGGGAGGCGTCAGCCTCTTCCAAGACAAACCCTCTCCCCTGTGTCACCTCCTCCCCACCCCCAAGTTCAAGGTCACTCCTGCTTCCAGGTTAGTCCTGGGCCAGAAGGGCCTTGCTCGAGGCTCGGTGACATCTGCTCCTCCCGCTGGACCCAGAGGGACCCTTCATGCTCTGCCCACCACAGACCCCGTGGGCACAGCCGGTCCAGGCACTCTTCGCTGACACGCTGGCTGTGGGGAAACCGTGAGAAGTGACAGCGAGCACTCACCTTGTTCGGGGGCGGAAATGAGGGCAGCGCCGTTGTCCAACGTGAAGAAGACGAAGGTGTTGTCCGCGACGTGCAGGTCTTGGAGGAGCTCCAGTATCTTCCCAATGCTGTCATCAATCTCCCGGACGGCGTCTCCATACCTGCAGGATGGTGACAAAAGGCATCTCCATACCTGGAGGATGGTGACAAATGGATCAGGCAGCCAACGGCATACTGTGATTCACGGAGTTCATTAAATCATAACTTCACAGACCACAGTGAAACTGGCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGACAGAGCCAGCACCCCCACCACAGCCCTCCTCTGCTGATCCCAGGCCAGTGGACGGCTTCAAAGGGGTGGGGTTGCTCTGGCCTTTCCATAATTGGCCTAAATGCCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCC
Task1_train_23050
Gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGGATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGAATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
Task1_train_23051
This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGGATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACAGGGCGAGGATGGTGCGGTCCCCATCACCTGCAGGTAGATCTGGGTGAGGTTGGCTTCCCCCGTCTTCAGATTAATAGGAAATTCTTCATAATATCTGAAAAGAACACAGATCCAGACAGACTTCAGAATTTAGGCCAAGAAAGTCCCGTTCTCCCTGATTTCACCAGCAAAGCCATGGGCTTCATTTAAAAGAAGGCTAGGGCTGGGCGTCATGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAAGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCACCCTGGGTGACAGAGCAAGATCCTGTCTCAAGAAAAAAAAAAAAAAGGAAGCCTGGAAATGAAATGTCCACTCAGGGAACAACCAAGCTGGACGCATCCCTCGCTCCCCCAGGGCACGGTCTTGCATCTGATGACCTGGCTGAGGCCGGTGCTGCAATAACCTGCCACATGGGAAGATGGGGGAATGGGGCTGAGGGCACGACACCAAGGTGAAGGCAGTGAGGCGGCTGTGGTCACTCGGCTGGGGCTGGGGAGCCGCCGCTCAGGCCATGGGGCTCGTTCTGAAGCAGCTACAGTGCTGGTTGTCCCAGCCTGTGACTAATGCCAACCACAGAACTGCACACTTCAAATGGGGGCTGCGTGGTGCGACTCCCACACCTCCACGGGGCTCTATCTAGAAAGAGGCAGCAAGCTGGTGCTGCTTCTGGTCACCGTCATGTAATGAATGAGCACTTCCGCCAAGAAGAGTCAAGTTAAGCAAAATAAAATTCACAAAAGATGAGGGTCCCGGACCCGGCACTGCCGTGTCAAGAGGTGCTGCCCCCACGCCCGGGCACCAGGACGGCTCTGTCTGGACAGCGGCTTTTGCTCCTGGTGTGGCTCCCAGTGGGGGTTTCATCCCACCTCCTGTCCTGCCCATGTCCCTGGATGTCTGGAGCACAGCCGGCCTCCCCACCCGTAGACCACATGGGCAGTACCCTGACAGCTAGGGCAGACCGTGTGGGCTCGCTCTGCTGGGGGCCTTCCTCTCTCAGGACAGCTACAGGGATCTACGACCCTGAAAAGGTGGGAAACCCCAGGCAGGAGTCTCATAGGCTCTGGGGCAAAACTTGGTGGGACAGAAGCCACCAAACCAAAGCCCTCGGTGCCCGGGGACCCAGGGACAGACCAGCCCTCATGAGTGGCGACTTGAGCCCACCAGTGCTAGAGGCGGGGGGCAGGCACGCCGGGCACAGCAGTTCAGGACGTGGGAGGGGAAGGGGTGGGGCTCCATTACCTGCCAACCATCTCCCAGTCCCTGTACACAGGGATGTTGGGCCTGGCCTTGTTGTCATAAGGTCCAAAGTGGCAGTTGGGGTATCCAAACCACTCATCAAATCCGTGCTTCAGGGGGTGGAACTGGGGCCTGTGACCCAGATGCCTGGAAACAGGAACCCAGGACACTTCAGGGACCCCACGTGGGGACACTCGGAAGTTCTGAGCAGCAACAGATACCACCTTCACAAAATTCTTGGTAAGACGAGCACCCTCCAGCACTGAGTATGGGCTATGCCTGGGCACGGCAGGGACAAAAGACCAAGGCCTCACCCGAGGAGGGTGCTGGCACTGCCCGCCTACCCTGCAGAGCGTCTGGGCACAACCGAGGGCGGCAGGCATGGCGGCGGCCGGGGTTCCCTGCACGGTGAAGGGTGGTGCATCGTGAGGAGCCTCCCAGCCGCCTGGAACCCGCCTGACATGCCCCTCGTGGCCCCGGCTCCTTCCTTCCACGTTTTCTGAACTCCCAGGAGAGTTTTGCGGGTCATGCCTCGAACCCAAGTGTGTCTCCTCTGGGTTTTCCAGGGCAGAAAATATTTCCTGCCAGGTAATTACTGGGTCTCTCCACACCGAGGCGCTCAGAGTCTCATCTCCCAGTTCAGGGCAATGGCCCCAGGATGACGACTGGGCGGGGCGTTGTGTGCCGTGCGGGAGCCCCGGGGCCTGCCAGCTGTACCCACATCCCCAGGACCCTGGCAGAGGCAGGGATTAGAGTGACGACAAGAGAACGTGACAGTGTGGCCACACTGGTGACCTCCACCAACCGCTCTCCTGGGACCGGGGTTCACCTGCTGGGAATGGCCATCGCCAGGCATCACACCCCAGGCCTGTGGGAACCCCTCCAGACCCCGTCCCGCACTCCCCTTCTGACAATCCCCCGCAGACCTTGTGCTCCCACCCTCTGGTGGCACCTAATCTCATCCTCCGGCCCACAGCAGCCCTGCAGGCCACACCTCTGTGCCCACTCGCCCTGGCCCCCAGGCCAGCTGTCCGGGTTTCCTTGCGCAGCCTGTCCTGTCCTGGAACGAATCCAGCTTGCGGCTGCTCTTCAGAACGGGCTGCAGGAGAGGTGGTATGAGATGGCTTCTAGGCACGGCCGTGGGCGGGTCTCACGTCAGTTGCGTGTCGTCTGAGGAAAGTTCTTCTGCAGCTACGGCTTTGAAAGCAGCATCCCCGACGCAGATTTCCCCGAGGCAGATTTCACCACAGCAGATTTCTGCTGCCTCCCTGGACATGGCCTCTGTACCCTGGACCTCCCGAGCTGCCTCTCCCCATCTCCTCTCTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACT
Task1_train_23052
Chromosome 16 houses a mutation in gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Morquio syndrome
GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCTGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
Task1_train_23053
A variant affecting Chromosome 16, within the gene GALNS (galactosamine (N-acetyl)-6-sulfatase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCTGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGT
Task1_train_23054
A variant was discovered on Chromosome 16, affecting GALNS (galactosamine (N-acetyl)-6-sulfatase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCTGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
Task1_train_23055
Given a variant located on Chromosome 16 and affecting GALNS (galactosamine (N-acetyl)-6-sulfatase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Morquio syndrome
TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGTCCGCAGCACAAAGGCCTTGCTCAGGGGAAGCACATGGGCAGGACGCTACACAAATTAAGCTGTCAGCTCAACGTCCTTGTCCGAAAGCAGCAGTGGGGCCTGGCACTCACCAGCAGGTGACCTGGAGCAGGGAGTGTCCGCGGCCCTCTGGGACTCAAGTCCCTGCCCTGCACACCCGCGTGGCTTCATGCAGATCAAGCAGCCTCTTTTTGAGTCCAGGTGAGGGGCCTCAGGGAAGTCTGAGTCATGGCTGACAACACCCCTACTGCCCTGAGAGGGGACCCTGCTGGGATAGGGACCCCCCCACCTGACTGAGCAGCCGCTGTAGGACCCAGCCCGGGCCATCCAGCCACTGCACCATGTGCGGGAGGAGCCTGGGGCTCTGAGGTCTGCCTGGCTCCTGCTCCCACTCCTTGGGGTCCCCTCTCTCCCGTCGACAGCTGTTCAGGAGCCTCGAGGCCTCTATGGAGACCCACTCCCTGTCTAGCTCTGGCCACCGGCACCAATGACCATGCATAGGAGGCCGCTGGGCCCAAGACAGAGCTGCCAGGCCAGGCGGAGAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCTGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCA
Task1_train_23056
A variant on Chromosome 16 in gene GALNS (galactosamine (N-acetyl)-6-sulfatase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCATCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
Task1_train_23057
Given a variant located on Chromosome 16 and affecting GALNS (galactosamine (N-acetyl)-6-sulfatase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Inborn genetic diseases
GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCCTGGCTGCCATGACCATCTACATCCAAGGAGCATCCATCTGAAGGGGACCGGCAGGAGCCACAGGCAGCCGACTGGGGATCACAGAGGCTGGGAAAGCAGCAAGGGCTTCCTGGAGGAGGCGGCATGCGGACCTGACAGGCGGGGAACGCTCCAACAAGTGGAGAGAAATTCGGGACAGGTGACTCCTACCCAACCCTCTAGGCTCACTCAGGCGTCCCAGGGAGTAAAAGAAATGAAACATCCTGTGCGCCTAAAACCGCAGCGTGGGGGCTGTGTAGCACCCAAGCTCTCATCAGCTCAGGATTTCATCAACTGCTAGGCTGTTACTCTCCTTCCTGGTGGCTTCTTTGTGGTTTAGACCAGAGCTTTCACCATCCAACAGGCCCCTAGGGTGGACAGGCAGCTCCTCCGCCACAGCTCCTGTGTGTAATGACGTGGCCCCTCCAAGGACGACGTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCATCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGT
Task1_train_23058
Located on Chromosome 16, this mutation impacts GALNS (galactosamine (N-acetyl)-6-sulfatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not specified
GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGTTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
Task1_train_23059
A variant found in Chromosome 16 affects GALNS (galactosamine (N-acetyl)-6-sulfatase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGTTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCA
Task1_train_23060
This variant lies on Chromosome 16 and affects the gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGCCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCAATCTGAATGCAAATATGGATATTTAGAGCTGGCATCAGCAA
GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAAGCTCCGGCAGGAGCTGCTCCGAGTCTGGGATGCCGCCCACAATCTCCTGCGGTGTGTAGGCTGGAAGAGCAGCGCTGGGTGAGCCCCGAGGAGACCCCGAGAAGCTGCCACCAACCCCATCCTAACAGGACACTGGGGGCTGCGTCCACACATCCTAACAGGACACTGGCCCCTCGGGGTCAAAGGCTGTGCCTGGGGGCTGCGCGTCCACAGGGCATGGCACTTCCCAAGATTTTTCCAGGCACCCCTCAGAGCCAGTGCCATCACCAGAGGGTGGGGACGGGGCAGACTCCGTGCCCCCCAGCGCCTTCCTTGGGACTCCTGCCCACCCTCAGGCCCCACCCTGCCTCTCAGGCCAGCCTCCCACCTGCCTGGTCTCCAGGGGTCTCTGGAATATGCCACGTGATGCTGCACTGCCCCACCCCTGCCTCCCCCGTCCTTCCCTTTCCTCAAATGCCACTGGAAATCCCACTTCCCCTGTGAGATGCCCCTGGGGAGCCCATCCAAACCCCTCAAGCACAGCGATTCCAGAACATTCCAGAACTGCCGCTGATGCCACAGCCCCGGCCTCCCTGTGGGTGTGCGGCTCACCCGCCTGGGGAGTGGGAGCTTCTGGGGTGGGGGTGCCGGCTCAGCTCCTTAGGCCAGACTGGGCACCCTCCGCTCAGTCCCCACTGGGCCAGGGCAGGGAAGGAAGCCAGCTAGGGGGGCCTGCACTTCCACCTAAGTCCCAGAGACCCAGGCACCAGCGGTACCCCACCTGCAGCTTGCCACCCGAGTCCCGGAGACACGGGCACCACCCGTAGCCCACCTGCCCAACCCTGCACCCCAAGGGTGTCCCTGGAGGCGGTGGGCAGCCTACCGTTTCTGGCATGGGCGTTGGTGGTGTAGAAGCCATTGCGGATGGGTAGCCGTCCTGTGAGCAGTGCCGCCCTCGCTATGTGGAGGTGACAGAAACAGAAACTGGATAAGAAGGGTGTGGCTCAGACCCCGGGCGTCAACAAGAGCCCCAACGAGTAGACAGACGCGTGACAGACGAGGCACGCGCAGGTTTACAAGGGGCTGCCACGCCTGTCAATCCCCGTTAGCGTCTCCACCACCTGGGTGGGGCACGGCACCCATTCCACTGAAAGACGCGTGGCCCTTGGGCCCTGCAGCTCAGCGTTGTCCCCAAGACCCCGCCTCCTTTCGCAGGCTCCTGGGACACCCACTGGGCGTGCAGGTCCACACGCCCCCATCCTCGAGCACCAGCCCCGTGCCCTGCCTTCTCCTCTTCCTCACGATCAACACCACATGTTTCTGTCTCCAGCAGGAGAGACTCTCCCCAGGGAGGGAGGGAGTGGGACTCCTGCTTCCCAGGTACCCTGAGACGGAGCCACACTGCAGCACCTCTCCCCAGGCGGCCACAGCACTCGACTCTGGGAAACAGAACAGCAGCCACCAACAATACCGCAACTTCGACCCTGAAAACCCAGCAGGTGCCGCACCCCACATGGCACGGAGCCGGGCTGGGATTTGATGAGAAAGGCCTGAGCCCACCTGCCACCCTCCCTGCAGTAGTAGGAATAGACAAGGTTGATGCAGCCGCCCAGAGTCAGGGCTGGAAGGACCCGGGAGGCCTCGGCCTGTTGGGCTCACCCCTTCCTGGGGGCGAGGGCCCCGCTGACTTACATGGCGAGCACAGAGGGTTGGCAGAATAGAAGTTTGGGAAAAGCAGCCCTTCTGCAGGCATCCGGTCCAAATTCGGGGTCTCTCTGGAGGGCTCTCCATACACCCCGAGGTCACCCCATCCCATCTGCAGGGAAGAGCACGGGGAGGAGGAATGAGCGCCTTCTGCAGGTGCTTCTGGCCTGGGGAGCTGCCCATGGTGCCAAGAGCGTGTCGGGGACCGTGGAAGCCAGCACCACCCTGTGTCCCAGCCAGCGGCAGAGCTCGGCCAAACCCCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAAACCTCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGGTCAGCCCACGCTGTCTTTCGCCTCCACTTCTGCTTGGTCTTCAGGTGGGGAATGTGTCCGTCTGCCTCCTCCCAGCCTGACACCAGCATCTGCATGCTCGCAGGAGCTGGCCTCTAAACACGTGCATCTATTTTCAACATAAATACACAGGCCCTCGTATGTCTGTACACGTCTAGATTTCAAAGTCAACTGGTAACTGTCCCCCAGAAGCCCAGTTATCGTGTGACCCTGCAGTTCCACGCTGCAACTCCACTCCTAGCTGTACACCCAAGAGACTGAAACTTACGTCCACACGCAGGCCTGCATACGAGCGTCCAGGGCAGCACGACTCAGTGGCCAAAAGGCAGGAGCACCCTGAGCGCCCATCGGCAGACGACAAAGTGCGGCCGGCGTGTACTACGTGGGTGTGGCCACATTTGGAAGTAGGGTCTCTGCAGATGTAGTGAGCTAAGATGAGGTCACGCTGGGCCAGGGTGGGCCCTCAATCCTATGACTGGGCCCTTAGAGACGCAGACATGCAGTAGAGATGCCGGGTGAAGGCCGAGGCCGAGACTGGAGTGACGCAGCCACCAGCCAGGGGACAGCAAGGACCTTCCTGGAGAGCCTGAGGGGGAGGGGCCCGGCTGACACCTTGATTTTGCACTTCTGGCCTCCAGAATCCGGCAAGAATCCATTTCCGCTAAGGCCACCTGGCCTGTGGTAACGTGTTATGTCTCAGGAAACTCACGCACGTACCGCGGCACACTACCCAACCATCGAAAGGAAGGGCACCCCACACCGCGCACGGCCCTGGAAAGCTTCATGTGAGGGAAGGAAGCAGACACAAGGGCCACACAGGCTGTGATTTGCTCATTAAGCCTCCGGAACAGGCCGGTCCGCAGAGGCAGGAGGCGGCTGAGTGGCTGCCGGGGCTGGGGGTGGGTGCTGGGGAGGGCCTGCTGATGAGTACCGGTTTCTTCTTGGGATGGACTGTTTGGAAGCAGGTAGAAGGGATGGAGGCACCACGCTGTGAATGGACTGTGCCCGAGTGGTGCACGTTAAGGTGGCTGTCATGGTCAATTTTACGTTCTGTGTATTTTACAATAAAAACCCCAAGCAGGAGGACGGGTGAGCACAGGGCAGGAAGCACGGAGGCTGGGGTGATGCCAGGAGGCCGGGGTGATGCCAGGTGTGATGGCACCAGCACAGCAAATGCCCACGGCAAACTCCGGAGGTGAGTGGCAGCGGCGGTGTTCACTGAAAACTTCTTCAAATTTTACAGTGTGTATTGTTGGAAAAAAGTGCTTTTAAACAGGCAGTGGGCCAGGACTTTGCTCTAGAAGGAGAAGGGGAGGGCACCGCCTGGGGCTTTGGCTCTCCTCGGATCCTCCAGCCGTCTCCCTGAGCGCCCACCTCAGCAGGAGCCTGGTAGAAGCCAACACTCCGAGGCCCCTCTGTCTGGCCTGTCTTCCTTCCTTAAGGACATATTCCCTCCTGAGGTGCTCCAAGCACCAACCAAGACACCAGTGAAGTGACTGTGCCTGCCTGGGCCCCTGCCCTCTACAGGCCGCCTTCAGCAGCTTCGGCAGCACAAACACACAACACCTGGGAAAGACAACACATTCTAAACACAACGACCAAGTTCACAGGCCCAGCTGAATTCAACCACCACGTTCACAGGCCCAGCTGCATTCAACGCATATTTATTTCTGAAACCAATCTGAATGCAAATATGGATATTTAGAGCTGGCATCAGCAA
Task1_train_23061
This variant lies on Chromosome 16 and affects the gene GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TGGCCAGTTCAGAGGCAGCAGAGCCACGAAAGGGGAAACTCGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAG
TGGCCAGTTCAGAGGCAGCAGAGCCACGAAAGGGGAAACTCGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTGGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAG
Task1_train_23062
This mutation occurs in GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A
TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTT
TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTTATTTAACCCAACATAACCAAAATATTATTTCGACAAGTCTTCAACATAAAAAATTATTCATGAGCTGCCCCGCCTCACCCCTCTGTCCTCTGAGAAAGTCAGGAAAAGCAGAAACTTAACAGGGAGGCTTCACCTGCAGAGCCCAGCTCATCCAGCGAAGCTATGCTGGCCCAGAAGGAGTTACACAATGAAAAGAAGAAATTCTGAAACAAAGTATCTACACTGGCCCAGAGGAACTTCAAAAGTGAAAGGATGAAATTCTGAAGCAAAGTATCTTTAGGAGGGAGATGCCACTCAGTGCAGAGAAAGGCCCGGCTACTGCTGTCAGGACACGGACCCCTGGGCGCTGGAGAGCGTGCTCTGGAAAGCAGTCACTGCACACAAATAAGACATATGAGATGGAAAAGCAGCTGCCCAGGACTGTCGGCTGTCACCCCTGGGTGGGGAAATTATGGGTGGTGTCTGTTATCTTTTCAAGTATATCTTTATGTTAAAAAACCATTAATTTAATAAAATTGTTAAGTGAGATATTTTACATTATTTTTCTTTCACCAAGTCTTCTAAATCTGTGTATTTTACACTACCAGCACCTTCCAATTCCGACAGCCACGACTGCCCAGCCCTTGGGTGTGGCCCGTGGCCCCCACTGGTCAGCACAGGTGGGTCTGAAGGCACCTGTCAGGGTCTCTGCTGGTCGGAGCCAGCACACAGGGGCTGAGCGACACCGACGGCCCAAAACTGTCTGGTACTCGGTGTCGTCCCAGTCCTCACACACAACGTGAGCACGGCGGGACAGGTGTAACCCCCCAGGTGTGGCAGCTGAGGTTCAAGAATGGAAGTGACCCCCAAGCTTGGAGACAGTAGGGTTTCAACCCAGGTGTGTCTGGGGTCCTGCACGGTGACCCATGCCCCAGGCAGGCTCATTCCTGAGTCTCCAGGTGGCTCCCACAAGGAGTTAGGGAAGGAGGCCTCCAGGCTGGCTGTGACCCCTGACCCCGCACTTGCCCACCAGGAGACATTCCAGCCTTTCAGTTCTTCAGACCTTAGGGACACCTGACCTTCGCTCAGCATTCTCCAGAGGACAGAGACAGCCGTCAGGTAAGACTGGAGCCCAGCGGGGGGACCCGGCGGCCCGAGGTGGCGGGAGTGATTCCTAGGGCGACGCAGCTCTCAGGCAGGGCGGCAGGAGCAGCCTCTTCCTCCCTTTGGGGAGGCCACGCTGCGCGCCCACCTTTCCCAAGAGTAGAGGGCGGGAAAGGTCAGACGGGGGAGGCAGGGCCCGGTAGCACGCCGGCCACCCACCTGCCAGGGAGGACGCTGTCCCGGTCATGCAGCACAGTGGCAGCGCGTGTGGTGATCGGTGACCGCCGAGACCCCACGCCTGGACCCCGCGGCCACTCCCCGAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCAAGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTT
Task1_train_23063
This variant affects gene TRAPPC2L (trafficking protein particle complex subunit 2L) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGGACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTTGAGGTGAATGAAGGCCTGTAACTCTTCTCTTTCATTGGAAGAGCCATTTGGGAAAAGCAAGGCTAGAATTCCCCGTAGAATGTTTTGGTTTGCACGTGTCCGTTGTCTGGTTTGCAGAGGAAGTGGGACACTTCTGCTTTGTACCTGCAAGGATTTCTTTCTGTGCTTTTCAGGGGGAGCCACCACCTTTGAGCAGGGGATAATAGTTTCATTTATTTCATTAGGCCTTGCCTCTTATGTCACTAGACACTCGTCTAGTCCCTTGGGACAAATCACTTGAGGCCATGGAATTCAAAGACCTTCCCAAAAGTCATCATGTAGCCTGTCCATGGTGACATTTGCTAGTAGCCACTATTTTACAAAATAATGTGGCCTCTAGAGAGGGGATCCGCCTTGTTCACGAAGCCTCTGGTTTTGCAGTTAACTTTCCGGGCCAGGCATTGATTCATGAAGAGGGTGAGGTGTTCCAGACAGACAGACTCGGAGTCTAGGTGGTTCGGCTCCTGGAGTGTGAACTGGGTAAGGCTTGGCTGCCTGCTCTTCGCTTCTCCTGCAAACACCAGACGTCGCCCTAGCAAAGTATTTAGGCTTGTACCCAGCACGGCCACTGCAGGACCAGCCCAGCATGGGCATTTCCTGTGATTCAAGGTTGCCACATTTCTCCAAAGTGAGGGCCCACAGAGGGCCCTCCACCGGCAGTCCCTGTGTTACGAGTGCCTTCCCTAACCAGCTGTGCAGATACGGCTACGTCACCAACTCCAAGGTGAAGTTTGTCATGGTGGTAGATTCCTCCAACACAGCCCTTCGAGACAACGAAATTCGCAGCGTAAGTCAGGGAGTTAGAGGGCCACGCCCGAGTGGGTGTTTTGTTTTTCCTTTTTGACTTTGTTTTGAAATGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTGGCAAGGTCATGGTTTGCTGGGTCTTTTTCAGATGTTCCGGAAGCTACACAACTCCTACACAGACGTGATGTGCAACCCCTTCTACAACCCGGGGGACCGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTTGCCACCTTCTTTCTGTAGGACATGCCTTGCCATTTTGGTTGCCAAAATGCAACCATTTGGAAAATAAGGGAGGAAAGATCTTTTTAAGCTATGAGCACCATCCCCCTAGGGCAGAGGTTTTAAAGCCACAAAGCCCCGTTTCTCCACACCAACTCTTACACAGATCTCCAGCGCATAAAGTGGATAGAGTGTGTGTGGTGTGGGGAGTAGAGCTTGCCCATTTGGCTTCCCAGGTGTGCCCAGTGGGTACCTGGGGCACCTGCAGGACTCAGGGCCAAGCACATGGGCAGTGGCTTTCAGGGATCACACGTCCTTTTGTAGCTACCTGATCTTTTATGTTGAATTTGGAACAGTCAGGAACCTGGTTTGCAGGTGTCTTCCGAATAGTCCACAAAGTAAACAGATTTAACTTTTGAACATCATGAGGGAAATGTGGGGTCCATGCCCACATTCCAGACTTGCTTTCAGTGAGTCCCCAGTTCCAAGACATAATTCCCTGTGGTTGGCAGGGAAGAGGACGCTGCAGTGATCCAAGGCAGGCCCCTCCCTCCACCAGGACACTGTCTTGGGGCCATCCTGGTCCCAGATGGGAGCAGGCAGGCGAATGTCCACAGTCTTGCCTCCTGGGCTGCACAGGGCCATCCTTGCCACACCACCGCTCTGCCTGCCCATGCTGCTCCCTCCTCCACCCCTTCCTGGGGCCTTGGGAGGCTGCACAGGGAACTTGGAGGCAGCAGATGGGTTCT
CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCCTGGACGGCCACGTGACTCGCGGGGCGGGGCCAGAGTCCGCGGAGGGACGGGAGGCGGGGCCTGGACTGCCTCGTGACCAGTGGGGCGGGGCCTGAGCCAGCTGTGTGCGGATGGGGCGGGGCTTTGGAGGCCGCGTGACCAGCGGCGGGTCACGTGACGCGGTGCCTGGCGCCGAGCCTCCCAAGATGGCGGTGTGCATCGCGGTGATTGCCAAGGAGGTGCGTACGCGCGGCGTGGGGCGTCCGGGCTCGCACCATCCTCGGCTCTCCGCTTTCTTTCTACTTCTTCCCTGGGCTTAGAAGGCACCTTAGGAAATGGGACCTGGAGGAGGCCTTCGCCGAGCTCCAGCGGTCAGGGGCTTCGCGGTGGACGAGCCGCCAGGCAGACCCTGACTGAGACCCCAGTTCCGCGCTCGCCCGTCCCGCTGCTGAACGCACCCCTCGGCGCAGCAGGTCTCCTCCCCGCCAGGACCCACCAGAAACCTAGGTGGTCCCGGGCACTACCTCCGTCCTCCGTCCTCAGCAGGTTCTGCCCGTTCTCCCGTCCAGCGCTGGTTCCCCGCGGACGGCGGCCCCGGCCCTCCTGCCAGTCTCCCCGGAGCCGAGTTAAAAACAAATCGGATCCTGTCACGCCTCTGCCTGAGACCTCTGCAGTGGCTTCTCGTTGCCTTAGGATGCTGTCTGAATAACCTGCTCTGGGATCCTTTCCCCCCATAACCCTTGGCACTCTCCGCTCCAACCAAACAATTCTGCAGCTCCCTGGACATGCTCTGCCCTCTCACCTGTGGGCCTTTGCACGCGGAACACCTCTCCCCAGCTCCCATCCTCTTTACTGGCCCACATACATTTCAACTGGAAAGCATTTTCTGAAGGCTAAGACTGAGCTGGGTGGCTGCCCACACGCTCCTGCTGCACGGAGCCTTCATTTCCTAGCCAGGGTCTCCCGAGACCAGACTCGAGACCGCTCCCTGCTGGGCGGTGGCTGCTGCTAAGCTGCTCATGGGCTTCCCTCTTGGCCAAGATGATCATTTGCTTGTTTGTGGGTTTATTGACTAGGTATCACTCCCCACGAGGGTAGCGAGGACTCTTGTTCACTGTATTTGTGCAGGACCCAGTGCTGAACACACACAGGGTAAATGGTGGTGTGTGAAAGACCGAGAAAGAAGCTGTTAATTCTGGGCTTCCAATGGTCAGAAATGCAGAGATGAAGGGAATTTGAGCTGAGTCTTGAAGGGTTTAGTAAAAGGGTCACTGTCAAGGTGAAGAAAAGCCAGTATTGAGGGTGCTGTATTTGGGTGAGCCATGCAGAGTTAGAGGTGGGCTGAGGCAGAGTGGCCTCCAGGAGAAGGTGAGAGGCGTGCCCAGGTGCCAGGCTTGATCGGCAGGCTGTGCTCAGGCCCATTTTTCTGATTCATTTTTTCTTTTCCGCCCACCCTACTGCTGCTGCTTTGCAAACAACACATAAATCTCCTTAGGTTAGCTGGGATCCCCTGAAGGCAGTGCCCACTGCGGCATAGAGAATGAAGCGGTGGGCCTTAGAGCATGGGAATGCGTTCCCCGGGTGGCTGCAGGTCACGGCTCTGCAGCATAGTTCAGAGCTGGTGTGCGCTGGGTGGAGTCTTGTCCTTTCAGTCGCCGTCATCCTTTCTTGCAGAATTACCCCCTCTACATTCGCAGCACCCCTACGGAGAACGAGCTGAAGTTCCACTACATGGTGCACACATCTCTGTACGTGGTGGATGAGAAGATCTCCGCAATGGGGAAGGCCCTGGTCGACCAGAGGGAGCTGTACCTGGGCCTGCTCTACCCCACGGAGGACTACAAGGTGTATCTTTCAGGGCAGGGTGTGTGTCAGGGAGGACCTACAGTTGCAAGATGTACTTTAGGATCAGATAACTTGAAACCTTTTAGAAGAAAAAGAGGTGAGAGTTTTTAGCCAGCCAGGGAATTAGGGTAGCTTGAGGTGAATGAAGGCCTGTAACTCTTCTCTTTCATTGGAAGAGCCATTTGGGAAAAGCAAGGCTAGAATTCCCCGTAGAATGTTTTGGTTTGCACGTGTCCGTTGTCTGGTTTGCAGAGGAAGTGGGACACTTCTGCTTTGTACCTGCAAGGATTTCTTTCTGTGCTTTTCAGGGGGAGCCACCACCTTTGAGCAGGGGATAATAGTTTCATTTATTTCATTAGGCCTTGCCTCTTATGTCACTAGACACTCGTCTAGTCCCTTGGGACAAATCACTTGAGGCCATGGAATTCAAAGACCTTCCCAAAAGTCATCATGTAGCCTGTCCATGGTGACATTTGCTAGTAGCCACTATTTTACAAAATAATGTGGCCTCTAGAGAGGGGATCCGCCTTGTTCACGAAGCCTCTGGTTTTGCAGTTAACTTTCCGGGCCAGGCATTGATTCATGAAGAGGGTGAGGTGTTCCAGACAGACAGACTCGGAGTCTAGGTGGTTCGGCTCCTGGAGTGTGAACTGGGTAAGGCTTGGCTGCCTGCTCTTCGCTTCTCCTGCAAACACCAGACGTCGCCCTAGCAAAGTATTTAGGCTTGTACCCAGCACGGCCACTGCAGGACCAGCCCAGCATGGGCATTTCCTGTGATTCAAGGTTGCCACATTTCTCCAAAGTGAGGGCCCACAGAGGGCCCTCCACCGGCAGTCCCTGTGTTACGAGTGCCTTCCCTAACCAGCTGTGCAGATACGGCTACGTCACCAACTCCAAGGTGAAGTTTGTCATGGTGGTAGATTCCTCCAACACAGCCCTTCGAGACAACGAAATTCGCAGCGTAAGTCAGGGAGTTAGAGGGCCACGCCCGAGTGGGTGTTTTGTTTTTCCTTTTTGACTTTGTTTTGAAATGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTGGCAAGGTCATGGTTTGCTGGGTCTTTTTCAGATGTTCCGGAAGCTACACAACTCCTACACAGACGTGATGTGCAACCCCTTCTACAACCCGGGGGACCGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTTGCCACCTTCTTTCTGTAGGACATGCCTTGCCATTTTGGTTGCCAAAATGCAACCATTTGGAAAATAAGGGAGGAAAGATCTTTTTAAGCTATGAGCACCATCCCCCTAGGGCAGAGGTTTTAAAGCCACAAAGCCCCGTTTCTCCACACCAACTCTTACACAGATCTCCAGCGCATAAAGTGGATAGAGTGTGTGTGGTGTGGGGAGTAGAGCTTGCCCATTTGGCTTCCCAGGTGTGCCCAGTGGGTACCTGGGGCACCTGCAGGACTCAGGGCCAAGCACATGGGCAGTGGCTTTCAGGGATCACACGTCCTTTTGTAGCTACCTGATCTTTTATGTTGAATTTGGAACAGTCAGGAACCTGGTTTGCAGGTGTCTTCCGAATAGTCCACAAAGTAAACAGATTTAACTTTTGAACATCATGAGGGAAATGTGGGGTCCATGCCCACATTCCAGACTTGCTTTCAGTGAGTCCCCAGTTCCAAGACATAATTCCCTGTGGTTGGCAGGGAAGAGGACGCTGCAGTGATCCAAGGCAGGCCCCTCCCTCCACCAGGACACTGTCTTGGGGCCATCCTGGTCCCAGATGGGAGCAGGCAGGCGAATGTCCACAGTCTTGCCTCCTGGGCTGCACAGGGCCATCCTTGCCACACCACCGCTCTGCCTGCCCATGCTGCTCCCTCCTCCACCCCTTCCTGGGGCCTTGGGAGGCTGCACAGGGAACTTGGAGGCAGCAGATGGGTTCT
Task1_train_23064
Here’s a variant in ACSF3 (acyl-CoA synthetase family member 3) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Combined malonic and methylmalonic acidemia
GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGCCAAGGTGAGTGGATCACCGGAGGTCAGGAGTTGGAGACCAGTCTGGTCAACATGGTGAACCCCTCGTCTCTACTAACAATACAAAAATTAGCCAGGCATGGTGGTGCGCACCTATAATCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCCAGATCACACTACTGTACTCCAGCCTGGGTGACAGACCAAGACTGCATCTTAGATAGATAGATAGATAGACAGAGCGGGTGAGACTCCATCCCAGATAGATAATAAAGAGAGAGAGAGAAAGGAAAAAAAGGTGAGAGAGAGGAGAGAGAGAAAGAAAAGAAAAGAAGGAAAAAAGCATGGCTTACACCTGCCATAACCCCAGGACTTTGGACCAGCCTGGGCAATACAGTGAGACCTTGTCTCTACCAAAAAAAAAAAAAAAAGCTGGGTGTGGTATCACATGCTTGTGGGCCCAGCTACTCGGGAGGCTGAGGCCACAGGATGGCATGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGATTGCATCACTACACTCCAGCCTGGGCGACACAGCAAGACCCTGTCTCAAAAAAACGAACCTTGGCACCTCACCACATTTCCACTGCGCACCAGTGTGGGAAGGGTCTGAGAGAGGCAGCGCCGTGTCTGCCCCGGGGGCGGGGTCTCCAGGCCATGCCTGTTGTGAGCGGGGGCTGTGCTGAGCTCTTCTCTGCACTTCCCCCTCTCACGGGTGGTTTTCCAGGCTCAGGATTCTAAAACCCATTATTCAGATGTACCTTAAGTGTGTTGAATTTTATATGCTTCTCCTTGGTTTTACCTAGTTTATTTCATTGTTTAGAATTTTGTGTGGTTTGGGAATCCTTAAACTCATGAAGTGAAATAGAAAGCTGAGATGCTGGGCACGTACGGAACGTTCCAGCAGTGTGGGTGAGAAAGGCTGGACGTGGCCTGTCTGGTGCGCTGCCTCATGACTGAAGGTGCAGCAGGCGTACCTGGCTGGGTACTGGGGAGGTGTTTTAAATCCTGTCTTGGCCACGTTTGGATGGGACAGTTGGGCACTCACGTCCTGTGCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCTGGAGTATGTCATCTGCGACTCCCAGAGCTCTGTGGTCCTTGCCAGCCAGGAGTACCTGGAGCTCCTGAGCCCGGTGGTCAGGAAGCTGGGGGTCCCGCTGCTGCCGCTCACACCAGCCATCTACACTGGAGCAGTAGAGGAACCGGCAGAGGTCCCGGTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCATGATCATCTACACCAGTGGGACCACGGGGAGGCCCAAGGGCGTGCTGAGCACGCACCAAAACATCAGGGCTGTGGTGAGTGCCGCCTGGCGCCGTGATGGTTTCGGTGACCGCACAGCACTCCGGGTGGGCTCCGGGCCAGAAGCACATCTTTTCATTCGCTTTTCTGTGGAGTCATTCACAGTTGTCACCATCCTGCAGACCCGTGTGAGATACAGGGACGCAGGCCCTCGGGGTGTGGCCGCTGGCCTCACTGGCCACGCAGGACGGCTCTGGGAGCGTCCAGGTGTAGAGGGATTGAGGGGCCGCCGAGTGACCCTGCCAGGACCATGCGGCATGAGGTCAGAAGGGACCACTCACTGCCTGTGATGCTGAGGGGCTTTTCGGAGGCCAGCCACGTGTTAGGATGCGTGGTCAGGACCCCACATACACCCGGGTCTTACTCGTTTTTTGTGTGTCCTGTGACCTCAGTCACATCTTCACAGAACTCTCCAACCACATCACTTACCTGGCATTTGTACAGTGTCATAACGTCTCCTATGCACTTGAAGCAATCAAGTAAAAATGAAAACCAAAAGCCAGGAAGGGGAAGGCAGGAAGTGTACCCCACGGAGTCGTGGGCTGACGAGGCGCCATGAGCACACAGCAGGCTGGGCCCTGGGTGGCCTGCGCCGTCACTCCTGGAAGCGGCGCGCCTGTCGGGAGGGACGGGCTCTGGACTCCTCTGTCCTTGCTGAGGGGAGTGACATGCACATGTGCTTCTCCCTGGAGCCTGTGCAGGCAGCAGGCAGTGTCCTCCGTGAGATTGGACAGAGGATTCAGTGGGCCGTGCCTCACGCTGCTTCTCAGTAAGAGCTGAGGGTGTGCTCTGGAGCCTGGCCTGGGTTCTGTCCCGGCTGAGCAGGTGACGATAATTCACGAATCGGCAGAGCTCTGTGTGGGCAGTGCTGTCACCTGAGCCAGTGGTTGGGCTGGGAGTCGATTCCAGCCTGAATGGCGCTGGGTCCCTGAGTCCCAGGCTTGGGCAGGGGCGGAGCTCTGTCGACCTGGTGTCTGCAGAGCCACTCCCCGACCTTCTAAATTCCCTAAAGCCTCTGGCTGTGTGTGGCGCTGTCCTCTGTCCCCAGGGTAAGTGAGTGACCCAGCAGATCTGCTGTGGTTTTGTCGTCATCTTGAGAGGCTGCTAAAGGGGAGCAACAAAGAGCCAGCCTTCTCCTTCCCCTTCCTCAGTGGGGAGGCCCAGAGCTCCTTTCCGTGAGCCCGAGGTCTGTGTGTGCTGTTGCGGGCCACAGTCTTGCTCTTGCTCTCAGCTGTGCTCTCGTCCCCTGCAGGTGACCGGGCTGGTCCACAAGTGGGCATGGACCAAAGACGACGTGATCCTCCACGTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGCGCTGCTCTGTCCTCTCTGGGTGGGAGCCACCTGTGTGATGATGCCTGAGTTCAGCCCTCAGCAGGTGAGTTGGGGTCAGGGCTCTCGGTTGCACCCTCAGACTAGGCGCCTTTCCCCTGTCGGGGCCAGGGCTCTCAGCCGCGCCCTCAGCCTAAGCGCCTTTCGCTGGTTGGGGTCAGGGCTCTCGGCCGCGCCCTCAGACTAGGCATCTTTTCCTGGTGTGCAGTCGCCCCTATCCACAGGGGACGTGCCAATGCCGAGACCCTGGGTAGCATGGAACCCTGTACCTACGATGCTTTTTGCTATACATACGTACCTATGATAAAGCTTAATTTATAAGTTAGGCACAGTAAGAGGTTAACAATAACAGAACAGTTATAACCATGTACTGTAATCAAGTTATGTGAAAGTGCTCTCTCTCTTCAAAATACCTTCCGGTACTGTGCTCGTCTGTTGTGAGACTGCAGTGGGCCACGCGTCATTGAAACCGTGAATAGTGAGACTGGATGAGCGGAGGTGACTGTACAGGCCCTGCTGCCCGCGAGCTCCTGCGGCTGCGGCGAATGCTCACGCGCTTGGTTTAAAATAATGCGAGTTTGTTCTTACATGCTTGGAGGCCAGGATTC
GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGCCAAGGTGAGTGGATCACCGGAGGTCAGGAGTTGGAGACCAGTCTGGTCAACATGGTGAACCCCTCGTCTCTACTAACAATACAAAAATTAGCCAGGCATGGTGGTGCGCACCTATAATCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCCAGATCACACTACTGTACTCCAGCCTGGGTGACAGACCAAGACTGCATCTTAGATAGATAGATAGATAGACAGAGCGGGTGAGACTCCATCCCAGATAGATAATAAAGAGAGAGAGAGAAAGGAAAAAAAGGTGAGAGAGAGGAGAGAGAGAAAGAAAAGAAAAGAAGGAAAAAAGCATGGCTTACACCTGCCATAACCCCAGGACTTTGGACCAGCCTGGGCAATACAGTGAGACCTTGTCTCTACCAAAAAAAAAAAAAAAAGCTGGGTGTGGTATCACATGCTTGTGGGCCCAGCTACTCGGGAGGCTGAGGCCACAGGATGGCATGAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGATTGCATCACTACACTCCAGCCTGGGCGACACAGCAAGACCCTGTCTCAAAAAAACGAACCTTGGCACCTCACCACATTTCCACTGCGCACCAGTGTGGGAAGGGTCTGAGAGAGGCAGCGCCGTGTCTGCCCCGGGGGCGGGGTCTCCAGGCCATGCCTGTTGTGAGCGGGGGCTGTGCTGAGCTCTTCTCTGCACTTCCCCCTCTCACGGGTGGTTTTCCAGGCTCAGGATTCTAAAACCCATTATTCAGATGTACCTTAAGTGTGTTGAATTTTATATGCTTCTCCTTGGTTTTACCTAGTTTATTTCATTGTTTAGAATTTTGTGTGGTTTGGGAATCCTTAAACTCATGAAGTGAAATAGAAAGCTGAGATGCTGGGCACGTACGGAACGTTCCAGCAGTGTGGGTGAGAAAGGCTGGACGTGGCCTGTCTGGTGCGCTGCCTCATGACTGAAGGTGCAGCAGGCGTACCTGGCTGGGTACTGGGGAGGTGTTTTAAATCCTGTCTTGGCCACGTTTGGATGGGACAGTTGGGCACTCACGTCCTGTGCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCTGGAGTATGTCATCTGCGACTCCCAGAGCTCTGTGGTCCTTGCCAGCCAGGAGTACCTGGAGCTCCTGAGCCCGGTGGTCAGGAAGCTGGGGGTCCCGCTGCTGCCGCTCACACCAGCCATCTACACTGGAGCAGTAGAGGAACCGGCAGAGGTCCCGGTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCAGGATCATCTACACCAGTGGGACCACGGGGAGGCCCAAGGGCGTGCTGAGCACGCACCAAAACATCAGGGCTGTGGTGAGTGCCGCCTGGCGCCGTGATGGTTTCGGTGACCGCACAGCACTCCGGGTGGGCTCCGGGCCAGAAGCACATCTTTTCATTCGCTTTTCTGTGGAGTCATTCACAGTTGTCACCATCCTGCAGACCCGTGTGAGATACAGGGACGCAGGCCCTCGGGGTGTGGCCGCTGGCCTCACTGGCCACGCAGGACGGCTCTGGGAGCGTCCAGGTGTAGAGGGATTGAGGGGCCGCCGAGTGACCCTGCCAGGACCATGCGGCATGAGGTCAGAAGGGACCACTCACTGCCTGTGATGCTGAGGGGCTTTTCGGAGGCCAGCCACGTGTTAGGATGCGTGGTCAGGACCCCACATACACCCGGGTCTTACTCGTTTTTTGTGTGTCCTGTGACCTCAGTCACATCTTCACAGAACTCTCCAACCACATCACTTACCTGGCATTTGTACAGTGTCATAACGTCTCCTATGCACTTGAAGCAATCAAGTAAAAATGAAAACCAAAAGCCAGGAAGGGGAAGGCAGGAAGTGTACCCCACGGAGTCGTGGGCTGACGAGGCGCCATGAGCACACAGCAGGCTGGGCCCTGGGTGGCCTGCGCCGTCACTCCTGGAAGCGGCGCGCCTGTCGGGAGGGACGGGCTCTGGACTCCTCTGTCCTTGCTGAGGGGAGTGACATGCACATGTGCTTCTCCCTGGAGCCTGTGCAGGCAGCAGGCAGTGTCCTCCGTGAGATTGGACAGAGGATTCAGTGGGCCGTGCCTCACGCTGCTTCTCAGTAAGAGCTGAGGGTGTGCTCTGGAGCCTGGCCTGGGTTCTGTCCCGGCTGAGCAGGTGACGATAATTCACGAATCGGCAGAGCTCTGTGTGGGCAGTGCTGTCACCTGAGCCAGTGGTTGGGCTGGGAGTCGATTCCAGCCTGAATGGCGCTGGGTCCCTGAGTCCCAGGCTTGGGCAGGGGCGGAGCTCTGTCGACCTGGTGTCTGCAGAGCCACTCCCCGACCTTCTAAATTCCCTAAAGCCTCTGGCTGTGTGTGGCGCTGTCCTCTGTCCCCAGGGTAAGTGAGTGACCCAGCAGATCTGCTGTGGTTTTGTCGTCATCTTGAGAGGCTGCTAAAGGGGAGCAACAAAGAGCCAGCCTTCTCCTTCCCCTTCCTCAGTGGGGAGGCCCAGAGCTCCTTTCCGTGAGCCCGAGGTCTGTGTGTGCTGTTGCGGGCCACAGTCTTGCTCTTGCTCTCAGCTGTGCTCTCGTCCCCTGCAGGTGACCGGGCTGGTCCACAAGTGGGCATGGACCAAAGACGACGTGATCCTCCACGTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGCGCTGCTCTGTCCTCTCTGGGTGGGAGCCACCTGTGTGATGATGCCTGAGTTCAGCCCTCAGCAGGTGAGTTGGGGTCAGGGCTCTCGGTTGCACCCTCAGACTAGGCGCCTTTCCCCTGTCGGGGCCAGGGCTCTCAGCCGCGCCCTCAGCCTAAGCGCCTTTCGCTGGTTGGGGTCAGGGCTCTCGGCCGCGCCCTCAGACTAGGCATCTTTTCCTGGTGTGCAGTCGCCCCTATCCACAGGGGACGTGCCAATGCCGAGACCCTGGGTAGCATGGAACCCTGTACCTACGATGCTTTTTGCTATACATACGTACCTATGATAAAGCTTAATTTATAAGTTAGGCACAGTAAGAGGTTAACAATAACAGAACAGTTATAACCATGTACTGTAATCAAGTTATGTGAAAGTGCTCTCTCTCTTCAAAATACCTTCCGGTACTGTGCTCGTCTGTTGTGAGACTGCAGTGGGCCACGCGTCATTGAAACCGTGAATAGTGAGACTGGATGAGCGGAGGTGACTGTACAGGCCCTGCTGCCCGCGAGCTCCTGCGGCTGCGGCGAATGCTCACGCGCTTGGTTTAAAATAATGCGAGTTTGTTCTTACATGCTTGGAGGCCAGGATTC
Task1_train_23065
Gene ANKRD11 (ankyrin repeat domain containing 11) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; KBG syndrome
TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGC
TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCCCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGC
Task1_train_23066
This alteration occurs within gene ANKRD11 (ankyrin repeat domain containing 11) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; KBG syndrome
TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGAGGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGCCGACATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAATGGATTAAAAAATGTAGCAAAGTCCCTCTAGTCCACAGACCTCACTCTGTTCAGCACCACATCCACCCTGCCTCGACGAGCCCAGCCCCCCAGTGAGGGTTCTGCTGAGATGGGGCCCGTCGGTGGCAGGGATTCTGTGGGCCACCTCCAAGGTGGGA
TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCCGCACTTTGGGAGGCTGAGGCGGGTGGATCATAAGGTCAAGAGATCGAGACCATCCTGGACATGGTGACACCCCGTCTCCACTAAAAATACAAAAATCAGCCGGGCATGGTAGCGCATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGCCAGAGGTTGCAGTGAGCCAAGATCACACCACCACACTCCAGCCTGGCAACAGAGCGAGACTCCGTCACAAAAAAAAAAAGGAAAATAAAATTTGTCATTGTGTATATGAGAGACATTGATAAAATACATCCCCAAAGAAAGGAAGATCTTTAATGCACAAAGAGATGTTTTCAACTAAACATCTGGGAGCCCCTGGCTGTCACCACACAGCAAAGCCTAGTGCACTGCTCAGAGTGCCCAGGGCTGGGGTGGCGTCAAGGGGGGCACATATTACGAGGGCTCTCGGTGCGAGATCTGGACACCAAGGCAGGAATGTGTTCCAGGCACGTCCCACTGCACAGGATGTGGGGCCTGGGGTCCAGGGAGCCCACAACCTGAGCGCAGTGGGCTCCGAGGAGGAGGGAGGGGCTGATGCAGGCGAGGCAACGGGAGAGCCAGGGGTCCCACATGGACAGGTCAGTGGTGGCTGGAGGATGATTTCTGAGGCAGGAGTCCCTGGCACATGGGCTGCTTGAAGGCAGACAGGAAGAGCTGCCCCAGGGAGAGCCACGGGGCCCTGGCCGCCCACATCCTATGTCCCAGTGGACAGAGCAGGTCAAAGGCACGGGAGCTGCAGGGGTGGGCGGGAGCCCCACAGCAGATGGGCAGGACAGTGACTGTAGTTCTGGAACCCTGAGTCCGGCCCGCCCTGGCCCAGATGAGCGGCACACCTGGGTGCCCGTGTTCCCTTAGCCACCCAGTGTCCCTGCTGTCCCCGTATGACAGCCCCTGGGGCCTGTGCTGTGAAAGCCCTCGATGTGGCAGCCCTGGGGTGCCTGAGAGCAGCAGGTGGAGCCCAGCAGTTTAAACAGAAAATAATGCCAGCGCTGACACCCGTGAGAGGTAGGTAGGGGCAGGTGCTCCAACTGCATGGACAAGTGTTACGGAGGGACTGAGCTGCTGAGGCCCAGCCCAGTGGCCTGAGGGCCTTGCCCGTGCGGGGAGCTGTCTGCTGTCTGCTGCAGCCTTCTTGGCTCCTTTCTGAGGCTCGCCCAAGGCTAGAGGCATGCAAAGGACTCTGTAGCCCCTGCAAGGTGCTGAGCACCCGGGAAGCTCCTGGTCAAAGTGCAGAATCTATCAAGGGGAGGGGAGGCGGGCAGGGTGCAGGCACTTGGACTCATGGGCCTGGCATGCAGACGGGCCCTACCTGGCTCTCCAGGGGCATGTTGTAGACCTCGGAGTCCAGCAGCATCGTGCAGGCGCTGAATGGCACTGCCTGGTTGGCGATGGTCCTGGCCGCCCGGCAGTGAACCCGCAGAATCTCCTGCTCACAGGATACGATCAGCTTCTCCTGAAGGAGGAGAGGAGTAGAGTGAGCTGGGACACAGCCACGCTCCAGGCCCCACTGTCAACACGACAGCCCCTGGGGCCTGCGCCGTGAAAAGCCCTGGCCGTGGCGCCCCCCTGCCTGTGCCAGCCCACTTACCCGCTCGATGCTGTGCTGTAGACGCAGCTTTCCCCGGACGGCCTCCTGCTGCCTGAACAGCTCCTTCAGGGGCTCCGCCAGGGAGGGACGGGGTGCGATCTACAGGCAAAAGGTGAGTGTGGGGGGTCAGCTGGGGCTGTGGAACTGCACGAAGGATATAGTCTGGAGTTCACGGGGGTCCCGACTCAGCCTCCCCACTCCTAGGAGCCTGCCCTGGAGGCCTCCTCCAGTCCCAGCAACAGACACACCAGGAAGCTTCTAGAAACCACTATGTGCTGGACGCGGGAGAGCGGACACCTCCACGGTGCCCCGTACAGCACCACGCAGTGAGGAGATAGTGCAGGGAGAGGCGCGGGACAGTATCTGTGGGCCATCGTGTGCCAAGGAGGGCCTGAAACACCGGCATGAGCACCCAACTGTGCAGAGGAGATACAGCGAGACAGCAGGAGGGGGCTGGGGGTAGGCTGAGCTTCCTGTGTTCACAGGGAGGGCCCATGCACCCCAAATCAGCCTTTCAACCAGGCTGTAACGTGCACAGTGGAATATGAAAGCTGACAACCGAGCCGGTGGTCTTGCAGTGGCTCGGGGGAGGGAAGCACGCACTGGCCCAGGTCCCCGTGGGGGCTGGGGGACTGTGGGCCGGAAGCGCAGGCACTGCACTCCCACCAGCAGAAGGGTTCTCACAGAGGTGGGTCGGCCATTCTGAAACTACATGCATGCTGGAAGTGAATGAGGAAGTAAAGACAGCCGAGACCATCAGGATGAGGCCTCACACTCTTGGAGAAACAAGGCCCACACAGGAGCGGGGAGCCAGGCTGAGCCCCGCAGTGCAGCAGAGACCTCAGGCCCACAGGGAGTCAGGTTTCCAAAGCAGACCCAGAAAGCATGGCCGTGTGCTCGGGGCCACAGCAGTCGTACCAGGGCCACCACTCCCCACAGGTGGACCCACACGGTAATGGCAAGGCGGAGCCGGGTGGCCAAGACCAGCTGGAACATCGAGGGGCCAGTCAGCAACAGGAGCGCACGGGGCAGATGGGCAGGTGGACGCACAAGAGGGAGACCAGGAAGAGCTCCTGACAGCCAAGGCTGGGGCGACTCATGGCATGAGACCAACGCTGGCGATGCCGGGCACCTGCAGGCGGAAGGGGTGGCTCCTGACAGCACAGCTCCAGTTAGCGGACACAGGAGAGGGAGACAGGCCCAGCGCACAGGAGTGACTGCTGCAGACGAGAGCCGTGGACAGCGATGCGCATGGACAATGGGCTGAGAGAAACAGCCTCACGCAGTCTCCACGTCTCTTCCAAGACACACACACACACCACAGAGGGAGAGACTTCAACTCATGGTGGACGGGCCTGACCAGGCCTCCAGGTCACGTCACCTATGACACCAGGAGCAGAAGGCCCCGCCTCACGCCTATAGGCTCCTGCCTAAGAAGCATCATCGCAGGCCAGGCCTGGGGCCTCTGACCACACTGCTGACCGACACTGCCCAGAAGCTCCCAGCCAGGAGACAGGGCACGGGAGGGCCTGCCACAGCGTGGACGCACGGCAGGGTCTCGTCACCTCCACGGCTCCTAAGGCACATTCAGGGGAGGCTGGGCGTGCAGCAGGTGCATAAACCTATCTCTGCTGTTTCTGAACTTTTCTGCCCATCTAAAATCAGTTCAAAATTAATGATTTAGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACAGAAAATGCAAAAATTAGCCGGACGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGTGGAGCTTGCAGTGAGCCGACATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAATGGATTAAAAAATGTAGCAAAGTCCCTCTAGTCCACAGACCTCACTCTGTTCAGCACCACATCCACCCTGCCTCGACGAGCCCAGCCCCCCAGTGAGGGTTCTGCTGAGATGGGGCCCGTCGGTGGCAGGGATTCTGTGGGCCACCTCCAAGGTGGGA
Task1_train_23067
An alteration has been detected in ANKRD11 (ankyrin repeat domain containing 11) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; KBG syndrome
GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTTGTATCTTTCTGGTTTTGTCTTCTCCTTCCTTTCCTTATCGGGGCCATCCTTCTTCTCCTTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGGCTCTCTGTAGTCTCGCTTCTCCCGGGCCCGGCTGTCCCGCCTCCTCTCCTTGCTGTCCTCCTTCACCGTCTCCAAGATGAGCTTGGCCACAGAGTCGCTCTTCATGTCCCTGTAGTCTGTCACTGGCGAGTCCCAGCTGTCCTCCCCTTTGAAATCAAAGGATGAATCGGACAAGTCAGAAAACCACCGATCTCGCTGATCGTCAGAAAGGCTAAATTTGGTGTCTTCATTCTCCAGAAACTGATTTTTGTTACAATATTCGTCAAAAGCAGAATCTTCCCTATAAACCTTTTCTTTTTTGAGTTTTTCTTTATCTTCTTTAAAAATCTTCTCCTTCTCTTTTGAAATTTTGTCCTCTTTTAAATCATTCTTCTTCTCTAATTTTGAGGGCCGGTCTTTTGATTTCTTCTTTCTCTCCTCTTTGTACAGTCTCAGTTTTTCTTCTTTCGGAGACTTTTCCTTCAGCGATCTCTCCTTTTCTGCTTTATTCGAACGGTCTTTCTCTTCTCGGAAAGACCTGCTGATGTCTTTGTTTGTGTCTTTGATTCTCTTCAGTGATTTTTCATCTTTAAAGAGCCATTCTTTTTCTTCTAATTTCATTTTGCTAAGTTTCTCTTCTTTTTTAAAGTGGTCGCGATCGTGCTTTAACACTTTTAGCTTGTTTTCAGTGGAAAGATCATTCTCTAACAGTATAGCCTTATCTGACTTCTGCTTGGAGTCCTCATATTCGTAAGTAAAACTTTTCAACTTCAGCTCTTGGCTGATGGAACACTGTCCCTTCTCCTTGTTTTTGTGTTTGTGTTTTGTTTTATGTTTTTTGACAACTTTCCCCTCCTTGTCCAGTTTGGGGACAGCGCCCTCCGCGCTGGACAGGAAGGGGCTCTTCTTCTCCGACAGGGAGGCTCGCTTCCTGTGCTCCTGCCTCTTCCTCACTGGCTTCAGCGATTCCACACTGGAGCCCTCAGAGGAGTAGTCAGACTCGCTTGTCAGTCTCGTCCTTGTGGAGTCTGATAAAGAACTGACCTCTGACCAAGCCGGGGAAGAAATGGTTTTCCAATTGTCTGTCCGCCAGTGCTTGGTGTGCTGGTCTGTGTGGCTGGGGTTCTGCTTCTGGGCGGCAGAGCTCCCGTGAGACGAGGTGGAGGAGGCAGAGAGGGAGCTGAACAGGGAGGGGTCCTTCAGCACCAGCGGGGACCCCTTGAGGCAGCCAGAGCTCCCCAGAGAGTCCCTGTCATCCTCCCCACTCTCTGAGGACTCGCTCTCCGACTCCGAGGAGCAGAACTTGTCGCTCCGCTTTCCGAAGCGAACCTCTCTGCCTTTTGTTTCTTTCTTTCGCTTCTTTTTCACTTTATTTTTTTCCTTCTGCTGCTTGGCATTAGAAGGCTCTCGTGTCTTACTACCAGGCAATATCGTATGTGCCGAGAGTCTCAGCTTCTCTCCTGTCCCCACGGTGACACTCGCGTCCTCCTCGTCCGACGTGTCTGACAGGATACGATGGGACGCTTTCTTTGGTGCAATCGTGTTATTTTTAGTGTAACTTTTAACCTCCATTTTGGGTATAGAGATAAAACTATTGGATTTCGTTTCTTTTCTGTAGTCCTTTTTCAATAGGTGCTTGTCGTCCACCGGAGGAACCCTGTCCTGCTCGTCGTCCTCATCAAACTCATACTCGTCCTTGACGGGGGCCGTGGCCTTCTGTGGCTCTGGGTTCTTGGCCTTGTGCTTGAGGCCTTTTTCGAACTCGGAGTCCGTGTTGTTGCCGTCGACTGAACTGGAAGGTGCGAAGGATGGTGCGTCTTCCTCTTCTGAGCTCTCTGTTGGAGGTAGGAAGCGAGAGGTCACAGGCAGGCTCAAAACAGCTCTCCCCAGAATGGCAGAGGAGGGAGGCTCTGCAGATGTGTCTGCGGGAAGGTTCCCACCCTGCCTCTGCAGAGACACTTTGCTCGACTCATGGAAACCAGCCACAGGCAGGAGGAAACCAGACAGAGCTCAGCTGACAGACAGGGCTGGCATCTTAGAATGAAGACTGCAGGCTTCTCGGCAGTGACACACCTGGGCGGGGTCTCCCGCAGTCCAGAAGCTCCTGTAAGCCCCCAGCATCCGAGGAGGAGCTGATCAGAGGGGCAACACTGTGCAAACACCACAGGGCAGCTCCTACCATCCCTGCATAAAAGAACAGGCAGCTCAGGTGGCCGTGACTTACCCGTCGAGCTCTCCTCGCTGGAAGTGTAAGTGCCTTTGCCTAACAGGAGGTTCACCATCGTGGGGGAGTTGGCCACTTTCAGCGGCGTCTCGCCTTTCCTGTTGCTCTGCTGCGGGTTCCCTCCGTACCGCAGCAGCAGCTTCACCACCTACAAGACAGTAACACCCGCGTCAGGGACTGCTGGAGAAGCACAACTCCTCTACCGTTCCGCATAACACGGCAGCCCCTTCCGAGAACCCTGGGGTTCGACCCGAGAGCAGCCCCTCACGGTCTGAGGGTGTGGGAGCCGAGCGCCCAGGGACTGCCTGGCGAGGCTCTGGGTGTGGTGGGCGAGGCTGTGGCTCCTCTGTGGGAAGGGCTGCAGCCGCGGGGGCTCCCGCACCCCTCCTGTGCTCTCCTTCAGAAGGGCTCTGCCTCCTTTGGATTTTTTTCCACCATTTCTCCGTTGCCGCAAGTAGACGACTTCCCAGGAATCTTCTCACGAAGGCTCTCCCCTCCCGCCAACAGTGAGCTCCTCAGCAGAGTGGTGCCGGAGTGGTCGTGGAGGGCTCAGGCAAGAGGTTAGGGAGAAGAGTGTTATGGAAAGGGTTGGGGGGACAGAATAGAGGAAACAAAGACCAAGTTTCTGCAAGCTGCTTTATTTTTTATTTTCATTTACATTAGAAAATAATCTCTCCCTTGCTTGATTTTACAAGGGTAAGGGTGGTCACATGACTGACAGAGACAACCATGGTGACACAGCTCTTTTCAGCTGTTCATCACCAGCAACCTGGATTTCCTATGCCCAGAACAGCAATGCACTGAACTCAAGTACAAATTAAATTTAATCCCAACTTTAGTCCAGTCTGAGATTAGCGCATTCAAAGAATCTGTCATAACGTT
GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTTGTATCTTTCTGGTTTTGTCTTCTCCTTCCTTTCCTTATCGGGGCCATCCTTCTTCTCCTTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGGCTCTCTGTAGTCTCGCTTCTCCCGGGCCCGGCTGTCCCGCCTCCTCTCCTTGCTGTCCTCCTTCACCGTCTCCAAGATGAGCTTGGCCACAGAGTCGCTCTTCATGTCCCTGTAGTCTGTCACTGGCGAGTCCCAGCTGTCCTCCCCTTTGAAATCAAAGGATGAATCGGACAAGTCAGAAAACCACCGATCTCGCTGATCGTCAGAAAGGCTAAATTTGGTGTCTTCATTCTCCAGAAACTGATTTTTGTTACAATATTCGTCAAAAGCAGAATCTTCCCTATAAACCTTTTCTTTTTTGAGTTTTTCTTTATCTTCTTTAAAAATCTTCTCCTTCTCTTTTGAAATTTTGTCCTCTTTTAAATCATTCTTCTTCTCTAATTTTGAGGGCCGGTCTTTTGATTTCTTCTTTCTCTCCTCTTTGTACAGTCTCAGTTTTTCTTCTTTCGGAGACTTTTCCTTCAGCGATCTCTCCTTTTCTGCTTTATTCGAACGGTCTTTCTCTTCTCGGAAAGACCTGCTGATGTCTTTGTTTGTGTCTTTGATTCTCTTCAGTGATTTTTCATCTTTAAAGAGCCATTCTTTTTCTTCTAATTTCATTTTGCTAAGTTTCTCTTCTTTTTTAAAGTGGTCGCGATCGTGCTTTAACACTTTTAGCTTGTTTTCAGTGGAAAGATCATTCTCTAACAGTATAGCCTTATCTGACTTCTGCTTGGAGTCCTCATATTCGTAAGTAAAACTTTTCAACTTCAGCTCTTGGCTGATGGAACACTGTCCCTTCTCCTTGTTTTTGTGTTTGTGTTTTGTTTTATGTTTTTTGACAACTTTCCCCTCCTTGTCCAGTTTGGGGACAGCGCCCTCCGCGCTGGACAGGAAGGGGCTCTTCTTCTCCGACAGGGAGGCTCGCTTCCTGTGCTCCTGCCTCTTCCTCACTGGCTTCAGCGATTCCACACTGGAGCCCTCAGAGGAGTAGTCAGACTCGCTTGTCAGTCTCGTCCTTGTGGAGTCTGATAAAGAACTGACCTCTGACCAAGCCGCGGAAGAAATGGTTTTCCAATTGTCTGTCCGCCAGTGCTTGGTGTGCTGGTCTGTGTGGCTGGGGTTCTGCTTCTGGGCGGCAGAGCTCCCGTGAGACGAGGTGGAGGAGGCAGAGAGGGAGCTGAACAGGGAGGGGTCCTTCAGCACCAGCGGGGACCCCTTGAGGCAGCCAGAGCTCCCCAGAGAGTCCCTGTCATCCTCCCCACTCTCTGAGGACTCGCTCTCCGACTCCGAGGAGCAGAACTTGTCGCTCCGCTTTCCGAAGCGAACCTCTCTGCCTTTTGTTTCTTTCTTTCGCTTCTTTTTCACTTTATTTTTTTCCTTCTGCTGCTTGGCATTAGAAGGCTCTCGTGTCTTACTACCAGGCAATATCGTATGTGCCGAGAGTCTCAGCTTCTCTCCTGTCCCCACGGTGACACTCGCGTCCTCCTCGTCCGACGTGTCTGACAGGATACGATGGGACGCTTTCTTTGGTGCAATCGTGTTATTTTTAGTGTAACTTTTAACCTCCATTTTGGGTATAGAGATAAAACTATTGGATTTCGTTTCTTTTCTGTAGTCCTTTTTCAATAGGTGCTTGTCGTCCACCGGAGGAACCCTGTCCTGCTCGTCGTCCTCATCAAACTCATACTCGTCCTTGACGGGGGCCGTGGCCTTCTGTGGCTCTGGGTTCTTGGCCTTGTGCTTGAGGCCTTTTTCGAACTCGGAGTCCGTGTTGTTGCCGTCGACTGAACTGGAAGGTGCGAAGGATGGTGCGTCTTCCTCTTCTGAGCTCTCTGTTGGAGGTAGGAAGCGAGAGGTCACAGGCAGGCTCAAAACAGCTCTCCCCAGAATGGCAGAGGAGGGAGGCTCTGCAGATGTGTCTGCGGGAAGGTTCCCACCCTGCCTCTGCAGAGACACTTTGCTCGACTCATGGAAACCAGCCACAGGCAGGAGGAAACCAGACAGAGCTCAGCTGACAGACAGGGCTGGCATCTTAGAATGAAGACTGCAGGCTTCTCGGCAGTGACACACCTGGGCGGGGTCTCCCGCAGTCCAGAAGCTCCTGTAAGCCCCCAGCATCCGAGGAGGAGCTGATCAGAGGGGCAACACTGTGCAAACACCACAGGGCAGCTCCTACCATCCCTGCATAAAAGAACAGGCAGCTCAGGTGGCCGTGACTTACCCGTCGAGCTCTCCTCGCTGGAAGTGTAAGTGCCTTTGCCTAACAGGAGGTTCACCATCGTGGGGGAGTTGGCCACTTTCAGCGGCGTCTCGCCTTTCCTGTTGCTCTGCTGCGGGTTCCCTCCGTACCGCAGCAGCAGCTTCACCACCTACAAGACAGTAACACCCGCGTCAGGGACTGCTGGAGAAGCACAACTCCTCTACCGTTCCGCATAACACGGCAGCCCCTTCCGAGAACCCTGGGGTTCGACCCGAGAGCAGCCCCTCACGGTCTGAGGGTGTGGGAGCCGAGCGCCCAGGGACTGCCTGGCGAGGCTCTGGGTGTGGTGGGCGAGGCTGTGGCTCCTCTGTGGGAAGGGCTGCAGCCGCGGGGGCTCCCGCACCCCTCCTGTGCTCTCCTTCAGAAGGGCTCTGCCTCCTTTGGATTTTTTTCCACCATTTCTCCGTTGCCGCAAGTAGACGACTTCCCAGGAATCTTCTCACGAAGGCTCTCCCCTCCCGCCAACAGTGAGCTCCTCAGCAGAGTGGTGCCGGAGTGGTCGTGGAGGGCTCAGGCAAGAGGTTAGGGAGAAGAGTGTTATGGAAAGGGTTGGGGGGACAGAATAGAGGAAACAAAGACCAAGTTTCTGCAAGCTGCTTTATTTTTTATTTTCATTTACATTAGAAAATAATCTCTCCCTTGCTTGATTTTACAAGGGTAAGGGTGGTCACATGACTGACAGAGACAACCATGGTGACACAGCTCTTTTCAGCTGTTCATCACCAGCAACCTGGATTTCCTATGCCCAGAACAGCAATGCACTGAACTCAAGTACAAATTAAATTTAATCCCAACTTTAGTCCAGTCTGAGATTAGCGCATTCAAAGAATCTGTCATAACGTT
Task1_train_23068
This variant affects gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary spastic paraplegia 7
GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGCTGCACTCACTGCTCGGGGTTTTGCAGTTCTGTTCACCTGCTATTGGTTTTCCTTTTATCCTGGGTATCAGTCTGGTTTTTATAGCAAATCCTTTGAAACAAAATCCAGGAGGAAAAATTGTGGGAAACTTTATTCTTGTGTGGCATCACTTCCTTCCATCCGTAGCGTGGGCTCTGGGGACGTGGACTGTGCAGCTGCCCTGAAATTGGGGTGGGAGTAGAAGTCCTGAGGCCTCTCGCCTGATCCCTCCTCTGTCACAGGGCTCTGGTTGGACGTTACACTTCCTGGCCAAAGGGCCTTTGTTGCTGCCCTGAGGGAGCAGGAGTTCAGCTCATGGAGCGGAGGGTTTGGAGAGAGGGCCTCCGGGTCTGCTGGTGGGTTAATGTTCCATCAGTGCAGCCTGGGGAGCAGGGCTGGGCTCAGCGGCTCTCAGCCGGTGCTCAGTCTCTGTTGGGATGGAGAGTGAAGGGCGGAGCAGAAGCCCTTCCCGCTGGGACACGGCTTCTCCAGGGGACACTGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACGGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACTGTTTCTCCAGGGGACACTGTTTCTCCAGGGGATGGCAGCTTCTCCAGGGGACACGGCTTCTCCAGGGGAGGGCAGCTTCTCCAGGGGAGGGCGGCTCCTGGCTTTTTGACTGTGTAAGAAACATTTTACATCAGGATTTAGACGCATGGAACATGTGTGGGAATTGGAAGTTTTGCAGAATAAGCATTTGCTGTGTGTGACGTGCTTCATTAGCTATTCTGCTATAATTTTTTCTTTTTTCTTTTTAATTTTTCTTTCAATTTTTAGAGAAAGGGTGTTGCGCTGTCACCCAGGCTGGAGTGCAGTGCTGCGATCACCACTCACTGCGGCCTCAACCTTCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGGGCCCGGCCATCCAACAGTGTTCTGTTCGTGTTTAAAATGCTGCTTGTGGCCAGGCATGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTAGCCAACTTTGCGAAACCCCGTCTCTACTAAAAATACAAAACTCAGGCATGATGGCACACACTTGTAATCCCAGCTACTTGGGGACCCCCCCCCCCCACAGACAAACATGCCGCACCTGTGGCAGTAACTAGGCTTGAGCCCGACTGTCTTTCCTCCCCTGGTTCTGGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGTACGTTCTCAACCCGCAGCCTGGGCAGCGTCACGTCCTGAGGGCAGGTGGTGTCACCTGCGCAAACAGCATCGAGGCCTCCTCTGTGGGGTGGGCGCTGCTCCTTCTCTGGGGGCCTCTGCTCAGTACAAGCCTGGGAGGGAGCTGATGTGTATGTGGGGCAGCAGGAGGTCCAGACGGCACCCGCACTCCGTCCTCCGCCCCGGGGTGGAAAAGCAGACGGTGGTTCCCGGTCTGTGTTGTTTCCAGAGATAGTGGAGTTATGTTGCTTCCACACAGTGACCAGTCATGCCGGCGTTTCCCGTCAGACCCAGAGTCAGACCACGCAGTCCCGGCAAAGCCGCCTCCCTCTGACCCTCACGGTCTCTGTCAAGTTGTAGAAATAGAAATCATACCTCAAGATGCTTTTCCTGCTGTGTGGTTCACATTTTAAAAGTTAATGTCAACAAACCTCCCTTTTATTATGAGATGAATTTGCCCTTTGATTATTCGTTAGGGTCTTTCACTAGAATTTTGTGGTTACTAGAGAGCCTTTAATTTCTTTGCCATCAATGCTCATGAGCTGTTAGGTGGAATCAGCCACAAGATGGGGTGTGGAACTAACTGCCCTTGGGAGGAGAGACGGGCGTCAGGGCGGATGGAGCCTGGCGGTTCTGTGTCTCGTCTGTGGAATGGCCTCAGTGGAACACGGTGCAAGTGCCTGCCGCTCTCCCCACCCCTGCTCCTGGCGCCGGCGCCTGCCGCTCTCCCCAGCTCTGCTCCTGGCGCCAGCTCCCCGTGCCTCTCTCCCAGACGCTCTCACCAGCACTCTTGGTTCTTGGTCTCTTTTCCCTCTTTGTTCTTCCTTTTATTTATTTACTTATTTATTTTGAGACAGAGTCCTACTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCCCCGCAGCCTCCGCCTCCTGGGTTCAACCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGCAATAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCCGGCCATCTTTGTTCTCCCTTGAGGGCCCCTTCCTCCTCTTAAGCCCTGATAGCAGAAACCCACCCACCCACACCGTGGCTGTTTGTGTTGACAGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGTACAGGGGGCGCGCCCTGGGTGAAGGCCCTCCTTAGCAGGGCTTGAACCCCAGAAATACCCAGGCAGGTATTGAGAGGTGAGGTGGATGGAACCATCACACAGGAAGGAACACACGTTGCGTTTCAGTTCTGCGTAACTCATGTCTTTATGATACCTTGTACTTTTCCTTAGTTTAAAATATCACAGATTTACCTAAGAGTAGACGCTCGTCCAACAGAAATAAAAAATGCCTTGCCAAAGAAAGTGAAAAAATAAAAATAAAAAATGCCCCCCAAAAATAAAAATAATAAAAACTAAAAATGTCTTGCCAGCCTGGGTGTGGTGGGCTCAGCCTAGCCCCAGCCTCATGGGGGCTGAGCTCCAGCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGAT
GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGCTGCACTCACTGCTCGGGGTTTTGCAGTTCTGTTCACCTGCTATTGGTTTTCCTTTTATCCTGGGTATCAGTCTGGTTTTTATAGCAAATCCTTTGAAACAAAATCCAGGAGGAAAAATTGTGGGAAACTTTATTCTTGTGTGGCATCACTTCCTTCCATCCGTAGCGTGGGCTCTGGGGACGTGGACTGTGCAGCTGCCCTGAAATTGGGGTGGGAGTAGAAGTCCTGAGGCCTCTCGCCTGATCCCTCCTCTGTCACAGGGCTCTGGTTGGACGTTACACTTCCTGGCCAAAGGGCCTTTGTTGCTGCCCTGAGGGAGCAGGAGTTCAGCTCATGGAGCGGAGGGTTTGGAGAGAGGGCCTCCGGGTCTGCTGGTGGGTTAATGTTCCATCAGTGCAGCCTGGGGAGCAGGGCTGGGCTCAGCGGCTCTCAGCCGGTGCTCAGTCTCTGTTGGGATGGAGAGTGAAGGGCGGAGCAGAAGCCCTTCCCGCTGGGACACGGCTTCTCCAGGGGACACTGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACGGCTTCTCCAGGGGACATGGCTTCTCCAGGGGACACTGTTTCTCCAGGGGACACTGTTTCTCCAGGGGATGGCAGCTTCTCCAGGGGACACGGCTTCTCCAGGGGAGGGCAGCTTCTCCAGGGGAGGGCGGCTCCTGGCTTTTTGACTGTGTAAGAAACATTTTACATCAGGATTTAGACGCATGGAACATGTGTGGGAATTGGAAGTTTTGCAGAATAAGCATTTGCTGTGTGTGACGTGCTTCATTAGCTATTCTGCTATAATTTTTTCTTTTTTCTTTTTAATTTTTCTTTCAATTTTTAGAGAAAGGGTGTTGCGCTGTCACCCAGGCTGGAGTGCAGTGCTGCGATCACCACTCACTGCGGCCTCAACCTTCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGGGCCCGGCCATCCAACAGTGTTCTGTTCGTGTTTAAAATGCTGCTTGTGGCCAGGCATGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTAGCCAACTTTGCGAAACCCCGTCTCTACTAAAAATACAAAACTCAGGCATGATGGCACACACTTGTAATCCCAGCTACTTGGGGACCCCCCCCCCCCACAGACAAACATGCCGCACCTGTGGCAGTAACTAGGCTTGAGCCCGACTGTCTTTCCTCCCCTGGTTCTGGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCCGACACCAGGATTCAGTGGTACGTTCTCAACCCGCAGCCTGGGCAGCGTCACGTCCTGAGGGCAGGTGGTGTCACCTGCGCAAACAGCATCGAGGCCTCCTCTGTGGGGTGGGCGCTGCTCCTTCTCTGGGGGCCTCTGCTCAGTACAAGCCTGGGAGGGAGCTGATGTGTATGTGGGGCAGCAGGAGGTCCAGACGGCACCCGCACTCCGTCCTCCGCCCCGGGGTGGAAAAGCAGACGGTGGTTCCCGGTCTGTGTTGTTTCCAGAGATAGTGGAGTTATGTTGCTTCCACACAGTGACCAGTCATGCCGGCGTTTCCCGTCAGACCCAGAGTCAGACCACGCAGTCCCGGCAAAGCCGCCTCCCTCTGACCCTCACGGTCTCTGTCAAGTTGTAGAAATAGAAATCATACCTCAAGATGCTTTTCCTGCTGTGTGGTTCACATTTTAAAAGTTAATGTCAACAAACCTCCCTTTTATTATGAGATGAATTTGCCCTTTGATTATTCGTTAGGGTCTTTCACTAGAATTTTGTGGTTACTAGAGAGCCTTTAATTTCTTTGCCATCAATGCTCATGAGCTGTTAGGTGGAATCAGCCACAAGATGGGGTGTGGAACTAACTGCCCTTGGGAGGAGAGACGGGCGTCAGGGCGGATGGAGCCTGGCGGTTCTGTGTCTCGTCTGTGGAATGGCCTCAGTGGAACACGGTGCAAGTGCCTGCCGCTCTCCCCACCCCTGCTCCTGGCGCCGGCGCCTGCCGCTCTCCCCAGCTCTGCTCCTGGCGCCAGCTCCCCGTGCCTCTCTCCCAGACGCTCTCACCAGCACTCTTGGTTCTTGGTCTCTTTTCCCTCTTTGTTCTTCCTTTTATTTATTTACTTATTTATTTTGAGACAGAGTCCTACTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCCCCGCAGCCTCCGCCTCCTGGGTTCAACCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGCAATAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCCGGCCATCTTTGTTCTCCCTTGAGGGCCCCTTCCTCCTCTTAAGCCCTGATAGCAGAAACCCACCCACCCACACCGTGGCTGTTTGTGTTGACAGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGTACAGGGGGCGCGCCCTGGGTGAAGGCCCTCCTTAGCAGGGCTTGAACCCCAGAAATACCCAGGCAGGTATTGAGAGGTGAGGTGGATGGAACCATCACACAGGAAGGAACACACGTTGCGTTTCAGTTCTGCGTAACTCATGTCTTTATGATACCTTGTACTTTTCCTTAGTTTAAAATATCACAGATTTACCTAAGAGTAGACGCTCGTCCAACAGAAATAAAAAATGCCTTGCCAAAGAAAGTGAAAAAATAAAAATAAAAAATGCCCCCCAAAAATAAAAATAATAAAAACTAAAAATGTCTTGCCAGCCTGGGTGTGGTGGGCTCAGCCTAGCCCCAGCCTCATGGGGGCTGAGCTCCAGCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGAT
Task1_train_23069
Consider a variant on Chromosome 16 in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). Determine its clinical classification and disease relevance.
Pathogenic; Hereditary spastic paraplegia 7
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
Task1_train_23070
Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Hereditary spastic paraplegia
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
Task1_train_23071
Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Inborn genetic diseases
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAGACCCGCACTGTCAGTGTGAGACAGGTTGAACGTTTGAAAAGGGAAGTGGTTCTTGCCCCAGGTGTTTGAGGAGCACGAGCCTCCTTTGCGAGCTATCCCTGCGAGAACCGAGTTCCTCACCCTCAATTCGAGTGAATTCCTAGCACGAACACGCCTCTTGCAGGTCCCCAGGGCTTCAGCTTGGGAAAGCAGTGGGTTCCTGCAGAGGAGTGGGGCAGCTGCTGTGCCAGACACTGCAAAACACACCTGGCTTCTCTCCGACAGCCCTGCGGGTCGAGAGGACTGGCGCTGCCTGTGTCTTACTGAAATTTATTTTCGTGTAACCATTTACTTTTATGTGGAAATCGAAAAGCTTTTGATAATAGTAGCAAAGCAGGAAGGACTGAGTGGGAACCACAAGCCAGTTGAAAGAAAATACATGACGTACTTGAGTGCTCAGGACCACGAGCTGATTCAAGTTGTACAGAATGGACACTTACAGATGTGTGGAAAATCTGAGACAGGAAATGAAGCCTCACCAGTAAGCTGAACAGGGGAGATTTAATGCAAACATTTGTCCCTGGCTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGCTGAGGCAGGAGGGTTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAATACAGCAAGACCCCATCTCTTAAAAGAAAAGAATAAAGAGTATTAGCCAGGCATGGTGGTGGAGCACACCTCTGGTCTCAGCTACTCAGGAGGCTGCAGCAGGAGGATTGCTTGAACCTGGGAGGTTGAAGCAACAGTGAGCCGTGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACCCTGTCACTGACAGAAAAAAAGCCTTGTCCCTGAGGCAAAAAGCTTCTGAAGGGGTGAGTAGAAGCCATAAGGATCCAGAAAGTGATGGGGATGGGAGCTGCGCCTCCAGGTCTGAGGGGAGAGGGAAAGTAAGCAGGAGGCCCGTAACTCAGAGGAGGCCTCTGCCCATCCTGCCAGGGAGAAAGTCAAAAGCTGCTGTTCTGTGACCCTTGCCCCGACCCTGTGGCACCCCCCCAACCATGGGGCAGGAGGAGACACTCCTCAGAGGGTTGCACTTGTTCCTAAAAGCAGCAGGAGCTATTTCGATGATTGCAACATTTATAAAAGAAGAAATCACGACCTCCTTCAACAGCCCTTTGACCTGAAGAGTGTCGTTTTGAGTTGGGGTGTCCAGAGCCGCAGCTGCAGCTCCAAGAGGCAGATGTGCAGAGAGAGGCTTGCTTTGACCACACGGGGCAGGAGCAGGGCCCAGCCAGGGAGAGGCCGGGGTCTCAGCTCACCCCCCCGTCATTCTTTTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCCTGGAGTGCAGTGGCATGATCTTGCCCTACTGTAACCTCCGTCTCTCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCATCACACCTAGCTAATTTTTCTATTTTTAGTAGGGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGTCCTCAGGTCATCCGCCCGCCTTGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAACTCATACCCCGGCATTCTTTCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGTGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTGGGTCTTGGCAGGTGCCGGCTCCACGGGCCTTGGCCAAAGGTGGGTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGCTGACTGGGGAGTCCCGCCTGTGTCTGTAGGTCATGTGAGAGGAAAGCCTGCCACTGTCATGATCCATGGAGCAGGGTGGGTGGCGACTGATGGGCGGGAACTCGGACGTGGGAGGCAGGAGTGGGCTGTGTCACATCGGAGCATGGTGCTGCTACTGGGGTGACTCGTGGAAGGTTACACCATGCAATGGGGTTTCGCTGCCTTTGCCTGTCCACCCCAAATGACTCCTAACATTGGAAAGAAGTGAGTTGAGTGTACATTTAAAAAATACTATTCTAGGCTGGGCATGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGCAAAACTGTCTCTACTTCAAACAAACAAACAAAAAACTACTCTTGTAGGCAGCTGTGAACTCGATGGACATTTATTCTTACCAAATGGTGATGTTACAGCTTCTCTAAGACGTGGCTCCACCACCGGGAGTCCGAGTGCTGCCAAGAGGAGGTCTCTACTCGGAACGCAGGTGCCGTCTTTACAGTGGAGCCCCAGGAAGCCGTGCAGGTTTGAGGCTCACCTGAGAAGGCGGCAGTGCTGTGTTCCTACCTCAGGGTTCACTGCAAACAATGCATACGCTGTAGCAGTTGCCAGCTTGGTTTGTCAGTGCTGGTCTCCGTGATTGGTTCTCAGGTGTGAGTTGTAGCAAAGTTGCGTGTTAATCAGAGAGCGTCCTGCCCATCCCAGGGTCTCAGCAGGGCTGAGGCAGCGTTTGGGGACCAGATCCGTGCTGCTCCTTGGCGATGTGCACCACAGTCATGGGACCAGAGCTAGGCCCACTGTGGGGCGAGTGGACACTCAGCTGGGGGTCCCATTTATGGGACACTAAAAAACTCAGCAGTGAACACGACGTTTTAACACGGTATGTCAAGAAATCAAAATTAATGCAGGGACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACCAAAAATACAAAAGAATTAGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGC
Task1_train_23072
Here is a mutation in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hereditary spastic paraplegia 7
GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAG
GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGAACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAG
Task1_train_23073
Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Hereditary pancreatitis
AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCAGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
Task1_train_23074
A variant was discovered on Chromosome 16, affecting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hereditary spastic paraplegia 7
AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCAGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTT
Task1_train_23075
This is a variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Hereditary spastic paraplegia 7
GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTTAGACTGTCGTCCCCAGCCAGCAGCAGCCGCCTCTGGGCAGGTGTGGGCGGTGCCGTCCCCG
GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGAGTGATTTTTATATTTTTTGTAGCGAAGGGGTCTCGTTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCATGCAATCTGCCCACCTCTAACTCCCAAAGTACCGAGATCACAGATGTGAGCGACCCCGCCCAGCCTAGTTTTAGATTTTAAATTAAGCGTCCTCGGGATTCTCAGAGCACTTGGATGTGGCCATCTCGCCGCCACAATTCTCAGAAGCAGCAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCCGGCAGTGTGTGAACAGGCACCTGTGGTGGGAACGCTGCTGTCTCTGGGCTGGCCATCTAGAGTGTTAGGATCCCCTGTTGTTGTAGAGGATGCTGCACATTTGCCTTCCTGCTTTGAGACGCTTTAATGACGGAGACCTCTTAGTCCCACACCTTCCTCCTCAAAGCCCACGCATCCTGCCTACTGACCTGGGTCATCTTGACCTTGTGCCAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGTGAGGAGCAGCGGCGCGGGCCCTGGAGGTTTCAGAGCGCTTTTCCCTGCATGACTCCTTCTGTTCCAGTGCATGCCATGGGGTGAATCTGGTGTAGACGTAGCTTTGAATTTATTAAGTATTTTGTAAAAGATAAGTTGTGGTCATAAGAGAGTTGGAGCTAAGCAAGACTTCTTAGATAATTTAATTGGACAAAAACTTAACCTATATGCCAACTCTAGACACATTTAATTGGTTAATTGTTGGTAATGGCTACAGGAAACGGAATAAAATTGAAGCGGCTTCATTGTTCTGAAGCCATTACTGCACTGGGATATCCAGAGAGCTGAAGGAGGGTCCCGGGGGCCCCTGGGCTCCAGGTCCATGGGTTTGCCTCGCATAGGCCTGGGCTTGTGCTTGAGAACTGCCATGCAGTGAGCTCCAGTATGCCCCCGGGTTCTAGATTTCCAAATAAAAGAGCATTTCGGAAAGTTTTAAGACTCTCTTAAGGAACAGTGGTGAGGTGCCAACGTCCTCACTGTCCAGCTTCACGGTGGGTCCTCGGGAGGAAGGGGATGGAGGTGGTGCTGCCTCAGTGCTCTGACCGGGACACCTGGGGCCCAGCACTGCTCTGCGCCTGCAGTGCTGAGGATGCCTCTGTCTCGACCCCGCCCTCCAGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCACCCAAGGCCTGCAGCAGATGATGGACCATGTGAGTCGGCTCTGGCCACACCGCTGCCCTCTGTGCTCCCCGGGGAGGGAGTCCCTGGGTCTACCACACAAGGGTCGCCCACGGCCGCCCCAGCGGAGCTCAGCTGCAGGCCCCACCTGGGTTTCTTCCTTCTGGGCTCTGCTGTAGTTCCCACCTGTGGAGTATTTTCTTCTCAAATGAGGACATAGATGCTCCTAATGAAATTATAGATGTGAATCTGGGAAGAATATCAAATAAATACACCGAGCAATAGACCCAGGGCCCACATGTCCTTCAGACTGGGCCAGGAAGGGCCGATGTGTGCCTGTGAGGCAGCTGTGGGTGGGTGTGGGTGGGTGGGCTGGCATGCGGAGCCCTGCTTTCCTGGCACTGGTCACAGGGGCAGGAGACCACCTGTCGGCTGAGGAGTCCTGTTCCTCCTGGGAGGGGAAAGGCCGTGTTCCCAGTCTGCCATTTCTTTTCTGTGCTTTGGTGCTGGAGCCAGGCGGCCAGCCTTGCCCCTGACACAGTTCCCTCCACTCACAGGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGGTGAGGCCCTGGCCAGGCGTGGGGGCTACGGCGTCACACAGTGTCCACACAGCACCCACGGTCCCCACCCCTCTCGTGAAGTATTTCCAAGGCACACAGAGTACAGAGAACACTCTGACCGATGTGAATTCTACCCAGCTCAACTGAAACTTACGTGTTCCATACTTTTTATCCTGAACTCGTCAAGTGTGTTCCCCCGAGGTAGAAAGAAGGCTGCCACAGTCTCCTGTGCCTCTTCCTGCCATTAGCAATTACCAATGTTTTGTCAGTTTTGTTTAATCTTTTCCCAAGTCTTACACTTTTTTCTTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTTACCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACAGCCCCACGCTGATTATAGTGTTAGATGTAGAAAAGTTGCAGGCGCGGTGCAGAGAGCTCCCTGCCACCCTGCCTCGCTCCCGTGGAGGCCCCCATGGGGCAGTCCTCCCACCTGAGGAGCCCCCGCCGACCCGCGGTGTTGGGTCCACACGTGATTCAGATGTGCTGAGTCTCCCCAGTGTCCTTTCCGGTCTTGGGAGTCCACATGGCGTTTGATCGCCCATCTTCTTAGGCTCCTCTGGGGTGACAGTTCCTCAGACCTCCCTTGTTTTGAGGGCTCTGGCAGTTTTGAGGATTGGTCTCATGTTTTGTAGGACGTTCCTCAGTTGCGATTGTCTGATGTGTTTCTCACAGTGGGCAGAGCTGGAGTGAACGTTTTTGTCCCTGGGTTTGGTAACTGCTGCTTAGAACTCAGGAGAGGTGCACGGCTCTTTGTCCCATGTTGTGAACAGATGGGTAGGCAGTGGATAGGTAGTTGTTTCTTCAGCCTCCCCTTGTGTCTTTCAAGCGAGCACTGTGTGTCACGTGGGGATCGTGTTTGGGGCCCTTAGACTGTCGTCCCCAGCCAGCAGCAGCCGCCTCTGGGCAGGTGTGGGCGGTGCCGTCCCCG
Task1_train_23076
This variant affects gene RPL13 (ribosomal protein L13) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCC
TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGACTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCC
Task1_train_23077
This mutation occurs in RPL13 (ribosomal protein L13) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCCTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
Task1_train_23078
Located on Chromosome 16, this mutation impacts RPL13 (ribosomal protein L13). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Spondyloepimetaphyseal dysplasia
TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCTTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGAC
Task1_train_23079
The following genetic variant occurs in RPL13 (ribosomal protein L13) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGACTTGAC
CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGTAAGGCCCGGCAAGCCAAGGCGCGCCGCATCGCCCCGCGCCCCGCGTCGGGTCCCATCCGGCCCATCGTGCGCTGCCCCACGGTTCGGTACCACACGAAGGTGCGCGCCGGCCGCGGCTTCAGCCTGGAGGAGCTCAGGGTGAGTACTGGCAGCGCTGCGGTGTCAGGAAGGCCCCGAAGTCCCCTCTGTTGGCCTCAGTCGCGTGATGACATTCTCCGGAATCGCTGTACGGCCTTGATGAAAGCACATTTGAACCCTTTTCCATCTGATTGCTGAGGCTTTTCATCCAGGCCTCGGGGCTGGAGAAAGCCCGGGCCTGTCTCCATCTCTCTCTGGTTCTGGGGCAGGTGGCCGGCATTCACAAGAAGGTGGCCCGGACCATCGGCATTTCTGTGGATCCGAGGAGGCGGAACAAGTCCACGGAGTCCCTGCAGGCCAACGTGCAGCGGCTGAAGGAGTACCGCTCCAAACTCATCCTCTTCCCCAGGAAGCCCTCGGCCCCCAAGAAGGGAGACAGTTCTGTGAGTACACGGCTCTCTGGCCGTCCTGGTGCGCGGGGACAGTGAGGCTTGGCTCCTTTATCAGTGACACCGGTCCCTGGGTCTTGCTGGGGTGAGAAGAACCAAAACATTGTGGGTGATGAGCTAAGCGGGACTGCTAAGGTTCACCTGTGCGTTTCCGCAGAGATAACCTTAATGGACATGGCAAGGCTGTGTGACTTGGAGGCAGCTTTTTCCATTGACGTTGCTCTCCCTAAAATGCTTCGTATTCCAAAATATTTCTAGAAAGACCTTGTAGGATAAGGTTGATAAAGAGTCCATTGTATACGTTTCCGGGTAGTTAAATTAGGGAACAGTTTTCTCTGCCCCGCCCGTGGTTCACAGGTAGATAACTGTCTCGTGCGTGTTGCGTCAACTCAGTAAGATATAGTCACCTAACTAATAAGGACTGTTCTTAACATTGGGGCCACAAAGTGTGTTGTAGAAAAGGCTCAGACACTGGTCCTGAACACGGAATCCCCAGGGGAAAGTTTGGGGCCAGGTGAGGGTGGAGTCCTTGCAGCAGTGCGGCCAACCCCACTTAACTCTTCTCATTCACCAACAGGCTGAAGAACTGAAACTGGCCACCCAGCTGACCGGACCGGTCATGCCCGTCCGGAACGTAAGTGAACACTTACTCAAATCCAGGCTTCAGACGAGATCAGTGGGTGAACACGTGGGTATCTGAGATGCGGGTGATGGGGGTCAGGCTTAAGAACGTTAATAGTGGCAGTTGTGGGTGTGGAGGTTTGCGGAAAGGAACATTTCTTCTTAGTTTTTACTTCTTGCAACCATGAAGCCATACATTGGGAAGTATTTTTGTTTGTTTTGTGTTTTTTTGTTGTTGTTGGAAAGAGAGTTTCTCTATGCTGCTTACATTGGTTTTGAATTGCTGGGTTTACAGGCTTGAGCCGCCATGTCCAGCTCAGGGAGGGTTTTTCTTTTTTTTTTTAAATCCCAGGGAAGGTGATTGACTCAGGGTTGCTTTTCAGCAGTACTTATGGCAGCGAACCTGACCCCCAATCCCCGGGAGGTCCTCCAGGTTCTCCTGACGCTTGGTTGTTCCCTTGCCCTTTGGTGCATGTGGGTTTAACAACCTGTCTTTCTCTTCTAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGCCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGACACACGCCTGTAATCCCAGCTACTTGGTAGGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGCTGCACCACTGTGCTCCAGCCTGGGTGACAGCGAGACTCAGTCTCAAAAAAAGTTGTACAAGGTGGATGGTTGGAAGCTTGAGCCTAGGCTCGAATCCCTCTCACGTGAGAGGGCCTGAAGATTTCTGGTGGATTCCAACCTGGCTGAAGACTGGCCGTGGGGGGTGCAGGGGTCTCCAGCGCTCTGCCCTCCAGCCTGCTTCCTCCCTGCCCACACCGCACTAGGGGAAGGGCCTTTCCTGCTGCCTGCGGGGCCGCACCTGGAGTAGGTAATGCCATGTGGTGACGTGAATGGAGCAGAGGTCTGTGCCCCATCACACCGCCTTGCTGTTTTTACTGTGGGACAAAAGCACTCTGATCTGCGTGTTCCGGGGGCCCTCCTACCAGCCGACTTGAC
Task1_train_23080
A mutation in CHMP1A (charged multivesicular body protein 1A), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Inborn genetic diseases
CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGGGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGAGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
Task1_train_23081
Given this context: Chromosome 16, gene CHMP1A (charged multivesicular body protein 1A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not specified
CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGGGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGTCTCCAGGACTGCTGTGCCCTCCTGGCCCACCTGCACTGTGTGAAGGAAATGCCTGCAACAGCCAAGGCTCTGCTGTGACGTCCCTGACCCAGCAGATGAGCCTGGCCATGCAGGCTCTGCCTCTTGTGGGAGTTGCCAAGACCGAGGCCTGGCCAGGTACAGTGACAGTGAGTGGTTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATTGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAGATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAGTCTCTAAAAAATATATATTTAAAAAAAAAAAAGCCCAAGTCTTATCAAGAGGTCCTTCCTGGGGCATCAGTGCAAGCTCAGGGTGCAGCCTCACCTGTGTCCCTGCCAGCATTTCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTCCCCACCCCACGCTGATCCAGCTTCCCTCAACCTCCCCACCCCGCGCTGATCCACCTTCCGTCAACTCTGAGCTGCCCCAGATCCAGACCGCAGAGCCCATTCCTGCTTCAGCCAGCGAACGCCACCCATCCAGCACCAGGGCCCAGCACTCACCCCCTTCATAGTCACAGCTGTCTGCACCTTGGAGGCCACTGCGTCTACGCGGGACGCCATCCGAAGCCAGTTCACACCTTCGTTCTTCTTGCGGATGGCGTTCTCGGCATACACACGGGCACACTCTACATTTTTCTGCAGAAGAGCCTGAAACCCGCGGGGGAAAGCAGCTGGAAGAGCTTGGTGGTGTGTGTGCCCCCTGCTAGGAGCCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCAACGCAAGCTCCGCCCCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGAGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCCTAGGAGCCCAGTGTTGAGGCGGTGGGCGGGCCTCTCCCCAGAAATGTTTGAGCTAAAAATGCAAACACCCAGGCCCCAGCCCAGCCCCCCAAGCAGGCTTCTGCTTCCCCCCGCACCCCTCCAGCACTCCACTGGGCACGGGACACAGCGGGTGACACTCAGAGCCTGTGGCAGGCAGTTCTCCGAGCTCCATTCTCCCTGGGAGCCTGGCTGTGGGTGAAGAGTTACCAAAGTCCAATACGCTGGGACCTACTTCACCGATTACGCAGTTTTAAGAGCTGCACAAGATCCTACCTTCTTTTCTTTTTTTTCTTTTTTTGGAGATGGAATCTCGCTCTGTGGCCCAGGATGGAGTGCAGCAGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCAATTCTCCCGCCTCAGCCTTCCGAGTAGCTGGGATTATAGGTGTGAATCACTGCGCCCGGCCTAGATCCCTCCTCTCCTTCTGCCCTGTCCATCATGGGGAGGGGACCCCTCCTGGAGAGGCACCCCTGTAAGCCTCCAGCCCCATCCCACCCCATGGGGCAGGGGCATCATGACTCTGCCCAGACCCTGATGCCCTAGACACCAGCTCTGTAGGGAGGAGAGAGCTAAAAATGATAGGATCCGCTGGGCCCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGCCTGGCCAACACGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCTTGTAATCCCAGCTACCCAGGAGGTTGAGGCAGGAGAATCACTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCTCTGCACTCCAGCCTGGGCAACAGCGAGACTCCATCTCAAAAAAAAAAAAGATAGGATCGTGGCAGACAGCTAGCTAGCAGCCCTCCTCCTGCAGATGGCAAAATCAAGTTCAGAATGTTGGAAATGCAAAGAAGGAAAACAATGAAGGCAATGCACTCATCTCTGTGCTCTGGACGCCCTCAGTGGGCTGGGAAGGTCTGGCAGGGGCTGTAGGGCAGGGACAGAAACCATTCTGGGCTGCACCACACACAGCACCTCCCTTCCTGAGTGCCTGTTTGTCTTATGTGGGAAGCAAATACTTTGAGGCTCAGAAATCATAGTGAGGATTAGGCTGGGCACAGTGGCTCATGCCTGCAATACCAGCACTTTTGGAGGCCAAGGCAGGTGGGTCACTTGAGGATAAGAGTTCGAGACCGGCCTGGCCAACATGGCGAAACCCCATCTCTACAAAAAAATTAAAAAATTAGCTGGGTGCAAGCCTGTAATCGCAGCTACGTGTGAGGCGAAGGCCCTAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGACGAGATCGCACCTGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAATATATATATATATGTACCTCAAGGTGACGATTAAATCATGATGTAGAAAGTGCCCTGCCCCTCCCCAAAAGGCATCAAAACAAAACAGGACACAAAAATAAGGGCAGAAAAGGACAGAAGACAAACCAGGAGAGTCA
Task1_train_23082
This gene mutation involves FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Fanconi anemia
GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAA
GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTACAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAA
Task1_train_23083
Here is a mutation in FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Fanconi anemia complementation group A
AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTT
AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGGTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTT
Task1_train_23084
An alteration has been detected in ZNF276, FANCA (zinc finger protein 276| FA complementation group A) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Fanconi anemia complementation group A
ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCT
ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTAGATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCT
Task1_train_23085
Chromosome 16 houses a mutation in gene FANCA, ZNF276 (FA complementation group A| zinc finger protein 276). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Fanconi anemia complementation group A
TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACT
TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGGAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACT
Task1_train_23086
This sequence variant lies in ZNF276, FANCA (zinc finger protein 276| FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Fanconi anemia complementation group A
GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTG
GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCCGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTG
Task1_train_23087
A variant was discovered on Chromosome 16, affecting FANCA, ZNF276 (FA complementation group A| zinc finger protein 276). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Fanconi anemia complementation group A
GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTC
GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCACTGGACTCTCCCCTCTCAGAGGTGCGGAACTATATCTGTGACGAATGTGGACAAACCTTCAAGCAGCGGAAGCACCTTCTCGTCCACCAAATGCGACATTCGGGAGCCAAGCCTTTGCAGTAAGTGTGAGTCAGGACCCCCTCCCAGGGCTGTGGCCCTCGCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGGACTCCGCAGTGGCTGTGTCAGCCTCACCCTTCGTGTGCACCCGCATGGGAGGGTCGGAGGGTGCTGCCCGCCCTTGGTGCTGGAGGCGGGCTTGGTGTCCGGCTCAAGTAGCCTTCCTCTGCTCTGGGACCAGTGGTTTATTTTCCCGCAAACGCTGAGTGACTCGGGGCCGGACAGTTCATAAATAATTGATTCCTTTCCCCACTAAAGCAGTCGAGGAGATTTGTAATCCACTTTTTAGTGCAACAAGAGCTCCATGTTATGCTTGTAATAAATTATTTACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAGCCAGCAGCTGTGAGAGAGGAGCAGGTCCTCAGCCCATGCCGCCCACTAGGCCTCAGACCACAGGGGAGGGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATGCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTC
Task1_train_23088
This alteration in FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Fanconi anemia complementation group A
TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGC
TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACTGGCCCTTGCACCTGCCTGACCCTTGAGCTCCAGGCTCCTGCCAGCTGGAGGTGAAACTGTGCTTGTATCCCCAGCCACGAAGAGCTGGACCAGCTTCAAGTACATGTCCACAGCAACATGCAGGAAGGCCTCTTCCCTGATGGCCGCGTCTTCATGGAAGTAGGAGAGAAGACTAGAGGTAAAGACATAGTGACAAATGGCTACAGACTGCTGGAAAGGTAGCAGGTGATGCCAAGGGATACTGCTCATCTGTGGAGCAGAGGCACAGACAACCCTTCCCATCTGGCGGGACCCAGAGGTGCTGAGATGGGGGTCTGGGAAACACTGCCCAGCCCTGACCAGCCCTGTGGGTGGAGGTACCTGTAAAAAGCGAAAGGCAGCAGCCTGGTGTGCTGATCCGGGGCCACACGGAGGAGGAGCCGCCCCAGCCTGAGGTCTGCAACACCAAGAAGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGTGCTGGGGACACCCCTGGGGGTCGGGACGTGTACCCTGGGAGGCCTGGCTGTGGGGATAGTGTGGGGCGAACAGCCTGAGCTGAGGATACCCAGGTACCTGTCAGCAGCTGGGAGAGGATGGGGGGGTCGACCTCTTGCAGGAGGGTGGGTGTGGTGCAGAGAGAGGCAGTCCCCATGATAGGCCCATTGGTCCTGGGGTTGACCAGTGAGCCAGTAAATTATCTTATTGCTTTAAACAAGTTTGTGCTTAATCTGTCCCAACTAAAATGGAGCTTATAAACTTACTTAGCAAGGAACCTCAAGGAGGGCTCGTTCTTAACCATTTGCAAGATGCCTCTGAAAAGAGCGGCCCTCCGCATTTGTGCCTCAGCAGCGTGTTTCTTACCACTCTCTGTCAACTGAAAGAGTGCCAGCCAGGATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACAAACGTGGAAAGCCTTTGGCAGGTCTGTGGTGCTCTGTAAACCGCAGGAGACCAACCCTGAGAATGGCCGACCTGGTGCTCCCATGGGTAGGAGGGTACAGCCCTCAGCACAGAAGAGGGCATTTCCTCTTTGCTTATTGTAAGTCTTAAAACTGGTGACAGTTTTACCTATAGAAGGTAATACTGGGCCTCTGGACAGAAGAGGCTCAGGTAGGAGGCCAGGGACTTCGAGCACCCACACCAAGGCTGCTGCACCACGTCCTCAAATAAGACATTAAAAGAAAGGCCCACAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTCGGCGGATCACTGAGGCCAGTTCAAGACCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGACAGACTCACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTTGAACCCAGGAGGCTGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCCATCTCAAAAAAAAAAAAAAAAAACCCACGGCCTGGGAGTTCTCACTCACACTTCCGCAAACACAAGGAGCTCCTGAGCTAGTCTGGAAACCCTGACTTGGAAGCTGGCTGCCTGGTGCCCCTGCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAACAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGC
Task1_train_23089
A mutation found in FANCA (FA complementation group A) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Fanconi anemia complementation group A
AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCAGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGCCAGTCCGGGTTGGGTGCTGGGGAGGCAGCCTCAGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTC
AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAATCCTTGAAGATAAGCCCACAGGCTCCAGCCTAAAGTAGGGCCTGACTGGGCAGGGTCTCTGTGGACACTCCTCGCTGCACACTAGGGTCCTAAGGCCCTGGAGCCACTAAAATCCCTTCTAACAAAACTACACAAGAAACCTGAAGACGTACTCAGAAGAACCCCTGCAGGGTGGTTATAATCACCAAAACCCTGGGCGCTGCTGTCGATCCAGCTTTGAGCTGGTGTAAGTTGTGTGCTGACATGGCACCTATGCGTTGCGGATCTCGGGCTGGGCACAGAGGGCTGCTGCCTCCAGCTCTCTTGTGGGATGCTTGTTTCTGTTCCTGTTCTGCACACACCACCCTTGGCTCCCTGCACAGAGAGCTGTGTGGGTGTCACTGGTCTTGTGGGGGCAGTCAGGCTTTCCAGGGTGCAGCAACCAGGTGGGCAGTGGGTCTGAGTCGAACATGGTCCCTGGCCTGGAATTCAAGAGCAGCCTCTCCCACTCCTTTCCCTATGCCTATGGCTGCAGACGGTCCCATCCTTGCTGCCTCTTGTCCCCAGCACCCCAGGTCTGAGCTGTCTCACTGCAAGCTTATCTGGGGCTGTCCCTCAGCACATGAATCAAGGCTACTGCAGCATGAACACAGAAGGCACCACTTGAAGGCTGACAGCATTTACGCTGGGCTGTGATGAGGATAAAAATAAGCTGAAGAAACGCACTTCAAGCCTGGGCAACACAGTGAGACCCCCATCTCTTTTAATTTTTACTTTAAACAAATTTTTTTTTTTTGAGACAAGTCTCGCTCTGTCACCCAGACTGCAGGGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCCCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTTTACAGGCTATGGGATTGTAGGTGCGCACCACCACACCCGACTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGACACCAAGTGATCCGCCTGCCTCGGCCTCCCTAAGTGTTGGGATTACAGGCATGAGCCACCATGCCTGGACTACAGACCCCCATCTCAGAAAAAATTACAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCTGAGCTACTCCAGAGGCTGAGGTAAGAGGATGGCTTGAGCCCAGAAGAGGCTGCAGTGAGCTGACTGCACCACTGCACTCCAGCCTGGGCGACAGTGAGACCCTGTCTCAACTACATACAACCATTTAAAAAACTGAAATTATTATTTTTACTAGTAAACTTGATAGTCAAAGTCTTACTCCAAGCCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAGTCTTGCTCCAAGCCACATATTTGTCTTTAGAAAAACAGTTCATCAGACAAGCCCAGAGAAATAGCACTGATTGAAACCAAGCTTGCGAGAAAATAAATCAGTAAAAGAATTTCCTATCTTGCCTCCTCTCTCTCGCAGTCCGGCTTCTTTAGCTGCTTCCTGATGTTTTCTTCCCTGACTTGTTGAATCGCAAAGTGCAGTGCAGCAGCTGAGAGCCAGTCCGGGTTGGGTGCTGGGGAGGCAGCCTCAGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTC
Task1_train_23090
Chromosome 16 houses a mutation in gene FANCA (FA complementation group A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Fanconi anemia complementation group A
AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGT
AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTGGCCCCAGTGTGGTGTCTGAGTTTTCTGGCTGGTTAAAAAATTGGTAGGAAATTAATGAAACAATGCTGTGGTTTAAGAGACTTTAAATAAGCTGGGCATGACGGTTCACATCTGCAATCATAGCACTTCAGGAGGATCGCTTAAGCCCAGCAGTTTGAGATCTGCCTGGGCAACACAGTGAGACTCAATCTCAAATAAACAAAAACGAGGCAGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTCATGGTGAGCCGAGATCGTGCCATCTCACTCTAGGGTGGGTGACAAGAGTGAAACTCTGTCTCAAACAAAACAAAACAAAAAACAAAACTTCAGACAATCTGATCTGTGTTTGTAGAATTAGAACTGGAGGTGTGACCTGCTTTCTCCTTTTTTGAGATGGAGTTTCTCTCTCATTGCCCATGCTGGACTACAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACTATCACACCCAGCTCATTTCTGTATTTTCAGTAGAGATTGTTTCACATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCGCGCCGGGGCCCTCTTCTCTTCTTTCAGCAGACGGCGAGCAGCCAAACCCTGAGGGGACCCGGTGTGGCATCAGTGATTCAAAACTAGTCACAAAGTAAGGTGTTCTCCAAGGAGGCAGGATGGGTACTAGCAGTGCCCTCTGACGACCCCTTAAGAACACGGCACCCACATTCAGCAGGTGGAGTGGCTGTCAGCTCTGTGGTCCTCAGAAGGGTGTGTGAGCCTGGATTGCGCCAGGAGCTTGATGGTTTGCAAGGACCCGTGAATATCTGACTGGGGTCGACAGGTCAGGGTAGGCTGAGAATCTGCATCCCTGAGGTCCCCATGACACTGACCCTACCAGCACGCGGTGCACTCTAGGAGCCCACATTAGATTTAAGAGGAAGGGGAGCAGGTGCAAAGGAATCACTCGAGCTCCTCACTCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCGGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGT
Task1_train_23091
A variant was discovered in gene FANCA, LOC132090450 (FA complementation group A| Neanderthal introgressed variant-containing enhancer experimental_46718), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Fanconi anemia complementation group A
CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGT
CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGACCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGT
Task1_train_23092
The variant affects gene FANCA (FA complementation group A), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Fanconi anemia complementation group A
ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCC
ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTGTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCC
Task1_train_23093
Consider this mutation in FANCA (FA complementation group A) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Fanconi anemia complementation group A
AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGA
AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGGGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGA
Task1_train_23094
Gene FANCA (FA complementation group A), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Fanconi anemia
GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAG
GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAACCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAG
Task1_train_23095
A genomic change on Chromosome 16 affects FANCA (FA complementation group A). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Fanconi anemia complementation group A
CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTT
CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACAGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTT
Task1_train_23096
This variant affects gene FANCA (FA complementation group A) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Fanconi anemia
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
Task1_train_23097
This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Fanconi anemia complementation group A
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
Task1_train_23098
Located on Chromosome 16, this mutation impacts FANCA (FA complementation group A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; FANCA-related disorder
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCCGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGATCCTGGAAAGAAGGGGCTGTATTGGTGGCGACAGCACAGCGTACACTCTGCTCCTTCCCAAGGGCTCAGACTCTCAGAGCAGCAACCACCACCCTGAAACCCAGGGCCACTGTTGGAACCAGAGCCTTGGCCTGTGTCCCTCTGTCCCATCCAAAGCCTGCACTCTGAGCCCACCTCCCCTATACTGTGTTTGGCCCACTGCATTCAAAATGTGTTACCAAACAAACAACTTTTAACAGTTACATAATAACCAACAACTTCTGACAGTTACACGATAACCAAGTGGATGACGCACCAGTCTGTCTAGTGAAGCAATTCCCTATGACTGTAAAATTAAATGACTCCACGCTGCTTCTTATAAATGCAGCCGCCGTGGGCATTTCTGAACACTTTTCCCTACTTTCACAAGAGCTCCTTCTGCGACGTCCCTCCACGTCTGAGCAGGAAGGTTTTGTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGTGTGCAATGGCGTGATCTCGGCTCACTGAAACCTCTGCCTCCCAGGTTCACACCACTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTAGCTAAATTTTTTTGTATTTTTTTTGTATTTTTAGTAGACATGGCGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAACCACCTCGCTTGGCTGGAAGGTTTTAATCAAAAGTACTTTCAACCCTCCAGATCCTCTTCTCCGTGGCATGTGCCACAGAAATGGACAGGCTTGGGGTGGGGACACACAGACAAGTAAGTAACGGGAAACAAACTCACTACAAAGAACCTCTAGGACCGTCATGAGATGCTGCCCTGCCCAGGTGGTGCTGCCCTGCCCAGGTGGTAGTAGGTGTTACCGTTTGTACATTAGCAGCTCCCTCTGTCTCTGAAGGCTGGCAGCCACGCTCCACCCGCTTGTCAGAGCCTGGAGCTGTCTGCGGAAAATCTCAAAGAGGAAGTGCTCCTGGGAAGGGGTGTGGCCGAGAGGCACTATGAGGTCTTGCTGCAGCTCCAGGTCAGCTACCATCTCCTGAAAAAGAGCAGTATGCTGGCACAGGAAGGCCTCGGGGCTCACTGCCCAGCCAGTCGGGGACCCAGACGTCAGGGGTCAGGGAGAGGTCTCCACAGTGGACAGGGCAAGAAGGAACAAGTGGGGCAAGCTATTTCAATTGGAAATCACTTTGAAATTGCAAATATAGAACAGTGCAGGCCGGGTGCTGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTCCTTGAGCCCAGGAGTTACAGTACTACTTATCAACTACTTATCAATTAAGAAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCTGTCGCTACTAAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCGACTCAGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTTCAGACTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAAAAAAAACAGCCAGGTATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGACAGATGGATTACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACAAAATTAGCCATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTAATCAGGAGGCAGAGGCAGGAGAATAGTTTGAACCCGGGAGGTAGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGAGCAAGACTCTGTCTCAAAAACAAACAGACAAAACAAAACAAAACAACAACAAAAAAAAACAGCAGGAGGACACTCATGTGCCCTTCACCCAGATTAACCTCTGGCTAACATTTTACCCCACACATCATTTTTGCCTCACAAGTCTTTTGTTGTTGTTGTTGTTGTTAGGACAGTCTCAGTCCGGTTGCCCAGGCTGGAGTGCGGCAGTGCAGTCTTGGCTTATGGCAGCCTTGACTCTCGAGCTCAGCTGATTCTCCTAAGTCAGCTTCCTGAGTAGCTGGGACTATAGGTACACACCACCATGCTTGACTAGTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAACTGGTCTTGAGCCCCTGACCTCAAGTGATCTAGCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTGGCCGGCTGTATTTTTTAAAGAAGAATAAAGATCAGGTGCAGTGGCTCACGCCTGTAATCCAACAATTTTGGAGACCGAGATGGGTGGTTCACTTGGGCCCAGGAGTTCGAGACAAGCCTGGGCAACATGGCAAAACTCCGTCTCTACAAAAAATCAGCTGGGTGTGGTGGCGCACACAGGTGCACGCTGTCAGGATTGCTTGAGCCCAGGAAGTCAAGGCTGCAGAGAGATATGATCGCACCACTGTACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCCCAATAATAATAATAATTATGATTACAATTAAGAGGAAAAAGCAGATGGTCTCACTGAGAAGGAGCCAGGTGGGTCTAGGGAAAGCATCTGGCTAAGGAGTTGGGAGGCCCCAGAGCTGGCGGAGGGAGAGACAGGGGCCTGGCACAGAAGACGCACGGGTGGCCAGCACCAGTAAATGCCTGTTGACTGACAGTGAACCCACACAGGTACATGCTGCCTACCTGTATAGACTTCAGGTGATCCACCAGCCTCGGACTCCCAAAGTACTGGGATTACAAGCCTGAGCCAACAATAAATATCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAG
Task1_train_23099
Given this variant in gene FANCA (FA complementation group A) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Fanconi anemia complementation group A
ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA
ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCCCCAGGTGTAACCAGTCTTGGTAAGTTAACTGAGAAAGAGAGCAAGCAATTCAATACAATGAGGACAGAACACACAATCCACCGACAGGTTTATAAACCAGTTTGTCATTTCATCTCATACGCAGTCCTCCATGTCCCTGTGTTATAATGAAATTGCAGCTGAGAGTTCCACAGGAAAGAAACCTTAGTTTTATCAAGAATGATTTCTTACAGGATTTCCCTAGCACAAAGATGTTAGTACTGTAATCCTTCTTTCTAAGTATAAAACGGCTATTTTAGTCTGGGCAACATAGTAAGACCTCATCTCATTTAAAAATTACCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCAGATTGCTTGAGCCTAGGAGTTTGACACCAGCCTAGGCAACATGGTGACACCCCGTCTCTACAAAAGATTTAAAAATCAGCCAGGTGTGGTGGCACATGTGTGTGGTCCCAGCCTCTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGTAACAGAGTGAGAACTATCTATAAAAAGGAAAAAAAAAAAAAAGAAAAAAGAAACTAACAAAACAACAACATTCTACAGCTATTCACAGTAGCATACCTTCATTTATTTTTGGAAACAGGTTCTGTTGCCCAGGCTGGAGTGTGTGCAGTGGTGCAATCGTAGCTCGCTGCAGACTCTGCCTCCTGAACTCCAGAATTCTCCCCCTCAGCCTCTCAGATGGCTGGGACTGCAGGTGCACATCACCATGACCAGCTAAGTTTTTTAAAAACATTTTTAGGAGGCCGAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACATATTGGCAGGCCAAAGCAGAAGGATCACTTTTTCCTATTTTTAGTAGAGATGGGGCTTCATCGTGTTACCCAGGATGGTCTCAATCTCCTGACATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCACCTTGAAATTCTTTTCTAAAGACCAAAACAACCAGGCAAACATCCTCAGAAATAAATCAGTACCAAGGCACACTGGTGAGAGCAATGCCAGCTCCAGTAACCAGGCACACATGGGTGAGCCCAGAGACCCTGAGTGACCACCACACAGCCTGGCAGACATGTTTAAAACAAGTTCCCAGGGGCCGAGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCAGCCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGAGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGTGCCCCAGAGTAAGACTCCACCAGAAAAAAAAAACAAAACAACAACAACAACAAAAAACAAGTTCTCGGGCGCAATGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCGTGTGGGTAATTTGAGGCCAGGAGTTTAA